MCID: WLL010
MIFTS: 42

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 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 KRT25 (Keratin 25), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Developmental Biology. Affiliated tissues include heart, skin and liver, and related phenotypes are cataract and strabismus

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 cardiomyopathy, dilated, with woolly hair and keratoderma 34.1 DSP KRT74
2 skin fragility-woolly hair syndrome 34.1 DSP LOC101928076
3 hypotrichosis 7 32.7 KRT25 KRT74 LIPH LPAR6
4 hypotrichosis 13 32.4 KRT25 KRT71 KRT74 LIPH
5 hypotrichosis 8 32.4 KRT25 KRT74 LIPH LPAR6
6 hypotrichosis 30.1 KRT25 KRT71 KRT74 LIPH LPAR6
7 hypotrichosis simplex 30.0 LIPH LPAR6
8 ectodermal dysplasia 30.0 DSP KRT74
9 hair disease 29.1 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 11.1
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 10.1
27 alopecia 10.1
28 unna-thost palmoplantar keratoderma 10.1
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:

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

Publications for Woolly Hair Syndrome

Articles related to Woolly Hair Syndrome:

(show top 50) (show all 137)
# 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
Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India. ( 30133754 )
2018
3
A Case of Progressive Evolution of Multiple Woolly Hair Nevi in a Child. ( 30386079 )
2018
4
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. ( 30401460 )
2018
5
Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair. ( 29974973 )
2018
6
Uncombable hair syndrome with a woolly hair nevus. ( 27679409 )
2017
7
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
8
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. ( 28899683 )
2017
9
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. ( 28425126 )
2017
10
Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis. ( 28295558 )
2017
11
Clinical spectrum of woolly hair: indications for cerebral involvement. ( 29096685 )
2017
12
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. ( 28329610 )
2016
13
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. ( 26902920 )
2016
14
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
15
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
16
Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. ( 26829038 )
2016
17
Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis. ( 27774676 )
2016
18
Hair Follicle Miniaturization in a Woolly Hair Nevus: A Novel "Root" Perspective for a Mosaic Hair Disorder. ( 26894777 )
2016
19
Topical minoxidil and tretinoin combined with an oral vitamin D analog as a treatment for woolly hair. ( 26929432 )
2016
20
Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair. ( 27094727 )
2016
21
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
22
Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis. ( 26046953 )
2015
23
Woolly Hair with Systematized Epidermal Nevus. ( 26538742 )
2015
24
A Rare Presentation and Histopathologic Findings of Woolly Hair Nevus. ( 26622159 )
2015
25
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
26
A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association? ( 26622156 )
2015
27
Woolly Hair with Complete Atrioventricular Dissociation: A Rare Association. ( 26180456 )
2015
28
Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. ( 25227139 )
2015
29
The twisting tale of woolly hair: a trait with many causes. ( 25561463 )
2015
30
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. ( 26160856 )
2015
31
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. ( 24671081 )
2014
32
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. ( 24714551 )
2014
33
Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation. ( 25191045 )
2014
34
Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. ( 24129065 )
2014
35
Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations. ( 24586639 )
2014
36
Woolly hair nevus in a toddler. ( 25368480 )
2014
37
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
38
Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family. ( 25201209 )
2014
39
Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. ( 24628704 )
2014
40
Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair. ( 25271093 )
2014
41
Woolly hair nevus: neonatal alopecia can be an initial manifestation. ( 24261737 )
2013
42
Two cases of autosomal recessive woolly hair with LIPH gene mutations. ( 23590372 )
2013
43
Woolly hair nevus involving entire occipital and temporal scalp. ( 24003297 )
2013
44
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
45
Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. ( 22385360 )
2013
46
A novel deletion mutation in the LPAR6 gene underlies autosomal recessive woolly hair with hypotrichosis. ( 23773027 )
2013
47
A case of autosomal recessive woolly hair/hypotrichosis with alternation in severity: deterioration and improvement with age. ( 24474919 )
2013
48
Woolly hair nevus associated with digital abnormalities and auditory disturbance. ( 23621149 )
2013
49
A rare case of woolly hair with unusual associations. ( 23984241 )
2013
50
The I^9 loop domain of PA-PLA1I+ has a crucial role in autosomal recessive woolly hair/hypotrichosis. ( 22475755 )
2012

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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