Organ System Disease	Organ System	Disease	Genetic Defect	Symptoms	Prognosis	Treatment and Therapy
	Nervous System 1	Autism	Chromosome Chromosome 2 Apc protien affected. Non mendelian	Don't respond to name at age 12. don't pretend play. flap hands and spin in circles. delayed speech.	Normal life expectancy but is in need of lifelong assistance.	Behavioral, educational, biomedical, and complementary therapies
	Nervous System 2	Rett syndrome	Gene Mutation in gene MECP2. MeCP2 protien. Not known through family tree therefore non mendelian.	Happens in almost only girls. can develop problems with language, communication and learning. slower growth. generally smaller heads.	Beyond age 40 but due to rareness the disease prognosis is not completely known.	Physical and speech therapy.  they give carbamazepine or valproic acid to help with seizures. levodopa is given to help with motor skills
	Nervous System 3	Metachromatic Leukodystrophy	Gene ARSA gene arylsulfatase A enzyme Mendelian	Sulfatides increase in number causing damage to nervous system. behavior problem. Irritable, decrease mental functions, and difficulty walking.	Leads to loss of muscle control and mental functions. depending on the start of disease it can take 3-20 years to cause death.	No treatment.
	Nervous System 4	Krabbe disease	Gene Galc gene Enzyme galactosylceramidase Mendelian	Growth and longevity of myelin is affected and shortened.  vision is impaired and hearing is much more sensitive.	General die before the age of 2.	No treatment is available.
	Nervous System 5	Coffin- Lowry Syndrome	-Caused by mutations in the RPS6KA3 gene. -The RPS6KA3 gene instructs the production of the RPS6KA3 protein (which controls activity of other genes). Causes little or no production of this protein. -inherited in an x linked dominant pattern. -Mendelian inheritance.	-Craniofacial and Skeletal abnormalities. -under developed upper jaw bone, prominent brow bone, large ears, widely spaced eyes, mental retardation, hearing impairment, kidney problems, heart failure, weakness, missing teeth, hairiness, seizures, mental deficiency.	Prognosis depends on the severity of symptoms. Catching this early may improve a patients outcome.	People suffering from this may chose to attend speech therapy and physical therapy, as well as Symptomatic and supportive treatments to relieve symptoms without actually treating the cause.
	Nervous System 6	Galactosaemia	-Caused by mutations in the GALE (chromosome 1), GALK1 (chromosome 17), and GALT (chromosome 9) genes. -Autsomal Recessive inheritance. -Mendelian inheritance. -	Vomiting, diarrhea, fatigue, jaundice, low blood sugar, enlarged liver, cataracts, protein and amino acids in urine.	If lactose and galactose are cut out this can be managed and one may lead a healthy life. Early detection is key to managing symptoms. If untreated severe mental retardation cirrhosis of the liver and death may occur.	The only treatment is to cut out lactose and galactose from the diet so they do not cause permanent damage to their bodies.
	Nervous System 7	Gaucher Disease	-Mutations in the GBA gene, on the first chromosome  cause this -Autosomal Recessive inheritance -Mendelian inheritance. -	-Enlarged spleen and liver, liver malfunctions, bone lesions, skeletal disorders,  distended abdomen, brownish tint to skin, yellow fatty deposits on sclera, anemia, low blood platelets, osteoporosis, cirrhosis of the liver is rare but possible.	There is no cure for Gaucher Disease and even when caught early, ones life expectancy is unknown.	Enzyme replacement treatment and intravenous recombinant glucocerebrosidase can help treat symptoms. Use of the drug Velaglucerase alfa has recently been approved to treat this as well.
	Nervous System 8	Menkes Syndrome	-Caused by mutations in the ATP7A gene -inherited in an x linked recessive pattern -Mendelian inheritance	Pudgy rosy cheeks, irritability, seizures, brittle kinky hair, light coloring, low body temperature, bone spurs, skeletal changes, mental deterioration.	Death is usually expected to occur within the first few years of life.	Treatment usually only works very early on and is generally injection of copper into a vein.
	Nervous System 9	Canavan Disease	-caused by mutations in the ASPA gene (which provides the instruction for making the enzyme aspartoacylase. -Autosomal recessive inheritance. -Mendelian inherited.	Increasing head size, irritability, severe mental retardation, nasal regurgitation, abnormal posture,  swallowing difficulties, reflux with vomiting, poor vision or blindness.	Most individuals are expected to live only into childhood although on rare occasion one may survive into adolescence or beyond. Head MRI’s and CT scans are given.	Treatment aims at easing symptoms. There is no specific treatment.
	Nervous System 10	Down Syndrome	-A chromosomal condition -caused by an extra copy of all or a piece of chromosome 21. -Non Mendelian Inheritance -	An upward slant to the eye, a short neck, a flat profile, abnormally shaped ears, white spots on iris of eye, smaller than average size, a deep transverse crease in palm of hand, poor muscle tone, joint looseness, broad feet with short toes, and learning disabilities.	Life expectancy has increased over the last couple of years, one may live to 50 or older now yet these people are still at risk for other complications such as different cancers, heart disease, immune system problems, mental retardation, Alzheimer’s.	Common treatment consists of surgeries, medications, counseling and support, regular check up and screenings.
	Bone 1	Thrombocytopenia Absent Radius syndrome	Chromosome Chromosome 1 Deletion of 11 genes Chromsome 1q21.1 Protien is unknown Non mendelian	Missing radius bone in both arms	Most die in infancy due to bleeding complications.	Platelet transfusion and surgical care to arms.
	Bone 2	McCune-Albright syndrome	GNAS gene guanine nucleotide binding protein,  G protein. Non mendelian	Causes bone abnormality such as uneven growth of legs. early menstruation of female. large spots on back.	Life span is normal but complications such as blindness, cosmetic problems, and deafness may occur.	Testolactone to help block estrogen from being produced.  There is generally no treatment though.
	Bone 3	multiple exostoses	gene EXT1 and EXT2 gene. Exostosin 1 and Exostosin 2 protien mendelian	Develop a few benign tumors on bones.   joint movement becomes limited.  pain in bones aswell as a short stature.	The tumors do not continue to grow and more tend to not appear.	Surgery to remove tumors.
	Bone 4	Osteogenesis Imperfecta type 1	gene Mutation of COL1A1 gene Lesser production of  Collagen protien Mendelian.	Bone fractures during childhood due to minor contact. have blue or grey on are of eye that is supposed to be white.	Normal lifespan	Bisphosphonates drugs. swimming. no contact exercise.
	Bone 5	Osteogenesis Imperfecta type 2	gene Mutation of COL1A1 and COL1A2 gene Structure of Collagen Protien is changed. Mendelian.	Frequent bone fractures that occur before birth with no contact of very little.  underdeveloped lunges.  small and weak ribs.	Die shortly after birth due to developed breathing problems.	Surgery to help bone deformities.
	Bone 6	autosomal dominant osteopetrosis	gene CLCN7 gene Affects ocsteoclast cells Mendelian	Bones become dense. multiple bone fractures. scoliosis. hips may become arthritic.	Gets worse over time	Given calcium, platelet transfusion.
	Bone 7	autosomal recessive osteopetrosis	TCIRG 1 gene mutation Affect ocsteoclast cells Mendelian	Known early in life.  dense bones which fracture easily.  dense skull bone pinch nerves which cause loss of vision, hearing, and facial movement. can affect bone  marrow causing less red blood cells.	Babies are still born. few survive past midlife. bone marrow failure, internal bleeding and infections occur.	Bone marrow transplant.
	Bone 8	X-linked hypophosphatemic rickets	Gene Gene PHEX Regulates phosphate as an enzyme.  PHEX protein.  Mendelian.	Low level of phosphate in blood which help in bone and teeth formation.  bone abnormality. Slower growth, pain in bones,  legs  are not on a normal angle considered bowed.	Bone abnormalities  get worse over time.  small stature can occur if untreated.	Vitamin D and phosphate supplements.
	Bone 9	Enlarged parietal foramina	Gene ALX4 and MSX2. Transcription factor protein. Mendelian.	The holes in parietal bone are enlarged. seizures can occur as well as abnormalities in scalp. headaches.	Sometimes holes tend to shrink with age.  Good prognosis.	Education in avoiding risky activities or actions.  natural shrinkage or surgery.
	Bone 10	Paget's Disease of Bone	Gene SQSTM1 Gene P62 protein Some cases are Mendelian	Bones grow weak and larger.  Pain in bones, bowing legs, enlarged head, fractures, headaches, joint pain, Height is decreased.	Can develop cancer, but most cases are controlled with medicine.	Bone treatment with drugs like Bisphosphonates: alendronate, etidronate. Calcitonin: Intranasal. Plicamycin.
	Muscle 1	Hereditary Spastic Paraplegia	Autosomal dominant, recessive, or x-linked  recessive Mendelian inheritance	Depends on what kind was inherited Usally consistant with progressive spacisticy in the lower limbs, muscle weakness, and variable bladder disturbances.	Classified based on symptoms and mode of genetic inheritance. Usually a progressive disease. Starts in the lower extremities and spreads to other muscles. Continues to spread until patient is bed ridden	No specific ways to prevent or slow this disease. Most treatments only manage the symptoms and the patients well being.
	Muscle 2	Early-Onset Primary Dystonia	Causes are unknown but involved a genetic predisposition to the disease along with environmental factors. Non-Mendelian	Abnormal posture. Loss of coordination Cramping pains and trembling	No real prognosis Disease is different for everyone Most cases stabilize within 5 years of onset.	Limited to lessening the effects of the symptoms. No true cure for the cause Reducing certain types of movements that cause reactions Physical therapy
	Muscle 3	Hereditary Sensory Neuropathy Type I	Autosomal dominant trait Mendelian	sensory deficit in the distal portion of the lower extremities, chronic perforating ulcerations of the feet progressive destruction of underlying bones	Symptoms appear in late child hood and early adolescence. Patients should meet with a doctor early on to receive counseling and treatment. The prognosis good Foot ulcers can heal if kept clean and the use of low pressure shoes the patient can live a full life.	Foot ulcers resemble those that are found in diabetes patients. As such they are treated in a similar fashion
	Muscle 4	Charcot-Marie-Tooth	PMP22 Autosomal Dominant, Autosomal Recessive, and X linked chromosome. (the inheritance decided what form of the disorder you have) Mendelian Inheritance PMP22	Usually begins in childhood or early adult hood. Cases of this happening around the age of 30 have occurred. First symptom is usually a foot drop. Claw toe Weakness in the forearms and hands.	Progression of the symptoms is very gradual Degeneration of sensory nerves reduces the ability to feel heat, cold, etc Degeneration of the motor nerves causes muscle weakness and atrophy in the arms and legs.	Ascorbic acid has been suggested but there is no real treatment. Important to keep what muscle strength and movement the patient may have left Physical therapy is recommended
	Muscle 5	FRMD7- Related infantile Nystagmus	FRMD7 makes a protein whose exact function is unknown but is involved with eye movement. It is also found in the retina X-linked Mendelian inheritance	Involuntary movement of the eyes from left to right.	Present at birth or within first 6 months and may worsen Disease may disrupt development of certain nerve and brain cells.	Traditionally viewed as non treatable but some doctors have used anticonvulsants
	Blood 1	Sickle cell amenia	Two sickle cell gene or one sickle cell gene and abnormal hemoglobin gene. Protein hemoglobin is affected. Mendelian	Tiredness, Irritability, Dizziness and light headed, Fast heart rate. have an abnormal shaped red blood cells.	50s or beyond.	Blood transfusion, ingest supplements of folic acids
	Blood 2	Hemophilia	Gene in the x Chromosome. factor VII or factor IX Mendelian	Bleeding that last for a long time.  bleeding without a known cause.	Normal life expectancy with treatment.	Injection of missing blood clotting factors.
	Blood 3	Protein S deficiency .	Gene Gene PROS1 Protein S mendelian	Changes in skin color. redness and swelling in affected area. tenderness.  abnormal blood clotting.	Good with treatment.	heparin and warfarin.  drugs that thin the blood.
	Blood 4	Hemochromatosis	gene HFE gene C282Y and H63D mutation mendelian	Joint pains, fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems.  too much iron builds up in blood.	Leads to liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure. if detected early prognosis is good.	Rid body of excess iron in blood.
	Blood 5	prothrombin deficiency	Gene F2 Gene Prothrombin protein called coagulation factor 2. Mendelian	Longer bleeding after surgery or injury. women can have longer or excess menstrual bleeding. serious cases can be bleeding without any hit or contact.	With treatment life expectancy and treatment is good.	Infusion of plasma and blood clotting factors.
	Blood 6	Alpha thalassemia	Gene HBA1 and HBA2 gene. Alpha globin protein. Must inherit from both parents therefore it is mendelian	No symptoms in mild cases. severe cases cause paleness, poor appetite, and dark urine. body has problems making hemoglobin	Severe cases can be up to 20 to 30 years. treatment can help outcome. mild cases there is no decrease in life span.	Transferring of blood and folate supplements are provided
	Blood 7	Beta thalassemia	Gene HBB Gene Beta globin protein Mendelian	Production of hemoglobin is reduced.  smaller amount of red blood cells leading to pale skin.  do not grow and have a severe case of anemia.	Can develop blood clots as well as liver, heart, and hormone problem.  sever cases life is shortened but mild cases there is no noticeable change in life span.	Blood transfusion and chelation therapy.
	Blood 8	Beta-globin type methemoglobinemia	Gene Mutation in HBB gene Beta globin mendelian	Beta globin is mutated to hemoglobin M. Hemoglobin M does not cooperate with heme molecule efficiently therefore decrease in oxygen transport. Bluish skin.	Prognosis for this type of methemoglobinemia is good.	Hyperbaric oxygen therapy. Mild cases usually need no treatment.
	Blood 9	Wiskott-Aldrich syndrome	Mutation in X chromosome WAS gene WASP protein Mendelian	Affects Males blood cells and cells in the immune system. Tend to have low amount of platelets. Eczema, bruise easily.  drawn out bleeding for abnormal amount of time.	Can develop immune system disorders (multiple infections). risk of lymphoma is present. Without transplant men die in twenties.	Bone marrow transplant. care towards eczema. every month patient is given a gamma globulin infusion.  chronic prophylactic antibiotics are administered.
	Blood 10	antithrombin deficiency	SERPINC1 gene Antithrombin protien Mendilian	deep vein thrombosis, which is a clot in the deep veins of legs. pulmonary embolism (PE), a blood clot in lungs. swelling in leg, coughing up blood, difficulty in breathing and fainting.	Prognosis is good when using medication but patient can die if blood clots are present in lungs.	Blood thinning medication
	Glands 1	Cystic fibrosis	Gene CFTR Affects flow of chloride ion. Mendelian	Lung infection due to thick mucus clogging lungs attracting bacteria. cant gain much weight or control it. dehydration and increased heart rate.	Death use to occur in teens but now can live up to 35 years of age and more. leads to sever lung and digestion problems.	Remove thick mucus from lungs. prevent dehydration and provide nutrition. prevent lung infections.  chest physical therapy.
	Glands 2	Breast cancer	Gene BRCA1 and BRCA2 gene are major in its heredity. No specific protein given. mendelian	A lump in breast. discharge in nipple or a change in the size of breast.	Depends on stage cancer is in. less than five years if tumor is large.	Radiation, hormone therapy and chemotherapy.
	Glands 3	Shwachman-Bodian-Diamond Syndrome	Found on chromosome 7. The SBDS gene is expressed in all tissues and codes for a protein that has no particular function. Mendealian inheritance.	exocrine pancreatic dysfunction, hematologic abnormalities growth retardation	Symptoms improve with age but there is an increased risk for blood cancer.	Pancreatic exocrine insufficiency may be treated with the help of supplements. Any severe skeletal problems or abnormalities would require surgery
	Glands 4	Hereditary Pancreatits	Mendealian inheritance Infects the gene which encodes for cationic trypsinogen which breakes down proteins in our food.	chronic abdominal pain, diarrhea, nausea, vomiting, malnutrition	symptoms may last for months or years. Without treatment the disease can cause permanent damage and even death.	Treatment focuses on pain control Replacing pancreatic enzymes. Removal of the pancreas may occur but results in insulin dependent diabetes.
	Glands 5	Johanson-Blizzard Syndrome	Autosomal recessive. Protein ubquitin is acting up. UBR1 Gene on chromosome 15 Autosomal recessive inheritance.	Due to build up of connective tissue in the pancreas diabetes and insulin resistance can be seen Other possible symptoms are hypothyroidism, Growth hormone deficiency	Disease continues to affect the patient for life. There is no cure but the symptoms can be managed and somewhat cured through medication and hormones.	No treatment but management of the symptoms is commonly used. For pancreatic insufficiency the patient is given hormones to help.
	Glands 6	Hypohidrotic Ectodermal Dysplasia	Defects in the EDA, EDAR, and EDARADD genes x-linked inheritance mendelian inherited proteins that help in embryonic development are defficant	Inability to sweat due to lack of sweat glands or disorted sweat glands Sparse scalp and body hair. Dark rings around eyes Chronic skin problems. Tooth problems	Person may live a somewhat normal life if they keep it under control. Usally last the entire life time because the damage is already done.	Depending on the symptoms the patient is advised to have air conditioning and to drink cool liquids to keep from getting overheated. Temperature control is key. For dental issues the patient is advised to carry out good dental hygiene and meet with a dentist.
	Glands 7	Multiple endocrine neoplasia type 2	Associated with tumors in the endocrine system.   Inherited in a dominant autosomal pattern. Or Mutations from the RET gene.	Tumors usally indicate what type of this disease you have. Symptoms are usally related to other diseases like hyperparathyroidism, Or Thyroid carcinoma	hyperparathyroidism develops in MEN 2A patients but not usally in those with MEN 2B. Gastrointestinal, skeletal, and dermatological problems only occur in MEN 2B patients	Treated with surgery Use of prostaglandin inhibitors to alleviate some uncomfort.
	Glands 8	Familial Hyperaldosteroism	CYP11B1 and CYP11B2 on chromosome 8 Mendelian inheritance Autosomal dominant pattern.	Excessive amounts of aldosterone lead to symptoms. Hyper tension	Usually good if caught early Affected tissue is removed in the hope blood pressure will return to normal(some cases)	Partial Suppression of Adrenocorticotropin Required to Correct Hypertension
	Glands 9	Cushings syndrome	Endocrine disorder caused by too much cortisol in the blood. This can happen through cancer or a tumor that produces cortisol. Non-mendealian inheritance.	Rapid weight gain Excessive sweating Thinning of the skin Baldness/dry or brittle hair	Prognosis varies on what caused the cushings syndrome in the first place. But most cases can be cured.	Surgery Chemo therapy Cortisol inhibiting medications.
	Glands 10	addisons	DAX-1 gene mutatation Non-mendelian	Fatigue Light headedness upon standing Weight loss Muscle weakness Anxiety Changes in mood Vomiting	With proper medicine a person can live a normal life. But should always have an injection of cortisol ready or on hand.	Treatment involves replacing missing cortisol. Sometimes with the use of hydrocortisone pills. This treatment is usally continued throughout the life.
	Kidney or Liver 1	Autosomal Dominant Polycystic kidney disease	Gene PKD1 and PKD2 gene polycystin-1 protein. Mendelian	Cyst develop in kidneys. kidney becomes enlarge. Abdominal pain, flank pain, high blood pressure, and blood in urine.  symptoms usually seen in adult hood	Progressively gets worse over time and leads to kidney failure.	Diuretics and other high blood pressure drugs are given to control high blood pressure. kidney transplant or surgical removal of kidney. cyst can be drained but there are too many to remove.
	Kidney or Liver 2	Autosomal Recessive PKD	Gene PKHD 1 gene Fibrocystin protein Mendellian	Cyst develop in kidneys. kidney swells. symptoms usually seen in infancy	Kidney failure/infection. death during infancy,	Kidney transplant or surgical removal of kidney
	Kidney or Liver 3	Wilson Disease	-Caused by a mutation of the ATP7B gene (causing them to not be able to release copper from the liver at a normal rate) -Autosomal recessive -Mendelian inheritance	Tiredness, increased bleeding tendency or confusion and portal hypertension. Jaundice, swelling of the liver, seizures, migraines, clumsiness, tendency to bruise, change in behavior, anemia, muscle stiffness, tremors, fluid buildup in legs or abdomen.	Diagnosed through physical examination and lab testing. Can be misdiagnosed because it is rare but when diagnosed will require lifelong treatment.	Lifelong treatment is required to reduce and control the amount of copper in the body. At first therapy is to remove the excess copper, reduce copper intake, and treat  any liver or central nervous system damage.
	Kidney or Liver 4	liver disease	PKD1, or PKD2 gene non mendelian	abdominal pain or tenderness blood in urine excessive urination at night flank pain on one or both sides drowsiness high blood pressure joint pain nail abnormalities painful menstruation	The disease gets worse slowly, eventually resulting in end-stage kidney failure. It is also associated with liver disease, including infection of liver cysts. Medical treatment may provide relief of symptoms for many years. The absence of systemic disease or autoimmune disease makes people with polycystic kidney disease good candidates for kidney transplantation	The goal of treatment is to control symptoms and prevent complications. High blood pressure may be difficult to control, but control of it is the most important aspect of treatment. Treatment may include: Blood pressure medicines Diuretics Low-salt diet
	Kidney or Liver 5	Alport Syndrome	gene Mutation in the COL4A3, COL4A4, COL4A5 mendelian	no symptoms at first in woman, mild or no symptoms men, more severe and get worse abnormal urine color ankle feet and leg swelling blood in urine decrease or loss of vision (more common in males) loss f hearing (males) swelling around the eyes overall swelling can cause damage to the kidney by progressive formation of scar tissue in normal kidney structure	woman usually have normal life span with no sign of disease expect for blood in urine. rarely, woman will have high blood pressure, swelling, and nerve deafness as a complication of pregnancy. in men deafness and visual difficulties and kidney failure are likely by age 50.	goals of treatment is to monitor and control prgesstion of disease and treating the symptoms most important, strictly control blood pressure treatment of chronic kidney failure may become necessary, may include dietary modifications, fluid restrictions, and other treatments. ultimately, chronic kidney failure progresses to end stage kidney disease requires dialysis or translation
	Kidney or Liver 6	gilbert syndrome	gene UGT1A gene is located on chromosome 2 mendelian	doesn’t show signs and symptoms. causes level of bilirubin in blood to rise so may experience: yellowish ting to skin and whites of eyes (jaundice) abdonminal pain fatigue weakness	completely benigh condition with no morbidity or incread risk of mortality, ptients natually have a normal life expectancy.	does not require treatment. the bilirubin levels in your blod may fluctuate over time.
	Kidney or Liver 7	alström syndrome	gene UBE3A non mendelian	Dark patches of skin (acanthosis nigricans) Deafness Impaired heart function (cardiomyopathy), which may lead to heart failure Obesity Progressive kidney failure Slowed growth Symptoms of childhood-onset or type 2 diabetes Occasionally, the following can also occur: Gastrointestinal reflux hypothyroidism Liver dysfunction Small penis	deafness, permanent blindness, type 2 diabetes kidney and liver failure may get worse	no treatment for syndrome but treatment for symptoms, diabetes medication hearing aids heart meds thyroid hormone replacement
	Kidney or Liver 8	Autosomal Dominant Polycystic Kidney disease	-Gene PKD1 and PKD2 gene polycystin-1 protein -Mendelian	Cyst develop in kidneys. Kidney becomes enlarge. Abdominal pain, flank pain, high blood pressure, and blood in urine. Symptoms usually seen in adult hood	Progressively gets worse over time and leads to kidney failure.	Diuretics and other high blood pressure drugs are given to control high blood pressure. kidney transplant or surgical removal of kidney. cyst can be drained but there are too many to remove.
	Kidney or Liver 9	Alagille Syndrome	-In over 90% of cases the JAG1 gene causes this. 7 % have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people have mutations in a different gene, called NOTCH2. -JAG1 and NOTCH2 provide the instructions for making proteins that fit together to trigger specific interactions. Autosomal Dominant pattern Non Mendelian	Liver damage, jaundice, Cholestasis, congenital heart problems, deep set eyes, broad prominent forehead, small pointed chin, kidney problems, central nervous system problems.	Prognosis will vary with varying symptoms. Fifteen percent of people will need liver transplants. Children may live up to 20 years with proper treatment. Adults who catch it early and begin treatment may lead a normal life.	Liver transplant in 15 % of people. Correction of vitamin deficiencies. Monitoring by a cardiologist is important as well.
	Kidney or Liver 10	medullary cystic kidney disease	chromosome Autosomal Dominant inheritance	bed wetting in kids, excessive urination, low blood pressure, need to pee at night, salt craving, weakness, later symptoms include: kidney failure may occur, coma, confusion, decrease alertness, delirium, drowsiness, easy bruising or bleeding, lethargy, fatigue, frequent hiccups, general ill feeling, general itching, headache, increase skin pigmentation, muscle twitching or cramps, nausea, pale skin	lab tests including: 24 hour urine volume blood urine nitrogen BUN complete blood count CBC creatinine - blood creatinine clearance electrolytes - blood uric acid - blood urine specific gravity (will be low) abnormal ultrasound abnormal CT scan renal biopsy	no cure, At first, treatment focuses on controlling symptoms, reducing complications, and slowing the progression of the disease. Due to the loss of water and salt, the patient will need to drink plenty of fluids and take salt supplements to avoid dehydration. As the disease gets worse, kidney failure develops. Treatment may involve medications and diet changes to limit foods containing phosphorus and potassium.
	Other 1	Treacher collins syndrome	TCOF1 gene Treacle protien deficient Non mendillion usualy caused by gene change	Part of ears are missing or abnormal. large mouth and small jaw. deafness and defects to face.	Normal prognosis	Plastic surgery and checking for hearing loss to help enable child to still learn in school.
	Other 2	Marfan syndrome effects connective tissue	Gene Chromosome 15 Gene FBN1 Fibrillin 1 protien Mendillion	Tall thin and appear to have loose joints. problems with aorta.	Average lifespan of 70 years with treatment.	Treatment varies on symptoms. example surgery is done to aorta if patient experience problems with that. surgery is main treatment
	Other 3	Klinefelter syndrome	Chromosome Extra X Chromosome in males. Non Mendilian	Body proportion is off. sexual problems. smaller amount of body hair then the usual.	Normal life expectancy.	Testosterone therapy.
	Other 4	Turner syndrome	Chromosome Missing or changed structure of X chromosome. SHOX gene is believed to affected which relates to growth. Non mendelian.	Wide neck and swollen feet/hands.  puberty is not finished leading to flat chest. short height and no menstruation.	With guidance of doctor can live a normal life.	Estrogen therapy and growth hormones are given.
	Other 5	Progeria	Position 1824 of LMNA gene which replaces cytosine with thymine.	Small fragile bodies like those of old people Distinctive characteristics. (small face/jaw) Wrinkled skin.	There is no known cure and few people live past 13 years old. Most patients die of complications or from atherosclerosis.	No treatments have been proven to be effective, instead they focus on avoiding/reliving complications.