ⓘ Genetic diseases and disorders ..

Genetic disorder

A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene or multiple genes or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. Some disorders are caused by a mutation on the X chromoso ...


Sclerosteosis is an autosomal recessive disorder characterized by bone overgrowth. It was first described in 1958 but given the current name in 1967. Excessive bone formation is most prominent in the skull, mandible and tubular bones. It can cause facial distortion and syndactyly. Increased intracranial pressure can cause sudden death in patients. It is a rare disorder that is most prominent in the Afrikaner population in South Africa, but there have also been cases of American and Brazilian families.

3-Hydroxyisobutyryl-CoA deacylase deficiency

3-Hydroxyisobutyryl-CoA deacylase deficiency is a rare autosomal recessive condition that is associated with severely delayed psychomotor development, neurodegeneration, increased lactic acid and brain lesions in the basal ganglia. Fewer than 10 patients have been described with this condition.

7q11.23 duplication syndrome

7q11.23 duplication syndrome is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7. This syndrome is characterized by a wide spectrum of neurological, behavior and other medical problems which may appear in different levels of severity. Common characteristics are speech and sound disorder CAS - childhood apraxia of speech, dysarthria, delayed development, delayed motor development and clumsiness, anxiety especially on social conditions, selective mutism in 20% of the subjects, ADHD, oppositional disorder, ASD in 20%, intellectual disa ...

ACDC (medicine)

Arterial calcification due to deficiency of CD73 is a rare genetic disorder that causes calcium buildup in the arteries and joints of the hands and feet, and other areas below the waist. Although patients exhibiting these symptoms have been identified as early as 1914, this disorder had not been studied extensively until recently. The identification of the specific ACDC gene and mutations occurred in 2011. ACDC is caused by a mutation in the NT5E gene, which prevents calcium-removing agents from functioning. Patients afflicted with this mutation suffer from chronic pain, difficulty moving, ...

Acrofrontofacionasal dysostosis

Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia, and anomalies of foot structure. An association with mutations in the neuroblastoma amplified sequence gene NBAS has been reported. This gene is located on the short arm of chromosome 2. Mutations in this gene have been associated with the Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly syndrome and Infantile Liver Failure Syndrome.


ⓘ Genetic diseases and disorders

  • few disorders are inherited on the Y chromosome or mitochondrial DNA. There are well over 6, 000 known genetic disorders and new genetic disorders are
  • following is a list of genetic disorders and if known, type of mutation and the chromosome involved. Although the parlance disease - causing gene is common
  • Related Disorders Bone and Joints Related Growth Disorders Eye Disorders Gastro - Intestinal Disorders Hearing Disorders Lysosomal Disorders Multi - system
  • Huntington s disease - like syndromes HD - like syndromes, or HDL syndromes are a family of inherited neurodegenerative diseases that closely resemble Huntington s
  • twitches Neuromuscular disease can be caused by autoimmune disorders genetic hereditary disorders and some forms of the collagen disorder Ehlers Danlos Syndrome
  • of disease infectious diseases deficiency diseases hereditary diseases including both genetic diseases and non - genetic hereditary diseases and physiological
  • range of possible disorders Chronic genetic diseases are commonly classified as rare. Among numerous possibilities, rare diseases may result from bacterial
  • Hematologic diseases are disorders which primarily affect the blood blood - forming organs. Hematologic diseases include rare genetic disorders anemia
  • include genetic disorders congenital abnormalities or disorders infections, lifestyle or environmental health problems including malnutrition, and brain
  • February 1996 Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders Clinical Genetics. 49 2 57 8
  • of endocrine diseases List of eye diseases and disorders List of intestinal diseases List of infectious diseases List of human disease case fatality


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