MCID: WLL010
MIFTS: 39

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 53
Woolly Hair 53 59 37
Wooly Hair 59 29
Hereditary Woolly Hair Syndrome 59
Hereditary Wooly Hair Syndrome 59
Familial Woolly Hair Syndrome 59
Familial Wooly Hair Syndrome 59
Hereditary Woolly Hair 53
Familial Woolly Hair 53

Characteristics:

Orphanet epidemiological data:

59
woolly hair
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA170
MESH via Orphanet 45 C536745
UMLS via Orphanet 74 C0343073 C0345427
ICD10 via Orphanet 34 Q84.1
KEGG 37 H00667

Summaries for Woolly Hair Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Woolly Hair Syndrome, also known as woolly hair, is related to cardiomyopathy, dilated, with woolly hair and keratoderma and skin fragility-woolly hair syndrome. 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 and skin, and related phenotypes are abnormal retinal morphology and strabismus

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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal retinal morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0000479
2 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
3 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
4 fine hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002213
5 slow-growing hair 59 32 frequent (33%) Frequent (79-30%) HP:0002217
6 woolly hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002224
7 sparse body hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002231
8 brittle hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002299
9 sparse lateral eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0005338
10 hypopigmentation of hair 59 32 frequent (33%) Frequent (79-30%) HP:0005599
11 abnormality of the pupil 59 Occasional (29-5%)
12 abnormality of hair texture 59 Very frequent (99-80%)
13 abnormal pupil morphology 32 occasional (7.5%) HP:0000615

MGI Mouse Phenotypes related to Woolly Hair Syndrome:

46
# 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 Wooly Hair 29

Anatomical Context for Woolly Hair Syndrome

MalaCards organs/tissues related to Woolly Hair Syndrome:

41
Heart, Skin

Publications for Woolly Hair Syndrome

Articles related to Woolly Hair Syndrome:

(show top 50) (show all 98)
# Title Authors Year
1
Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review. ( 29464811 )
2018
2
Uncombable hair syndrome with a woolly hair nevus. ( 27679409 )
2017
3
Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT). ( 29346610 )
2017
4
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. ( 28899683 )
2017
5
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. ( 28425126 )
2017
6
Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis. ( 28295558 )
2017
7
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. ( 28329610 )
2016
8
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. ( 26902920 )
2016
9
Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation. ( 27375176 )
2016
10
Mutational analysis of 29 patients with autosomal recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal recessive woolly hair and hypotrichosis in Japan. ( 27641630 )
2016
11
Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. ( 26829038 )
2016
12
Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis. ( 27774676 )
2016
13
Hair Follicle Miniaturization in a Woolly Hair Nevus: A Novel "Root" Perspective for a Mosaic Hair Disorder. ( 26894777 )
2016
14
Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6. ( 25828854 )
2015
15
Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis. ( 26046953 )
2015
16
Woolly Hair with Systematized Epidermal Nevus. ( 26538742 )
2015
17
A Rare Presentation and Histopathologic Findings of Woolly Hair Nevus. ( 26622159 )
2015
18
Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis. ( 25899282 )
2015
19
A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association? ( 26622156 )
2015
20
Woolly Hair with Complete Atrioventricular Dissociation: A Rare Association. ( 26180456 )
2015
21
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. ( 26160856 )
2015
22
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. ( 24671081 )
2014
23
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. ( 24714551 )
2014
24
Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation. ( 25191045 )
2014
25
Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. ( 24129065 )
2014
26
Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations. ( 24586639 )
2014
27
Woolly hair nevus in a toddler. ( 25368480 )
2014
28
A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia. ( 24722066 )
2014
29
Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family. ( 25201209 )
2014
30
Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. ( 24628704 )
2014
31
Desmoplakin Mutations with Palmoplantar Keratoderma, Woolly Hair and Cardiomyopathy. ( 25227139 )
2014
32
Woolly hair nevus: neonatal alopecia can be an initial manifestation. ( 24261737 )
2013
33
Two cases of autosomal recessive woolly hair with LIPH gene mutations. ( 23590372 )
2013
34
Woolly hair nevus involving entire occipital and temporal scalp. ( 24003297 )
2013
35
Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood. ( 22449147 )
2013
36
Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. ( 22385360 )
2013
37
A novel deletion mutation in the LPAR6 gene underlies autosomal recessive woolly hair with hypotrichosis. ( 23773027 )
2013
38
A case of autosomal recessive woolly hair/hypotrichosis with alternation in severity: deterioration and improvement with age. ( 24474919 )
2013
39
Woolly hair nevus associated with digital abnormalities and auditory disturbance. ( 23621149 )
2013
40
The I^9 loop domain of PA-PLA1I+ has a crucial role in autosomal recessive woolly hair/hypotrichosis. ( 22475755 )
2012
41
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. ( 22592156 )
2012
42
Woolly hair nevus: a rare entity. ( 22628991 )
2012
43
The medusa head: dermoscopic diagnosis of woolly hair syndrome. ( 23180934 )
2012
44
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. ( 23066499 )
2012
45
Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair. ( 22621192 )
2012
46
Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype. ( 22125978 )
2011
47
Marie-Unna hereditary hypotrichosis or autosomal recessive hereditary hypotrichosis with woolly hair: the diagnostic dilemma of labeling cases with hypotrichosis. ( 22082473 )
2011
48
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. ( 25386265 )
2011
49
Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair. ( 21352330 )
2011
50
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. ( 21426374 )
2011

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:

37
# 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

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10 dbSNP
11 DGIdb
17 ExPASy
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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