MCID: WLL018
MIFTS: 11

Woolly Hair, Autosomal Dominant malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Woolly Hair, Autosomal Dominant

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Aliases & Descriptions for Woolly Hair, Autosomal Dominant:

Name: Woolly Hair, Autosomal Dominant 46 9


Classifications:



External Ids:

OMIM46 194300

Summaries for Woolly Hair, Autosomal Dominant

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OMIM:46 Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair.... (194300) more...

MalaCards based summary: Woolly Hair, Autosomal Dominant and has symptoms including autosomal dominant inheritance, coarse hair and dry hair. An important gene associated with Woolly Hair, Autosomal Dominant is KRT74 (keratin 74).

Related Diseases for Woolly Hair, Autosomal Dominant

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Diseases in the Woolly Hair Syndrome family:

woolly hair, autosomal dominant Woolly Hair, Autosomal Recessive

Symptoms for Woolly Hair, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

194300

Clinical features from OMIM:

194300

HPO human phenotypes related to Woolly Hair, Autosomal Dominant:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 coarse hair HP:0002208
3 dry hair HP:0011359

Drugs & Therapeutics for Woolly Hair, Autosomal Dominant

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Drug clinical trials:

Search ClinicalTrials for Woolly Hair, Autosomal Dominant

Search NIH Clinical Center for Woolly Hair, Autosomal Dominant

Genetic Tests for Woolly Hair, Autosomal Dominant

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Anatomical Context for Woolly Hair, Autosomal Dominant

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Animal Models for Woolly Hair, Autosomal Dominant or affiliated genes

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Publications for Woolly Hair, Autosomal Dominant

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Variations for Woolly Hair, Autosomal Dominant

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UniProtKB/Swiss-Prot genetic disease variations for Woolly Hair, Autosomal Dominant:

63
id Symbol AA change Variation ID SNP ID
1KRT74p.Asn148LysVAR_063587

Clinvar genetic disease variations for Woolly Hair, Autosomal Dominant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT74NM_175053.3(KRT74): c.444C> G (p.Asn148Lys)single nucleotide variantPathogenicrs267607205GRCh37Chr 12, 52967118: 52967118
2KRT74KRT74, IVS8AS, G-A, -1single nucleotide variantPathogenic

Expression for genes affiliated with Woolly Hair, Autosomal Dominant

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Search GEO for disease gene expression data for Woolly Hair, Autosomal Dominant.

Pathways for genes affiliated with Woolly Hair, Autosomal Dominant

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Compounds for genes affiliated with Woolly Hair, Autosomal Dominant

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GO Terms for genes affiliated with Woolly Hair, Autosomal Dominant

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Sources for Woolly Hair, Autosomal Dominant

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet