ARWH3
MCID: WLL035
MIFTS: 19

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 56
Autosomal Recessive Woolly Hair 3 12 29 6
Arwh3 56 12 73
Woolly Hair, Autosomal Recessive 3, with Hypotrichosis 56 73
Woolly Hair Autosomal Recessive 3 73

Characteristics:

OMIM:

56
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:

31
woolly hair, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111574
OMIM 56 616760
MeSH 43 D006201

Summaries for Woolly Hair, Autosomal Recessive 3

UniProtKB/Swiss-Prot : 73 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 autosomal recessive woolly hair 3. An important gene associated with Woolly Hair, Autosomal Recessive 3 is KRT25 (Keratin 25). Related phenotypes are sparse scalp hair and fine hair

Disease Ontology : 12 A familial woolly hair syndrome that has material basis in homozygous or compound heterozygous mutation in KRT24 on chromosome 17q21.2.

More information from OMIM: 616760

Related Diseases for Woolly Hair, Autosomal Recessive 3

Diseases in the Familial 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:

31
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 31 HP:0002209
2 fine hair 31 HP:0002213
3 trichorrhexis nodosa 31 HP:0009886
4 sparse eyelashes 31 HP:0000653
5 curly hair 31 HP:0002212

Symptoms via clinical synopsis from OMIM:

56
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

Genetic tests related to Woolly Hair, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Autosomal Recessive Woolly Hair 3 29 KRT25

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. 56 6
26902920 2016
2
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 6 56
26160856 2015

Variations for Woolly Hair, Autosomal Recessive 3

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT25 NM_181534.4(KRT25):c.950T>C (p.Leu317Pro)SNV Pathogenic 217303 rs766783183 17:38907213-38907213 17:40750961-40750961
2 KRT25 NM_181534.4(KRT25):c.712G>T (p.Val238Leu)SNV Pathogenic 242934 rs879253749 17:38907536-38907536 17:40751284-40751284
3 IRS1 NM_005544.2(IRS1):c.158G>A (p.Trp53Ter)SNV Likely pathogenic 804395 2:227663297-227663297 2:226798581-226798581

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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