MCID: WLL010
MIFTS: 40

Woolly Hair Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Woolly Hair Syndrome

MalaCards integrated aliases for Woolly Hair Syndrome:

Name: Woolly Hair Syndrome 54
Woolly Hair 54 60 38
Wooly Hair 60 30
Hereditary Woolly Hair Syndrome 60
Hereditary Wooly Hair Syndrome 60
Familial Woolly Hair Syndrome 60
Familial Wooly Hair Syndrome 60
Hereditary Woolly Hair 54
Familial Woolly Hair 54

Characteristics:

Orphanet epidemiological data:

60
woolly hair
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

KEGG 38 H00667
MESH via Orphanet 46 C536745
ICD10 via Orphanet 35 Q84.1
UMLS via Orphanet 75 C0343073 C0345427
Orphanet 60 ORPHA170

Summaries for Woolly Hair Syndrome

NIH Rare Diseases : 54 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 skin fragility-woolly hair syndrome and cardiomyopathy, dilated, with woolly hair and keratoderma. An important gene associated with Woolly Hair Syndrome is KRT25 (Keratin 25), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Developmental Biology. Affiliated tissues include skin, and related phenotypes are fine hair and woolly hair

Related Diseases for Woolly Hair Syndrome

Diseases in the Woolly Hair Syndrome family:

Woolly Hair, Autosomal Dominant Woolly Hair, Autosomal Recessive 3

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 skin fragility-woolly hair syndrome 34.2 DSP LOC101928076
2 cardiomyopathy, dilated, with woolly hair and keratoderma 34.0 DSP KRT74
3 hypotrichosis 7 32.3 KRT25 KRT74 LIPH LPAR6
4 hypotrichosis 13 32.0 KRT25 KRT71 KRT74 LIPH
5 hypotrichosis 8 32.0 KRT25 KRT74 LIPH LPAR6
6 ectodermal dysplasia 30.0 DSP KRT74
7 hypotrichosis simplex 29.9 LIPH LPAR6
8 hypotrichosis 29.6 KRT25 KRT71 KRT74 LIPH LPAR6
9 hair disease 28.6 DSP KRT25 KRT74 LIPH LPAR6
10 palmoplantar keratoderma and woolly hair 12.7
11 woolly hair, autosomal dominant 12.6
12 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 12.6
13 woolly hair, autosomal recessive 3 12.6
14 keratoderma with woolly hair 12.6
15 naxos disease 12.3
16 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 12.3
17 nevus, epidermal 12.3
18 arrhythmogenic right ventricular dysplasia, familial, 11 12.1
19 skin fragility-woolly hair-palmoplantar keratoderma syndrome 11.9
20 chand syndrome 11.3
21 trichohepatoenteric syndrome 1 11.1
22 palmoplantar keratosis 10.6
23 arrhythmogenic right ventricular cardiomyopathy 10.3
24 dilated cardiomyopathy 10.2
25 keratosis 10.2
26 palmoplantar keratoderma, nonepidermolytic 10.2
27 alopecia 10.2
28 unna-thost palmoplantar keratoderma 10.2
29 epidermolysis bullosa, lethal acantholytic 10.1 DSP LOC101928076
30 keratosis pilaris atrophicans 10.1
31 ectodermal dysplasia/skin fragility syndrome 10.1 DSP LOC101928076
32 cafe-au-lait spots, multiple 10.0
33 cleft palate, isolated 10.0
34 darier-white disease 10.0
35 epidermolysis bullosa simplex with mottled pigmentation 10.0
36 heterochromia iridis 10.0
37 palmoplantar keratoderma, epidermolytic 10.0
38 pachyonychia congenita 1 10.0
39 uncombable hair syndrome 1 10.0
40 white sponge nevus 1 10.0
41 atrioventricular dissociation 10.0
42 dermatitis, atopic 10.0
43 ichthyosis lamellar 1 10.0
44 amblyopia 10.0
45 ichthyosis 10.0
46 dermatitis 10.0
47 epidermolysis bullosa 10.0
48 epidermolysis bullosa simplex 10.0
49 alopecia areata 10.0
50 hypertrophic cardiomyopathy 10.0

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:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fine hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002213
2 woolly hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002224
3 brittle hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002299
4 hypopigmentation of hair 60 33 frequent (33%) Frequent (79-30%) HP:0005599
5 slow-growing hair 60 33 frequent (33%) Frequent (79-30%) HP:0002217
6 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
7 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
8 sparse body hair 60 33 occasional (7.5%) Occasional (29-5%) HP:0002231
9 sparse lateral eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0005338
10 abnormal retinal morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0000479
11 abnormal pupil morphology 33 occasional (7.5%) HP:0000615
12 abnormality of the pupil 60 Occasional (29-5%)
13 abnormality of hair texture 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Woolly Hair Syndrome:

47
# 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 30

Anatomical Context for Woolly Hair Syndrome

MalaCards organs/tissues related to Woolly Hair Syndrome:

42
Skin

Publications for Woolly Hair Syndrome

Articles related to Woolly Hair Syndrome:

(show top 50) (show all 141)
# Title Authors Year
1
Woolly hair, palmoplantar keratoderma, skin fragility, and perioral fissures in a toddler. ( 30895675 )
2019
2
Diagnosis of Woolly Hair Using Trichoscopy. ( 30719357 )
2019
3
Woolly Hair Nevus Type 2: Rare Entity. ( 30820133 )
2019
4
A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation. ( 30864170 )
2019
5
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
6
Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India. ( 30133754 )
2018
7
Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair. ( 29974973 )
2018
8
A Case of Progressive Evolution of Multiple Woolly Hair Nevi in a Child. ( 30386079 )
2018
9
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. ( 30401460 )
2018
10
Uncombable hair syndrome with a woolly hair nevus. ( 27679409 )
2017
11
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
12
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. ( 28899683 )
2017
13
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. ( 28425126 )
2017
14
Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis. ( 28295558 )
2017
15
Clinical spectrum of woolly hair: indications for cerebral involvement. ( 29096685 )
2017
16
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. ( 28329610 )
2016
17
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. ( 26902920 )
2016
18
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
19
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
20
Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. ( 26829038 )
2016
21
Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis. ( 27774676 )
2016
22
Hair Follicle Miniaturization in a Woolly Hair Nevus: A Novel "Root" Perspective for a Mosaic Hair Disorder. ( 26894777 )
2016
23
Topical minoxidil and tretinoin combined with an oral vitamin D analog as a treatment for woolly hair. ( 26929432 )
2016
24
Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair. ( 27094727 )
2016
25
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
26
Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis. ( 26046953 )
2015
27
Woolly Hair with Systematized Epidermal Nevus. ( 26538742 )
2015
28
A Rare Presentation and Histopathologic Findings of Woolly Hair Nevus. ( 26622159 )
2015
29
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
30
A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association? ( 26622156 )
2015
31
Woolly Hair with Complete Atrioventricular Dissociation: A Rare Association. ( 26180456 )
2015
32
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. ( 26160856 )
2015
33
The twisting tale of woolly hair: a trait with many causes. ( 25561463 )
2015
34
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. ( 24671081 )
2014
35
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. ( 24714551 )
2014
36
Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation. ( 25191045 )
2014
37
Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. ( 24129065 )
2014
38
Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations. ( 24586639 )
2014
39
Woolly hair nevus in a toddler. ( 25368480 )
2014
40
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
41
Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family. ( 25201209 )
2014
42
Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. ( 24628704 )
2014
43
Desmoplakin Mutations with Palmoplantar Keratoderma, Woolly Hair and Cardiomyopathy. ( 25227139 )
2014
44
Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair. ( 25271093 )
2014
45
Woolly hair nevus: neonatal alopecia can be an initial manifestation. ( 24261737 )
2013
46
Two cases of autosomal recessive woolly hair with LIPH gene mutations. ( 23590372 )
2013
47
Woolly hair nevus involving entire occipital and temporal scalp. ( 24003297 )
2013
48
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
49
Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. ( 22385360 )
2013
50
A novel deletion mutation in the LPAR6 gene underlies autosomal recessive woolly hair with hypotrichosis. ( 23773027 )
2013

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:

38
# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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