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Chromosome 15q duplication is an extremely rare genetic disorder in which there is an excess copy of a segment of DNA found on the long ("q") arm of human chromosome 15. As a result, affected cells contain a total of 3 copies of the duplicated bases, instead of the usual 2 copies - one inherited from the mother and one from the father - found in a normal human diploid genome.
Gardner's syndrome is a subtype of familial adenomatous polyposis (FAP). Gardner syndrome is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas, as well as the occurrence of desmoid tumors in approximately 15% of affected individuals.
A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring. Ring chromosomes were first discovered by Lilian Vaughan Morgan in 1926. A ring chromosome is denoted by the symbol r in human genetics and R in Drosophila genetics. Ring chromosomes may form in cells following genetic damage by mutagens like radiation, but they may also arise spontaneously during development.
Mitochondrial trifunctional protein deficiency is an autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats to energy, particularly during periods without food. People with this disorder have inadequate levels of an enzyme that breaks down a certain group of fats called long-chain fatty acids.
Lucey–Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism. It is one of several disorders classified as a transient familial neonatal unconjugated hyperbilirubinemia.
Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase (UROD).
Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and Naegeli syndrome, is a rare autosomal dominant form of ectodermal dysplasia, characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and hyperkeratosis of the palms and soles. One of the most striking features is the absence of fingerprint lines on the fingers.
Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers, which causes the heartbeat to become fast and irregular.
Upington disease is an extremely rare autosomal dominant malformation disorder. It has only one published source claiming its existence in three generations of one family from South Africa.
Hypervalinemia is a rare autosomal recessive metabolic disorder in which urinary and serum levels of the branched-chain amino acid valine are elevated, without related elevation of the branched-chain amino acids leucine and isoleucine. It is caused by a deficiency of the enzyme valine transaminase.
Naxos disease is a cutaneous condition characterized by a palmoplantar keratoderma. The prevalence of the syndrome is up to 1 in every 1000 people in the Greek islands.
Pilotto syndrome is a rare syndrome which affects the face, heart, and back. The syndrome can cause a cleft lip and palate, scoliosis, and mental retardation. The Office of Rare Diseases and National Institutes of Health have classified this syndrome as affecting less than 200,000 people in the United States.
Aniridia ataxia renal agenesis psychomotor retardation is a rare genetic disorder characterized by missing irises of the eye, ataxia, psychomotor retardation and abnormal kidneys. It is detected via genetic test.
Lyngstadaas syndrome, also known as severe dental aberrations in familial steroid dehydrogenase deficiency, is a rare autosomal recessive liver disease involving an enzyme deficiency and dental anomalies. The disease is named after the Norwegian professor Ståle Petter Lyngstadaas.
Abdominal chemodectomas with cutaneous angiolipomas is a skin disease that presents with angiolipomas in the skin and chemodectomas. It is inherited in an autosomal dominant manner.
Familial multiple lipomatosis is a hereditary adipose tissue disorder that is characterized by the formation of multiple lipomas that occur in a particular distribution. The lipomas are well-encapsulated, slow-growing, benign fatty tumors. The distribution is defined as being focused in the trunk of the body and extremities. Familial Multiple Lipomatosis can be identified when multiple lipomas occur in multiple family members that span different generations. Some people may have hundreds of lipomas present.
Leucine-sensitive hypoglycemia of infancy is a type of metabolic disorder. It is inherited in an autosomal dominant fashion. It is rare.
Nathalie syndrome is a rare genetic developmental defect during embryogenesis disorder and is thought to be hereditary.
Jones syndrome is an extremely rare disorder characterized by gingival fibromatosis and sensorineural hearing loss. The condition is an inherited but the underlying genetic cause is currently unknown.
Heart-hand syndrome, Slovenian type is a rare autosomal dominant genetic disorder belonging to the heart-hand syndromes.
References
- ↑ "Familial progressive cardiac conduction defect | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2022-01-18.
- 1 2 "Familial progressive cardiac conduction defect | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2022-01-18.
- ↑ "Progressive Cardiac Conduction Defect - an overview | ScienceDirect Topics". www.sciencedirect.com. Retrieved 2022-01-18.