Familial Woolly Hair Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Familial Woolly Hair Syndrome

MalaCards integrated aliases for Familial Woolly Hair Syndrome:

Name: Familial Woolly Hair Syndrome ¹¹ ⁵⁸ ¹⁴

Woolly Hair ¹¹ ⁵⁸ ⁷⁵

Wooly Hair ¹¹ ⁵⁸ ²⁸

Hereditary Woolly Hair Syndrome ¹¹ ⁵⁸

Hereditary Wooly Hair Syndrome ¹¹ ⁵⁸

Familial Wooly Hair Syndrome ¹¹ ⁵⁸

Syndrome with Woolly Hair ⁵⁸

Wooly Hair Syndrome ⁷⁵

Characteristics:

Inheritance:

Woolly Hair: Autosomal dominant,Autosomal recessive ⁵⁸

Age Of Onset:

Syndrome with Woolly Hair: Neonatal ⁵⁸

Woolly Hair: Infancy,Neonatal ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of integument

Congenital morphological disturbances of hair, not elsewhere classified

Orphanet: ⁵⁸

Rare skin diseases

External Ids:

Disease Ontology ¹¹ DOID:0111572

MESH via Orphanet ⁴⁴ C536745

ICD10 via Orphanet ³² Q84.1

UMLS via Orphanet ⁷² C0343073 C0345427

Orphanet ⁵⁸ ORPHA170 ORPHA434809

SNOMED-CT via HPO ⁶⁹ 128306009 128602000 193570009 more

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Summaries for Familial Woolly Hair Syndrome

Disease Ontology: ¹¹ 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.

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 LIPH (Lipase H), and among its related pathways/superpathways are Nervous system development and DREAM Repression and Dynorphin Expression. Affiliated tissues include skin, heart and liver, and related phenotypes are fine hair and woolly hair

Orphanet: ⁵⁸ A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.

Wikipedia: ⁷⁵ Woolly hair is a difficult to brush hair, usually present since birth and typically most severe in... more...

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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 179)

#	Related Disease	Score	Top Affiliating Genes
1	hypotrichosis 7	33.2	LPAR6 LIPH KRT74 KRT25 DSG4
2	hypotrichosis 8	33.1	LPAR6 LIPH KRT74 KRT71 KRT25 DSG4
3	cardiomyopathy, dilated, with woolly hair and keratoderma	33.0	TMEM43 PKP3 PKP2 PKP1 JUP DSP
4	arrhythmogenic right ventricular dysplasia, familial, 11	32.9	TMEM43 PKP2 JUP DSP DSG2 DSC3
5	hypotrichosis 13	32.8	LPAR6 LIPH LIPC KRT74 KRT71 KRT25
6	naxos disease	32.7	TMEM43 PKP3 PKP2 PKP1 JUP DSP
7	woolly hair, autosomal recessive 3	32.5	LPAR6 LIPH KRT25
8	woolly hair, autosomal dominant	32.4	LPAR6 LIPH KRT74 KRT71 KRT25
9	hypotrichosis	31.4	LPAR6 LIPH LIPC KRT74 KRT71 KRT25
10	hypotrichosis simplex	31.3	LPAR6 LIPH DSG4
11	hypotrichosis 1	31.3	LIPH KRT74
12	palmoplantar keratosis	31.2	TMEM43 PKP2 PKP1 JUP DSP DSG2
13	hair disease	31.0	LPAR6 LIPH KRT74 KRT71 DSP DSG4
14	ectodermal dysplasia	30.8	PKP1 KRT74 JUP DSP DSG1 DSC2
15	skin disease	30.8	DSP DSG4 DSG1 DSC3 DSC1
16	dilated cardiomyopathy	30.8	TMEM43 PKP2 JUP DSP DSG2 DSC3
17	striate palmoplantar keratoderma	30.7	DSP DSG1
18	arrhythmogenic right ventricular dysplasia, familial, 8	30.7	TMEM43 PKP2 JUP DSP DSG2 DSC3
19	pachyonychia congenita 1	30.7	KRT74 DSP DSG1
20	arrhythmogenic right ventricular cardiomyopathy	30.6	TMEM43 PKP3 PKP2 PKP1 JUP DSP
21	diffuse palmoplantar keratoderma	30.5	DSP DSG1
22	hypotrichosis 3	30.5	LPAR6 LIPH KRT74 KRT71
23	ectodermal dysplasia 7, hair/nail type	30.4	KRT74 DSG4
24	cardiac conduction defect	30.4	DSP DSG2
25	impetigo	30.4	DSG4 DSG1 DSC3 DSC1
26	ectodermal dysplasia 4, hair/nail type	30.3	SKIC3 LPAR6 LIPH KRT74 KRT71 DSG4
27	arrhythmogenic right ventricular dysplasia, familial, 12	30.3	TMEM43 PKP2 JUP DSP DSG2 DSC2
28	epidermolysis bullosa simplex 2f, with mottled pigmentation	30.3	PKP1 DSP
29	darier-white disease	30.2	JUP DSP DSG4 DSG1 DSC3 DSC2
30	hypertrophic cardiomyopathy	30.2	TMEM43 PKP2 JUP DSP DSG2 DSC3
31	palmoplantar keratoderma, nonepidermolytic	30.0	TMEM43 PKP3 PKP2 PKP1 JUP DSP
32	skin fragility-woolly hair syndrome	11.9
33	palmoplantar keratoderma and woolly hair	11.8
34	nevus, epidermal	11.8
35	woolly hair, hypotrichosis, everted lower lip, and outstanding ears	11.7
36	cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	11.7
37	keratoderma with woolly hair	11.7
38	chand syndrome	11.2
39	erythrokeratodermia variabilis et progressiva 7	11.2
40	trichohepatoenteric syndrome 1	11.1
41	olmsted syndrome 2	11.1
42	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.5
43	mucinoses	10.4	KRT74 KRT71
44	keratosis	10.4
45	acantholytic acanthoma	10.4	DSC3 DSC2
46	epidermolysis bullosa, lethal acantholytic	10.4	JUP DSP
47	hypotrichosis, congenital, with juvenile macular dystrophy	10.4	LPAR6 LIPH DSG4
48	ectodermal dysplasia 6, hair/nail type	10.4	KRT74 DSG4
49	hypotrichosis 4	10.4	LPAR6 LIPH KRT74 KRT71
50	ectodermal dysplasia 5, hair/nail type	10.4	KRT74 DSG4

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

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Symptoms & Phenotypes for Familial Woolly Hair Syndrome

Human phenotypes related to Familial Woolly Hair Syndrome:

⁵⁸ ³⁰ (show all 12)

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

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.18	DSC1 DSC2 DSC3 DSG1 DSG2 DSG4
2	no effect	GR00402-S-2	10.18	DSC1 DSC2 DSC3 DSG1 DSG2 JUP

MGI Mouse Phenotypes related to Familial Woolly Hair Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument	MP:0010771	9.44	DSC1 DSC3 DSG1 DSG2 DSG4 DSP

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Drugs & Therapeutics for Familial Woolly Hair Syndrome

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

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Genetic Tests for Familial Woolly Hair Syndrome

Genetic tests related to Familial Woolly Hair Syndrome:

#	Genetic test	Affiliating Genes
1	Wooly Hair ²⁸

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Anatomical Context for Familial Woolly Hair Syndrome

Organs/tissues related to Familial Woolly Hair Syndrome:

MalaCards : Skin, Heart, Liver, Brain

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Publications for Familial Woolly Hair Syndrome

Articles related to Familial Woolly Hair Syndrome:

(show top 50) (show all 288)

#	Title	Authors	PMID	Year
1	Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations. ⁶²	Qu B...Yang D	35238153	2022
2	Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis. ⁶²	Yanagida K...Ishii S	36173926	2022
3	A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies. ⁶²	Raza R...Ahmad N	35926655	2022
4	Two siblings with the skin fragility woolly hair syndrome. ⁶²	Askin O...Serdaroglu S	35869672	2022
5	A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility. ⁶²	Ou S...Gusdorf L	35574671	2022
6	Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review. ⁶²	Gao J...Chen L	35800280	2022
7	Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity. ⁶²	Vermeer MCSC...Bolling MC	35325485	2022
8	Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia. ⁶²	Alsaleem BM...Alshamrani AS	34414925	2022
9	Carvajal Syndrome- A Variant of Naxos Disease: A Case Report. ⁶²	Mandal KD...Shrestha P	35210635	2022
10	Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling. ⁶²	Liang J...Yao Z	34601768	2022
11	Case Report: A Novel Homozygous Frameshift Mutation of the SKIV2L Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis. ⁶²	Yang M...Shao X	35571060	2022
12	Clinical and Molecular Aspects of Naxos Disease. ⁶²	Protonotarios I...Tsatsopoulou A	34776086	2022
13	Update of recent findings in genetic hair disorders. ⁶²	Hayashi R...Shimomura Y	34676598	2022
14	Type 4 Woolly Hair-Palmoplantar Keratoderma Syndrome: A Rare Entity. ⁶²	Hassanandani T...Kar BR	35283492	2021
15	Co-Occurrence of Chronic Mucocutaneous Candidiasis with Woolly Hair. ⁶²	Gaurav V...Grover C	34901186	2021
16	Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies. ⁶²	Akiyama M	33988877	2021
17	Autosomal recessive woolly hair and hypotrichosis in two Caucasian dizygotic twins. Description of a novel biallelic mutation in the LPAR6 gene. ⁶²	Piquer-Garcia J...Evole-Buselli M	33017051	2021
18	Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity. ⁶²	Te Riele ASJM...Tsatsopoulou A	34926342	2021
19	Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis. ⁶²	Lv H...Cheng R	32901930	2020
20	Case of autosomal recessive woolly hair/hypotrichosis with a homozygous c.736T>A mutation of LIPH caused by maternal uniparental disomy of chromosome 3. ⁶²	Tahara U...Kubo A	32783278	2020
21	Naxos disease - a narrative review. ⁶²	Leopoulou M...Magnusson P	32966140	2020
22	Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants. ⁶²	Taki T...Akiyama M	32667621	2020
23	A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome. ⁶²	Taher ZA...Alshumrani M	33114497	2020
24	The curly coat phenotype of the Ural Rex feline breed is associated with a mutation in the lipase H gene. ⁶²	Manakhov AD...Rogaev EI	32463158	2020
25	Postnatal Woolly Hair: A Key to Diagnosis in Giant Axonal Neuropathy. ⁶²	Allegue F...Zulaica A	32522339	2020
26	Unusual Clinical Presentation of Autosomal Recessive Woolly Hair. ⁶²	Alsharif O...Kaki AA	32258056	2020
27	Woolly Hair Nevus with Trichotillomania in a 9-Year-Old Boy: A Rare Case Association. ⁶²	Saini S...Yadav D	32684682	2020
28	Woolly hair nevus: case report and review of literature. ⁶²	Gomes TF...Henrique M	32155026	2020
29	Visual Dermatology: Woolly Hair Nevus. ⁶²	Garcia-Souto F...Escudero-Ordonez J	31729913	2019
30	Wooly hair nevus, Post's Type 2. ⁶²	Kamat D...Sendhil Kumaran M	30697702	2019
31	Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families. ⁶²	Khan GM...Ayub M	31077348	2019
32	Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions. ⁶²	Vakkilainen S...Hannula-Jouppi K	31037311	2019
33	Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy. ⁶²	Guerra L...Castiglia D	31073624	2019
34	Keratoderma and woolly hair: an important clue for the presence of cardiac pathology. ⁶²	Ramot Y	31025732	2019
35	A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation. ⁶²	Nishihara K...Kubo A	30864170	2019
36	Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. ⁶²	Maruthappu T...Kelsell DP	30382575	2019
37	Woolly hair, palmoplantar keratoderma, skin fragility, and perioral fissures in a toddler. ⁶²	Gupta V...Sharma VK	30895675	2019
38	Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair. ⁶²	Asano N...Shimomura Y	29974973	2019
39	Diagnosis of Woolly Hair Using Trichoscopy. ⁶²	Mathur M...Shah J	30719357	2019
40	Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. ⁶²	Schlaweck AE...Betz RC	31790498	2019
41	Woolly Hair Nevus Type 2: Rare Entity. ⁶²	Taj FT...Kologi S	30820133	2019
42	Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. ⁶²	Morimoto M...Malicdan MCV	30401460	2018
43	Trichoscopy in Hair Shaft Disorders. ⁶²	Rudnicka L...Rakowska A	30201151	2018
44	Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India. ⁶²	Peter DCV...Smith FJD	30133754	2018
45	A Case of Progressive Evolution of Multiple Woolly Hair Nevi in a Child. ⁶²	Muhammed N...Khopkar US	30386079	2018
46	Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review. ⁶²	Mizukami Y...Sugawara K	29464811	2018
47	Naxos disease: from the origin to today. ⁶²	Li GL...Fontaine GH	29747658	2018
48	Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. ⁶²	Ahmad F...Ahmad W	28425126	2018
49	A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. ⁶²	Yu X...Li M	28899683	2018
50	Trichohepatoenteric Syndrome ⁶²	Fabre A...Badens C	29334452	2018

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Genes for Familial Woolly Hair Syndrome

Genes related to Familial Woolly Hair Syndrome (5 elite genes):

(show all 48)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LIPH	Lipase H	Protein Coding	359.16	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	21426374
2	LPAR6	Lysophosphatidic Acid Receptor 6	Protein Coding	358.38	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	21426374
3	KRT74	Keratin 74	Protein Coding	358.28	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	20346438 21188418
4	KRT71	Keratin 71	Protein Coding	357.44	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	22592156
5	KRT25	Keratin 25	Protein Coding	357.15	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	26160856
6	DSP	Desmoplakin	Protein Coding	8.76	DISEASES inferred ¹⁴
7	PKP2	Plakophilin 2	Protein Coding	7.93	DISEASES inferred ¹⁴
8	DSC2	Desmocollin 2	Protein Coding	7.88	DISEASES inferred ¹⁴
9	DSG2	Desmoglein 2	Protein Coding	7.69	DISEASES inferred ¹⁴
10	JUP	Junction Plakoglobin	Protein Coding	7.39	DISEASES inferred ¹⁴
11	DSC3	Desmocollin 3	Protein Coding	7.36	DISEASES inferred ¹⁴
12	PKP1	Plakophilin 1	Protein Coding	7.34	DISEASES inferred ¹⁴
13	SKIC3	SKI3 Subunit Of Superkiller Complex	Protein Coding	7.32	DISEASES inferred ¹⁴
14	LIPC	Lipase C, Hepatic Type	Protein Coding	7.16	DISEASES inferred ¹⁴
15	DSG4	Desmoglein 4	Protein Coding	7.08	DISEASES inferred ¹⁴
16	TMEM43	Transmembrane Protein 43	Protein Coding	6.94	DISEASES inferred ¹⁴
17	SKIC2	SKI2 Subunit Of Superkiller Complex	Protein Coding	6.82	DISEASES inferred ¹⁴
18	DSG1	Desmoglein 1	Protein Coding	6.64	DISEASES inferred ¹⁴
19	DSC1	Desmocollin 1	Protein Coding	6.57	DISEASES inferred ¹⁴
20	PKP3	Plakophilin 3	Protein Coding	6.31	DISEASES inferred ¹⁴
21	KANK2	KN Motif And Ankyrin Repeat Domains 2	Protein Coding	6.27	DISEASES inferred ¹⁴
22	C3orf52	Chromosome 3 Open Reading Frame 52	Protein Coding	6.01	DISEASES inferred ¹⁴
23	DSG3	Desmoglein 3	Protein Coding	5.91	DISEASES inferred ¹⁴
24	CDSN	Corneodesmosin	Protein Coding	5.85	DISEASES inferred ¹⁴
25	GJA1	Gap Junction Protein Alpha 1	Protein Coding	5.83	DISEASES inferred ¹⁴
26	RYR2	Ryanodine Receptor 2	Protein Coding	5.79	DISEASES inferred ¹⁴
27	CCDC47	Coiled-Coil Domain Containing 47	Protein Coding	5.76	DISEASES inferred ¹⁴
28	CTNNA3	Catenin Alpha 3	Protein Coding	5.75	DISEASES inferred ¹⁴
29	PLA1A	Phospholipase A1 Member A	Protein Coding	5.72	DISEASES inferred ¹⁴
30	FLNC	Filamin C	Protein Coding	5.62	DISEASES inferred ¹⁴
31	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	5.54	DISEASES inferred ¹⁴
32	KRT83	Keratin 83	Protein Coding	5.5	DISEASES inferred ¹⁴
33	KRT75	Keratin 75	Protein Coding	5.49	DISEASES inferred ¹⁴
34	KRT81	Keratin 81	Protein Coding	5.45	DISEASES inferred ¹⁴
35	CDH17	Cadherin 17	Protein Coding	5.45	DISEASES inferred ¹⁴
36	LMNA	Lamin A/C	Protein Coding	5.44	DISEASES inferred ¹⁴
37	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	5.4	DISEASES inferred ¹⁴
38	KRT86	Keratin 86	Protein Coding	5.3	DISEASES inferred ¹⁴
39	WDR83OS	WD Repeat Domain 83 Opposite Strand	Protein Coding	5.3	DISEASES inferred ¹⁴
40	KRT6A	Keratin 6A	Protein Coding	5.21	DISEASES inferred ¹⁴
41	KRT73	Keratin 73	Protein Coding	5.17	DISEASES inferred ¹⁴
42	TTN	Titin	Protein Coding	5.13	DISEASES inferred ¹⁴
43	KRT85	Keratin 85	Protein Coding	5.07	DISEASES inferred ¹⁴
44	C14orf93	Chromosome 14 Open Reading Frame 93	Protein Coding	5.04	DISEASES inferred ¹⁴
45	PLEC	Plectin	Protein Coding	5.02	DISEASES inferred ¹⁴
46	HOXC13	Homeobox C13	Protein Coding	5.01	DISEASES inferred ¹⁴
47	PKP4	Plakophilin 4	Protein Coding	4.98	DISEASES inferred ¹⁴
48	VSIG8	V-Set And Immunoglobulin Domain Containing 8	Protein Coding	4.98	DISEASES inferred ¹⁴

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Variations for Familial Woolly Hair Syndrome

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Expression for Familial Woolly Hair Syndrome

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

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Pathways for Familial Woolly Hair Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.16	DSC1 DSC2 DSC3 DSG1 DSG2 DSG4
2	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways Arrhythmogenic right ventricular cardiomyopathy ⁷⁴ BMP Pathway ⁶⁴ Calpain Protease Regulates Cellular Mechanics ⁶⁴ Caspase Cascade ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ Presynaptic depolarization and calcium channel opening ⁶⁶ TOB in Osteoblast Signaling ⁶⁴	12.44	PKP2 JUP DSP DSG2 DSC2
3	Programmed Cell Death ⁶⁶ Show member pathways Apoptosis ⁶⁶	12.3	PKP1 DSP DSG2 DSG1
4	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	12.01	PKP3 PKP2 PKP1 KRT74 KRT71 KRT25
5	Epithelial to mesenchymal transition in colorectal cancer ⁷⁴	11.76	PKP2 PKP1 JUP DSP
6	Apoptotic cleavage of cellular proteins ⁶⁶ Show member pathways Apoptosis induced DNA fragmentation ⁶⁶ Apoptotic cleavage of cell adhesion proteins ⁶⁶ Apoptotic execution phase ⁶⁶ Caspase-mediated cleavage of cytoskeletal proteins ⁶⁶	11.56	PKP1 DSP DSG2 DSG1
7	Hair follicle development: cytodifferentiation - part 3 of 3 ⁷⁴	11.23	DSG4 DSG1 DSC2

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GO Terms for Familial Woolly Hair Syndrome

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell-cell junction	GO:0005911	10.23	PKP3 PKP2 JUP DSP DSG4 DSG2
2	adherens junction	GO:0005912	10.18	PKP3 PKP2 PKP1 JUP DSP DSC2
3	cell junction	GO:0030054	10.13	DSC3 DSG2 PKP3 PKP2 DSP
4	intercalated disc	GO:0014704	10.07	PKP2 JUP DSP DSG2 DSC2
5	ficolin-1-rich granule membrane	GO:0101003	10.06	DSC1 DSG1 DSP PKP1
6	intermediate filament	GO:0005882	10.06	DSP JUP KRT25 KRT71 KRT74 PKP1
7	desmosome	GO:0030057	10	DSC1 DSC2 DSC3 DSG1 DSG2 DSG4
8	anchoring junction	GO:0070161	9.9	PKP3 PKP2 PKP1 JUP DSP DSG4
9	messenger ribonucleoprotein complex	GO:1990124	9.83	PKP3 PKP2 PKP1
10	fascia adherens	GO:0005916	9.81	JUP DSP
11	Ski complex	GO:0055087	9.8	SKIC3 SKIC2
12	cornified envelope	GO:0001533	9.66	PKP1 JUP DSP DSG4 DSG2 DSG1

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	homophilic cell adhesion via plasma membrane adhesion molecules	GO:0007156	10.21	DSG4 DSG2 DSG1 DSC3 DSC2 DSC1
2	cell adhesion	GO:0007155	10.1	PKP3 PKP2 PKP1 JUP DSG4 DSG2
3	intermediate filament organization	GO:0045109	10.08	KRT74 KRT71 KRT25 DSP
4	cell-cell junction assembly	GO:0007043	10.06	PKP2 PKP3 DSG1 PKP1
5	regulation of heart rate by cardiac conduction	GO:0086091	10.02	DSP JUP PKP2 DSG2 DSC2
6	desmosome organization	GO:0002934	9.88	PKP2 DSP DSG2
7	desmosome assembly	GO:0002159	9.85	JUP PKP2 PKP3
8	regulation of ventricular cardiac muscle cell action potential	GO:0098911	9.85	DSC2 DSG2 DSP PKP2 JUP
9	intermediate filament bundle assembly	GO:0045110	9.81	PKP2 PKP1
10	negative regulation of mRNA catabolic process	GO:1902373	9.8	PKP3 PKP1
11	cell-cell adhesion	GO:0098609	9.66	PKP3 PKP2 PKP1 JUP DSP DSG4
12	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	GO:0086073	9.65	PKP2 JUP DSP DSG2 DSC2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of skin epidermis	GO:0030280	9.73	PKP1 KRT74 KRT71
2	gamma-catenin binding	GO:0045295	9.71	DSG1 DSC3
3	cell adhesion molecule binding	GO:0050839	9.7	PKP3 JUP DSP DSG2
4	lipoprotein lipase activity	GO:0004465	9.67	LIPH LIPC
5	intermediate filament binding	GO:0019215	9.62	PKP2 PKP1
6	alpha-catenin binding	GO:0045294	9.43	PKP3 PKP2 JUP
7	cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	GO:0086083	9.32	DSC2 DSG2 DSP JUP PKP2

Sources

Sources for Familial Woolly Hair Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: FML361 MIFTS: 44	Familial Woolly Hair Syndrome Categories: Genetic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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