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MCID: HYP578
MIFTS: 19
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Hypotrichosis 12
Categories:
Genetic diseases, Rare diseases
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MalaCards integrated aliases for Hypotrichosis 12:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
based on 2 unrelated chinese families (last curated july 2014). HPO:32Classifications: |
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UniProtKB/Swiss-Prot
:
75
Hypotrichosis 12: A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT12 patients have normal scalp hair density at birth. Hair loss begins during the first 6 months of life and gradually progresses to nearly complete loss of scalp hair. The remaining hairs grow slowly and are thin, sparse, dry, and fragile. Body hair, axillary and pubic hair, eyebrows and eyelashes are also sparse or absent.
MalaCards based summary : Hypotrichosis 12, is also known as hypt12. An important gene associated with Hypotrichosis 12 is RPL21 (Ribosomal Protein L21). Affiliated tissues include skin, and related phenotypes are hypotrichosis and aplasia/hypoplasia of the eyebrow Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal dominant mutation of RPL21 on chromosome 13q12.2.
Description from OMIM:
615885
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Diseases in the Hypotrichosis family: |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615885Human phenotypes related to Hypotrichosis 12:32
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MalaCards organs/tissues related to Hypotrichosis 12:41
Skin
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Genes related to Hypotrichosis 12 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 12:75
ClinVar genetic disease variations for Hypotrichosis 12:6
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Search
GEO
for disease gene expression data for Hypotrichosis 12.
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