MCID: WLL010
MIFTS: 31

Woolly Hair Syndrome malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Woolly Hair Syndrome

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Sources:
26GTR, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 53Orphanet, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Woolly Hair Syndrome:

Name: Woolly Hair Syndrome 47
Woolly Hair 47 53 26
Hereditary Woolly Hair Syndrome 53
Hereditary Wooly Hair Syndrome 53
Familial Woolly Hair Syndrome 53
 
Familial Wooly Hair Syndrome 53
Hereditary Woolly Hair 47
Familial Woolly Hair 47
Wooly Hair 53

Characteristics:

Orphanet epidemiological data:

53
woolly hair:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

Orphanet53 ORPHA170
MESH via Orphanet39 C536745
UMLS via Orphanet68 C0343073, C0345427
ICD10 via Orphanet30 Q84.1

Summaries for Woolly Hair Syndrome

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MalaCards based summary: Woolly Hair Syndrome, also known as woolly hair, is related to skin fragility-woolly hair syndrome and cardiomyopathy, dilated, with woolly hair and keratoderma, and has symptoms including fine hair, woolly hair and slow-growing hair. An important gene associated with Woolly Hair Syndrome is LIPH (Lipase H). Affiliated tissues include skin and retina, and related mouse phenotype integument.

Related Diseases for Woolly Hair Syndrome

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Graphical network of diseases related to Woolly Hair Syndrome:



Diseases related to woolly hair syndrome

Symptoms for Woolly Hair Syndrome

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Human phenotypes related to Woolly Hair Syndrome:

 63 53 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fine hair63 53 hallmark (90%) Very frequent (99-80%) HP:0002213
2 woolly hair63 53 hallmark (90%) Very frequent (99-80%) HP:0002224
3 slow-growing hair63 53 typical (50%) Frequent (79-30%) HP:0002217
4 hypopigmentation of hair63 53 typical (50%) Frequent (79-30%) HP:0005599
5 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
6 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
7 abnormality of the pupil63 53 occasional (7.5%) Occasional (29-5%) HP:0000615
8 abnormality of the retinal vasculature63 occasional (7.5%) HP:0008046
9 abnormal hair quantity63 occasional (7.5%) HP:0011362
10 aplasia/hypoplasia of the eyebrow63 occasional (7.5%) HP:0100840
11 abnormality of the retina53 Occasional (29-5%)
12 sparse body hair53 Occasional (29-5%)
13 brittle hair53 Very frequent (99-80%)
14 sparse lateral eyebrow53 Occasional (29-5%)
15 abnormality of hair texture53 Very frequent (99-80%)

Drugs & Therapeutics for Woolly Hair Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Woolly Hair Syndrome

Genetic Tests for Woolly Hair Syndrome

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Genetic tests related to Woolly Hair Syndrome:

id Genetic test Affiliating Genes
1 Woolly Hair26

Anatomical Context for Woolly Hair Syndrome

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MalaCards organs/tissues related to Woolly Hair Syndrome:

35
Skin, Retina

Animal Models for Woolly Hair Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Woolly Hair Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1DSP, KRT25, KRT71, LIPH

Publications for Woolly Hair Syndrome

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Articles related to Woolly Hair Syndrome:

idTitleAuthorsYear
1
The medusa head: dermoscopic diagnosis of woolly hair syndrome. (23180934)
2012
2
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. (20738328)
2011
3
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. (11841538)
2002

Variations for Woolly Hair Syndrome

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Expression for genes affiliated with Woolly Hair Syndrome

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Search GEO for disease gene expression data for Woolly Hair Syndrome.

Pathways for genes affiliated with Woolly Hair Syndrome

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GO Terms for genes affiliated with Woolly Hair Syndrome

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Cellular components related to Woolly Hair Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.1DSP, KRT25
2keratin filamentGO:00450959.0KRT71, KRT74

Biological processes related to Woolly Hair Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeleton organizationGO:00451049.4DSP, KRT74
2hair follicle morphogenesisGO:00310698.9KRT25, KRT71
3intermediate filament organizationGO:00451098.5DSP, KRT25, KRT71

Molecular functions related to Woolly Hair Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051988.0DSP, KRT25, KRT71, KRT74

Sources for Woolly Hair Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet