MCID: WLL018
MIFTS: 16

Woolly Hair, Autosomal Dominant

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Woolly Hair, Autosomal Dominant

MalaCards integrated aliases for Woolly Hair, Autosomal Dominant:

Name: Woolly Hair, Autosomal Dominant 53 28 13
Adwh 53 71
Woolly Hair Autosomal Dominant 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
hair phenotype present at birth and involves entire scalp region


HPO:

31
woolly hair, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 194300
MedGen 39 C1860238
MeSH 41 D006201

Summaries for Woolly Hair, Autosomal Dominant

OMIM : 53 Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends. WH can appear as part of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (summary by Petukhova et al., 2009). See 278150 for a discussion of genetic heterogeneity of autosomal recessive woolly hair. (194300)

MalaCards based summary : Woolly Hair, Autosomal Dominant, is also known as adwh, and has symptoms including coarse hair, woolly hair and slow-growing hair. An important gene associated with Woolly Hair, Autosomal Dominant is KRT74 (Keratin 74).

UniProtKB/Swiss-Prot : 71 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

Diseases in the Woolly Hair Syndrome family:

Woolly Hair, Autosomal Dominant Woolly Hair, Autosomal Recessive 3

Symptoms & Phenotypes for Woolly Hair, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Hair:
tightly curled scalp hair
coarse hair
dry hair
slow-growing hair (growth stops at a few inches)
dystrophic anagen hairs
more

Clinical features from OMIM:

194300

Human phenotypes related to Woolly Hair, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 coarse hair 31 HP:0002208
2 woolly hair 31 HP:0002224
3 slow-growing hair 31 HP:0002217
4 dry hair 31 HP:0011359

Drugs & Therapeutics for Woolly Hair, Autosomal Dominant

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

Genetic Tests for Woolly Hair, Autosomal Dominant

Genetic tests related to Woolly Hair, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Woolly Hair, Autosomal Dominant 28 KRT74

Anatomical Context for Woolly Hair, Autosomal Dominant

Publications for Woolly Hair, Autosomal Dominant

Variations for Woolly Hair, Autosomal Dominant

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

71
# Symbol AA change Variation ID SNP ID
1 KRT74 p.Asn148Lys VAR_063587 rs267607205

ClinVar genetic disease variations for Woolly Hair, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT74 KRT74, IVS8AS, G-A, -1 single nucleotide variant Pathogenic
2 KRT74 NM_175053.3(KRT74): c.444C> G (p.Asn148Lys) single nucleotide variant Pathogenic rs267607205 GRCh37 Chromosome 12, 52967118: 52967118

Expression for Woolly Hair, Autosomal Dominant

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

Pathways for Woolly Hair, Autosomal Dominant

GO Terms for Woolly Hair, Autosomal Dominant

Sources for Woolly Hair, Autosomal Dominant

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