ARWH3
MCID: WLL035
MIFTS: 17

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 58
Woolly Hair, Autosomal Recessive 3, with Hypotrichosis 58 76
Arwh3 58 76
Woolly Hair Autosomal Recessive 3 76
Autosomal Recessive Woolly Hair 3 6

Characteristics:

OMIM:

58
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:

33
woolly hair, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Woolly Hair, Autosomal Recessive 3

UniProtKB/Swiss-Prot : 76 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

Description 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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypotrichosis 33 HP:0001006
2 sparse scalp hair 33 HP:0002209
3 fine hair 33 HP:0002213
4 curly hair 33 HP:0002212
5 trichorrhexis nodosa 33 HP:0009886
6 sparse eyelashes 33 HP:0000653

Symptoms via clinical synopsis from OMIM:

58
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

Variations for Woolly Hair, Autosomal Recessive 3

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

76
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT25 NM_181534.3(KRT25): c.950T> C (p.Leu317Pro) single nucleotide variant Pathogenic rs766783183 GRCh37 Chromosome 17, 38907213: 38907213
2 KRT25 NM_181534.3(KRT25): c.950T> C (p.Leu317Pro) single nucleotide variant Pathogenic rs766783183 GRCh38 Chromosome 17, 40750961: 40750961
3 KRT25 NM_181534.3(KRT25): c.712G> T (p.Val238Leu) single nucleotide variant Pathogenic rs879253749 GRCh37 Chromosome 17, 38907536: 38907536
4 KRT25 NM_181534.3(KRT25): c.712G> T (p.Val238Leu) single nucleotide variant Pathogenic rs879253749 GRCh38 Chromosome 17, 40751284: 40751284

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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