Autosomal dominant disorders

rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia

T cell deficiency disease that is the result of a large deletion of chromosome 22, which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production

human genetic disorder

disease in which the heart muscle is enlarged

rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs

blood-clotting disorder

congenital, genetically widespread disease considered to be a type of dwarfism affecting boys and girls equally

a rare genetic disorder characterized by visceral cysts and benign tumors in multiple organ systems with potential for subsequent malignant change.

familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease

long term genetic disorder that affects muscle function

group of dominantly inherited, predominately late-onset, cerebellar ataxias. Neuro-developmental outcome and brain-derived neurotrophic factor level in relation to feeding practice in early infancy.

genetic disorder involving capillaries

autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa (melanosis)

rare disease

congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape

rare genetic disorder affecting collagen

human disease

interaction of a dominant allele with a recessive allele resulting in complete expression or non-expression of a trait

inherited skin disorder

genetic disorder inherited in an autosomal dominant manner that is characterized by early, and frequently severe, high blood pressure

syndrome that results in rheumatoid arthritis, splenomegaly and neutropenia

human disease

syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients

Human disease

Adermatoglyphia is an extremely rare genetic disorder that prevents the development of fingerprints. Five extended families worldwide are known to be affected by this condition.

human autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts

autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities

heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart

autosomal dominant disease characterized by congenital anomalies located_in heart and located_in upper limb.

congenital disorder of digestive system

autosomal dominant disease that has material basis in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas

HEREDITARY AMYLOIDOSIS

human disease

macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula

human disease

syndrome characterized by craniofacial dysmorphology, cardiac defects, mild intellectual disability, and high birth weight followed by a failure to thrive and developmental delays

acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin

hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present

rare disease

autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features; the two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C

acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull

autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis

Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.

Piebaldism refers to the absence of mature melanin-forming cells (melanocytes) in certain areas of the skin and hair. It is a rare autosomal dominant disorder of melanocyte development. Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead. There is nevertheless great variation in the degree and pattern of presentation, even within affected families. In some cases, piebaldism occurs together with severe developmental problems, as in Waardenburg syndrome and Hirschsprung's diseas

autosomal dominant genetic disorder involving the kidneys, ears, and neck

Human disease

Pseudoachondroplasia is an inherited disorder of bone growth. It is a genetic autosomal dominant disorder which is linked to mutations in the COMP gen located on chromosome 19. It is generally not discovered until 2–3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a drop of linear growth in contrast to peers, a waddling gait or arising lower limb deformities.

Human disease

disease

extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only six cases around the world, and occurs in 1 in 100 million births

autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment

medical condition

Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. It comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Hair becomes brittle, and breaks off at the thinner parts between the beads. It appears as a thinning or baldness of hair and was first described in 1897 by Walter Smith

Human disease

group of diseases that affect myelopoiesis, causing a congenital form of neutropenia

medical condition

Human disease

acrocephalosyndactylia that has material basis in mutation in the GLI3 gene which results in abnormal development located in limb, located in head, located in face

rare group of autosomal dominant skin disorders that are caused by a mutation in one of five different keratin genes