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ECTD2
MCID: CLS005
MIFTS: 60

Clouston Syndrome (ECTD2)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Clouston Syndrome

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MalaCards integrated aliases for Clouston Syndrome:

Name: Clouston Syndrome 57 11 19 42 58 75 73 14 33
Ectodermal Dysplasia 2, Clouston Type 57 11 42 73
Hidrotic Ectodermal Dysplasia 11 58 53 71
Clouston's Hidrotic Ectodermal Dysplasia 11 19 75
Hidrotic Ectodermal Dysplasia Syndrome 11 28 5
Ectd2 57 42 73
Clouston Hidrotic Ectodermal Dysplasia 57 42
Ectodermal Dysplasia, Hidrotic 19 12
Ectodermal Dysplasia 43 71
Clouston's Syndrome 11 42
Hed2 42 73
Ed2 19 73
Ectodermal Dysplasia, Hidrotic, Autosomal Dominant 57
Hidrotic Ectodermal Dysplasia, Autosomal Dominant 19
Autosomal Dominant Hidrotic Ectodermal Dysplasia 19
Ectodermal Dysplasia Hidrotic Autosomal Dominant 73
Ectodermal Dysplasia, Hidrotic, 2, Formerly 57
Hidrotic Ectodermal Dysplasia 2 42
Ectodermal Dysplasia 2 Hidrotic 73
Dysplasia, Ectodermal, Hidrotic 38
Hed2, Formerly 57
Hed 19

Characteristics:


Inheritance:

Clouston Syndrome: Autosomal dominant 57
Hidrotic Ectodermal Dysplasia: Autosomal dominant 58

Age Of Onset:

Hidrotic Ectodermal Dysplasia: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
complete penetrance with variable expressivity


HPO:

30
clouston syndrome:
Onset and clinical course variable expressivity


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Skin diseases Endocrine diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32
ICD11: 33
Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Clouston Syndrome

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MedlinePlus Genetics: 42 Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.In infants with Clouston syndrome, scalp hair is sparse, patchy, and lighter in color than the hair of other family members; it is also fragile and easily broken. By puberty, the hair problems may worsen until all the hair on the scalp is lost (total alopecia). The eyelashes, eyebrows, underarm (axillary) hair, and pubic hair are also sparse or absent.Abnormal growth of fingernails and toenails (nail dystrophy) is also characteristic of Clouston syndrome. The nails may appear white in the first years of life. They grow slowly and gradually become thick and misshapen. In some people with Clouston syndrome, nail dystrophy is the most noticeable feature of the disorder.Many people with Clouston syndrome have thick skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis); areas of the skin, especially over the joints, that are darker in color than the surrounding skin (hyperpigmentation); and widened and rounded tips of the fingers (clubbing).

MalaCards based summary: Clouston Syndrome, also known as ectodermal dysplasia 2, clouston type, is related to ectodermal dysplasia 1, hypohidrotic, x-linked and cleft lip/palate, and has symptoms including photophobia An important gene associated with Clouston Syndrome is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways are Vesicle-mediated transport and Gap junction trafficking. The drugs Immunoglobulins, Intravenous and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and endothelial, and related phenotypes are palmoplantar keratoderma and alopecia

GARD: 19 Clouston syndrome is a form of ectodermal dysplasia that is characterized by abnormalities of the skin, hair and nails. Early signs and symptoms generally begin in infancy and may include nail abnormalities and sparse scalp hair that is wiry, brittle, patchy and pale. Progressive hair loss may lead to total alopecia by puberty. Affected people may also have palmoplantar hyperkeratosis (thick skin on the palms of the hands and soles of the feet), hyperpigmentation of skin (especially over joints) and/or clubbing of the fingers. Clouston syndrome is caused by changes in the GJB6 gene and is inherited in an autosomal dominant manner.

UniProtKB/Swiss-Prot: 73 A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases.

OMIM®: 57 The main features of Clouston syndrome are dystrophy of the nails that tend to be hypoplastic and deformed with increased susceptibility to paronychial infections, defects of the hair that range from brittleness and slow growth rate to total alopecia, and moderate to severe palmoplantar hyperkeratosis with reduced keratinocyte desquamation (summary by Kibar et al., 1996). (129500) (Updated 08-Dec-2022)

Disease Ontology: 11 An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has material basis in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12.

Orphanet: 58 Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.

Wikipedia: 75 Clouston's hidrotic ectodermal dysplasia is a medical condition caused by mutations in a connexin gene,... more...
Sources

Related Diseases for Clouston Syndrome

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Diseases related to Clouston Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 795)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 1, hypohidrotic, x-linked 31.9 TP63 NECTIN1 GJB6
2 cleft lip/palate 31.1 TP63 NECTIN1
3 keratosis 30.7 GJB3 GJB2 GJA1
4 palmoplantar keratosis 30.7 GJB4 GJB3 GJB2 GJA1
5 chromosome 2q35 duplication syndrome 30.4 TP63 NECTIN1 GJA1 EVC2
6 keratitis-ichthyosis-deafness syndrome, autosomal dominant 30.3 GJB6 GJB2 GJA1
7 ainhum 30.2 GJB4 GJB2
8 nonsyndromic hearing loss and deafness, dfnb1 30.1 GJB6 GJB3 GJB2
9 deafness, autosomal dominant 3b 30.1 GJB6 GJB3 GJB2
10 deafness, autosomal recessive 1b 30.1 GJB6 GJB3 GJB2
11 deafness, autosomal recessive 1a 30.1 GJB6 GJB3 GJB2
12 nonsyndromic hearing loss 29.9 GJB6 GJB3 GJB2
13 dfnb1 29.9 TUBA3C GJB6 GJB3 GJB2
14 autosomal dominant nonsyndromic deafness 29.9 GJB6 GJB3 GJB2
15 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 29.8 TP63 NECTIN1 GJB6
16 skin disease 29.7 TP63 GJB6 GJB4 GJB3 GJB2 GJA1
17 heart septal defect 29.6 GJA5 GJA1 EVC2
18 sensorineural hearing loss 29.5 GJB6 GJB3 GJB2 GJB1
19 tooth agenesis 29.4 TP63 NECTIN1 GJB6 EVC2
20 ectodermal dysplasia 29.3 TUBA3C TP63 NECTIN1 GJB6 GJB4 GJB3
21 palmoplantar keratoderma and congenital alopecia 1 29.2 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2
22 orofacial cleft 29.2 TP63 NECTIN1 EVC2
23 atrial heart septal defect 29.1 GJA5 GJA1 EVC2
24 oculodentodigital dysplasia 28.0 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2
25 cleft lip/palate-ectodermal dysplasia syndrome 11.9
26 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 11.8
27 halal setton wang syndrome 11.8
28 rapp-hodgkin syndrome 11.8
29 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.7
30 ectodermal dysplasia 7, hair/nail type 11.7
31 ectodermal dysplasia/skin fragility syndrome 11.7
32 ectodermal dysplasia 9, hair/nail type 11.7
33 ectodermal dysplasia-syndactyly syndrome 1 11.7
34 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 11.7
35 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.7
36 ectodermal dysplasia 13, hair/tooth type 11.7
37 ectodermal dysplasia, hidrotic, christianson-fourie type 11.7
38 ectodermal dysplasia 14, hair/tooth type, with or without hypohidrosis 11.6
39 ectodermal dysplasia 15, hypohidrotic/hair type 11.6
40 schopf-schulz-passarge syndrome 11.6
41 ectodermal dysplasia, trichoodontoonychial type 11.6
42 cerebellar ataxia and ectodermal dysplasia 11.6
43 aredyld 11.6
44 ectodermal dysplasia 6, hair/nail type 11.6
45 congenital ectodermal dysplasia with hearing loss 11.6
46 ectodermal dysplasia 5, hair/nail type 11.6
47 odontoonychodermal dysplasia 11.6
48 lelis syndrome 11.6
49 ectodermal dysplasia and immune deficiency 11.6
50 ectodermal dysplasia/short stature syndrome 11.5

Graphical network of the top 20 diseases related to Clouston Syndrome:



Diseases related to Clouston Syndrome
Sources

Symptoms & Phenotypes for Clouston Syndrome

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Human phenotypes related to Clouston Syndrome:

58 30 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000982
2 alopecia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001596
3 nail dystrophy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008404
4 sparse eyebrow 58 30 Frequent (33%) Frequent (79-30%)
 HP:0045075
5 sparse eyelashes 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000653
6 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000365
7 hypopigmentation of hair 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005599
8 sparse scalp hair 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002209
9 fine hair 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002213
10 small nail 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001792
11 sparse axillary hair 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002215
12 absent axillary hair 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002221
13 sparse pubic hair 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002225
14 absent pubic hair 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002555
15 absent eyebrow 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002223
16 anonychia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001798
17 slow-growing nails 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0008383
18 hyperkeratotic papule 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0045059
19 hyperpigmentation of the skin 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000953
20 clubbing of fingers 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100759
21 cobblestone-like hyperkeratosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0031288
22 generalized hypotrichosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004528
23 brittle scalp hair 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004779
24 abnormal metacarpophalangeal joint morphology 30 Occasional (7.5%) HP:0011911
25 palmoplantar hyperkeratosis 58 30 Frequent (79-30%)
 HP:0000972
26 cataract 30 HP:0000518
27 abnormality of the dentition 30 HP:0000164
28 short stature 30 HP:0004322
29 photophobia 30 HP:0000613
30 strabismus 30 HP:0000486
31 conjunctivitis 30 HP:0000509
32 blepharitis 30 HP:0000498
33 nail dysplasia 30 HP:0002164
34 sparse hair 58 Frequent (79-30%)
35 thickened skin 58 Occasional (29-5%)
36 onycholysis 30 HP:0001806
37 alopecia totalis 30 HP:0007418
38 slow-growing hair 30 HP:0002217
39 brittle hair 30 HP:0002299
40 ectodermal dysplasia 30 HP:0000968
41 abnormality of metacarpophalangeal joint 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
cataract
photophobia
strabismus
conjunctivitis
blepharitis
more
Skin Nails Hair Hair:
sparse eyelashes
absent axillary hair
absent pubic hair
sparse eyebrows
fine, brittle, slow-growing hair
more
Skin Nails Hair Skin:
palmoplantar hyperkeratosis
normal sweating capacity
hyperpigmentation (knuckles, elbows, axillae, areolae, pubic area)

Skeletal Hands:
thick, dyskeratotic palms
clubbed digits

Growth Height:
short stature

Skin Nails Hair Nails:
onycholysis
hypoplastic nails
onychodystrophy, severe
thick, discolored nails

Head And Neck Teeth:
normal teeth

Skeletal Feet:
thick, dyskeratotic soles

Clinical features from OMIM®:

129500 (Updated 08-Dec-2022)

UMLS symptoms related to Clouston Syndrome:


photophobia

MGI Mouse Phenotypes related to Clouston Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 EVC2 GJA1 GJB1 GJB2 GJB3 GJB4
2 no phenotypic analysis MP:0003012 9.91 GJA1 GJA5 GJB2 GJB3 GJB6 GJC1
3 cardiovascular system MP:0005385 9.91 EVC2 GJA1 GJA4 GJA5 GJB2 GJB3
4 reproductive system MP:0005389 9.76 EVC2 GJA1 GJA4 GJA5 GJB2 GJB4
5 mortality/aging MP:0010768 9.7 EVC2 GJA1 GJA4 GJA5 GJB1 GJB2
6 integument MP:0010771 9.17 EVC2 GJA1 GJB2 GJB3 GJB6 NECTIN1
Sources

Drugs & Therapeutics for Clouston Syndrome

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Drugs for Clouston Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins, Intravenous Phase 2
2 Immunoglobulin G Phase 2
3
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
4 Antioxidants
5 Protective Agents
6 Immunoglobulins
7 Antibodies

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 A Phase 2 Open-label, Dose-escalation Study to Evaluate the Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200, an EDA-A1 Replacement Protein, Administered to Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Completed NCT01775462 Phase 2 EDI200
2 A Prospective, Open-label, Genotype-match Controlled, Multicenter Clinical Trial to Investigate the Efficacy and Safety of Intra-amniotic ER004 as a Prenatal Treatment for Male Subjects With XLHED Recruiting NCT04980638 Phase 2
3 A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200, an Ectodysplasin-A1 Replacement Molecule, in X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Adults Completed NCT01564225 Phase 1 EDI200
4 Patient Satisfaction of Soft Liner Versus Acrylic Resin Telescopes in Complete Overdenture Patients With Ectodermal Dysplasia: Non-Randomized Clinical Trial Unknown status NCT03127033
5 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
6 Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status Completed NCT01629940
7 Survey of X-Linked Hypohidrotic Ectodermal Dysplasia Carrier Women's Outlook Towards Reproduction, Potential XLHED Treatments and Genetic Testing Completed NCT01398813
8 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
9 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
10 Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition Completed NCT01871714
11 SARS-CoV-2 Infections in Children and Adolescents: Course of COVID-19, Immune Responses, Complications and Long-term Consequences in Entire Households With Members Younger Than 18 Years Completed NCT04741412
12 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia (Christ-Siemens-Touraine Syndrome) Completed NCT01135888
13 Validation of Non-invasive Technologies for the Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia, Their Heterozygous Family Members and Healthy Controls Completed NCT01109290
14 Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members Completed NCT01108770
15 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
16 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
17 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia Completed NCT01293565
18 Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
19 Clinical Study of Oral Endosseous Titanium Implants in Edentulous Subjects Completed NCT00001211
20 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
21 Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630421
22 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
23 Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia Not yet recruiting NCT05378932
24 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
25 Ex Vivo and in Vitro Assessment of the Pharmacological Properties of Molecule Prima in the Restoration of Physiological Differentiation of Gene p63 Dependant Epithelium Terminated NCT02896387
26 A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by X-Linked Hypohidrotic XLHED Ectodermal Dysplasia (XLHED) Withdrawn NCT03912792

Search NIH Clinical Center for Clouston Syndrome

Cochrane evidence based reviews: ectodermal dysplasia

Sources

Genetic Tests for Clouston Syndrome

About this section

Genetic tests related to Clouston Syndrome:

# Genetic test Affiliating Genes
1 Hidrotic Ectodermal Dysplasia Syndrome 28 GJB6
Sources

Anatomical Context for Clouston Syndrome

About this section

Organs/tissues related to Clouston Syndrome:

MalaCards : Skin, Eye, Endothelial, Heart
Sources

Publications for Clouston Syndrome

About this section

Articles related to Clouston Syndrome:

(show top 50) (show all 149)
# Title Authors PMID Year
1
Mutations in GJB6 cause hidrotic ectodermal dysplasia. 62 57 5
11017065 2000
2
A novel connexin 30 mutation in Clouston syndrome. 53 62 5
11874494 2002
3
[A gene study of a family with hidrotic ectodermal dysplasia]. 62 5
27817781 2016
4
Immune system disturbances in Clouston syndrome. 62 5
26551294 2016
5
Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. 62 5
23981984 2013
6
[Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia]. 62 5
23926005 2013
7
GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. 62 5
23219093 2013
8
G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family. 62 5
20536673 2010
9
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. 62 5
15213106 2004
10
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. 62 5
12788524 2003
11
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. 62 57
10854098 2000
12
Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family. 62 57
10730756 2000
13
Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia. 62 57
10354044 1999
14
Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations. 62 57
9665391 1998
15
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. 62 57
9215774 1997
16
Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17. 62 57
8752831 1996
17
The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. 62 57
8845850 1996
18
Clouston syndrome: an ectodermal dysplasia without significant dental findings. 62 57
8741874 1996
19
Clouston syndrome: an ultrastructural study. 62 57
6616952 1983
20
Hidrotic ectodermal dysplasia: study of a large Chinese pedigree. 62 57
139851 1977
21
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 5
25262649 2014
22
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia. 5
24514865 2014
23
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 5
16950989 2006
24
Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. 5
15769851 2005
25
Functional studies of human skin disease- and deafness-associated connexin 30 mutations. 5
12419304 2002
26
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. 5
11807148 2002
27
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? 5
11896458 2002
28
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 57
9139825 1997
29
Properties of hair keratin in an autosomal dominant form of ectodermal dysplasia. 57
5054225 1972
30
The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia. 57
5173317 1971
31
Hydrotic ectodermal dysplasia--Clouston's family revisited. 57
6016585 1967
32
Squamous-cell carcinoma of the nail bed in epidermal dysplasia. 57
5902801 1966
33
Family with Inherited Ectodermal Dystrophy. 57
20323542 1945
34
THE MAJOR FORMS OF HEREDITARY ECTODERMAL DYSPLASIA : (With an Autopsy and Biopsies on the Anhydrotic Type). 57
20321205 1939
35
A Hereditary Ectodermal Dystrophy. 57
20317409 1929
36
Clouston syndrome and eccrine syringofibroadenomas. 53 62
19318801 2009
37
[Mutation screening and prenatal diagnosis of hidrotic ectodermal dysplasia in a Chinese family]. 53 62
17160938 2006
38
A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. 53 62
15245427 2004
39
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. 53 62
15140211 2004
40
Clouston syndrome can mimic pachyonychia congenita. 53 62
14708603 2003
41
Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2). 53 62
9465305 1998
42
A case of hidrotic ectodermal dysplasia with developing eccrine syringofibroadenoma with heterozygous mutation of GJB6 gene. 62
36052808 2022
43
The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome. 62
36198631 2022
44
Malignant melanoma in a patient with hidrotic ectodermal dysplasia. 62
35723819 2022
45
Clouston Syndrome. 62
33658115 2021
46
A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia. 62
32843087 2020
47
A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice. 62
32553574 2020
48
Connexin hemichannel inhibition improves skin pathology in Clouston syndrome mice. 62
32629388 2020
49
Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma. 62
32220018 2020
50
Clouston syndrome with dental anomalies, micropores of hair shafts and absence of palmoplantar keratoderma. 62
31960478 2020
Sources

Variations for Clouston Syndrome

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ClinVar genetic disease variations for Clouston Syndrome:

5 (show top 50) (show all 82)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB6 NC_000013.10:g.(?_20797176)_21105944del DEL Pathogenic
 1072828 GRCh37:
GRCh38:
2 GJB6 NM_001110219.3(GJB6):c.110T>A (p.Val37Glu) SNV Pathogenic
 5547 rs104894416 GRCh37: 13:20797510-20797510
GRCh38: 13:20223371-20223371
3 GJB6 NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) SNV Pathogenic
Pathogenic
 5545 rs28937872 GRCh37: 13:20797357-20797357
GRCh38: 13:20223218-20223218
4 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic
Pathogenic
Pathogenic
 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
5 GJB6 NM_001110219.3(GJB6):c.63del (p.Lys22fs) DEL Likely Pathogenic
Uncertain Significance
 311382 rs770612890 GRCh37: 13:20797557-20797557
GRCh38: 13:20223418-20223418
6 GJB6 NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) SNV Uncertain Significance
 536989 rs141752846 GRCh37: 13:20796989-20796989
GRCh38: 13:20222850-20222850
7 GJB6 NM_001110219.3(GJB6):c.228del (p.Trp77fs) DEL Uncertain Significance
 837505 rs751484173 GRCh37: 13:20797392-20797392
GRCh38: 13:20223253-20223253
8 GJB6 NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) SNV Uncertain Significance
 663718 rs571454176 GRCh37: 13:20797319-20797319
GRCh38: 13:20223180-20223180
9 GJB6 NM_001110219.3(GJB6):c.60C>T (p.Ile20=) SNV Uncertain Significance
Likely Benign
 311383 rs778513540 GRCh37: 13:20797560-20797560
GRCh38: 13:20223421-20223421
10 GJB6 NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) SNV Uncertain Significance
Uncertain Significance
 311379 rs199790650 GRCh37: 13:20796940-20796940
GRCh38: 13:20222801-20222801
11 GJB6 NM_001110219.3(GJB6):c.177A>G (p.Gly59=) SNV Uncertain Significance
Likely Benign
 196442 rs371123633 GRCh37: 13:20797443-20797443
GRCh38: 13:20223304-20223304
12 GJB6 NM_001110219.3(GJB6):c.405G>A (p.Thr135=) SNV Uncertain Significance
Likely Benign
 311381 rs145438428 GRCh37: 13:20797215-20797215
GRCh38: 13:20223076-20223076
13 GJB6 NM_001110219.3(GJB6):c.-33G>A SNV Uncertain Significance
 882817 rs533982140 GRCh37: 13:20803736-20803736
GRCh38: 13:20229597-20229597
14 GJB6 NM_001110219.3(GJB6):c.-106G>T SNV Uncertain Significance
 882819 rs555718664 GRCh37: 13:20803809-20803809
GRCh38: 13:20229670-20229670
15 GJB6 NM_001110219.3(GJB6):c.*192C>T SNV Uncertain Significance
 883561 rs761029974 GRCh37: 13:20796642-20796642
GRCh38: 13:20222503-20222503
16 GJB6 NM_001110219.3(GJB6):c.742A>G (p.Ile248Val) SNV Uncertain Significance
 883562 rs747371119 GRCh37: 13:20796878-20796878
GRCh38: 13:20222739-20222739
17 GJB6 NM_001110219.3(GJB6):c.212T>C (p.Val71Ala) SNV Uncertain Significance
Uncertain Significance
 881662 rs200172266 GRCh37: 13:20797408-20797408
GRCh38: 13:20223269-20223269
18 GJB6 NM_001110219.3(GJB6):c.30C>T (p.Ile10=) SNV Uncertain Significance
Likely Benign
 724026 rs377181573 GRCh37: 13:20797590-20797590
GRCh38: 13:20223451-20223451
19 GJB6 NM_001110219.3(GJB6):c.672A>G (p.Arg224=) SNV Uncertain Significance
Likely Benign
 285401 rs756597598 GRCh37: 13:20796948-20796948
GRCh38: 13:20222809-20222809
20 GJB6 NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) SNV Uncertain Significance
 969013 rs200480676 GRCh37: 13:20797102-20797102
GRCh38: 13:20222963-20222963
21 GJB6 NM_001110219.3(GJB6):c.352A>G (p.Ile118Val) SNV Uncertain Significance
 1043052 rs1869317427 GRCh37: 13:20797268-20797268
GRCh38: 13:20223129-20223129
22 GJB6 NM_001110219.3(GJB6):c.458T>G (p.Val153Gly) SNV Uncertain Significance
 1482975 GRCh37: 13:20797162-20797162
GRCh38: 13:20223023-20223023
23 GJB6 NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp) SNV Uncertain Significance
 1474469 GRCh37: 13:20797397-20797397
GRCh38: 13:20223258-20223258
24 GJB6 NM_001110219.3(GJB6):c.619G>A (p.Val207Met) SNV Uncertain Significance
Uncertain Significance
 45507 rs146231737 GRCh37: 13:20797001-20797001
GRCh38: 13:20222862-20222862
25 GJB6 NM_001110219.3(GJB6):c.689dup (p.Asn230fs) DUP Uncertain Significance
 95435 rs398124237 GRCh37: 13:20796930-20796931
GRCh38: 13:20222791-20222792
26 GJB6 NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) SNV Uncertain Significance
 1408221 GRCh37: 13:20797192-20797192
GRCh38: 13:20223053-20223053
27 GJB6 NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg) SNV Uncertain Significance
 1391604 GRCh37: 13:20797249-20797249
GRCh38: 13:20223110-20223110
28 GJB6 NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln) SNV Uncertain Significance
 1447347 GRCh37: 13:20797525-20797525
GRCh38: 13:20223386-20223386
29 GJB6 NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg) SNV Uncertain Significance
 1496632 GRCh37: 13:20796867-20796867
GRCh38: 13:20222728-20222728
30 GJB6 NM_001110219.3(GJB6):c.458T>C (p.Val153Ala) SNV Uncertain Significance
 1447794 GRCh37: 13:20797162-20797162
GRCh38: 13:20223023-20223023
31 GJB6 NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) SNV Uncertain Significance
 426683 rs750540794 GRCh37: 13:20797441-20797441
GRCh38: 13:20223302-20223302
32 overlap with 11 genes NC_000013.10:g.(?_20716100)_(21398980_?)dup DUP Uncertain Significance
 656832 GRCh37: 13:20716100-21398980
GRCh38: 13:20141961-20824841
33 GJB6 NM_001110219.3(GJB6):c.393G>A (p.Ser131=) SNV Uncertain Significance
 881196 rs200353369 GRCh37: 13:20797227-20797227
GRCh38: 13:20223088-20223088
34 GJB6 NM_001110219.3(GJB6):c.311G>A (p.Arg104His) SNV Uncertain Significance
 881661 rs549918398 GRCh37: 13:20797309-20797309
GRCh38: 13:20223170-20223170
35 GJB6 NM_001110219.3(GJB6):c.109G>A (p.Val37Met) SNV Uncertain Significance
 881663 rs761985641 GRCh37: 13:20797511-20797511
GRCh38: 13:20223372-20223372
36 GJB6 NM_001110219.3(GJB6):c.-295-99A>C SNV Uncertain Significance
 311391 rs886050035 GRCh37: 13:20805045-20805045
GRCh38: 13:20230906-20230906
37 GJB6 NM_001110219.3(GJB6):c.-122T>C SNV Uncertain Significance
 311387 rs886050031 GRCh37: 13:20803825-20803825
GRCh38: 13:20229686-20229686
38 GJB6 NM_001110219.3(GJB6):c.*628G>T SNV Uncertain Significance
 311374 rs577545882 GRCh37: 13:20796206-20796206
GRCh38: 13:20222067-20222067
39 GJB6 NM_001110219.3(GJB6):c.-26A>G SNV Uncertain Significance
 311385 rs886050030 GRCh37: 13:20803729-20803729
GRCh38: 13:20229590-20229590
40 GJB6 NM_001110219.3(GJB6):c.666A>G (p.Ser222=) SNV Uncertain Significance
 311380 rs138571061 GRCh37: 13:20796954-20796954
GRCh38: 13:20222815-20222815
41 GJB6 NM_001110219.3(GJB6):c.*559C>T SNV Uncertain Significance
 311375 rs886050029 GRCh37: 13:20796275-20796275
GRCh38: 13:20222136-20222136
42 GJB6 NM_001110219.3(GJB6):c.-149G>A SNV Uncertain Significance
 311388 rs886050032 GRCh37: 13:20803852-20803852
GRCh38: 13:20229713-20229713
43 GJB6 NM_001110219.3(GJB6):c.-166A>C SNV Uncertain Significance
 311389 rs886050033 GRCh37: 13:20803869-20803869
GRCh38: 13:20229730-20229730
44 GJB6 NM_001110219.3(GJB6):c.*25C>T SNV Uncertain Significance
 311378 rs112845420 GRCh37: 13:20796809-20796809
GRCh38: 13:20222670-20222670
45 GJB6 NM_001110219.3(GJB6):c.-178C>T SNV Uncertain Significance
 311390 rs886050034 GRCh37: 13:20803881-20803881
GRCh38: 13:20229742-20229742
46 GJB6 NM_001110219.3(GJB6):c.-3G>A SNV Uncertain Significance
 311384 rs372835743 GRCh37: 13:20797622-20797622
GRCh38: 13:20223483-20223483
47 GJB6 NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu) SNV Uncertain Significance
 179782 rs727505123 GRCh37: 13:20797411-20797411
GRCh38: 13:20223272-20223272
48 GJB6 NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu) SNV Uncertain Significance
 1699284 GRCh37: 13:20797027-20797027
GRCh38: 13:20222888-20222888
49 GJB6 NM_001110219.3(GJB6):c.176G>T (p.Gly59Val) SNV Uncertain Significance
 1721249 GRCh37: 13:20797444-20797444
GRCh38: 13:20223305-20223305
50 GJB6 NM_001110219.3(GJB6):c.781A>G (p.Ser261Gly) SNV Uncertain Significance
 450929 rs143962007 GRCh37: 13:20796839-20796839
GRCh38: 13:20222700-20222700

UniProtKB/Swiss-Prot genetic disease variations for Clouston Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 GJB6 p.Gly11Arg VAR_015696 rs104894415
2 GJB6 p.Ala88Val VAR_015697 rs28937872
3 GJB6 p.Val37Glu VAR_016838 rs104894416

Sources

Expression for Clouston Syndrome

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Search GEO for disease gene expression data for Clouston Syndrome.
Sources

Pathways for Clouston Syndrome

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Pathways related to Clouston Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Vesicle-mediated transport 66
Show member pathways
 13.11 TUBA3C GJC1 GJB6 GJB5 GJB4 GJB3
2
Gap junction trafficking 66
Show member pathways
 12.3 GJA1 GJA4 GJA5 GJB1 GJB2 GJB3
3
G-protein signaling G-Protein alpha-i signaling cascades 22
Show member pathways
 12.29 GJA1 GJA4 GJA5 GJB1 GJB2 GJB3
4
Myometrial relaxation and contraction pathways 74
Show member pathways
 11.81 GJA1 GJA4 GJA5 GJB1 GJB2 GJB3
5
Cell adhesion_Endothelial cell contacts by junctional mechanisms 22
11.05 GJA5 GJA4 GJA1
6
1q21.1 copy number variation syndrome 74
10.87 GJA5 GJA1
7
Transport of connexins along the secretory pathway 66
Show member pathways
 10.28 GJB2 GJB1 GJA1
Sources

GO Terms for Clouston Syndrome

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Cellular components related to Clouston Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.48 NECTIN1 GJC1 GJB6 GJB5 GJB4 GJB3
2 plasma membrane GO:0005887 10.48 GJB4 GJB2 GJA5 GJA4 GJA1
3 membrane GO:0016020 10.35 EVC2 GJA1 GJA4 GJA5 GJB1 GJB2
4 membrane GO:0016021 10.35 EVC2 GJA1 GJA4 GJA5 GJB1 GJB2
5 cell junction GO:0030054 9.97 GJB6 GJB4 GJB3 GJB2 GJA1
6 gap junction GO:0005921 9.89 GJA1 GJA4 GJA5 GJB1 GJB2 GJB3
7 intercalated disc GO:0014704 9.85 GJA1 GJA5 GJC1
8 anchoring junction GO:0070161 9.85 GJA1 GJA4 GJA5 GJB1 GJB2 GJB3
9 connexin complex GO:0005922 9.62 GJA1 GJA4 GJA5 GJB1 GJB2 GJB3

Biological processes related to Clouston Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.21 GJA1 GJA4 GJA5 GJB1 GJB2 GJB3
2 cell-cell signaling GO:0007267 10.16 GJA1 GJA4 GJA5 GJB1 GJB2 GJB3
3 gap junction-mediated intercellular transport GO:1990349 9.88 GJB2 GJB4 GJB6
4 cell communication by electrical coupling GO:0010644 9.87 GJB6 GJB2 GJA5 GJA1
5 epididymis development GO:1905867 9.85 GJB5 GJB2 GJB1
6 cardiac conduction system development GO:0003161 9.83 GJA5 GJA1
7 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.81 GJA5 GJA1
8 atrial cardiac muscle cell action potential GO:0086014 9.8 GJC1 GJA1
9 endothelium development GO:0003158 9.78 GJA5 GJA4
10 AV node cell to bundle of His cell communication by electrical coupling GO:0086053 9.76 GJC1 GJA5
11 SA node cell to atrial cardiac muscle cell communication by electrical coupling GO:0086021 9.73 GJC1 GJA5
12 gap junction assembly GO:0016264 9.73 GJC1 GJB6 GJB2 GJB1 GJA5 GJA1
13 cell communication GO:0007154 9.32 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2

Molecular functions related to Clouston Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction hemi-channel activity GO:0055077 9.67 GJA5 GJA1
2 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling GO:0086077 9.62 GJC1 GJA5
3 gap junction channel activity GO:0005243 9.62 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2
4 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.56 GJA5 GJA1
5 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling GO:0086020 9.46 GJC1 GJA5
6 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.43 GJA1 GJB2 GJB6
Sources

Sources for Clouston Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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