ARWH3
MCID: WLL033
MIFTS: 9

Woolly Hair Autosomal Recessive 3 (ARWH3) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Woolly Hair Autosomal Recessive 3

Aliases & Descriptions for Woolly Hair Autosomal Recessive 3:

Name: Woolly Hair Autosomal Recessive 3 54 66
Arwh3 66

Classifications:



External Ids:

MedGen 40 CN234890
MeSH 42 D006201

Summaries for Woolly Hair Autosomal Recessive 3

UniProtKB/Swiss-Prot : 66 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).

Related Diseases for Woolly Hair Autosomal Recessive 3

Diseases in the Woolly Hair Syndrome family:

Woolly Hair, Autosomal Dominant Woolly Hair, Autosomal Recessive
Woolly Hair Autosomal Recessive 3

Symptoms & Phenotypes for Woolly Hair Autosomal Recessive 3

Clinical features from OMIM:

616760

Drugs & Therapeutics for Woolly Hair Autosomal Recessive 3

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

Genetic Tests for Woolly Hair Autosomal Recessive 3

Anatomical Context for Woolly Hair Autosomal Recessive 3

Publications for Woolly Hair Autosomal Recessive 3

Variations for Woolly Hair Autosomal Recessive 3

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

66
id Symbol AA change Variation ID SNP ID
1 KRT25 p.Val238Leu VAR_076303
2 KRT25 p.Leu317Pro VAR_076304 rs766783183

ClinVar genetic disease variations for Woolly Hair Autosomal Recessive 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT25 NM_181534.3(KRT25): c.950T> C (p.Leu317Pro) single nucleotide variant Pathogenic rs766783183 GRCh37 Chromosome 17, 38907213: 38907213

Expression for Woolly Hair Autosomal Recessive 3

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

Pathways for Woolly Hair Autosomal Recessive 3

GO Terms for Woolly Hair Autosomal Recessive 3

Sources for Woolly Hair Autosomal Recessive 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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