MCID: WLL010
MIFTS: 33

Woolly Hair Syndrome malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Woolly Hair Syndrome

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Sources:
46NIH Rare Diseases, 52Orphanet, 25GTR, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Woolly Hair Syndrome:

Name: Woolly Hair Syndrome 46
Woolly Hair 46 52 25
Hereditary Woolly Hair Syndrome 52
Hereditary Wooly Hair Syndrome 52
Familial Woolly Hair Syndrome 52
 
Familial Wooly Hair Syndrome 52
Hereditary Woolly Hair 46
Familial Woolly Hair 46
Wooly Hair 52

Characteristics:

Orphanet epidemiological data:

52
woolly hair:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

Orphanet52 ORPHA170
ICD10 via Orphanet29 Q84.1
MESH via Orphanet38 C536745
UMLS via Orphanet67 C0343073, C0345427

Summaries for Woolly Hair Syndrome

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MalaCards based summary: Woolly Hair Syndrome, also known as woolly hair, is related to palmoplantar keratoderma and woolly hair and skin fragility-woolly hair syndrome, 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 the top 20 diseases related to Woolly Hair Syndrome:



Diseases related to woolly hair syndrome

Symptoms for Woolly Hair Syndrome

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Symptoms:

 52 (show all 12)
  • abnormality of the retina
  • strabismus
  • cataract
  • abnormality of the pupil
  • fine hair
  • slow-growing hair
  • woolly hair
  • sparse body hair
  • brittle hair
  • sparse lateral eyebrow
  • hypopigmentation of hair
  • abnormality of hair texture

HPO human phenotypes related to Woolly Hair Syndrome:

(show all 10)
id Description Frequency HPO Source Accession
1 fine hair hallmark (90%) HP:0002213
2 woolly hair hallmark (90%) HP:0002224
3 slow-growing hair typical (50%) HP:0002217
4 hypopigmentation of hair typical (50%) HP:0005599
5 strabismus occasional (7.5%) HP:0000486
6 cataract occasional (7.5%) HP:0000518
7 abnormality of the pupil occasional (7.5%) HP:0000615
8 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
9 abnormal hair quantity occasional (7.5%) HP:0011362
10 aplasia/hypoplasia of the eyebrow occasional (7.5%) HP:0100840

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 Hair25

Anatomical Context for Woolly Hair Syndrome

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MalaCards organs/tissues related to Woolly Hair Syndrome:

34
Skin, Retina

Animal Models for Woolly Hair Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Woolly Hair Syndrome:

39
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet