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MCID: WLL035
MIFTS: 17
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Woolly Hair, Autosomal Recessive 3
Categories:
Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Woolly Hair, Autosomal Recessive 3:
Name: Woolly Hair, Autosomal Recessive 3
57
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
hair is soft, short, and sparse initially, but develops into woolly hair in early childhood abnormalities observed in 70% of hair shafts examined affected individuals cut hair only once every 3 to 4 years HPO:32Classifications: |
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UniProtKB/Swiss-Prot
:
75
Woolly hair autosomal recessive 3: A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis.
MalaCards based summary : Woolly Hair, Autosomal Recessive 3, is also known as woolly hair, autosomal recessive 3, with hypotrichosis. An important gene associated with Woolly Hair, Autosomal Recessive 3 is KRT25 (Keratin 25). Related phenotypes are sparse eyelashes and hypotrichosis
Description from OMIM:
616760
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Diseases in the Woolly Hair Syndrome family:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616760Human phenotypes related to Woolly Hair, Autosomal Recessive 3:32 (show all 6)
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Genes related to Woolly Hair, Autosomal Recessive 3 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Woolly Hair, Autosomal Recessive 3:75
ClinVar genetic disease variations for Woolly Hair, Autosomal Recessive 3:6
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Search
GEO
for disease gene expression data for Woolly Hair, Autosomal Recessive 3.
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