ADWH
MCID: WLL018
MIFTS: 16

Woolly Hair, Autosomal Dominant (ADWH) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Woolly Hair, Autosomal Dominant

About this section

Aliases & Descriptions for Woolly Hair, Autosomal Dominant:

Name: Woolly Hair, Autosomal Dominant 52 12
Woolly Hair Autosomal Dominant 70 27
 
Adwh 70

Characteristics:

HPO:

64
woolly hair, autosomal dominant:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 194300
MedGen37 C1860238
MeSH39 D006201

Summaries for Woolly Hair, Autosomal Dominant

About this section
OMIM:52 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, also known as woolly hair autosomal dominant, is related to hypotrichosis 8, and has symptoms including coarse hair, slow-growing hair and woolly hair. An important gene associated with Woolly Hair, Autosomal Dominant is KRT74 (Keratin 74).

UniProtKB/Swiss-Prot:70 Woolly hair autosomal dominant: 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.

Related Diseases for Woolly Hair, Autosomal Dominant

About this section

Diseases in the Woolly Hair Syndrome family:

woolly hair, autosomal dominant Woolly Hair, Autosomal Recessive
Woolly Hair Autosomal Recessive 3

Diseases related to Woolly Hair, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis 810.9

Symptoms & Phenotypes for Woolly Hair, Autosomal Dominant

About this section

Symptoms by clinical synopsis from OMIM:

194300

Clinical features from OMIM:

194300

Human phenotypes related to Woolly Hair, Autosomal Dominant:

 64
id Description HPO Frequency HPO Source Accession
1 coarse hair64 HP:0002208
2 slow-growing hair64 HP:0002217
3 woolly hair64 HP:0002224
4 dry hair64 HP:0011359

Drugs & Therapeutics for Woolly Hair, Autosomal Dominant

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Woolly Hair, Autosomal Dominant

Genetic Tests for Woolly Hair, Autosomal Dominant

About this section

Genetic tests related to Woolly Hair, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Woolly Hair, Autosomal Dominant27

Anatomical Context for Woolly Hair, Autosomal Dominant

About this section

Publications for Woolly Hair, Autosomal Dominant

About this section

Variations for Woolly Hair, Autosomal Dominant

About this section

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

70
id Symbol AA change Variation ID SNP ID
1KRT74p.Asn148LysVAR_063587rs267607205

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)SNVPathogenicrs267607205GRCh37Chr 12, 52967118: 52967118
2KRT74KRT74, IVS8AS, G-A, -1SNVPathogenic

Expression for genes affiliated with Woolly Hair, Autosomal Dominant

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

Pathways for genes affiliated with Woolly Hair, Autosomal Dominant

About this section

GO Terms for genes affiliated with Woolly Hair, Autosomal Dominant

About this section

Sources for Woolly Hair, Autosomal Dominant

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet