Woolly Hair Syndrome

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Woolly Hair Syndrome

MalaCards integrated aliases 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


Orphanet epidemiological data:

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


Orphanet: 56  
Rare skin diseases

External Ids:

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

Summaries for Woolly Hair Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 170disease definitionwoolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.epidemiologyprevalence is unknown.clinical descriptionwoolly hair can either be present at birth or appear in the first months of life. the curls, with an average diameter of 0.5 cm, lie closely together and usually make the hair difficult to comb; in addition, the hair may be more fragile than usual. the hair growth rate is usually normal but the anagen phase may be truncated, with the result that the hair does not grow to be long. woolly hair either shows a generalized distribution affecting the entire scalp or a localized circumscribed distribution in the form of a woolly hair nevus (see this term). a diffuse partial form, manifesting during adolescence and adulthood, have also been described. in many cases, woolly hair is associated with hypotrichosis. woolly hair can also be syndromic, occurring in combination with dilated cardiomyopathy and palmoplantar keratoderma (carvajal syndrome), with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma (naxos disease), or with growth failure and neurological symptoms (menkes disease) (see these terms).etiologyisolated forms are mostly due to homozygous or sometimes compound heterozygousmutations in the genes lipase h (liph) and lysophosphatidic acid receptor 6 (lpar6), that act along a common pathway which plays an important role in the control of hair growth as well as hair texture. in only very few patients, heterozygous mutations have been reported in two keratin genes, namely krt74 and krt71. the syndromic forms are due to mutations in desmoplakin (dsp) (naxos disease), plakoglobin (jup) (carvajal syndrome), and atpase copper transporting alpha polypeptide (atp7a) (menkes disease). just recently, mutations have been identified in kank2, which encodes the steroid receptor coactivator (src)-interacting protein (sip), for a family with woolly hair and keratoderma without any accompanying heart defects. the etiology of diffuse partial woolly hair and of sporadically occurring woolly hair nevi is unknown.diagnostic methodsa thorough dermatological examination with an evaluation of the entire integument should be performed and may also identify any associated manifestations. the examination of the hair shafts by light and electron microscopy reveals an elliptical cross section, variations in caliber, axis rotation and kinked formation, as well as non-homogeneous keratinization. in some cases trichorrexis nodosa is evident. if necessary, the anagen/catagen ratio can be determined using a trichogram. in cases of diffuse partial woolly hair, an increase in intermediate follicles can be detected histopathologically.differential diagnosisdifferential diagnosis includes acquired progressive curling of the hair, allotrichia circumscripta symmetrica, acquired partial kinky hair (see this term) and drug-induced kinky hair.genetic counselinggeneralized forms due to krt74 and krt71 mutations are autosomal dominant, and forms due to liph and lpar6 mutations are autosomal recessive. syndromic forms are all recessive. sporadic forms may also occur. follicular mosaicism is likely, while an autosomal dominant transmission has also been discussed for diffuse partial woolly and treatmentno treatment is currently available. depending on their size and location, woolly hair nevi can be excised. harsh physical and chemical cosmetic treatments should be avoided. if the presence of a syndrome is suspected, an extensive internal investigation, with a detailed cardiological diagnostic examination, is necessary.prognosiswoolly hair is most pronounced during childhood; the manifestations often become less severe in adulthood.visit the orphanet disease page for more resources. last updated: 1/10/2015

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 LIPH (Lipase H), and among its related pathways/superpathways are Developmental Biology and Keratinization. Affiliated tissues include heart, skin and retina, and related phenotype is integument.

Related Diseases for Woolly Hair Syndrome

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 (7.5%) Occasional (29-5%) HP:0000479
2 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
3 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
4 abnormality of the pupil 56 32 occasional (7.5%) Occasional (29-5%) HP:0000615
5 fine hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002213
6 slow-growing hair 56 32 frequent (33%) Frequent (79-30%) HP:0002217
7 woolly hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002224
8 sparse body hair 56 32 occasional (7.5%) Occasional (29-5%) HP:0002231
9 brittle hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002299
10 sparse lateral eyebrow 56 32 occasional (7.5%) Occasional (29-5%) HP:0005338
11 hypopigmentation of hair 56 32 frequent (33%) Frequent (79-30%) HP:0005599
12 abnormality of hair texture 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Woolly Hair Syndrome:

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:

Heart, Skin, Retina

Publications for Woolly Hair Syndrome

Articles related to Woolly Hair Syndrome:

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

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
Show member pathways
12.47 DSP KRT25 KRT71 KRT74
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 cornification GO:0070268 9.26 DSP KRT25 KRT71 KRT74
5 intermediate filament organization GO:0045109 8.8 DSP KRT25 KRT71

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

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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