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The "Genetic Disorders" table displays detailed information on genetic disorders including the risk factors, symptoms and treatments.
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| x name | x image | x Risk Factors | x Symptoms | x Treatments | x article |
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| x 1p36 Deletion Syndrome |
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1p36 deletion syndrome (also known as monosomy 1p36) is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision...
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| x 22q11.2 deletion syndrome |
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Family History of 22q11.2 deletion syndrome | Autoimmune Disease |
DiGeorge Syndrome is a congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and...
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| Congenital heart disease | |||||
| Growth hormone deficiency | |||||
| Hearing impairment | |||||
| Hypertelorism | |||||
| more ▼ | |||||
| x Aagenaes syndrome |
A syndrome characterised by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts.
The...
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| x Abetalipoproteinemia |
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| x Aceruloplasminemia |
Aceruloplasminemia is an autosomal recessive disorder of iron metabolism characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.
Iron accumulates in the pancreas, liver and brain. Accumulation in the eye...
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| x Achondrogenesis |
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Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a...
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| x Achondroplasia |
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Achondroplasia ( /əˌkɒndrɵˈpleɪziə/) is a common cause of dwarfism. It occurs as a sporadic mutation in approximately 75% of cases (associated with advanced paternal age) or may be inherited as an autosomal dominant genetic disorder.
Achondroplastic...
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| x Acute intermittent porphyria |
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Hallucination |
Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase....
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| x Adenylosuccinate lyase deficiency |
Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is a rare autosomal recessive metabolic disorder characterized by the appearance of succinylaminoimidazolecarboxamide riboside (SAICA riboside) and succinyladenosine (S-Ado)...
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| x Adrenoleukodystrophy |
Adrenoleukodystrophy (ALD, also called Siemerling-Creutzfeldt Disease or Addison-Schilder's disease) is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a...
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| x Aicardi syndrome |
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms...
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| x ALA dehydratase deficiency |
Aminolevulinic acid dehydratase deficiency porphyria (also known as "Doss porphyria," and "Plumboporphyria") is a cutaneous condition, disease can present during early childhood (as well as in adulthood) with acute neurologic symptoms that resemble...
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| x Albinism |
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Albinism (from Latin albus, "white"; see extended etymology, also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect...
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| x Alexander disease |
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Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical...
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| x Alkaptonuria |
Alkaptonuria (black urine disease or alcaptonuria) is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase (EC 1.13...
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| x Alpha 1-antitrypsin deficiency |
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Alpha 1-antitrypsin deficiency (α1-antitrypsin deficiency, A1AD or simply Alpha-1) is a genetic disorder that causes defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of...
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| x Alport syndrome |
Alport syndrome or hereditary nephritis is a genetic disorder characterized by glomerulonephritis, endstage kidney disease, and hearing loss. Alport syndrome can also affect the eyes (lenticonus). The presence of blood in the urine (hematuria) is...
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| x Alstrom syndrome |
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Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries. It...
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| x Amelogenesis imperfecta |
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Amelogenesis imperfecta presents with abnormal formation of the enamel or external layer of teeth. Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it. Amelogenesis imperfecta is due to the malfunction of the...
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| x Androgen insensitivity syndrome |
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Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the...
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| x Aneuploidy |
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Aneuploidy is an abnormal number of chromosomes, and is a type of chromosome abnormality. An extra or missing chromosome is a common cause of genetic disorders (birth defects). Some cancer cells also have abnormal numbers of chromosomes. Aneuploidy...
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| x Angelman syndrome |
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Family history of Angelman syndrome | Mental retardation | Speech therapy |
Angelman syndrome ( /ˈeɪndʒəl.mən/; abbreviated AS) is a neuro-genetic disorder characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and...
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| Sleep disorder | Anticonvulsant | ||||
| Developmental disability | Physical therapy | ||||
| Seizure | Cognitive behavioral therapy | ||||
| Speech disorder | |||||
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| x Apert syndrome |
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Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the...
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| x Ataxia telangiectasia |
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Ataxia telangiectasia (A-T) (also referred to as Louis–Bar syndrome) is a rare, neurodegenerative, inherited disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are...
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| x Benjamin syndrome |
Benjamin Syndrome (or Benjamin anemia) is a type of multiple congenital anomaly/mental retardation (MCA/MR) syndrome. It is characterized by hypochromic anemia with mental deficiency and various craniofacial and other anomalies. It can also include...
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| x Beta-thalassemia |
Beta-thalassemias (β-thalassemias) are a group of inherited blood disorders caused by reduced or absent synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals....
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| x Biotinidase deficiency |
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency.
Biotin,...
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| x Bloom syndrome |
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Bloom syndrome (in the literature, most often abbreviated BS), also known as Bloom–Torre–Machacek syndrome, is a rare autosomal recessive disorder characterized by short stature and predisposition to the development of cancer. Cells from a person...
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| x Brugada syndrome |
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The Brugada syndrome is a genetic disease that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. It is named by the Spanish cardiologists Pedro Brugada and Josep Brugada. It is the major...
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| x CADASIL |
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CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19. The disease...
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| x Campomelic dysplasia |
Camptomelic dysplasia is a genetic disorder, camptomelic or campomelic refer to the bowing of the femur and tibia, (campto meaning bent and melia refers to the limbs) commonly seen in this disorder.
A mutation in the gene coding for the...
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| x Canavan disease | Family History of Canavan disease | Mental retardation |
Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is...
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| Ashkenazi Jews | Paralysis | ||||
| Megalocephaly | |||||
| Seizure | |||||
| Hypotonia | |||||
| more ▼ | |||||
| x Cancer |
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Tobacco smoking | cerebella tumor | Surgery |
Malignant Neoplasm is a tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are...
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| Medulloblastoma | Chemotherapy | ||||
| Radiation therapy | |||||
| Nimotuzumab | |||||
| x Cephalic disorder |
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Cephalic disorders (from the Greek word κεφάλη, meaning "head") are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. Cephalic is a term that means "head" or "head end of the body."
Cephalic...
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| x Charcot-Marie-Tooth disease |
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Family History of Charcot-Marie-Tooth disease | Hammer toe |
Charcot–Marie–Tooth disease (CMT), also known as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN), hereditary sensorimotor neuropathy (HSMN), or peroneal muscular atrophy, is an inherited...
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| Foot drop | |||||
| Scoliosis | |||||
| Gastrointestinal Disorders | |||||
| Tremor | |||||
| more ▼ | |||||
| x Chronic granulomatous disease |
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Chronic granulomatous disease (CGD) (also known as Bridges–Good syndrome, Chronic granulomatous disorder, and Quie syndrome) is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive...
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| x Cleft Palate |
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Family history of cleft chin | Speech disorder | Prosthesis |
Cleft lip (cheiloschisis) and cleft palate (palatoschisis), which can also occur together as cleft lip and palate, are variations of a type of clefting congenital deformity caused by abnormal facial development during gestation. A cleft is a fissure...
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| Malnutrition | Speech therapy | ||||
| Otitis | Psychotherapy | ||||
| Deformity | Reconstructive surgery | ||||
| Feeding difficulties | |||||
| more ▼ | |||||
| x Cockayne syndrome |
Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall syndrome) is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight ...
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| x Coeliac disease |
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Dermatitis herpetiformis | Failure to thrive | Gluten-free diet |
Coeliac disease ( /ˈsiːli.æk/; spelled celiac disease in North America and often celiac sprue) is an autoimmune disorder of the small intestine that occurs in genetically predisposed people of all ages from middle infancy onward. Symptoms include...
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| Selective immunoglobulin A deficiency | Fatigue | ||||
| Hyposplenism | Diarrhea | ||||
| Personal history of Down syndrome | Weight loss | ||||
| Personal history of Microscopic colitis | Stunted growth | ||||
| more ▼ | more ▼ | ||||
| x Coffin-Lowry syndrome |
Coffin-Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.
It...
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| x Collagenopathy, types II and XI |
The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body's joints and organs. These disorders are caused by defects in type II or type XI collagen. Collagens are complex molecules...
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| x Color blindness |
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Brain damage | Difficulty distinguishing between blue and green |
Color blindness or color vision deficiency is the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. Color blindness affects many people in a population. "Color blind" is a term of art;...
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| Old age | Difficulty distinguishing between yellow and blue | ||||
| Parkinson's disease | Difficulty distinguishing between red and green | ||||
| Alcoholism | |||||
| Alzheimer's disease | |||||
| more ▼ | |||||
| x Congenital absence of the vas deferens |
Congenital absence of the vas deferens (CAVD) is a condition in which the vasa deferentia, male reproductive organs, fail to form properly prior to birth. It may either be unilateral (CUAVD) or bilateral (CBAVD).
The vas deferens connect the sperm...
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| x Congenital adrenal hyperplasia |
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Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands ...
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| x Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency |
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3β-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia (3βHSD CAH) is an uncommon form of CAH resulting from a mutation in the gene for one of the key enzymes in cortisol synthesis by the adrenal gland, 3β-hydroxysteroid...
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| x Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency |
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Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene for the enzyme CYP17A1. It produces decreased synthesis of both cortisol and sex steroids,...
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| x Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for over 95% of diagnosed cases of congenital adrenal hyperplasia, and "CAH" in most contexts refers to 21-hydroxylase deficiency. An overview of...
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| x Congenital heart defect |
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A congenital heart defect (CHD) is a defect in the structure of the heart and great vessels which is present at birth. Many types of heart defects exist, most of which either obstruct blood flow in the heart or vessels near it, or cause blood to...
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| x Congenital hypothyroidism |
Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several...
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| x Coronary heart disease |
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Menopause | Dyspnea | Coronary stent |
Coronary artery disease (CAD; also atherosclerotic heart disease) is the result of the accumulation of atheromatous plaques within the walls of the coronary arteries that supply the myocardium (the muscle of the heart) with oxygen and nutrients. It...
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| Tobacco smoking | Angina Pectoris | Nitroglycerin | |||
| Old age | Cardiac arrest | Angioplasty | |||
| Hypercholesterolemia | Coronary artery bypass surgery | ||||
| Heredity | Beta blocker | ||||
| more ▼ | |||||
| x Cowden syndrome |
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Cowden syndrome (also known as "Cowden's disease," and "Multiple hamartoma syndrome") is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer....
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| x Cri du chat |
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Micrognathism |
Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term (cat-cry or call of the cat) referring to the...
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| Strabismus | |||||
| Aggression | |||||
| Malnutrition | |||||
| Drooling | |||||
| more ▼ | |||||
| x Crouzon syndrome |
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Crouzon syndrome is a genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important...
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| x Crouzonodermoskeletal syndrome |
Crouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.
Some of the signs and symptoms of...
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| x Cystic fibrosis |
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Family history of Cystic fibrosis | Dyspnea | Pneumococcal vaccine |
Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across...
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| Vitamin E deficiency | Clubbing | Bronchodilator | |||
| Diarrhea | Non-steroidal anti-inflammatory drug | ||||
| Rectal prolapse | Acetylcysteine | ||||
| Steatorrhea | Antibiotic | ||||
| more ▼ | more ▼ | ||||
| x De Grouchy syndrome |
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De Grouchy syndrome was first described in the 1960's. Initially, the phrase referred to any deletion of chromosome 18, with "de Grouchy syndrome 1" referring to a deletion on the short arm of chromosome 18, and de Grouchy syndrome 2 referring to a...
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| x Down syndrome |
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Family history of Down syndrome | Brushfield spots |
Down syndrome or Down's syndrome, also known as trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866....
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| Advancing maternal age | Hypotonia | ||||
| Genetic predisposition to Down syndrome | Mental retardation | ||||
| Congenital heart defect | |||||
| Leukemia | |||||
| more ▼ | |||||
| x Duchenne muscular dystrophy |
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Fatigue |
Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, which results in muscle degeneration, difficulty walking, breathing, and death. The incidence is around 1 in 3,600 boys. Females and males are affected, though...
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| Muscle atrophy | |||||
| Muscle weakness | |||||
| Toe walking | |||||
| Motor skills disorder | |||||
| more ▼ | |||||
| x Edwards syndrome |
Edwards syndrome (also known as Trisomy 18 (T18) or Trisomy E) is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. It is named after John H. Edwards, who first described the syndrome in 1960. It is the second...
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| x Ehlers-Danlos syndrome |
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Ehlers–Danlos syndrome (EDS) (also known as Cutis hyperelastica) is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen (Type I or III). The collagen in connective tissue helps tissues to resist...
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