ECTD2
MCID: CLS005
MIFTS: 58

Clouston Syndrome (ECTD2)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Clouston Syndrome

MalaCards integrated aliases for Clouston Syndrome:

Name: Clouston Syndrome 56 12 74 52 25 58 73 15
Ectodermal Dysplasia 2, Clouston Type 56 12 25 73 13
Hidrotic Ectodermal Dysplasia 12 58 54 71
Hidrotic Ectodermal Dysplasia Syndrome 12 29 6
Ectd2 56 25 73
Clouston's Hidrotic Ectodermal Dysplasia 12 52
Clouston Hidrotic Ectodermal Dysplasia 56 25
Ectodermal Dysplasia 43 71
Clouston's Syndrome 12 25
Hed2 25 73
Ed2 52 73
Ectodermal Dysplasia, Hidrotic, 2, Formerly; Hed2, Formerly 56
Ectodermal Dysplasia, Hidrotic, Autosomal Dominant 56
Hidrotic Ectodermal Dysplasia, Autosomal Dominant 52
Autosomal Dominant Hidrotic Ectodermal Dysplasia 52
Ectodermal Dysplasia Hidrotic Autosomal Dominant 73
Ectodermal Dysplasia 2, Clouston Type; Ectd2 56
Ectodermal Dysplasia, Hidrotic, 2, Formerly 56
Hidrotic Ectodermal Dysplasia 2 25
Ectodermal Dysplasia 2 Hidrotic 73
Dysplasia, Ectodermal, Hidrotic 39
Ectodermal Dysplasia, Hidrotic 52
Hed2, Formerly 56
Hed 52

Characteristics:

Orphanet epidemiological data:

58
hidrotic ectodermal dysplasia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
complete penetrance with variable expressivity


HPO:

31
clouston syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Clouston Syndrome

Genetics Home Reference : 25 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 cleft lip/palate-ectodermal dysplasia syndrome and ectodermal dysplasia 10b, 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 G-Beta Gamma Signaling. The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are alopecia and irregular hyperpigmentation

NIH Rare Diseases : 52 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 (mutations ) in the GJB6 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 Ectodermal dysplasia 2, Clouston type: 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.

Wikipedia : 74 Clouston's hidrotic ectodermal dysplasia is caused by mutations in a connexin gene, GJB6 or connexin-30,... more...

Related Diseases for Clouston Syndrome

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

(show top 50) (show all 644)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate-ectodermal dysplasia syndrome 33.8 TP63 NECTIN1
2 ectodermal dysplasia 10b 33.3 EDARADD EDAR
3 ankyloblepharon-ectodermal defects-cleft lip/palate 33.0 TP63 EDAR
4 keratitis-ichthyosis-deafness syndrome, autosomal dominant 32.7 GJB6 GJB2 GJA1
5 schopf-schulz-passarge syndrome 32.4 EDARADD EDAR
6 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 32.4 EDARADD EDAR
7 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 32.4 EDARADD EDAR
8 palmoplantar keratoderma and congenital alopecia 1 31.6 GJB4 GJB3 GJB2 GJA1
9 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 31.6 EDARADD EDAR
10 hypohidrotic ectodermal dysplasia autosomal recessive 31.1 EDARADD EDAR
11 oculodentodigital dysplasia 30.9 GJC1 GJB6 GJB4 GJB3 GJB2 GJB1
12 limbal stem cell deficiency 30.7 TP63 GJA1
13 nonsyndromic hearing loss and deafness, dfna3 30.6 GJB6 GJB2
14 ectodermal dysplasia 1, hypohidrotic, x-linked 30.6 NECTIN1 GJB6 EDARADD EDAR
15 chromosome 2q35 duplication syndrome 30.4 TP63 NECTIN1 GJA1 EVC
16 nonsyndromic hearing loss and deafness, dfnb1 30.3 GJB6 GJB3 GJB2
17 erythrokeratoderma 30.2 GJB4 GJB3 GJB2 GJA1
18 palmoplantar keratosis 30.2 GJB6 GJB4 GJB3 GJB2 GJA1
19 autosomal recessive congenital ichthyosis 29.7 GJB4 GJB3 EDAR
20 skin disease 29.5 TP63 GJB6 GJB4 GJB3 GJB2 GJA1
21 atrial heart septal defect 29.4 GJA1 EVC2 EVC
22 pseudoainhum 29.4 GJB6 GJB4 GJB3 GJB2 GJA1
23 ectodermal dysplasia 4, hair/nail type 29.3 EDARADD EDAR
24 hypotrichosis 28.9 GJB4 GJB3 GJB2 GJA1 EDARADD EDAR
25 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 28.7 NECTIN1 GJB6 EDARADD EDAR
26 anodontia 28.6 EVC2 EVC EDARADD EDAR
27 tooth agenesis 27.7 TP63 NECTIN1 EVC2 EVC EDARADD EDAR
28 ectodermal dysplasia 26.7 TUBA3C TP63 NECTIN1 GJB6 GJB4 GJB3
29 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 12.8
30 ectodermal dysplasia/skin fragility syndrome 12.8
31 ectodermal dysplasia 7, hair/nail type 12.8
32 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.8
33 ectodermal dysplasia 9, hair/nail type 12.8
34 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.8
35 ectodermal dysplasia-syndactyly syndrome 1 12.7
36 ectodermal dysplasia, trichoodontoonychial type 12.7
37 ectodermal dysplasia 13, hair/tooth type 12.7
38 ectodermal dysplasia 6, hair/nail type 12.7
39 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.7
40 ectodermal dysplasia 5, hair/nail type 12.7
41 ectodermal dysplasia/short stature syndrome 12.7
42 cerebellar ataxia and ectodermal dysplasia 12.7
43 immunodeficiency without anhidrotic ectodermal dysplasia 12.6
44 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 12.6
45 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.6
46 ectodermal dysplasia 15, hypohidrotic/hair type 12.6
47 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 12.6
48 congenital heart defects and ectodermal dysplasia 12.5
49 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 12.5
50 arthrogryposis and ectodermal dysplasia 12.5

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



Diseases related to Clouston Syndrome

Symptoms & Phenotypes for Clouston Syndrome

Human phenotypes related to Clouston Syndrome:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
2 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
3 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
4 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
5 abnormality of nail color 58 31 hallmark (90%) Very frequent (99-80%) HP:0100643
6 sparse axillary hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002215
7 sparse pubic hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002225
8 hyperconvex nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001795
9 onycholysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001806
10 fragile nails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001808
11 onychogryposis 31 hallmark (90%) HP:0001805
12 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
13 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
14 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
15 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
16 palmoplantar keratoderma 58 31 frequent (33%) Frequent (79-30%) HP:0000982
17 fine hair 58 31 frequent (33%) Frequent (79-30%) HP:0002213
18 sparse eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000653
19 sparse and thin eyebrow 31 frequent (33%) HP:0000535
20 craniofacial hyperostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004493
21 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
22 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
23 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
24 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
25 clubbing of toes 58 31 occasional (7.5%) Occasional (29-5%) HP:0100760
26 abnormal nasolacrimal system morphology 31 occasional (7.5%) HP:0000614
27 nail dysplasia 58 31 Very frequent (99-80%) HP:0002164
28 abnormality of the dentition 31 HP:0000164
29 hypotrichosis 58 Frequent (79-30%)
30 conjunctivitis 31 HP:0000509
31 blepharitis 31 HP:0000498
32 sparse hair 58 Frequent (79-30%)
33 slow-growing hair 31 HP:0002217
34 nail dystrophy 31 HP:0008404
35 sparse eyebrow 58 Frequent (79-30%)
36 small nail 31 HP:0001792
37 absent axillary hair 31 HP:0002221
38 absent pubic hair 31 HP:0002555
39 abnormality of the nasolacrimal system 58 Occasional (29-5%)
40 thick nail 58 Very frequent (99-80%)
41 alopecia totalis 31 HP:0007418
42 palmoplantar hyperkeratosis 31 HP:0000972
43 brittle hair 31 HP:0002299
44 ectodermal dysplasia 31 HP:0000968
45 hyperpigmentation of the skin 31 HP:0000953

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Clouston Syndrome:


photophobia

MGI Mouse Phenotypes related to Clouston Syndrome:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.2 EDAR EDARADD EVC EVC2 GJA1 GJB1
2 cardiovascular system MP:0005385 10.1 EDAR GJA1 GJB2 GJB3 GJB4 GJB6
3 craniofacial MP:0005382 10.08 EDAR EDARADD EVC EVC2 GJA1 GJB2
4 mortality/aging MP:0010768 10.06 EDAR EDARADD EVC EVC2 GJA1 GJB1
5 integument MP:0010771 10.01 EDAR EDARADD GJA1 GJB2 GJB3 GJB6
6 limbs/digits/tail MP:0005371 9.91 EDAR EDARADD EVC EVC2 GJA1 GJB2
7 hearing/vestibular/ear MP:0005377 9.83 EDARADD GJA1 GJB2 GJB3 GJB6
8 no phenotypic analysis MP:0003012 9.73 GJA1 GJB2 GJB3 GJB6 GJC1 TP63
9 reproductive system MP:0005389 9.7 EDAR EDARADD EVC GJA1 GJB2 GJB4
10 skeleton MP:0005390 9.56 EDAR EDARADD EVC EVC2 GJA1 GJB2
11 vision/eye MP:0005391 9.23 EDAR EDARADD GJA1 GJB1 GJB2 GJC1

Drugs & Therapeutics for Clouston Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies
2 Immunoglobulins

Interventional clinical trials:

(show all 24)
# 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 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
3 Patient Satisfaction of Soft Liner Versus Acrylic Resin Telescopes in Complete Overdenture Patients With Ectodermal Dysplasia: Non-Randomized Clinical Trial Unknown status NCT03127033
4 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia Completed NCT01293565
5 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
6 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
7 Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
8 Survey of X-Linked Hypohidrotic Ectodermal Dysplasia Carrier Women's Outlook Towards Reproduction, Potential XLHED Treatments and Genetic Testing Completed NCT01398813
9 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
10 Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition Completed NCT01871714
11 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia (Christ-Siemens-Touraine Syndrome) Completed NCT01135888
12 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
13 Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members Completed NCT01108770
14 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
15 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
16 Clinical Study of Oral Endosseous Titanium Implants in Edentulous Subjects Completed NCT00001211
17 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
18 Growth Arrest in Focal Dermal Hypoplasia Completed NCT02463656
19 Ex Vivo and in Vitro Assessment of the Pharmacological Properties of Molecule Prima in the Restoration of Physiological Differentiation of Gene p63 Dependant Epithelium Recruiting NCT02896387
20 Identification of Mutations That Lead to Aplasia Cutis Congenita in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630421
21 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
23 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
24 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

Genetic Tests for Clouston Syndrome

Genetic tests related to Clouston Syndrome:

# Genetic test Affiliating Genes
1 Hidrotic Ectodermal Dysplasia Syndrome 29 GJB6

Anatomical Context for Clouston Syndrome

MalaCards organs/tissues related to Clouston Syndrome:

40
Skin, Eye, Testes

Publications for Clouston Syndrome

Articles related to Clouston Syndrome:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Mutations in GJB6 cause hidrotic ectodermal dysplasia. 6 56
11017065 2000
2
A novel connexin 30 mutation in Clouston syndrome. 54 6 61
11874494 2002
3
Hidrotic Ectodermal Dysplasia 2 61 6
20301379 2005
4
Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family. 56 61
10730756 2000
5
Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations. 61 56
9665391 1998
6
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. 61 56
9215774 1997
7
Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17. 61 56
8752831 1996
8
Clouston syndrome: an ectodermal dysplasia without significant dental findings. 61 56
8741874 1996
9
Clouston syndrome: an ultrastructural study. 56 61
6616952 1983
10
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. 56
10854098 2000
11
Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia. 56
10354044 1999
12
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 56
9139825 1997
13
The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. 56
8845850 1996
14
Hidrotic ectodermal dysplasia: study of a large Chinese pedigree. 56
139851 1977
15
Properties of hair keratin in an autosomal dominant form of ectodermal dysplasia. 56
5054225 1972
16
Hydrotic ectodermal dysplasia--Clouston's family revisited. 56
6016585 1967
17
Squamous-cell carcinoma of the nail bed in epidermal dysplasia. 56
5902801 1966
18
Family with Inherited Ectodermal Dystrophy. 56
20323542 1945
19
THE MAJOR FORMS OF HEREDITARY ECTODERMAL DYSPLASIA : (With an Autopsy and Biopsies on the Anhydrotic Type). 56
20321205 1939
20
A Hereditary Ectodermal Dystrophy. 56
20317409 1929
21
Clouston syndrome and eccrine syringofibroadenomas. 61 54
19318801 2009
22
A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. 61 54
15245427 2004
23
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. 61 54
15140211 2004
24
Clouston syndrome can mimic pachyonychia congenita. 61 54
14708603 2003
25
A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice. 61
32553574 2020
26
Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma. 61
32220018 2020
27
Clouston syndrome with dental anomalies, micropores of hair shafts and absence of palmoplantar keratoderma. 61
31960478 2020
28
Pterygium and thinning of nails as an unusual manifestation in Clouston syndrome. 61
30908727 2019
29
Hypohidrotic ectodermal dysplasia with autosomal recessive inheritance pattern: Report of a rare and unusual case with a brief review of literature. 61
31942145 2019
30
Novel clinical features associated with Clouston syndrome. 61
31165482 2019
31
Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype. 61
30983611 2019
32
The connexin 30 A88V mutant reduces cochlear gap junction expression and confers long-term protection against hearing loss. 61
30559251 2019
33
Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts. 61
28871934 2017
34
Do you know this syndrome? Clouston syndrome. 61
29186264 2017
35
Identification of GJB6 gene mutation in an Indian man with Clouston syndrome. 61
27643550 2016
36
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 61
27137747 2016
37
Immune system disturbances in Clouston syndrome. 61
26551294 2016
38
Well-Differentiated Syringofibrocarcinoma in a Patient With Clouston Syndrome. 61
26792110 2016
39
Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes. 61
26810281 2016
40
Clouston Syndrome: 25-year follow-up of a patient. 61
26734875 2015
41
Novel mutations in GJB6 and GJB2 in Clouston syndrome. 61
25808784 2015
42
Pincer nail deformity as the main manifestation of Clouston syndrome. 61
25677863 2015
43
Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics. 61
25575739 2015
44
Clouston syndrome associated with eccrine syringofibroadenoma. 61
24937830 2014
45
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice. 61
24685692 2014
46
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies. 61
24522190 2014
47
Overview of skin diseases linked to connexin gene mutations. 61
23675785 2014
48
Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. 61
23863883 2013
49
GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. 61
23219093 2013
50
Light microscopic hair shaft analysis in ectodermal dysplasia syndromes. 61
22084904 2012

Variations for Clouston Syndrome

ClinVar genetic disease variations for Clouston Syndrome:

6 (show top 50) (show all 63) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)SNV Pathogenic 5544 rs104894415 13:20797589-20797589 13:20223450-20223450
2 GJB6 NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)SNV Pathogenic 5545 rs28937872 13:20797357-20797357 13:20223218-20223218
3 GJB6 NM_001110219.3(GJB6):c.110T>A (p.Val37Glu)SNV Pathogenic 5547 rs104894416 13:20797510-20797510 13:20223371-20223371
4 GJB6 NM_001110219.3(GJB6):c.15G>A (p.Thr5=)SNV Conflicting interpretations of pathogenicity 45501 rs150075979 13:20797605-20797605 13:20223466-20223466
5 GJB6 NM_001110219.3(GJB6):c.489G>A (p.Leu163=)SNV Conflicting interpretations of pathogenicity 45503 rs35002004 13:20797131-20797131 13:20222992-20222992
6 GJB6 NM_001110219.3(GJB6):c.177A>G (p.Gly59=)SNV Conflicting interpretations of pathogenicity 196442 rs371123633 13:20797443-20797443 13:20223304-20223304
7 GJB6 NM_001110219.3(GJB6):c.672A>G (p.Arg224=)SNV Conflicting interpretations of pathogenicity 285401 rs756597598 13:20796948-20796948 13:20222809-20222809
8 GJB6 NM_001110219.3(GJB6):c.60C>T (p.Ile20=)SNV Conflicting interpretations of pathogenicity 311383 rs778513540 13:20797560-20797560 13:20223421-20223421
9 GJB6 NM_001110219.3(GJB6):c.30C>T (p.Ile10=)SNV Conflicting interpretations of pathogenicity 724026 13:20797590-20797590 13:20223451-20223451
10 GJB6 NM_001110219.3(GJB6):c.-295-100C>TSNV Conflicting interpretations of pathogenicity 311392 rs55901410 13:20805046-20805046 13:20230907-20230907
11 GJB6 NM_001110219.3(GJB6):c.-295-129G>ASNV Conflicting interpretations of pathogenicity 311393 rs539881427 13:20805075-20805075 13:20230936-20230936
12 GJB6 NM_001110219.3(GJB6):c.*714C>TSNV Conflicting interpretations of pathogenicity 311373 rs76179836 13:20796120-20796120 13:20221981-20221981
13 GJB6 NM_001110219.3(GJB6):c.-295-210G>ASNV Conflicting interpretations of pathogenicity 311395 rs61058739 13:20805156-20805156 13:20231017-20231017
14 GJB6 NM_001110219.3(GJB6):c.63del (p.Lys22fs)deletion Conflicting interpretations of pathogenicity 311382 rs770612890 13:20797557-20797557 13:20223418-20223418
15 GJB6 NM_001110219.3(GJB6):c.-295-278G>ASNV Conflicting interpretations of pathogenicity 311397 rs573703525 13:20805224-20805224 13:20231085-20231085
16 GJB6 NM_001110219.3(GJB6):c.405G>A (p.Thr135=)SNV Conflicting interpretations of pathogenicity 311381 rs145438428 13:20797215-20797215 13:20223076-20223076
17 GJB6 NM_001110219.3(GJB6):c.-296+269G>ASNV Conflicting interpretations of pathogenicity 311399 rs142230271 13:20805252-20805252 13:20231113-20231113
18 GJB6 NM_001110219.3(GJB6):c.-296+265C>TSNV Uncertain significance 311400 rs886050038 13:20805256-20805256 13:20231117-20231117
19 GJB6 NM_001110219.3(GJB6):c.-296+210C>ASNV Uncertain significance 311401 rs886050039 13:20805311-20805311 13:20231172-20231172
20 GJB6 NM_001110219.3(GJB6):c.-26A>GSNV Uncertain significance 311385 rs886050030 13:20803729-20803729 13:20229590-20229590
21 GJB6 NM_001110219.3(GJB6):c.-149G>ASNV Uncertain significance 311388 rs886050032 13:20803852-20803852 13:20229713-20229713
22 GJB6 NM_001110219.3(GJB6):c.-166A>CSNV Uncertain significance 311389 rs886050033 13:20803869-20803869 13:20229730-20229730
23 GJB6 NM_001110219.3(GJB6):c.-295-192A>GSNV Uncertain significance 311394 rs886050036 13:20805138-20805138 13:20230999-20230999
24 GJB6 NM_001110219.3(GJB6):c.-296+283T>CSNV Uncertain significance 311398 rs886050037 13:20805238-20805238 13:20231099-20231099
25 GJB6 NM_001110219.3(GJB6):c.*628G>TSNV Uncertain significance 311374 rs577545882 13:20796206-20796206 13:20222067-20222067
26 GJB6 NM_001110219.3(GJB6):c.-178C>TSNV Uncertain significance 311390 rs886050034 13:20803881-20803881 13:20229742-20229742
27 GJB6 NM_001110219.3(GJB6):c.-295-99A>CSNV Uncertain significance 311391 rs886050035 13:20805045-20805045 13:20230906-20230906
28 GJB6 NM_001110219.3(GJB6):c.228del (p.Trp77fs)deletion Uncertain significance 837505 13:20797392-20797392 13:20223253-20223253
29 GJB6 NM_001110219.3(GJB6):c.-106G>TSNV Uncertain significance 882819 13:20803809-20803809 13:20229670-20229670
30 GJB6 NM_001110219.3(GJB6):c.393G>A (p.Ser131=)SNV Uncertain significance 881196 13:20797227-20797227 13:20223088-20223088
31 GJB6 NM_001110219.3(GJB6):c.311G>A (p.Arg104His)SNV Uncertain significance 881661 13:20797309-20797309 13:20223170-20223170
32 GJB6 NM_001110219.3(GJB6):c.212T>C (p.Val71Ala)SNV Uncertain significance 881662 13:20797408-20797408 13:20223269-20223269
33 GJB6 NM_001110219.3(GJB6):c.109G>A (p.Val37Met)SNV Uncertain significance 881663 13:20797511-20797511 13:20223372-20223372
34 GJB6 NM_001110219.3(GJB6):c.-33G>ASNV Uncertain significance 882817 13:20803736-20803736 13:20229597-20229597
35 GJB6 NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe)SNV Uncertain significance 426683 rs750540794 13:20797441-20797441 13:20223302-20223302
36 GJB6 NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly)SNV Uncertain significance 536989 rs141752846 13:20796989-20796989 13:20222850-20222850
37 GJB6 NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln)SNV Uncertain significance 663718 13:20797319-20797319 13:20223180-20223180
38 GJB6 NC_000013.10:g.(?_20716100)_(21398980_?)dupduplication Uncertain significance 656832 13:20716100-21398980 13:20141961-20824841
39 GJB6 NM_001110219.3(GJB6):c.*192C>TSNV Uncertain significance 883561 13:20796642-20796642 13:20222503-20222503
40 GJB6 NM_001110219.3(GJB6):c.742A>G (p.Ile248Val)SNV Uncertain significance 883562 13:20796878-20796878 13:20222739-20222739
41 GJB6 NM_001110219.3(GJB6):c.-122T>CSNV Uncertain significance 311387 rs886050031 13:20803825-20803825 13:20229686-20229686
42 GJB6 NM_001110219.3(GJB6):c.680C>T (p.Thr227Met)SNV Uncertain significance 311379 rs199790650 13:20796940-20796940 13:20222801-20222801
43 GJB6 NM_001110219.3(GJB6):c.*559C>TSNV Uncertain significance 311375 rs886050029 13:20796275-20796275 13:20222136-20222136
44 GJB6 NM_001110219.3(GJB6):c.*25C>TSNV Uncertain significance 311378 rs112845420 13:20796809-20796809 13:20222670-20222670
45 GJB6 NM_001110219.3(GJB6):c.666A>G (p.Ser222=)SNV Uncertain significance 311380 rs138571061 13:20796954-20796954 13:20222815-20222815
46 GJB6 NM_001110219.3(GJB6):c.-3G>ASNV Uncertain significance 311384 rs372835743 13:20797622-20797622 13:20223483-20223483
47 GJB6 NM_001110219.3(GJB6):c.619G>A (p.Val207Met)SNV Uncertain significance 45507 rs146231737 13:20797001-20797001 13:20222862-20222862
48 GJB6 NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu)SNV Uncertain significance 179782 rs727505123 13:20797411-20797411 13:20223272-20223272
49 GJB6 NM_001110219.3(GJB6):c.-295-208G>ASNV Likely benign 881242 13:20805154-20805154 13:20231015-20231015
50 GJB6 NM_001110219.3(GJB6):c.-295-227C>TSNV Likely benign 881243 13:20805173-20805173 13:20231034-20231034

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

Expression for Clouston Syndrome

Search GEO for disease gene expression data for Clouston Syndrome.

Pathways for Clouston Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 GJC1 GJB6 GJB4 GJB3 GJB2 GJB1
2
Show member pathways
12.63 TUBA3C GJC1 GJB6 GJB4 GJB3 GJB2
3
Show member pathways
12.14 TUBA3C GJC1 GJB3 GJB2 GJB1 GJA1
4
Show member pathways
11.99 GJC1 GJB6 GJB4 GJB3 GJB2 GJB1
5
Show member pathways
11.16 GJC1 GJB6 GJB4 GJB3 GJB2 GJB1
6
Show member pathways
10.45 GJB2 GJB1 GJA1

GO Terms for Clouston Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.06 NECTIN1 GJC1 GJB6 GJB4 GJB3 GJB2
2 plasma membrane GO:0005886 10 NECTIN1 GJC1 GJB6 GJB4 GJB3 GJB2
3 cell junction GO:0030054 9.76 NECTIN1 GJC1 GJB6 GJB4 GJB3 GJB2
4 connexin complex GO:0005922 9.5 GJC1 GJB6 GJB4 GJB3 GJB2 GJB1
5 cell-cell contact zone GO:0044291 9.4 NECTIN1 GJA1
6 plasma membrane protein complex GO:0098797 9.37 EVC2 EVC
7 gap junction GO:0005921 9.17 GJC1 GJB6 GJB4 GJB3 GJB2 GJB1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.95 GJC1 GJB6 GJB4 GJB3 GJB2 GJB1
2 cell-cell signaling GO:0007267 9.7 GJC1 GJB6 GJB4 GJB3 GJB2 GJB1
3 aging GO:0007568 9.67 TP63 GJB6 GJB2
4 response to lipopolysaccharide GO:0032496 9.65 GJB6 GJB2 GJA1
5 cell communication by electrical coupling GO:0010644 9.54 GJB6 GJB2 GJA1
6 maintenance of permeability of blood-brain barrier GO:0035633 9.51 GJB6 GJA1
7 gap junction-mediated intercellular transport GO:1990349 9.5 GJB6 GJB4 GJB2
8 decidualization GO:0046697 9.46 GJB2 GJA1
9 atrial cardiac muscle cell action potential GO:0086014 9.43 GJC1 GJA1
10 epididymis development GO:1905867 9.43 GJB2 GJB1 GJA1
11 gap junction assembly GO:0016264 9.35 GJC1 GJB6 GJB2 GJB1 GJA1
12 cell communication GO:0007154 9.17 GJC1 GJB6 GJB4 GJB3 GJB2 GJB1

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 9.17 GJC1 GJB6 GJB4 GJB3 GJB2 GJB1
2 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.13 GJB6 GJB2 GJA1

Sources for Clouston Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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