MCID: WLL010
MIFTS: 36

Woolly Hair Syndrome

Categories: Rare diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Woolly Hair Syndrome

MalaCards integrated aliases for Woolly Hair Syndrome:

Name: Woolly Hair Syndrome 49
Woolly Hair 49 55 36 28
Hereditary Woolly Hair Syndrome 55
Hereditary Wooly Hair Syndrome 55
Familial Woolly Hair Syndrome 55
Familial Wooly Hair Syndrome 55
Hereditary Woolly Hair 49
Familial Woolly Hair 49
Wooly Hair 55

Characteristics:

Orphanet epidemiological data:

55
woolly hair
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

Orphanet 55 ORPHA170
MESH via Orphanet 42 C536745
UMLS via Orphanet 70 C0345427 C0343073
ICD10 via Orphanet 33 Q84.1
KEGG 36 H00667

Summaries for Woolly Hair Syndrome

NIH Rare Diseases : 49 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 hair.Management 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 hair disease and cardiomyopathy, dilated, with woolly hair and keratoderma, and has symptoms including strabismus, cataract and fine hair. An important gene associated with Woolly Hair Syndrome is LIPH (Lipase H), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Developmental Biology. 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:

55 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
2 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
3 fine hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002213
4 slow-growing hair 55 31 frequent (33%) Frequent (79-30%) HP:0002217
5 woolly hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002224
6 sparse body hair 55 31 occasional (7.5%) Occasional (29-5%) HP:0002231
7 brittle hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002299
8 sparse lateral eyebrow 55 31 occasional (7.5%) Occasional (29-5%) HP:0005338
9 hypopigmentation of hair 55 31 frequent (33%) Frequent (79-30%) HP:0005599
10 abnormality of the retina 55 Occasional (29-5%)
11 abnormality of the pupil 55 Occasional (29-5%)
12 abnormality of hair texture 55 Very frequent (99-80%)
13 abnormal retinal morphology 31 occasional (7.5%) HP:0000479
14 abnormal pupil morphology 31 occasional (7.5%) HP:0000615

MGI Mouse Phenotypes related to Woolly Hair Syndrome:

43
# 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:

# Genetic test Affiliating Genes
1 Woolly Hair 28

Anatomical Context for Woolly Hair Syndrome

MalaCards organs/tissues related to Woolly Hair Syndrome:

38
Heart, Skin, Retina

Publications for Woolly Hair Syndrome

Articles related to Woolly Hair Syndrome:

# 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 KEGG:

36
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080

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

# 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:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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