MCID: WLL010
MIFTS: 39

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
Syndrome with Woolly Hair 59
Hereditary Woolly Hair 53
Familial Woolly Hair 53

Characteristics:

Orphanet epidemiological data:

59
syndrome with woolly hair
Age of onset: Neonatal;
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:

KEGG 37 H00667
MESH via Orphanet 45 C536745
ICD10 via Orphanet 34 Q84.1
UMLS via Orphanet 73 C0343073 C0345427

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: 170DefinitionWoolly 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 heterozygous mutations 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 heart, skin and brain, and related phenotypes are fine hair and woolly hair

KEGG : 37
Woolly hair (WH) is a group of hair shaft dystrophies characterized by fine and tightly curled hair. WH is inherited in either autosomal dominant and autosomal recessive manner. Autosomal recessive woolly hair can also show varying degrees of sparse hair or hypotrichosis (HYPT).

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 104)
# Related Disease Score Top Affiliating Genes
1 skin fragility-woolly hair syndrome 34.6 LOC101928076 DSP
2 cardiomyopathy, dilated, with woolly hair and keratoderma 34.1 KRT74 DSP
3 hypotrichosis 7 31.8 LPAR6 LIPH KRT74 KRT25
4 hypotrichosis 8 31.7 LPAR6 LIPH KRT74 KRT25
5 hypotrichosis 13 31.5 LIPH KRT74 KRT71 KRT25
6 ectodermal dysplasia 30.4 KRT74 DSP
7 hypotrichosis simplex 30.0 LPAR6 LIPH
8 hypotrichosis 28.6 LPAR6 LIPH KRT74 KRT71 KRT25
9 hair disease 27.6 LPAR6 LIPH KRT74 KRT25 DSP
10 palmoplantar keratoderma and woolly hair 12.9
11 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 12.9
12 woolly hair, autosomal recessive 3 12.8
13 keratoderma with woolly hair 12.8
14 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 12.6
15 naxos disease 12.5
16 arrhythmogenic right ventricular dysplasia, familial, 11 12.4
17 nevus, epidermal 12.4
18 skin fragility-woolly hair-palmoplantar keratoderma syndrome 12.0
19 chand syndrome 11.4
20 trichohepatoenteric syndrome 1 11.3
21 atrial standstill 1 10.6
22 arrhythmogenic right ventricular cardiomyopathy 10.5
23 palmoplantar keratosis 10.3
24 palmoplantar keratoderma, epidermolytic 10.3
25 pili torti 10.3
26 keratosis 10.2
27 epidermolysis bullosa, lethal acantholytic 10.2 LOC101928076 DSP
28 alopecia 10.2
29 pachyonychia congenita 1 10.2
30 palmoplantar keratoderma, nonepidermolytic 10.2
31 helix syndrome 10.2
32 skin disease 10.2
33 congestive heart failure 10.2
34 cataract 10.2
35 unna-thost palmoplantar keratoderma 10.2
36 ectodermal dysplasia/skin fragility syndrome 10.1 LOC101928076 DSP
37 cardiofaciocutaneous syndrome 1 10.1
38 noonan syndrome 1 10.1
39 woolly hair, autosomal dominant 10.1
40 keratosis pilaris atrophicans 10.1
41 pseudo-turner syndrome 10.1
42 ichthyosis 10.0
43 autosomal recessive disease 10.0
44 dilated cardiomyopathy 10.0
45 erythrokeratoderma ''en cocardes'' 10.0
46 diffuse palmoplantar keratoderma 10.0
47 striate palmoplantar keratoderma 10.0
48 epidermolytic hyperkeratosis 10.0
49 cardiac conduction defect 10.0
50 cleft palate, isolated 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 fine hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002213
2 woolly hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002224
3 brittle hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002299
4 hypopigmentation of hair 59 32 frequent (33%) Frequent (79-30%) HP:0005599
5 slow-growing hair 59 32 frequent (33%) Frequent (79-30%) HP:0002217
6 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
7 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
8 sparse body hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002231
9 sparse lateral eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0005338
10 abnormal retinal morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0000479
11 abnormal pupil morphology 32 occasional (7.5%) HP:0000615
12 abnormality of the pupil 59 Occasional (29-5%)
13 abnormality of hair texture 59 Very frequent (99-80%)

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, Brain, Liver

Publications for Woolly Hair Syndrome

Articles related to Woolly Hair Syndrome:

(show top 50) (show all 235)
# Title Authors PMID Year
1
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. 38 71
26902920 2016
2
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 38 71
26160856 2015
3
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. 38 71
22592156 2012
4
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 38 71
21188418 2011
5
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. 38 71
20346438 2010
6
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy. 38
31073624 2019
7
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions. 38
31037311 2019
8
A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation. 38
30864170 2019
9
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. 38
30382575 2019
10
Keratoderma and woolly hair: an important clue for the presence of cardiac pathology. 38
31025732 2019
11
Woolly hair, palmoplantar keratoderma, skin fragility, and perioral fissures in a toddler. 38
30895675 2019
12
Diagnosis of Woolly Hair Using Trichoscopy. 38
30719357 2019
13
Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair. 38
29974973 2019
14
Woolly Hair Nevus Type 2: Rare Entity. 38
30820133 2019
15
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. 38
30401460 2018
16
Trichoscopy in Hair Shaft Disorders. 38
30201151 2018
17
Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India. 38
30133754 2018
18
A Case of Progressive Evolution of Multiple Woolly Hair Nevi in a Child. 38
30386079 2018
19
Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review. 38
29464811 2018
20
Naxos disease: from the origin to today. 38
29747658 2018
21
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. 38
28899683 2018
22
Trichohepatoenteric Syndrome 38
29334452 2018
23
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. 38
28425126 2018
24
Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT). 38
29346610 2017
25
Clinical spectrum of woolly hair: indications for cerebral involvement. 38
29096685 2017
26
Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report. 38
29145277 2017
27
Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis. 38
27774676 2017
28
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. 38
27641630 2017
29
Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis. 38
28295558 2017
30
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. 38
28292286 2017
31
Uncombable hair syndrome with a woolly hair nevus. 38
27679409 2017
32
Wooly hair nevus. 38
29267480 2017
33
Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation. 38
27375176 2017
34
Journey toward unraveling the molecular basis of hereditary hair disorders. 38
27523806 2016
35
Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair. 38
27094727 2016
36
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy. 38
27747171 2016
37
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. 38
28329610 2016
38
Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II. 38
27293153 2016
39
Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe). 38
28649555 2016
40
Topical minoxidil and tretinoin combined with an oral vitamin D analog as a treatment for woolly hair. 38
26929432 2016
41
Pachyonychia congenita with late onset (PC tarda). 38
27559502 2016
42
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan. 38
27472364 2016
43
Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. 38
26829038 2016
44
Arrhythmogenic cardiomyopathy. 38
27038780 2016
45
Hair Follicle Miniaturization in a Woolly Hair Nevus: A Novel "Root" Perspective for a Mosaic Hair Disorder. 38
26894777 2016
46
Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis. 38
26645693 2016
47
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. 38
25976726 2015
48
Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. 38
25824144 2015
49
Woolly Hair with Systematized Epidermal Nevus. 38
26538742 2015
50
Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis. 38
26046953 2015

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 KRT74 KRT71 KRT25 DSP
2
Show member pathways
11.38 KRT74 KRT71 KRT25 DSP

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 KRT74 KRT71
2 intermediate filament GO:0005882 8.92 KRT74 KRT71 KRT25 DSP

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 KRT74 KRT71 KRT25 DSP
2 hair follicle morphogenesis GO:0031069 9.32 KRT71 KRT25
3 intermediate filament cytoskeleton organization GO:0045104 9.26 KRT74 DSP
4 cornification GO:0070268 9.26 KRT74 KRT71 KRT25 DSP
5 intermediate filament organization GO:0045109 8.8 KRT71 KRT25 DSP

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 8.62 KRT25 DSP

Sources for Woolly Hair Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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