MCID: FML361
MIFTS: 46

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 15
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
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
SNOMED-CT 67 52564001
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 A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair. Epidemiology Prevalence of woolly hair 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. A diffuse partial form, manifesting during adolescence and adulthood, have also been described. In many cases, woolly hair is associated with hypotrichosis. Whilst wooly hair may occur as an isolated finding, it is important to exclude manifestations that occur in syndromic forms such as dilated cardiomyopathy and palmoplantar keratoderma (Carvajal syndrome ), arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma (Naxos disease), or with growth failure and neurological symptoms (Menkes disease). Etiology Isolated forms are mostly due to homozygous or sometimes compound heterozygous mutations in the genes lipase H (LIPH , 3q27.2) and lysophosphatidic acid receptor 6 (LPAR6 , 13q14.2), 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 (12q13.13) and KRT71 (12q13.13). Mutations have also been reported in KRT25 (17q21.2 ). Recently, a new gene locus was reported for woolly hair on chromosome 4q35.1-q35.2 with a potential disease gene with one affected family only. 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 and drug-induced kinky hair. Syndromes with woolly hair should also be excluded, such as Naxos disease, Carvajal syndrome, Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome, woolly-hair-palmoplantar keratoderma syndrome, and skin fragility-woolly hair-palmoplantar keratoderma syndrome. Genetic counseling Generalized forms due to KRT74 and KRT71 mutations are autosomal dominant , and forms due to LIPH and LPAR6 mutations are autosomal 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 palmoplantar keratoderma and woolly hair and hypotrichosis 8. An important gene associated with Familial Woolly Hair Syndrome is LIPH (Lipase H), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Developmental Biology. 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, or kinky hair is the natural hair texture of certain populations in Africa, mainly... 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 156)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and woolly hair 35.1 JUP DSP DSC2
2 hypotrichosis 8 34.4 LPAR6 LIPH KRT74 KRT25 DSG4
3 cardiomyopathy, dilated, with woolly hair and keratoderma 34.3 TMEM43 PKP3 PKP2 PKP1 JUP DSP
4 hypotrichosis 7 34.3 LPAR6 LIPH LIPC KRT74 KRT25 DSG4
5 arrhythmogenic right ventricular dysplasia, familial, 11 34.1 TMEM43 PKP2 JUP DSG2 DSC3 DSC2
6 hypotrichosis 13 34.0 LPAR6 LIPH LIPC KRT71 KRT25 DSG4
7 naxos disease 33.3 TMEM43 PKP3 PKP2 PKP1 LPAR6 JUP
8 woolly hair, autosomal dominant 32.8 LPAR6 LIPH KRT74 KRT71 KRT25
9 keratosis 31.8 DSP DSG4 DSG2
10 hypotrichosis simplex 31.6 LPAR6 LIPH DSG4
11 hypotrichosis 31.5 LPAR6 LIPH LIPC KRT74 KRT71 KRT25
12 atrial standstill 1 31.5 PKP2 JUP DSP DSG2 DSC2
13 striate palmoplantar keratoderma 31.1 DSP DSG1
14 arrhythmogenic right ventricular cardiomyopathy 31.1 TMEM43 PKP3 PKP2 JUP DSP DSG2
15 pachyonychia congenita 1 31.0 PKP1 DSP DSG1
16 ectodermal dysplasia 31.0 PKP1 KRT74 JUP DSP DSG1 DSC2
17 dilated cardiomyopathy 30.9 TMEM43 PKP2 JUP DSP DSG2 DSC2
18 hypotrichosis 3 30.9 LPAR6 LIPH KRT74 KRT71
19 diffuse palmoplantar keratoderma 30.8 JUP DSP DSG1
20 ectodermal dysplasia 7, hair/nail type 30.8 KRT74 DSG4
21 hair disease 30.8 LPAR6 LIPH KRT74 KRT71 DSP DSG4
22 skin disease 30.7 DSP DSG4 DSG2 DSG1 DSC3 DSC1
23 palmoplantar keratosis 30.7 TMEM43 PKP3 PKP2 PKP1 JUP DSP
24 ectodermal dysplasia 4, hair/nail type 30.6 TTC37 LPAR6 LIPH KRT74 KRT71 DSG4
25 impetigo 30.6 DSG4 DSG2 DSG1 DSC3 DSC1
26 hypertrophic cardiomyopathy 30.4 TMEM43 PKP2 JUP DSP DSG2 DSC2
27 darier-white disease 30.4 JUP DSP DSG4 DSG1 DSC3 DSC2
28 epidermolysis bullosa simplex with mottled pigmentation 30.2 PKP1 DSP
29 palmoplantar keratoderma, nonepidermolytic 29.9 TMEM43 PKP3 PKP2 PKP1 JUP DSP
30 skin fragility-woolly hair syndrome 13.0
31 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 12.9
32 keratoderma with woolly hair 12.8
33 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 12.6
34 nevus, epidermal 12.4
35 chand syndrome 11.4
36 woolly hair, autosomal recessive 3 11.4
37 trichohepatoenteric syndrome 1 11.3
38 arrhythmogenic right ventricular dysplasia, familial, 1 10.7 PKP2 DSG2
39 mucinoses 10.6 KRT74 KRT71
40 grover's disease 10.6 JUP DSP
41 hypotrichosis 11 10.6 LPAR6 LIPH KRT74
42 epidermolysis bullosa, lethal acantholytic 10.6 JUP DSP
43 hypotrichosis 4 10.6 LPAR6 LIPH KRT74
44 pemphigus vegetans 10.6 DSG1 DSC3
45 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.6 DSP DSG1
46 ectodermal dysplasia 6, hair/nail type 10.5 KRT74 DSG4
47 ectodermal dysplasia 5, hair/nail type 10.5 KRT74 DSG4
48 hypotrichosis, congenital, with juvenile macular dystrophy 10.5 LIPH DSG4
49 tinea imbricata 10.5 PKP3 DSG1
50 naegeli-franceschetti-jadassohn syndrome 10.5 KRT74 KRT25

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 12)
# 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 abnormal pupil morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000615
9 sparse body hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002231
10 sparse lateral eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0005338
11 abnormal retinal morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000479
12 abnormality of hair texture 58 Very frequent (99-80%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.36 DSC3 PKP1
2 Decreased viability GR00381-A-1 9.36 KRT71 PKP3 TMEM43
3 Decreased viability GR00386-A-1 9.36 DSC3 SKIV2L
4 Decreased viability GR00402-S-2 9.36 DSG4 DSP LIPH PKP1

MGI Mouse Phenotypes related to Familial Woolly Hair Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.4 DSC1 DSC3 DSG1 DSG2 DSG4 DSP

Drugs & Therapeutics for Familial Woolly Hair Syndrome

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

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

Publications for Familial Woolly Hair Syndrome

Articles related to Familial Woolly Hair Syndrome:

(show top 50) (show all 240)
# 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
Postnatal Woolly Hair: A Key to Diagnosis in Giant Axonal Neuropathy. 61
32522339 2020
7
Unusual Clinical Presentation of Autosomal Recessive Woolly Hair. 61
32258056 2020
8
Woolly hair nevus: case report and review of literature. 61
32155026 2020
9
Visual Dermatology: Woolly Hair Nevus. 61
31729913 2019
10
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy. 61
31073624 2019
11
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions. 61
31037311 2019
12
A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation. 61
30864170 2019
13
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. 61
30382575 2019
14
Keratoderma and woolly hair: an important clue for the presence of cardiac pathology. 61
31025732 2019
15
Woolly hair, palmoplantar keratoderma, skin fragility, and perioral fissures in a toddler. 61
30895675 2019
16
Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair. 61
29974973 2019
17
Diagnosis of Woolly Hair Using Trichoscopy. 61
30719357 2019
18
Woolly Hair Nevus Type 2: Rare Entity. 61
30820133 2019
19
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. 61
31790498 2019
20
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. 61
30401460 2018
21
Trichoscopy in Hair Shaft Disorders. 61
30201151 2018
22
Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India. 61
30133754 2018
23
A Case of Progressive Evolution of Multiple Woolly Hair Nevi in a Child. 61
30386079 2018
24
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
25
Naxos disease: from the origin to today. 61
29747658 2018
26
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. 61
28899683 2018
27
Trichohepatoenteric Syndrome 61
29334452 2018
28
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. 61
28425126 2018
29
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
30
Clinical spectrum of woolly hair: indications for cerebral involvement. 61
29096685 2017
31
Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report. 61
29145277 2017
32
Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis. 61
27774676 2017
33
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
34
Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis. 61
28295558 2017
35
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. 61
28292286 2017
36
Uncombable hair syndrome with a woolly hair nevus. 61
27679409 2017
37
Wooly hair nevus. 61
29267480 2017
38
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
39
Journey toward unraveling the molecular basis of hereditary hair disorders. 61
27523806 2016
40
Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair. 61
27094727 2016
41
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy. 61
27747171 2016
42
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. 61
28329610 2016
43
Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II. 61
27293153 2016
44
Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe). 61
28649555 2016
45
Topical minoxidil and tretinoin combined with an oral vitamin D analog as a treatment for woolly hair. 61
26929432 2016
46
Pachyonychia congenita with late onset (PC tarda). 61
27559502 2016
47
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan. 61
27472364 2016
48
Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. 61
26829038 2016
49
Arrhythmogenic cardiomyopathy. 61
27038780 2016
50
Hair Follicle Miniaturization in a Woolly Hair Nevus: A Novel "Root" Perspective for a Mosaic Hair Disorder. 61
26894777 2016

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
13.01 PKP3 PKP2 PKP1 KRT74 KRT71 KRT25
2
Show member pathways
11.92 PKP3 PKP2 PKP1 KRT74 KRT71 KRT25
3
Show member pathways
11.74 PKP2 JUP DSP DSG2 DSC2
4
Show member pathways
11.47 PKP2 PKP1 DSP

GO Terms for Familial Woolly Hair Syndrome

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.31 PKP3 PKP2 PKP1 LPAR6 LIPH JUP
2 extracellular exosome GO:0070062 10.14 KRT74 KRT71 KRT25 JUP DSP DSG2
3 cell junction GO:0030054 10 PKP3 PKP2 PKP1 JUP DSP DSG4
4 desmosome GO:0030057 9.9 PKP3 PKP2 PKP1 JUP DSP DSG4
5 intermediate filament GO:0005882 9.87 PKP2 PKP1 KRT74 KRT71 KRT25 JUP
6 adherens junction GO:0005912 9.85 PKP3 PKP2 PKP1 JUP DSC2
7 intercalated disc GO:0014704 9.77 PKP2 JUP DSP DSG2 DSC2
8 ficolin-1-rich granule membrane GO:0101003 9.73 PKP1 DSP DSG1 DSC1
9 cell-cell junction GO:0005911 9.7 PKP3 PKP2 PKP1 JUP DSP DSG4
10 lateral plasma membrane GO:0016328 9.69 JUP DSG2 DSG1
11 messenger ribonucleoprotein complex GO:1990124 9.58 PKP3 PKP2 PKP1
12 fascia adherens GO:0005916 9.52 JUP DSP
13 Ski complex GO:0055087 9.48 TTC37 SKIV2L
14 cornified envelope GO:0001533 9.36 PKP3 PKP2 PKP1 JUP DSP DSG4

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.07 PKP3 PKP2 PKP1 JUP DSG4 DSG2
2 neutrophil degranulation GO:0043312 9.95 PKP1 JUP DSP DSG1 DSC1
3 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.91 DSG4 DSG2 DSG1 DSC3 DSC2 DSC1
4 cell-cell adhesion GO:0098609 9.9 PKP3 PKP2 PKP1 JUP DSP DSG4
5 cell-cell junction assembly GO:0007043 9.8 PKP3 PKP2 PKP1 DSG1
6 regulation of heart rate by cardiac conduction GO:0086091 9.8 PKP2 JUP DSP DSG2 DSC2
7 cornification GO:0070268 9.8 PKP3 PKP2 PKP1 KRT74 KRT71 KRT25
8 protein localization to plasma membrane GO:0072659 9.76 PKP3 PKP2 JUP
9 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.72 PKP2 JUP DSP DSG2 DSC2
10 intermediate filament organization GO:0045109 9.69 KRT71 KRT25 DSP
11 desmosome organization GO:0002934 9.65 PKP2 DSP DSG2
12 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.65 PKP2 JUP DSP DSG2 DSC2
13 desmosome assembly GO:0002159 9.63 PKP3 PKP2 JUP
14 triglyceride catabolic process GO:0019433 9.58 LIPH LIPC
15 maternal process involved in female pregnancy GO:0060135 9.57 DSG2 DSG1
16 intermediate filament cytoskeleton organization GO:0045104 9.56 KRT74 DSP
17 intermediate filament bundle assembly GO:0045110 9.54 PKP2 PKP1
18 negative regulation of mRNA catabolic process GO:1902373 9.52 PKP3 PKP1
19 keratinization GO:0031424 9.47 PKP3 PKP2 PKP1 KRT74 KRT71 KRT25

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.8 DSG4 DSG2 DSG1 DSC3 DSC2 DSC1
2 cadherin binding GO:0045296 9.73 PKP3 PKP2 PKP1 JUP
3 lipase activity GO:0016298 9.46 LIPH LIPC
4 cell adhesion molecule binding GO:0050839 9.46 PKP3 JUP DSP DSG2
5 gamma-catenin binding GO:0045295 9.4 DSG1 DSC3
6 intermediate filament binding GO:0019215 9.37 PKP2 PKP1
7 lipoprotein lipase activity GO:0004465 9.26 LIPH LIPC
8 alpha-catenin binding GO:0045294 9.13 PKP3 PKP2 JUP
9 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 PKP2 JUP DSP DSG2 DSC2

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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