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Disease Profile

X-linked congenital generalized hypertrichosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

0

US Estimated

Europe Estimated

Age of onset

-

ICD-10

Q84.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

HTC2; CGH; HCG;

Categories

Congenital and Genetic Diseases; Eye diseases; Skin Diseases

Summary

X-linked congenital generalized hypertrichosis is a rare congenital (present at birth) skin disease. It is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with mild facial abnormalities (including nasal openings that are tipped upwards and moderate protrusion of the jaw) and occasional teeth anomalies and deafness. It is caused by a specific abnormality of the X chromosome.[1][2] Inheritance is X-linked. It is important to know if the disease occurs alone (is an isolated form), or if it is part of a genetic syndrome. Treatment includes standard methods for hair removal such as shaving, laser hair removal, electrolysis, chemical methods and others.[3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Scoliosis
0002650
Percent of people who have these symptoms is not available through HPO
Congenital, generalized hypertrichosis
0004540
Hirsutism
Excessive hairiness
0001007
X-linked dominant inheritance
0001423
X-linked inheritance
0001417

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked congenital generalized hypertrichosis. Click on the link to view a sample search on this topic.

References

  1. Hypertrichosis, congenital generalized. OMIM. 2015; https://omim.org/entry/307150#.
  2. X-linked congenital generalized hypertrichosis. Orphanet. 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79495.
  3. PavoneP & cols. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes. Italian Journal of Pediatrics. 2015; 41:55. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526284/.