MCID: FML361
MIFTS: 49

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 20 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 20
Woolly Hair Syndrome 20
Familial Woolly Hair 20
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 45 C536745
ICD10 via Orphanet 33 Q84.1
UMLS via Orphanet 72 C0343073 C0345427

Summaries for Familial Woolly Hair Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 170DefinitionA rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.EpidemiologyPrevalence of woolly hair 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. 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).EtiologyIsolated 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 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 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 counselingGeneralized 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 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 : 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 KRT74 (Keratin 74), 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 and the... 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 160)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and woolly hair 33.2 JUP DSP DSC2
2 hypotrichosis 8 33.1 LPAR6 LIPH KRT74 KRT25 DSG4
3 hypotrichosis 7 33.1 LPAR6 LIPH LIPC KRT74 KRT25 DSG4
4 arrhythmogenic right ventricular dysplasia, familial, 11 32.8 TMEM43 PKP2 JUP DSP DSG2 DSC3
5 hypotrichosis 13 32.7 LPAR6 LIPH LIPC KRT71 KRT25 IRS1
6 cardiomyopathy, dilated, with woolly hair and keratoderma 32.5 TMEM43 PKP3 PKP2 PKP1 LPAR6 JUP
7 woolly hair, autosomal recessive 3 32.5 KRT25 IRS1
8 woolly hair, autosomal dominant 32.4 LPAR6 LIPH KRT74 KRT71 KRT25
9 naxos disease 32.3 TMEM43 PKP3 PKP2 PKP1 LPAR6 JUP
10 keratosis 31.3 DSP DSG4 DSG2 DSG1
11 hypotrichosis 31.2 LPAR6 LIPH LIPC KRT74 KRT71 KRT25
12 hypotrichosis simplex 31.2 LPAR6 LIPH KRT25 DSG4
13 atrial standstill 1 31.1 TMEM43 PKP2 JUP DSP DSG2 DSC2
14 palmoplantar keratosis 31.1 PKP2 PKP1 JUP DSP DSG2 DSG1
15 ectodermal dysplasia 30.8 PKP1 KRT74 DSP DSG1 DSC2
16 arrhythmogenic right ventricular cardiomyopathy 30.8 TMEM43 PKP3 PKP2 JUP DSP DSG2
17 palmoplantar keratoderma, epidermolytic 30.7 PKP1 DSP DSG4 DSG1
18 striate palmoplantar keratoderma 30.7 DSP DSG1
19 hypotrichosis 3 30.5 LPAR6 LIPH KRT74 KRT71
20 dilated cardiomyopathy 30.5 TMEM43 PKP2 JUP DSP DSG2 DSC2
21 hair disease 30.5 LPAR6 LIPH KRT74 KRT71 DSP DSG4
22 diffuse palmoplantar keratoderma 30.5 JUP DSP DSG1
23 skin disease 30.4 DSP DSG4 DSG2 DSG1 DSC3 DSC1
24 ectodermal dysplasia 4, hair/nail type 30.3 TTC37 LPAR6 LIPH KRT74 KRT71 DSG4
25 ectodermal dysplasia 7, hair/nail type 30.3 KRT74 DSG4
26 impetigo 30.3 DSG4 DSG2 DSG1 DSC3 DSC1
27 darier-white disease 30.2 JUP DSP DSG4 DSC3 DSC2 DSC1
28 hypertrophic cardiomyopathy 30.1 TMEM43 PKP2 JUP DSP DSG2 DSC2
29 palmoplantar keratoderma, nonepidermolytic 29.9 TMEM43 PKP3 PKP2 PKP1 JUP DSP
30 skin fragility-woolly hair syndrome 11.9
31 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 11.7
32 nevus, epidermal 11.7
33 keratoderma with woolly hair 11.6
34 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 11.4
35 chand syndrome 11.2
36 trichohepatoenteric syndrome 1 11.0
37 olmsted syndrome 2 11.0
38 erythrokeratodermia variabilis et progressiva 7 11.0
39 mucinoses 10.4 KRT74 KRT71
40 grover's disease 10.4 JUP DSP
41 hypotrichosis 4 10.4 LPAR6 LIPH KRT74
42 pemphigus vegetans 10.4 DSG1 DSC3
43 hypotrichosis, congenital, with juvenile macular dystrophy 10.4 LIPH KRT74 DSG4
44 epidermolysis bullosa, lethal acantholytic 10.4 JUP DSP
45 arrhythmogenic right ventricular dysplasia, familial, 1 10.4 PKP2 DSP DSG2 DSC2
46 pseudomembranous conjunctivitis 10.4 DSP DSG1
47 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 10.4 DSP DSG1
48 tinea imbricata 10.4 PKP3 DSG1
49 ectodermal dysplasia 6, hair/nail type 10.4 KRT74 DSG4
50 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 10.4 LPAR6 LIPH KRT71 DSG4

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 GR00221-A-1 9.5 IRS1
2 Decreased viability GR00221-A-2 9.5 IRS1
3 Decreased viability GR00249-S 9.5 DSC3 PKP1
4 Decreased viability GR00342-S-2 9.5 IRS1
5 Decreased viability GR00342-S-3 9.5 IRS1
6 Decreased viability GR00381-A-1 9.5 KRT71 PKP3 TMEM43
7 Decreased viability GR00386-A-1 9.5 DSC3 IRS1
8 Decreased viability GR00402-S-2 9.5 DSG4 DSP LIPH PKP1

MGI Mouse Phenotypes related to Familial Woolly Hair Syndrome:

46
# 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

Publications for Familial Woolly Hair Syndrome

Articles related to Familial Woolly Hair Syndrome:

(show top 50) (show all 247)
# Title Authors PMID Year
1
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. 6 61
26902920 2016
2
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 6 61
26160856 2015
3
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. 6 61
22592156 2012
4
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 6 61
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
Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis. 61
32901930 2020
7
Naxos disease - a narrative review. 61
32966140 2020
8
Case of autosomal recessive woolly hair/hypotrichosis with a homozygous c.736T>A mutation of LIPH caused by maternal uniparental disomy of chromosome 3. 61
32783278 2020
9
Autosomal recessive woolly hair and hypotrichosis in two Caucasian dizygotic twins. Description of a novel biallelic mutation in the LPAR6 gene. 61
33017051 2020
10
A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome. 61
33114497 2020
11
Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants. 61
32667621 2020
12
Postnatal Woolly Hair: A Key to Diagnosis in Giant Axonal Neuropathy. 61
32522339 2020
13
Unusual Clinical Presentation of Autosomal Recessive Woolly Hair. 61
32258056 2020
14
Woolly Hair Nevus with Trichotillomania in a 9-Year-Old Boy: A Rare Case Association. 61
32684682 2020
15
Woolly hair nevus: case report and review of literature. 61
32155026 2020
16
Visual Dermatology: Woolly Hair Nevus. 61
31729913 2019
17
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions. 61
31037311 2019
18
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy. 61
31073624 2019
19
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. 61
30382575 2019
20
A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation. 61
30864170 2019
21
Keratoderma and woolly hair: an important clue for the presence of cardiac pathology. 61
31025732 2019
22
Woolly hair, palmoplantar keratoderma, skin fragility, and perioral fissures in a toddler. 61
30895675 2019
23
Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair. 61
29974973 2019
24
Woolly Hair Nevus Type 2: Rare Entity. 61
30820133 2019
25
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. 61
31790498 2019
26
Diagnosis of Woolly Hair Using Trichoscopy. 61
30719357 2019
27
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. 61
30401460 2018
28
Trichoscopy in Hair Shaft Disorders. 61
30201151 2018
29
Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India. 61
30133754 2018
30
A Case of Progressive Evolution of Multiple Woolly Hair Nevi in a Child. 61
30386079 2018
31
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
32
Naxos disease: from the origin to today. 61
29747658 2018
33
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. 61
28899683 2018
34
Trichohepatoenteric Syndrome 61
29334452 2018
35
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. 61
28425126 2018
36
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
37
Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report. 61
29145277 2017
38
Clinical spectrum of woolly hair: indications for cerebral involvement. 61
29096685 2017
39
Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis. 61
27774676 2017
40
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
41
Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis. 61
28295558 2017
42
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. 61
28292286 2017
43
Wooly hair nevus. 61
29267480 2017
44
Uncombable hair syndrome with a woolly hair nevus. 61
27679409 2017
45
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
46
Journey toward unraveling the molecular basis of hereditary hair disorders. 61
27523806 2016
47
Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair. 61
27094727 2016
48
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy. 61
27747171 2016
49
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease. 61
28329610 2016
50
Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe). 61
28649555 2016

Variations for Familial Woolly Hair Syndrome

ClinVar genetic disease variations for Familial Woolly Hair Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT74 NM_175053.4(KRT74):c.444C>G (p.Asn148Lys) SNV Pathogenic 2460 rs267607205 12:52967118-52967118 12:52573334-52573334
2 KRT74 NM_175053.4(KRT74):c.1391-1G>A SNV Pathogenic 66968 rs267607478 12:52960953-52960953 12:52567169-52567169
3 KRT25 NM_181534.4(KRT25):c.712G>T (p.Val238Leu) SNV Pathogenic 242934 rs879253749 17:38907536-38907536 17:40751284-40751284
4 KRT71 NM_033448.3(KRT71):c.422T>G (p.Phe141Cys) SNV Pathogenic 140460 rs587777545 12:52946440-52946440 12:52552656-52552656
5 KRT25 NM_181534.4(KRT25):c.950T>C (p.Leu317Pro) SNV Pathogenic 217303 rs766783183 17:38907213-38907213 17:40750961-40750961
6 IRS1 NM_005544.2(IRS1):c.158G>A (p.Trp53Ter) SNV Likely pathogenic 804395 rs1574667668 2:227663297-227663297 2:226798581-226798581

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
13.04 PKP3 PKP2 PKP1 KRT74 KRT71 KRT25
2
Show member pathways
11.92 PKP3 PKP2 PKP1 KRT74 KRT71 KRT25
3 11.74 PKP2 JUP DSP DSG2 DSC2
4
Show member pathways
11.62 PKP1 DSP DSG2 DSG1
5
Show member pathways
11.53 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 13)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.32 PKP3 PKP2 PKP1 LPAR6 LIPH JUP
2 extracellular exosome GO:0070062 10.13 KRT74 KRT71 KRT25 JUP DSP DSG2
3 cell junction GO:0030054 10 PKP3 PKP2 PKP1 JUP DSP DSG4
4 intermediate filament GO:0005882 9.87 PKP2 PKP1 KRT74 KRT71 KRT25 JUP
5 adherens junction GO:0005912 9.85 PKP3 PKP2 PKP1 JUP DSC2
6 cell-cell junction GO:0005911 9.85 PKP3 PKP2 JUP DSP DSG4 DSG2
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 desmosome GO:0030057 9.7 PKP3 PKP2 PKP1 JUP DSP DSG4
10 lateral plasma membrane GO:0016328 9.67 JUP DSG2 DSG1
11 messenger ribonucleoprotein complex GO:1990124 9.58 PKP3 PKP2 PKP1
12 fascia adherens GO:0005916 9.51 JUP DSP
13 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 17)
# 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 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.72 PKP2 JUP DSP DSG2 DSC2
9 intermediate filament organization GO:0045109 9.69 KRT71 KRT25 DSP
10 desmosome organization GO:0002934 9.65 PKP2 DSP DSG2
11 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.65 PKP2 JUP DSP DSG2 DSC2
12 desmosome assembly GO:0002159 9.63 PKP3 PKP2 JUP
13 maternal process involved in female pregnancy GO:0060135 9.57 DSG2 DSG1
14 intermediate filament cytoskeleton organization GO:0045104 9.56 KRT74 DSP
15 intermediate filament bundle assembly GO:0045110 9.54 PKP2 PKP1
16 negative regulation of mRNA catabolic process GO:1902373 9.52 PKP3 PKP1
17 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 9.85 DSG4 DSG2 DSG1 DSC3 DSC2 DSC1
2 cadherin binding GO:0045296 9.76 PKP3 PKP2 PKP1 JUP
3 protein kinase C binding GO:0005080 9.5 PKP2 IRS1 DSP
4 lipase activity GO:0016298 9.48 LIPH LIPC
5 cell adhesion molecule binding GO:0050839 9.46 PKP3 JUP DSP DSG2
6 gamma-catenin binding GO:0045295 9.43 DSG1 DSC3
7 intermediate filament binding GO:0019215 9.4 PKP2 PKP1
8 lipoprotein lipase activity GO:0004465 9.26 LIPH LIPC
9 alpha-catenin binding GO:0045294 9.13 PKP3 PKP2 JUP
10 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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