ARWH3
MCID: WLL035
MIFTS: 23
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Woolly Hair, Autosomal Recessive 3 (ARWH3)
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 (Updated 05-Mar-2021)
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:31Classifications: |
UniProtKB/Swiss-Prot :
73
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, also known as autosomal recessive woolly hair 3, is related to hypotrichosis 13 and hypotrichosis. An important gene associated with Woolly Hair, Autosomal Recessive 3 is KRT25 (Keratin 25), and among its related pathways/superpathways is Relaxin signaling pathway. Related phenotypes are sparse scalp hair and fine hair Disease Ontology : 12 A familial woolly hair syndrome that has material basis in homozygous or compound heterozygous mutation in KRT24 on chromosome 17q21.2.
More information from OMIM:
616760
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Diseases in the Familial Woolly Hair Syndrome family:
Diseases related to Woolly Hair, Autosomal Recessive 3 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Woolly Hair, Autosomal Recessive 3:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616760 (Updated 05-Mar-2021) |
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Articles related to Woolly Hair, Autosomal Recessive 3:
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ClinVar genetic disease variations for Woolly Hair, Autosomal Recessive 3:6
UniProtKB/Swiss-Prot genetic disease variations for Woolly Hair, Autosomal Recessive 3:73
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Search
GEO
for disease gene expression data for Woolly Hair, Autosomal Recessive 3.
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