MCID: WLL010
MIFTS: 34

Woolly Hair Syndrome malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Woolly Hair Syndrome

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Sources:
27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Woolly Hair Syndrome:

Name: Woolly Hair Syndrome 48
Woolly Hair 48 54 27
Hereditary Woolly Hair Syndrome 54
Hereditary Wooly Hair Syndrome 54
Familial Woolly Hair Syndrome 54
 
Familial Wooly Hair Syndrome 54
Hereditary Woolly Hair 48
Familial Woolly Hair 48
Wooly Hair 54

Characteristics:

Orphanet epidemiological data:

54
woolly hair:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

Orphanet54 ORPHA170
MESH via Orphanet40 C536745
UMLS via Orphanet69 C0343073, C0345427
ICD10 via Orphanet31 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 Array, Array and Array. An important gene associated with Woolly Hair Syndrome is KRT25 (Keratin 25), and among its related pathways are Developmental Biology and Keratinization. Affiliated tissues include skin and retina, and related mouse phenotype integument.

Related Diseases for Woolly Hair Syndrome

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Diseases in the Woolly Hair Syndrome family:

Woolly Hair, Autosomal Dominant Woolly Hair, Autosomal Recessive
Woolly Hair Autosomal Recessive 3

Diseases related to Woolly Hair Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1skin fragility-woolly hair syndrome12.4
2cardiomyopathy, dilated, with woolly hair and keratoderma11.3
3skin fragility-woolly hair-palmoplantar keratoderma syndrome11.2
4epidermal nevus, somatic11.0
5hypotrichosis 1311.0
6woolly hair, hypotrichosis, everted lower lip, and outstanding ears11.0
7hypotrichosis10.1
8pallister-killian syndrome10.0DSP, KRT74
9epidermolysis bullosa, lethal acantholytic10.0DSP, KRT74
10chromosome 15q11-q13 duplication syndrome10.0DSP, KRT74
11cataract 15, multiple types10.0KRT74, LPAR6
12hypotrichosis simplex9.9
13keratosis pilaris9.9
14keratosis9.9
15ventricular tachycardia, catecholaminergic polymorphic, 49.9DSP, KRT74
16hair disease9.8
1717-alpha-hydroxylase-deficient congenital adrenal hyperplasia9.7KRT25, LIPH, LPAR6
18mitochondrial complex deficiency, nuclear type 49.7KRT74, LIPH, LPAR6
19ichthyosis, acquired9.7KRT74, LIPH, LPAR6
20spastic paraplegia 14, autosomal recessive9.6KRT25, KRT74, LIPH, LPAR6
21pyoderma9.6DSP, KRT74, LIPH, LPAR6
22congenital disorder of glycosylation, type ip9.5KRT25, KRT74, LIPH, LPAR6
23hypotrichosis 39.3KRT25, KRT71, KRT74, LIPH, LPAR6
24mesenchymal chondrosarcoma9.3KRT25, KRT71, KRT74, LIPH, LPAR6
25x-linked intellectual disability with or without nystagmus9.2DSP, KRT25, KRT71, KRT74, LIPH, LPAR6

Graphical network of the top 20 diseases related to Woolly Hair Syndrome:



Diseases related to woolly hair syndrome

Symptoms & Phenotypes for Woolly Hair Syndrome

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Human phenotypes related to Woolly Hair Syndrome:

 54 64 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the retina64 54 Occasional (29-5%) HP:0000479
2 strabismus64 54 Occasional (29-5%) HP:0000486
3 cataract64 54 Occasional (29-5%) HP:0000518
4 abnormality of the pupil64 54 Occasional (29-5%) HP:0000615
5 fine hair64 54 Very frequent (99-80%) HP:0002213
6 slow-growing hair64 54 Frequent (79-30%) HP:0002217
7 woolly hair64 54 Very frequent (99-80%) HP:0002224
8 sparse body hair64 54 Occasional (29-5%) HP:0002231
9 brittle hair64 54 Very frequent (99-80%) HP:0002299
10 sparse lateral eyebrow64 54 Occasional (29-5%) HP:0005338
11 hypopigmentation of hair64 54 Frequent (79-30%) HP:0005599
12 abnormality of hair texture54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Woolly Hair Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4DSP, KRT25, KRT71, LIPH

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 Hair27

Anatomical Context for Woolly Hair Syndrome

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MalaCards organs/tissues related to Woolly Hair Syndrome:

36
Skin, Retina

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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Pathways related to Woolly Hair Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.6DSP, KRT25, KRT71, KRT74
2
Show member pathways
8.6DSP, KRT25, KRT71, KRT74

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
1keratin filamentGO:00450959.5KRT71, KRT74
2intermediate filamentGO:00058829.1DSP, KRT25, KRT71, KRT74

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

idNameGO IDScoreTop Affiliating Genes
1hair follicle morphogenesisGO:003106910.1KRT25, KRT71
2intermediate filament cytoskeleton organizationGO:004510410.1DSP, KRT74
3intermediate filament organizationGO:00451099.6DSP, KRT25, KRT71
4cornificationGO:00702689.2DSP, KRT25, KRT71, KRT74
5keratinizationGO:00314248.6DSP, KRT25, KRT71, KRT74

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051988.6DSP, KRT25, KRT71, KRT74

Sources for Woolly Hair Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet