ADWH
MCID: WLL018
MIFTS: 17

Woolly Hair, Autosomal Dominant (ADWH)

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 57 29 13 6 40
Adwh 57 75
Woolly Hair Autosomal Dominant 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
woolly hair, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 194300
MedGen 42 C1860238
MeSH 44 D006201

Summaries for Woolly Hair, Autosomal Dominant

OMIM : 57 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. An important gene associated with Woolly Hair, Autosomal Dominant is KRT74 (Keratin 74). Affiliated tissues include skin, and related phenotypes are coarse hair and woolly hair

UniProtKB/Swiss-Prot : 75 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:

57
Skin Nails Hair Hair:
coarse hair
dry hair
tightly curled scalp 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:

32
# Description HPO Frequency HPO Source Accession
1 coarse hair 32 HP:0002208
2 woolly hair 32 HP:0002224
3 slow-growing hair 32 HP:0002217
4 dry hair 32 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 29 KRT74

Anatomical Context for Woolly Hair, Autosomal Dominant

MalaCards organs/tissues related to Woolly Hair, Autosomal Dominant:

41
Skin

Publications for Woolly Hair, Autosomal Dominant

Variations for Woolly Hair, Autosomal Dominant

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

75
# 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 NM_175053.3(KRT74): c.444C> G (p.Asn148Lys) single nucleotide variant Pathogenic rs267607205 GRCh37 Chromosome 12, 52967118: 52967118
2 KRT74 NM_175053.3(KRT74): c.444C> G (p.Asn148Lys) single nucleotide variant Pathogenic rs267607205 GRCh38 Chromosome 12, 52573334: 52573334
3 KRT74 KRT74, IVS8AS, G-A, -1 single nucleotide variant Pathogenic

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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