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 50 68
 
Arwh3 68

Classifications:



External Ids:

MedGen35 CN234890
MeSH37 D006201

Summaries for Woolly Hair Autosomal Recessive 3

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UniProtKB/Swiss-Prot:68 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:50 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:

68
id Symbol AA change Variation ID SNP ID
1KRT25p.Val238LeuVAR_076303
2KRT25p.Leu317ProVAR_076304

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)single nucleotide variantPathogenicrs766783183GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet