MCID: FML361
MIFTS: 44

Familial Woolly Hair Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases
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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:

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

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...

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:



Diseases related to Familial Woolly Hair Syndrome

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

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 28

Anatomical Context for Familial Woolly Hair Syndrome

Organs/tissues related to Familial Woolly Hair Syndrome:

MalaCards : Skin, Heart, Liver, Brain

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
35238153 2022
2
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis. 62
36173926 2022
3
A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies. 62
35926655 2022
4
Two siblings with the skin fragility woolly hair syndrome. 62
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
35574671 2022
6
Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review. 62
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
35325485 2022
8
Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia. 62
34414925 2022
9
Carvajal Syndrome- A Variant of Naxos Disease: A Case Report. 62
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
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
35571060 2022
12
Clinical and Molecular Aspects of Naxos Disease. 62
34776086 2022
13
Update of recent findings in genetic hair disorders. 62
34676598 2022
14
Type 4 Woolly Hair-Palmoplantar Keratoderma Syndrome: A Rare Entity. 62
35283492 2021
15
Co-Occurrence of Chronic Mucocutaneous Candidiasis with Woolly Hair. 62
34901186 2021
16
Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies. 62
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
33017051 2021
18
Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity. 62
34926342 2021
19
Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis. 62
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
32783278 2020
21
Naxos disease - a narrative review. 62
32966140 2020
22
Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants. 62
32667621 2020
23
A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome. 62
33114497 2020
24
The curly coat phenotype of the Ural Rex feline breed is associated with a mutation in the lipase H gene. 62
32463158 2020
25
Postnatal Woolly Hair: A Key to Diagnosis in Giant Axonal Neuropathy. 62
32522339 2020
26
Unusual Clinical Presentation of Autosomal Recessive Woolly Hair. 62
32258056 2020
27
Woolly Hair Nevus with Trichotillomania in a 9-Year-Old Boy: A Rare Case Association. 62
32684682 2020
28
Woolly hair nevus: case report and review of literature. 62
32155026 2020
29
Visual Dermatology: Woolly Hair Nevus. 62
31729913 2019
30
Wooly hair nevus, Post's Type 2. 62
30697702 2019
31
Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families. 62
31077348 2019
32
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions. 62
31037311 2019
33
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy. 62
31073624 2019
34
Keratoderma and woolly hair: an important clue for the presence of cardiac pathology. 62
31025732 2019
35
A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation. 62
30864170 2019
36
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. 62
30382575 2019
37
Woolly hair, palmoplantar keratoderma, skin fragility, and perioral fissures in a toddler. 62
30895675 2019
38
Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair. 62
29974973 2019
39
Diagnosis of Woolly Hair Using Trichoscopy. 62
30719357 2019
40
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. 62
31790498 2019
41
Woolly Hair Nevus Type 2: Rare Entity. 62
30820133 2019
42
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. 62
30401460 2018
43
Trichoscopy in Hair Shaft Disorders. 62
30201151 2018
44
Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India. 62
30133754 2018
45
A Case of Progressive Evolution of Multiple Woolly Hair Nevi in a Child. 62
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
29464811 2018
47
Naxos disease: from the origin to today. 62
29747658 2018
48
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. 62
28425126 2018
49
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. 62
28899683 2018
50
Trichohepatoenteric Syndrome 62
29334452 2018

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 DSC1 DSC2 DSC3 DSG1 DSG2 DSG4
2
Show member pathways
12.44 PKP2 JUP DSP DSG2 DSC2
3
Show member pathways
12.3 PKP1 DSP DSG2 DSG1
4
Show member pathways
12.01 PKP3 PKP2 PKP1 KRT74 KRT71 KRT25
5 11.76 PKP2 PKP1 JUP DSP
6
Show member pathways
11.56 PKP1 DSP DSG2 DSG1
7 11.23 DSG4 DSG1 DSC2

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 for Familial Woolly Hair Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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