MCID: WLL033

Woolly Hair Autosomal Recessive 3 malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Woolly Hair Autosomal Recessive 3

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Aliases & Descriptions for Woolly Hair Autosomal Recessive 3:

Name: Woolly Hair Autosomal Recessive 3 51 69
 
Arwh3 69

Classifications:



External Ids:

MedGen36 CN234890
MeSH38 D006201

Summaries for Woolly Hair Autosomal Recessive 3

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UniProtKB/Swiss-Prot:69 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 arwh3 An important gene associated with Woolly Hair Autosomal Recessive 3 is KRT25 (Keratin 25).

Description from OMIM:51 616760

Related Diseases for Woolly Hair Autosomal Recessive 3

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Diseases in the Woolly Hair Syndrome family:

Woolly Hair, Autosomal Dominant Woolly Hair, Autosomal Recessive
woolly hair autosomal recessive 3

Symptoms for Woolly Hair Autosomal Recessive 3

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Clinical features from OMIM:

616760

Drugs & Therapeutics for Woolly Hair Autosomal Recessive 3

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Woolly Hair Autosomal Recessive 3

Genetic Tests for Woolly Hair Autosomal Recessive 3

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Anatomical Context for Woolly Hair Autosomal Recessive 3

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Animal Models for Woolly Hair Autosomal Recessive 3 or affiliated genes

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Publications for Woolly Hair Autosomal Recessive 3

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Variations for Woolly Hair Autosomal Recessive 3

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UniProtKB/Swiss-Prot genetic disease variations for Woolly Hair Autosomal Recessive 3:

69
id Symbol AA change Variation ID SNP ID
1KRT25p.Val238LeuVAR_076303
2KRT25p.Leu317ProVAR_076304rs766783183

Clinvar genetic disease variations for Woolly Hair Autosomal Recessive 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT25NM_181534.3(KRT25): c.950T> C (p.Leu317Pro)SNVPathogenicrs766783183GRCh37Chr 17, 38907213: 38907213

Expression for genes affiliated with Woolly Hair Autosomal Recessive 3

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Search GEO for disease gene expression data for Woolly Hair Autosomal Recessive 3.

Pathways for genes affiliated with Woolly Hair Autosomal Recessive 3

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GO Terms for genes affiliated with Woolly Hair Autosomal Recessive 3

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Sources for Woolly Hair Autosomal Recessive 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet