MCID: FML361
MIFTS: 38

Familial Woolly Hair Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Woolly Hair Syndrome

MalaCards integrated aliases for Familial Woolly Hair Syndrome:

Name: Familial Woolly Hair Syndrome 12 58
Woolly Hair 12 52 58 36
Wooly Hair 12 58 29
Hereditary Woolly Hair Syndrome 12 58
Hereditary Wooly Hair Syndrome 12 58
Familial Wooly Hair Syndrome 12 58
Syndrome with Woolly Hair 58
Woolly Hair, Congenital 43
Hereditary Woolly Hair 52
Woolly Hair Syndrome 52
Familial Woolly Hair 52
Wooly Hair Syndrome 74

Characteristics:

Orphanet epidemiological data:

58
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: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0111572
KEGG 36 H00667
MeSH 43 C536745
MESH via Orphanet 44 C536745
ICD10 via Orphanet 33 Q84.1
UMLS via Orphanet 72 C0343073 C0345427
UMLS 71 C0343073

Summaries for Familial Woolly Hair Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 170 Definition Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair. Epidemiology Prevalence is unknown. Clinical description Woolly 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). Etiology Isolated 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 methods A 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 diagnosis Differential diagnosis includes acquired progressive curling of the hair, allotrichia circumscripta symmetrica, acquired partial kinky hair (see this term) and drug-induced kinky hair. Genetic counseling Generalized 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 treatment No 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. Prognosis Woolly 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 : Familial Woolly Hair Syndrome, also known as woolly hair, is related to hypotrichosis 7 and hypotrichosis 8. An important gene associated with Familial Woolly Hair Syndrome is KRT25 (Keratin 25), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Keratinization. Affiliated tissues include skin, heart and brain, and related phenotypes are fine hair and woolly hair

Disease Ontology : 12 A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends.

KEGG : 36 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).

Wikipedia : 74 Afro-textured hair is the natural hair texture of certain populations in Africa, the African diaspora,... more...

Related Diseases for Familial Woolly Hair Syndrome

Diseases in the Familial Woolly Hair Syndrome family:

Woolly Hair, Autosomal Dominant Woolly Hair, Autosomal Recessive 3

Diseases related to Familial 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 hypotrichosis 7 32.0 LPAR6 LIPH KRT74 KRT25
2 hypotrichosis 8 31.9 LPAR6 LIPH KRT74 KRT25
3 hypotrichosis 13 31.8 LPAR6 LIPH KRT71 KRT25
4 hypotrichosis simplex 30.0 LPAR6 LIPH
5 hypotrichosis 29.0 LPAR6 LIPH KRT74 KRT71 KRT25
6 hair disease 28.5 LPAR6 LIPH KRT74 KRT71
7 hypotrichosis 3 28.3 LPAR6 LIPH KRT74 KRT71
8 cardiomyopathy, dilated, with woolly hair and keratoderma 13.0
9 skin fragility-woolly hair syndrome 13.0
10 palmoplantar keratoderma and woolly hair 12.9
11 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 12.9
12 keratoderma with woolly hair 12.8
13 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 12.6
14 naxos disease 12.5
15 nevus, epidermal 12.4
16 arrhythmogenic right ventricular dysplasia, familial, 11 12.4
17 chand syndrome 11.4
18 woolly hair, autosomal dominant 11.4
19 woolly hair, autosomal recessive 3 11.4
20 trichohepatoenteric syndrome 1 11.3
21 palmoplantar keratosis 10.7
22 atrial standstill 1 10.6
23 keratosis 10.6
24 arrhythmogenic right ventricular cardiomyopathy 10.5
25 dilated cardiomyopathy 10.4
26 alopecia 10.4
27 ectodermal dysplasia 10.3
28 palmoplantar keratoderma, epidermolytic 10.3
29 noonan syndrome 1 10.3
30 pili torti 10.3
31 pseudo-turner syndrome 10.3
32 cardiofaciocutaneous syndrome 1 10.2
33 pachyonychia congenita 1 10.2
34 palmoplantar keratoderma, nonepidermolytic 10.2
35 keratosis pilaris atrophicans 10.2
36 helix syndrome 10.2
37 ichthyosis 10.2
38 skin disease 10.2
39 congestive heart failure 10.2
40 cataract 10.2
41 erythrokeratoderma ''en cocardes'' 10.2
42 unna-thost palmoplantar keratoderma 10.2
43 striate palmoplantar keratoderma 10.2
44 epidermolytic hyperkeratosis 10.0
45 cardiac conduction defect 10.0
46 cleft palate, isolated 10.0
47 darier-white disease 10.0
48 epidermolysis bullosa simplex with mottled pigmentation 10.0
49 heterochromia iridis 10.0
50 ichthyosis vulgaris 10.0

Graphical network of the top 20 diseases related to Familial Woolly Hair Syndrome:



Diseases related to Familial Woolly Hair Syndrome

Symptoms & Phenotypes for Familial Woolly Hair Syndrome

Human phenotypes related to Familial Woolly Hair Syndrome:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
2 woolly hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002224
3 brittle hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002299
4 hypopigmentation of hair 58 31 frequent (33%) Frequent (79-30%) HP:0005599
5 slow-growing hair 58 31 frequent (33%) Frequent (79-30%) HP:0002217
6 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
7 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
8 sparse body hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002231
9 sparse lateral eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0005338
10 abnormal retinal morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000479
11 abnormal pupil morphology 31 occasional (7.5%) HP:0000615
12 abnormality of the pupil 58 Occasional (29-5%)
13 abnormality of hair texture 58 Very frequent (99-80%)

Drugs & Therapeutics for Familial Woolly Hair Syndrome

Search Clinical Trials , NIH Clinical Center for Familial Woolly Hair Syndrome

Cochrane evidence based reviews: woolly hair, congenital

Genetic Tests for Familial Woolly Hair Syndrome

Genetic tests related to Familial Woolly Hair Syndrome:

# Genetic test Affiliating Genes
1 Wooly Hair 29

Anatomical Context for Familial Woolly Hair Syndrome

MalaCards organs/tissues related to Familial Woolly Hair Syndrome:

40
Skin, Heart, Brain, Liver, T Cells

Publications for Familial Woolly Hair Syndrome

Articles related to Familial Woolly Hair Syndrome:

(show top 50) (show all 237)
# Title Authors PMID Year
1
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. 61 6
26902920 2016
2
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 61 6
26160856 2015
3
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. 61 6
22592156 2012
4
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 61 6
21188418 2011
5
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. 61 6
20346438 2010
6
Visual Dermatology: Woolly Hair Nevus. 61
31729913 2019
7
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy. 61
31073624 2019
8
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions. 61
31037311 2019
9
A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation. 61
30864170 2019
10
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. 61
30382575 2019
11
Keratoderma and woolly hair: an important clue for the presence of cardiac pathology. 61
31025732 2019
12
Woolly hair, palmoplantar keratoderma, skin fragility, and perioral fissures in a toddler. 61
30895675 2019
13
Diagnosis of Woolly Hair Using Trichoscopy. 61
30719357 2019
14
Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair. 61
29974973 2019
15
Woolly Hair Nevus Type 2: Rare Entity. 61
30820133 2019
16
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. 61
31790498 2019
17
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. 61
30401460 2018
18
Trichoscopy in Hair Shaft Disorders. 61
30201151 2018
19
Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India. 61
30133754 2018
20
A Case of Progressive Evolution of Multiple Woolly Hair Nevi in a Child. 61
30386079 2018
21
Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review. 61
29464811 2018
22
Naxos disease: from the origin to today. 61
29747658 2018
23
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. 61
28899683 2018
24
Trichohepatoenteric Syndrome 61
29334452 2018
25
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. 61
28425126 2018
26
Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT). 61
29346610 2017
27
Clinical spectrum of woolly hair: indications for cerebral involvement. 61
29096685 2017
28
Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report. 61
29145277 2017
29
Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis. 61
27774676 2017
30
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. 61
27641630 2017
31
Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis. 61
28295558 2017
32
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. 61
28292286 2017
33
Wooly hair nevus. 61
29267480 2017
34
Uncombable hair syndrome with a woolly hair nevus. 61
27679409 2017
35
Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation. 61
27375176 2017
36
Journey toward unraveling the molecular basis of hereditary hair disorders. 61
27523806 2016
37
Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair. 61
27094727 2016
38
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy. 61
27747171 2016
39
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. 61
28329610 2016
40
Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II. 61
27293153 2016
41
Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe). 61
28649555 2016
42
Topical minoxidil and tretinoin combined with an oral vitamin D analog as a treatment for woolly hair. 61
26929432 2016
43
Pachyonychia congenita with late onset (PC tarda). 61
27559502 2016
44
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan. 61
27472364 2016
45
Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. 61
26829038 2016
46
Arrhythmogenic cardiomyopathy. 61
27038780 2016
47
Hair Follicle Miniaturization in a Woolly Hair Nevus: A Novel "Root" Perspective for a Mosaic Hair Disorder. 61
26894777 2016
48
Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis. 61
26645693 2016
49
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. 61
25976726 2015
50
Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome. 61
25824144 2015

Variations for Familial Woolly Hair Syndrome

Expression for Familial Woolly Hair Syndrome

Search GEO for disease gene expression data for Familial Woolly Hair Syndrome.

Pathways for Familial Woolly Hair Syndrome

Pathways related to Familial Woolly Hair Syndrome according to KEGG:

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 KRT74 KRT71 KRT25

GO Terms for Familial Woolly Hair Syndrome

Cellular components related to Familial 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 8.8 KRT74 KRT71 KRT25

Biological processes related to Familial Woolly Hair Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hair follicle morphogenesis GO:0031069 9.26 KRT71 KRT25
2 intermediate filament organization GO:0045109 9.16 KRT71 KRT25
3 keratinization GO:0031424 9.13 KRT74 KRT71 KRT25
4 cornification GO:0070268 8.8 KRT74 KRT71 KRT25

Sources for Familial Woolly Hair Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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