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Kallmann syndrome 1
Other Names for this Disease
- KAL1
- Kallmann syndrome, type 1, X-linked
- Kallmann syndrome, X-linked
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Overview
Kallmann syndrome 1 is an inherited disorder characterized by delayed or absent puberty and an impaired sense of smell. Other symptoms may include color blindness, cleft lip or palate, abnormal eye movements, hearing loss, failure of one of the kidneys to develop, mirror image hand movements, abnormalities of tooth development, and infertility. This disorder is a form of hypogonadotropic hypogonadism. Affected males are usually born with a small penis and undescended testicles. Affected females usually do not begin menstruating at puberty and have little or no breast development.[1][2] Kallmann syndrome 1 is the most common type of Kallmann syndrome (there are four types identified at this time). It is caused by mutations in the KAL1 gene and is inherited in an X-linked recessive fashion.[1]
References
- Kallmann syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/kallmann-syndrome. Accessed December 22, 2011.
- Pallais JC, Au M, Pitteloud N, Seminara S, Crowley WE. Kallmann syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1334/. Accessed December 22, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Kallmann syndrome 1. Click on the link to go to GHR and review the information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Kallmann syndrome 1. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Kallmann syndrome 1. Click on the link to go to OMIM and review these resources.