MCID: WLL032
MIFTS: 27

Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears

Categories: Ear diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

MalaCards integrated aliases for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears:

Name: Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 57
Salamon Syndrome 57 19
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 71
Woolly Hair Hypotrichosis Everted Lower Lip and Outstanding Ears 19
Hereditary Woolly Hair 19
Woolly Hair Syndrome 19
Familial Woolly Hair 19
Woolly Hair 19

Characteristics:


Inheritance:

? Autosomal recessive 57

Classifications:



External Ids:

OMIM® 57 278200
MedGen 40 C0406718
UMLS 71 C0406718

Summaries for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

GARD: 19 A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.

MalaCards based summary: Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears, also known as salamon syndrome, is related to cardiomyopathy, dilated, with woolly hair and keratoderma and skin fragility-woolly hair syndrome. Affiliated tissues include skin, heart and liver, and related phenotypes are everted lower lip vermilion and protruding ear

More information from OMIM: 278200

Related Diseases for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Diseases related to Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, with woolly hair and keratoderma 12.0
2 skin fragility-woolly hair syndrome 11.9
3 familial woolly hair syndrome 11.9
4 naxos disease 11.9
5 woolly hair, autosomal dominant 11.8
6 hypotrichosis 7 11.8
7 woolly hair, autosomal recessive 3 11.8
8 palmoplantar keratoderma and woolly hair 11.8
9 nevus, epidermal 11.8
10 hypotrichosis 8 11.8
11 arrhythmogenic right ventricular dysplasia, familial, 11 11.7
12 cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 11.7
13 keratoderma with woolly hair 11.7
14 hypotrichosis 13 11.6
15 chand syndrome 11.2
16 erythrokeratodermia variabilis et progressiva 7 11.2
17 trichohepatoenteric syndrome 1 11.1
18 olmsted syndrome 2 11.1
19 hypotrichosis 10.8
20 palmoplantar keratosis 10.7
21 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
22 hypotrichosis simplex 10.5
23 hair disease 10.4
24 arrhythmogenic right ventricular cardiomyopathy 10.4
25 keratosis 10.4
26 hair morphology 2 10.3
27 noonan syndrome 1 10.3
28 hypotrichosis 1 10.3
29 dilated cardiomyopathy 10.3
30 alopecia 10.3
31 palmoplantar keratoderma, epidermolytic 10.3
32 ectodermal dysplasia 10.3
33 arrhythmogenic right ventricular dysplasia, familial, 8 10.3
34 skin disease 10.3
35 pili torti, early-onset 10.2
36 cardiofaciocutaneous syndrome 1 10.1
37 schimmelpenning-feuerstein-mims syndrome 10.1
38 pachyonychia congenita 1 10.1
39 uncombable hair syndrome 1 10.1
40 costello syndrome 10.1
41 palmoplantar keratoderma, nonepidermolytic 10.1
42 dermatitis, atopic 10.1
43 keratosis pilaris atrophicans 10.1
44 helix syndrome 10.1
45 mitral valve insufficiency 10.1
46 ichthyosis 10.1
47 congestive heart failure 10.1
48 erythrokeratoderma ''en cocardes'' 10.1
49 striate palmoplantar keratoderma 10.1
50 atrial standstill 1 9.9

Graphical network of the top 20 diseases related to Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears:



Diseases related to Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears

Symptoms & Phenotypes for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Human phenotypes related to Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 everted lower lip vermilion 30 HP:0000232
2 protruding ear 30 HP:0000411
3 sparse hair 30 HP:0008070
4 woolly hair 30 HP:0002224

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hair:
hypotrichosis
woolly hair

H E E N T:
everted lower lip
protruding ears

Clinical features from OMIM®:

278200 (Updated 08-Dec-2022)

Drugs & Therapeutics for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Search Clinical Trials, NIH Clinical Center for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears

Genetic Tests for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Anatomical Context for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Organs/tissues related to Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears:

MalaCards : Skin, Heart, Liver, Brain

Publications for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Articles related to Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears:

(show top 50) (show all 263)
# Title Authors PMID Year
1
[ON A FAMILY WITH THE RECESSIVE TRAIT OF WOOLLY HAIR, HYPOTRICHOSIS AND OTHER ANOMALIES]. 62 57
14113527 1963
2
Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations. 62
35238153 2022
3
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis. 62
36173926 2022
4
A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies. 62
35926655 2022
5
Two siblings with the skin fragility woolly hair syndrome. 62
35869672 2022
6
A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility. 62
35574671 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
Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review. 62
35800280 2022
9
Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia. 62
34414925 2022
10
Carvajal Syndrome- A Variant of Naxos Disease: A Case Report. 62
35210635 2022
11
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
12
Clinical and Molecular Aspects of Naxos Disease. 62
34776086 2022
13
Update of recent findings in genetic hair disorders. 62
34676598 2022
14
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
15
Type 4 Woolly Hair-Palmoplantar Keratoderma Syndrome: A Rare Entity. 62
35283492 2021
16
Co-Occurrence of Chronic Mucocutaneous Candidiasis with Woolly Hair. 62
34901186 2021
17
Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies. 62
33988877 2021
18
Autosomal recessive woolly hair and hypotrichosis in two Caucasian dizygotic twins. Description of a novel biallelic mutation in the LPAR6 gene. 62
33017051 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
A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome. 62
33114497 2020
23
Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants. 62
32667621 2020
24
Postnatal Woolly Hair: A Key to Diagnosis in Giant Axonal Neuropathy. 62
32522339 2020
25
Woolly Hair Nevus with Trichotillomania in a 9-Year-Old Boy: A Rare Case Association. 62
32684682 2020
26
Unusual Clinical Presentation of Autosomal Recessive Woolly Hair. 62
32258056 2020
27
Woolly hair nevus: case report and review of literature. 62
32155026 2020
28
Visual Dermatology: Woolly Hair Nevus. 62
31729913 2019
29
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions. 62
31037311 2019
30
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy. 62
31073624 2019
31
Keratoderma and woolly hair: an important clue for the presence of cardiac pathology. 62
31025732 2019
32
A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation. 62
30864170 2019
33
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. 62
30382575 2019
34
Woolly hair, palmoplantar keratoderma, skin fragility, and perioral fissures in a toddler. 62
30895675 2019
35
Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair. 62
29974973 2019
36
Diagnosis of Woolly Hair Using Trichoscopy. 62
30719357 2019
37
Woolly Hair Nevus Type 2: Rare Entity. 62
30820133 2019
38
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2. 62
31790498 2019
39
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. 62
30401460 2018
40
Trichoscopy in Hair Shaft Disorders. 62
30201151 2018
41
Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India. 62
30133754 2018
42
A Case of Progressive Evolution of Multiple Woolly Hair Nevi in a Child. 62
30386079 2018
43
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
44
Naxos disease: from the origin to today. 62
29747658 2018
45
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. 62
28425126 2018
46
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. 62
28899683 2018
47
Trichohepatoenteric Syndrome 62
29334452 2018
48
Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT). 62
29346610 2017
49
Clinical spectrum of woolly hair: indications for cerebral involvement. 62
29096685 2017
50
Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report. 62
29145277 2017

Variations for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Expression for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Search GEO for disease gene expression data for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears.

Pathways for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

GO Terms for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

Sources for Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding...

2 CDC
6 CNVD
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9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
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27 GO
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29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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44 MESH via Orphanet
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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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