ARWH3
MCID: WLL035
MIFTS: 18

Woolly Hair, Autosomal Recessive 3 (ARWH3)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Woolly Hair, Autosomal Recessive 3

MalaCards integrated aliases for Woolly Hair, Autosomal Recessive 3:

Name: Woolly Hair, Autosomal Recessive 3 57
Woolly Hair, Autosomal Recessive 3, with Hypotrichosis 57 74
Arwh3 57 74
Woolly Hair Autosomal Recessive 3 74
Autosomal Recessive Woolly Hair 3 6

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
hair is soft, short, and sparse initially, but develops into woolly hair in early childhood
abnormalities observed in 70% of hair shafts examined
affected individuals cut hair only once every 3 to 4 years


HPO:

32
woolly hair, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616760
MeSH 44 D006201

Summaries for Woolly Hair, Autosomal Recessive 3

UniProtKB/Swiss-Prot : 74 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 woolly hair, autosomal recessive 3, with hypotrichosis. An important gene associated with Woolly Hair, Autosomal Recessive 3 is KRT25 (Keratin 25). Related phenotypes are hypotrichosis and sparse scalp hair

More information from OMIM: 616760

Related Diseases for Woolly Hair, Autosomal Recessive 3

Diseases in the Woolly Hair Syndrome family:

Woolly Hair, Autosomal Dominant Woolly Hair, Autosomal Recessive 3

Symptoms & Phenotypes for Woolly Hair, Autosomal Recessive 3

Human phenotypes related to Woolly Hair, Autosomal Recessive 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypotrichosis 32 HP:0001006
2 sparse scalp hair 32 HP:0002209
3 fine hair 32 HP:0002213
4 curly hair 32 HP:0002212
5 trichorrhexis nodosa 32 HP:0009886
6 sparse eyelashes 32 HP:0000653

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Hair:
trichorrhexis nodosa
tightly curled scalp hair
thin hair
gradient reduction of hair density from occipital area to frontal region
variable hair shaft diameter
more
Head And Neck Eyes:
sparse eyelashes (in some patients)

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

Articles related to Woolly Hair, Autosomal Recessive 3:

# Title Authors PMID Year
1
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. 8 71
26902920 2016
2
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 8 71
26160856 2015

Variations for Woolly Hair, Autosomal Recessive 3

ClinVar genetic disease variations for Woolly Hair, Autosomal Recessive 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KRT25 NM_181534.4(KRT25): c.950T> C (p.Leu317Pro) single nucleotide variant Pathogenic rs766783183 17:38907213-38907213 17:40750961-40750961
2 KRT25 NM_181534.4(KRT25): c.712G> T (p.Val238Leu) single nucleotide variant Pathogenic rs879253749 17:38907536-38907536 17:40751284-40751284

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

74
# Symbol AA change Variation ID SNP ID
1 KRT25 p.Val238Leu VAR_076303 rs879253749
2 KRT25 p.Leu317Pro VAR_076304 rs766783183
3 KRT25 p.Leu376Arg VAR_079711

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
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....