MCID: WLL010
MIFTS: 34

Woolly Hair Syndrome malady

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Woolly Hair Syndrome

Aliases & Descriptions for Woolly Hair Syndrome:

Name: Woolly Hair Syndrome 50
Woolly Hair 50 56 29
Hereditary Woolly Hair Syndrome 56
Hereditary Wooly Hair Syndrome 56
Familial Woolly Hair Syndrome 56
Familial Wooly Hair Syndrome 56
Hereditary Woolly Hair 50
Familial Woolly Hair 50
Wooly Hair 56

Characteristics:

Orphanet epidemiological data:

56
woolly hair
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

Orphanet 56 ORPHA170
MESH via Orphanet 43 C536745
UMLS via Orphanet 70 C0343073 C0345427
ICD10 via Orphanet 34 Q84.1

Summaries for Woolly Hair Syndrome

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 abnormality of the retina, strabismus and cataract. An important gene associated with Woolly Hair Syndrome is KRT25 (Keratin 25), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include skin and retina, and related phenotype is integument.

Related Diseases for Woolly Hair Syndrome

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)
id Related Disease Score Top Affiliating Genes
1 skin fragility-woolly hair syndrome 12.4
2 cardiomyopathy, dilated, with woolly hair and keratoderma 11.3
3 skin fragility-woolly hair-palmoplantar keratoderma syndrome 11.2
4 epidermal nevus, somatic 11.0
5 hypotrichosis 13 11.0
6 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 11.0
7 hypotrichosis 10.1
8 pallister-killian syndrome 10.0 DSP KRT74
9 epidermolysis bullosa, lethal acantholytic 10.0 DSP KRT74
10 chromosome 15q11-q13 duplication syndrome 10.0 DSP KRT74
11 cataract 15, multiple types 10.0 KRT74 LPAR6
12 hypotrichosis simplex 9.9
13 keratosis pilaris 9.9
14 keratosis 9.9
15 ventricular tachycardia, catecholaminergic polymorphic, 4 9.9 DSP KRT74
16 hair disease 9.8
17 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia 9.7 KRT25 LIPH LPAR6
18 mitochondrial complex deficiency, nuclear type 4 9.7 KRT74 LIPH LPAR6
19 ichthyosis, acquired 9.7 KRT74 LIPH LPAR6
20 spastic paraplegia 14, autosomal recessive 9.6 KRT25 KRT74 LIPH LPAR6
21 pyoderma 9.6 DSP KRT74 LIPH LPAR6
22 congenital disorder of glycosylation, type ip 9.5 KRT25 KRT74 LIPH LPAR6
23 hypotrichosis 3 9.3 KRT25 KRT71 KRT74 LIPH LPAR6
24 mesenchymal chondrosarcoma 9.3 KRT25 KRT71 KRT74 LIPH LPAR6
25 x-linked intellectual disability with or without nystagmus 9.2 DSP 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

Human phenotypes related to Woolly Hair Syndrome:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the retina 56 32 Occasional (29-5%) HP:0000479
2 strabismus 56 32 Occasional (29-5%) HP:0000486
3 cataract 56 32 Occasional (29-5%) HP:0000518
4 abnormality of the pupil 56 32 Occasional (29-5%) HP:0000615
5 fine hair 56 32 Very frequent (99-80%) HP:0002213
6 slow-growing hair 56 32 Frequent (79-30%) HP:0002217
7 woolly hair 56 32 Very frequent (99-80%) HP:0002224
8 sparse body hair 56 32 Occasional (29-5%) HP:0002231
9 brittle hair 56 32 Very frequent (99-80%) HP:0002299
10 sparse lateral eyebrow 56 32 Occasional (29-5%) HP:0005338
11 hypopigmentation of hair 56 32 Frequent (79-30%) HP:0005599
12 abnormality of hair texture 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Woolly Hair Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 DSP KRT25 KRT71 LIPH

Drugs & Therapeutics for Woolly Hair Syndrome

Search Clinical Trials , NIH Clinical Center for Woolly Hair Syndrome

Genetic Tests for Woolly Hair Syndrome

Genetic tests related to Woolly Hair Syndrome:

id Genetic test Affiliating Genes
1 Woolly Hair 29

Anatomical Context for Woolly Hair Syndrome

MalaCards organs/tissues related to Woolly Hair Syndrome:

39
Skin, Retina

Publications for Woolly Hair Syndrome

Articles related to Woolly Hair Syndrome:

id Title Authors Year
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

Expression for Woolly Hair Syndrome

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

Pathways for Woolly Hair Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 DSP KRT25 KRT71 KRT74
2
Show member pathways
11.38 DSP KRT25 KRT71 KRT74

GO Terms for Woolly Hair Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 keratin filament GO:0045095 8.96 KRT71 KRT74
2 intermediate filament GO:0005882 8.92 DSP KRT25 KRT71 KRT74

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

id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.46 DSP KRT25 KRT71 KRT74
2 hair follicle morphogenesis GO:0031069 9.32 KRT25 KRT71
3 intermediate filament cytoskeleton organization GO:0045104 9.26 DSP KRT74
4 intermediate filament organization GO:0045109 9.13 DSP KRT25 KRT71
5 cornification GO:0070268 8.92 DSP KRT25 KRT71 KRT74

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

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.92 DSP KRT25 KRT71 KRT74

Sources for Woolly Hair Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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