ECTD2
MCID: CLS005
MIFTS: 59

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 57 12 73 20 43 58 72 15
Ectodermal Dysplasia 2, Clouston Type 57 12 43 72 13
Hidrotic Ectodermal Dysplasia 12 58 54 70
Hidrotic Ectodermal Dysplasia Syndrome 12 29 6
Ectd2 57 43 72
Clouston's Hidrotic Ectodermal Dysplasia 12 20
Clouston Hidrotic Ectodermal Dysplasia 57 43
Ectodermal Dysplasia 44 70
Clouston's Syndrome 12 43
Hed2 43 72
Ed2 20 72
Ectodermal Dysplasia, Hidrotic, 2, Formerly; Hed2, Formerly 57
Ectodermal Dysplasia, Hidrotic, Autosomal Dominant 57
Hidrotic Ectodermal Dysplasia, Autosomal Dominant 20
Autosomal Dominant Hidrotic Ectodermal Dysplasia 20
Ectodermal Dysplasia Hidrotic Autosomal Dominant 72
Ectodermal Dysplasia 2, Clouston Type; Ectd2 57
Ectodermal Dysplasia, Hidrotic, 2, Formerly 57
Hidrotic Ectodermal Dysplasia 2 43
Ectodermal Dysplasia 2 Hidrotic 72
Dysplasia, Ectodermal, Hidrotic 39
Ectodermal Dysplasia, Hidrotic 20
Hed2, Formerly 57
Hed 20

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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

MedlinePlus Genetics : 43 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 keratosis, 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 Myometrial Relaxation and Contraction Pathways. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and heart, and related phenotypes are alopecia and irregular hyperpigmentation

GARD : 20 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® : 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 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 651)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate-ectodermal dysplasia syndrome 32.8 TP63 NECTIN1
2 keratosis 30.9 GJB3 GJB2 GJA1
3 chromosome 2q35 duplication syndrome 30.8 TP63 NECTIN1 GJA1
4 limbal stem cell deficiency 30.6 TP63 GJA1
5 nonsyndromic hearing loss and deafness, dfnb1 30.6 GJB6 GJB3 GJB2
6 deafness, autosomal dominant 3b 30.5 GJB6 GJB3 GJB2
7 deafness, autosomal recessive 1b 30.5 GJB6 GJB3 GJB2
8 hypotrichosis 30.4 GJB4 GJB3 GJB2 GJA1
9 nonsyndromic hearing loss and deafness, dfna3 30.3 GJB6 GJB2
10 dfnb1 30.3 TUBA3C GJB6 GJB3 GJB2
11 ainhum 30.3 GJB4 GJB2
12 deafness, autosomal recessive 1a 30.3 GJB6 GJB4 GJB3 GJB2
13 palmoplantar keratosis 30.3 GJB4 GJB3 GJB2 GJA1
14 oculodentodigital dysplasia 30.1 GJC1 GJB6 GJB4 GJB3 GJB2 GJB1
15 keratitis-ichthyosis-deafness syndrome, autosomal dominant 30.1 GJB6 GJB2 GJA1
16 heart septal defect 29.8 GJA5 GJA1 EVC2
17 pseudoainhum 29.5 GJB6 GJB4 GJB3 GJB2 GJA1
18 palmoplantar keratoderma and congenital alopecia 1 29.4 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2
19 atrial heart septal defect 29.4 GJA5 GJA1 EVC2
20 ectodermal dysplasia 29.4 TUBA3C TP63 NECTIN1 GJB6 GJB4 GJB3
21 skin disease 29.3 TP63 GJB6 GJB4 GJB3 GJB2 GJA1
22 tooth agenesis 29.3 TP63 NECTIN1 EVC2
23 erythrokeratoderma 29.1 GJB5 GJB4 GJB3 GJB2 GJA1
24 tetralogy of fallot 29.0 GJC1 GJA5 GJA1 EVC2
25 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 11.8
26 ectodermal dysplasia/skin fragility syndrome 11.8
27 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.7
28 rapp-hodgkin syndrome 11.7
29 ectodermal dysplasia 7, hair/nail type 11.7
30 ectodermal dysplasia 9, hair/nail type 11.7
31 ectodermal dysplasia-syndactyly syndrome 1 11.7
32 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 11.6
33 ectodermal dysplasia 13, hair/tooth type 11.6
34 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 11.6
35 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 11.6
36 ectodermal dysplasia 15, hypohidrotic/hair type 11.6
37 cerebellar ataxia and ectodermal dysplasia 11.6
38 ectodermal dysplasia 6, hair/nail type 11.6
39 congenital heart defects and ectodermal dysplasia 11.6
40 ectodermal dysplasia 5, hair/nail type 11.6
41 ectodermal dysplasia/short stature syndrome 11.6
42 ectodermal dysplasia, hidrotic, christianson-fourie type 11.6
43 schopf-schulz-passarge syndrome 11.6
44 immunodeficiency without anhidrotic ectodermal dysplasia 11.5
45 aredyld 11.5
46 ectodermal dysplasia, trichoodontoonychial type 11.5
47 focal facial dermal dysplasia 3, setleis type 11.5
48 lelis syndrome 11.5
49 arthrogryposis and ectodermal dysplasia 11.5
50 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 11.5

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 44)
# 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 onychogryposis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001805
10 onycholysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001806
11 fragile nails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001808
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 palmoplantar keratoderma 58 31 frequent (33%) Frequent (79-30%) HP:0000982
16 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
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 alopecia totalis 31 HP:0007418
41 palmoplantar hyperkeratosis 31 HP:0000972
42 brittle hair 31 HP:0002299
43 ectodermal dysplasia 31 HP:0000968
44 hyperpigmentation of the skin 31 HP:0000953

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

UMLS symptoms related to Clouston Syndrome:


photophobia

MGI Mouse Phenotypes related to Clouston Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.85 EVC2 GJA1 GJB1 GJB2 GJB3 GJB4
2 mortality/aging MP:0010768 9.65 EVC2 GJA1 GJA5 GJB1 GJB2 GJB3
3 no phenotypic analysis MP:0003012 9.17 GJA1 GJA5 GJB2 GJB3 GJB6 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 Immunoglobulins
2 Antibodies

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 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
5 Survey of X-Linked Hypohidrotic Ectodermal Dysplasia Carrier Women's Outlook Towards Reproduction, Potential XLHED Treatments and Genetic Testing Completed NCT01398813
6 Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
7 Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members Completed NCT01108770
8 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
9 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
10 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
11 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
12 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
13 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia Completed NCT01293565
14 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia (Christ-Siemens-Touraine Syndrome) Completed NCT01135888
15 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
16 Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition Completed NCT01871714
17 Clinical Study of Oral Endosseous Titanium Implants in Edentulous Subjects Completed NCT00001211
18 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 Recruiting NCT04741412
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, Heart, Bone, Brain, Tongue, Bone Marrow

Publications for Clouston Syndrome

Articles related to Clouston Syndrome:

(show top 50) (show all 76)
# Title Authors PMID Year
1
Mutations in GJB6 cause hidrotic ectodermal dysplasia. 6 57
11017065 2000
2
Clouston syndrome can mimic pachyonychia congenita. 61 54 6
14708603 2003
3
A novel connexin 30 mutation in Clouston syndrome. 61 54 6
11874494 2002
4
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. 61 6
27137747 2016
5
Immune system disturbances in Clouston syndrome. 61 6
26551294 2016
6
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice. 6 61
24685692 2014
7
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies. 6 61
24522190 2014
8
Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. 6 61
23863883 2013
9
GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. 6 61
23219093 2013
10
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. 6 61
15213106 2004
11
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. 6 61
12788524 2003
12
Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family. 57 61
10730756 2000
13
Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations. 61 57
9665391 1998
14
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. 57 61
9215774 1997
15
Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17. 61 57
8752831 1996
16
Clouston syndrome: an ectodermal dysplasia without significant dental findings. 61 57
8741874 1996
17
Clouston syndrome: an ultrastructural study. 57 61
6616952 1983
18
[A gene study of a family with hidrotic ectodermal dysplasia]. 6
27817781 2016
19
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants. 6
25262649 2014
20
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia. 6
24514865 2014
21
[Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia]. 6
23926005 2013
22
Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia. 6
23981984 2013
23
G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family. 6
20536673 2010
24
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 6
16950989 2006
25
Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. 6
15769851 2005
26
Functional studies of human skin disease- and deafness-associated connexin 30 mutations. 6
12419304 2002
27
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. 57
10854098 2000
28
Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia. 57
10354044 1999
29
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 57
9139825 1997
30
The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. 57
8845850 1996
31
Hidrotic ectodermal dysplasia: study of a large Chinese pedigree. 57
139851 1977
32
Properties of hair keratin in an autosomal dominant form of ectodermal dysplasia. 57
5054225 1972
33
Hydrotic ectodermal dysplasia--Clouston's family revisited. 57
6016585 1967
34
Squamous-cell carcinoma of the nail bed in epidermal dysplasia. 57
5902801 1966
35
Family with Inherited Ectodermal Dystrophy. 57
20323542 1945
36
THE MAJOR FORMS OF HEREDITARY ECTODERMAL DYSPLASIA : (With an Autopsy and Biopsies on the Anhydrotic Type). 57
20321205 1939
37
A Hereditary Ectodermal Dystrophy. 57
20317409 1929
38
Clouston syndrome and eccrine syringofibroadenomas. 61 54
19318801 2009
39
A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. 61 54
15245427 2004
40
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. 54 61
15140211 2004
41
Clouston Syndrome. 61
33658115 2021
42
Connexin hemichannel inhibition improves skin pathology in Clouston syndrome mice. 61
32629388 2020
43
A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice. 61
32553574 2020
44
Clouston syndrome with pili canaliculi, pili torti, overgrown hyponychium, onycholysis, taurodontism and absence of palmoplantar keratoderma. 61
32220018 2020
45
Clouston syndrome with dental anomalies, micropores of hair shafts and absence of palmoplantar keratoderma. 61
31960478 2020
46
Hypohidrotic ectodermal dysplasia with autosomal recessive inheritance pattern: Report of a rare and unusual case with a brief review of literature. 61
31942145 2019
47
Pterygium and thinning of nails as an unusual manifestation in Clouston syndrome. 61
30908727 2019
48
Novel clinical features associated with Clouston syndrome. 61
31165482 2019
49
Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype. 61
30983611 2019
50
The connexin 30 A88V mutant reduces cochlear gap junction expression and confers long-term protection against hearing loss. 61
30559251 2019

Variations for Clouston Syndrome

ClinVar genetic disease variations for Clouston Syndrome:

6 (show top 50) (show all 75)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
2 GJB6 NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) SNV Pathogenic 5545 rs28937872 GRCh37: 13:20797357-20797357
GRCh38: 13:20223218-20223218
3 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
4 GJB6 NM_001110219.3(GJB6):c.110T>A (p.Val37Glu) SNV Pathogenic 5547 rs104894416 GRCh37: 13:20797510-20797510
GRCh38: 13:20223371-20223371
5 GJB6 NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) SNV Pathogenic 5545 rs28937872 GRCh37: 13:20797357-20797357
GRCh38: 13:20223218-20223218
6 GJB6 NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) SNV Pathogenic 5544 rs104894415 GRCh37: 13:20797589-20797589
GRCh38: 13:20223450-20223450
7 GJB6 NM_001110219.3(GJB6):c.63del (p.Lys22fs) Deletion Likely pathogenic 311382 rs770612890 GRCh37: 13:20797557-20797557
GRCh38: 13:20223418-20223418
8 GJB6 NM_001110219.3(GJB6):c.30C>T (p.Ile10=) SNV Uncertain significance 724026 rs377181573 GRCh37: 13:20797590-20797590
GRCh38: 13:20223451-20223451
9 GJB6 NM_001110219.3(GJB6):c.-33G>A SNV Uncertain significance 882817 GRCh37: 13:20803736-20803736
GRCh38: 13:20229597-20229597
10 GJB6 NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) SNV Uncertain significance 536989 rs141752846 GRCh37: 13:20796989-20796989
GRCh38: 13:20222850-20222850
11 GJB6 NM_001110219.3(GJB6):c.-106G>T SNV Uncertain significance 882819 GRCh37: 13:20803809-20803809
GRCh38: 13:20229670-20229670
12 GJB6 NM_001110219.3(GJB6):c.*192C>T SNV Uncertain significance 883561 GRCh37: 13:20796642-20796642
GRCh38: 13:20222503-20222503
13 GJB6 NM_001110219.3(GJB6):c.742A>G (p.Ile248Val) SNV Uncertain significance 883562 GRCh37: 13:20796878-20796878
GRCh38: 13:20222739-20222739
14 GJB6 NM_001110219.3(GJB6):c.672A>G (p.Arg224=) SNV Uncertain significance 285401 rs756597598 GRCh37: 13:20796948-20796948
GRCh38: 13:20222809-20222809
15 GJB6 NM_001110219.3(GJB6):c.63del (p.Lys22fs) Deletion Uncertain significance 311382 rs770612890 GRCh37: 13:20797557-20797557
GRCh38: 13:20223418-20223418
16 GJB6 NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) SNV Uncertain significance 969013 GRCh37: 13:20797102-20797102
GRCh38: 13:20222963-20222963
17 GJB6 NM_001110219.3(GJB6):c.352A>G (p.Ile118Val) SNV Uncertain significance 1043052 GRCh37: 13:20797268-20797268
GRCh38: 13:20223129-20223129
18 GJB6 NM_001110219.3(GJB6):c.228del (p.Trp77fs) Deletion Uncertain significance 837505 GRCh37: 13:20797392-20797392
GRCh38: 13:20223253-20223253
19 GJB6 NM_001110219.3(GJB6):c.619G>A (p.Val207Met) SNV Uncertain significance 45507 rs146231737 GRCh37: 13:20797001-20797001
GRCh38: 13:20222862-20222862
20 GJB6 NM_001110219.3(GJB6):c.393G>A (p.Ser131=) SNV Uncertain significance 881196 GRCh37: 13:20797227-20797227
GRCh38: 13:20223088-20223088
21 GJB6 NM_001110219.3(GJB6):c.311G>A (p.Arg104His) SNV Uncertain significance 881661 GRCh37: 13:20797309-20797309
GRCh38: 13:20223170-20223170
22 GJB6 NM_001110219.3(GJB6):c.212T>C (p.Val71Ala) SNV Uncertain significance 881662 GRCh37: 13:20797408-20797408
GRCh38: 13:20223269-20223269
23 GJB6 NM_001110219.3(GJB6):c.109G>A (p.Val37Met) SNV Uncertain significance 881663 GRCh37: 13:20797511-20797511
GRCh38: 13:20223372-20223372
24 overlap with 10 genes NC_000013.10:g.(?_20716100)_(21398980_?)dup Duplication Uncertain significance 656832 GRCh37: 13:20716100-21398980
GRCh38: 13:20141961-20824841
25 GJB6 NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) SNV Uncertain significance 663718 rs571454176 GRCh37: 13:20797319-20797319
GRCh38: 13:20223180-20223180
26 GJB6 NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) SNV Uncertain significance 426683 rs750540794 GRCh37: 13:20797441-20797441
GRCh38: 13:20223302-20223302
27 GJB6 NM_001110219.3(GJB6):c.*25C>T SNV Uncertain significance 311378 rs112845420 GRCh37: 13:20796809-20796809
GRCh38: 13:20222670-20222670
28 GJB6 NM_001110219.3(GJB6):c.-166A>C SNV Uncertain significance 311389 rs886050033 GRCh37: 13:20803869-20803869
GRCh38: 13:20229730-20229730
29 GJB6 NM_001110219.3(GJB6):c.-178C>T SNV Uncertain significance 311390 rs886050034 GRCh37: 13:20803881-20803881
GRCh38: 13:20229742-20229742
30 GJB6 NM_001110219.3(GJB6):c.-3G>A SNV Uncertain significance 311384 rs372835743 GRCh37: 13:20797622-20797622
GRCh38: 13:20223483-20223483
31 GJB6 NM_001110219.3(GJB6):c.405G>A (p.Thr135=) SNV Uncertain significance 311381 rs145438428 GRCh37: 13:20797215-20797215
GRCh38: 13:20223076-20223076
32 GJB6 NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu) SNV Uncertain significance 179782 rs727505123 GRCh37: 13:20797411-20797411
GRCh38: 13:20223272-20223272
33 GJB6 NM_001110219.3(GJB6):c.-295-192A>G SNV Uncertain significance 311394 rs886050036 GRCh37: 13:20805138-20805138
GRCh38: 13:20230999-20230999
34 GJB6 NM_001110219.3(GJB6):c.-296+210C>A SNV Uncertain significance 311401 rs886050039 GRCh37: 13:20805311-20805311
GRCh38: 13:20231172-20231172
35 GJB6 NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) SNV Uncertain significance 311379 rs199790650 GRCh37: 13:20796940-20796940
GRCh38: 13:20222801-20222801
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.-296+265C>T SNV Uncertain significance 311400 rs886050038 GRCh37: 13:20805256-20805256
GRCh38: 13:20231117-20231117
40 GJB6 NM_001110219.3(GJB6):c.-26A>G SNV Uncertain significance 311385 rs886050030 GRCh37: 13:20803729-20803729
GRCh38: 13:20229590-20229590
41 GJB6 NM_001110219.3(GJB6):c.-296+283T>C SNV Uncertain significance 311398 rs886050037 GRCh37: 13:20805238-20805238
GRCh38: 13:20231099-20231099
42 GJB6 NM_001110219.3(GJB6):c.666A>G (p.Ser222=) SNV Uncertain significance 311380 rs138571061 GRCh37: 13:20796954-20796954
GRCh38: 13:20222815-20222815
43 GJB6 NM_001110219.3(GJB6):c.*559C>T SNV Uncertain significance 311375 rs886050029 GRCh37: 13:20796275-20796275
GRCh38: 13:20222136-20222136
44 GJB6 NM_001110219.3(GJB6):c.60C>T (p.Ile20=) SNV Uncertain significance 311383 rs778513540 GRCh37: 13:20797560-20797560
GRCh38: 13:20223421-20223421
45 GJB6 NM_001110219.3(GJB6):c.177A>G (p.Gly59=) SNV Uncertain significance 196442 rs371123633 GRCh37: 13:20797443-20797443
GRCh38: 13:20223304-20223304
46 GJB6 NM_001110219.3(GJB6):c.-149G>A SNV Uncertain significance 311388 rs886050032 GRCh37: 13:20803852-20803852
GRCh38: 13:20229713-20229713
47 GJB6 NM_001110219.3(GJB6):c.-295-210G>A SNV Likely benign 311395 rs61058739 GRCh37: 13:20805156-20805156
GRCh38: 13:20231017-20231017
48 GJB6 NM_001110219.3(GJB6):c.-296+269G>A SNV Likely benign 311399 rs142230271 GRCh37: 13:20805252-20805252
GRCh38: 13:20231113-20231113
49 GJB6 NM_001110219.3(GJB6):c.-295-129G>A SNV Likely benign 311393 rs539881427 GRCh37: 13:20805075-20805075
GRCh38: 13:20230936-20230936
50 GJB6 NM_001110219.3(GJB6):c.*714C>T SNV Likely benign 311373 rs76179836 GRCh37: 13:20796120-20796120
GRCh38: 13:20221981-20221981

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

72
# 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

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 10.11 NECTIN1 GJC1 GJB6 GJB5 GJB4 GJB3
2 plasma membrane GO:0005886 10.06 NECTIN1 GJC1 GJB6 GJB5 GJB4 GJB3
3 cell junction GO:0030054 9.85 NECTIN1 GJC1 GJB6 GJB5 GJB4 GJB3
4 connexin complex GO:0005922 9.61 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2
5 intercalated disc GO:0014704 9.43 GJC1 GJA5 GJA1
6 cell-cell contact zone GO:0044291 9.4 NECTIN1 GJA1
7 gap junction GO:0005921 9.28 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.02 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2
2 cell-cell signaling GO:0007267 9.81 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2
3 aging GO:0007568 9.75 TP63 GJB6 GJB2
4 response to lipopolysaccharide GO:0032496 9.74 GJB6 GJB2 GJA1
5 cell communication by electrical coupling GO:0010644 9.62 GJB6 GJB2 GJA5 GJA1
6 positive regulation of vasoconstriction GO:0045907 9.59 GJA5 GJA1
7 maintenance of permeability of blood-brain barrier GO:0035633 9.58 GJB6 GJA1
8 gap junction-mediated intercellular transport GO:1990349 9.58 GJB6 GJB4 GJB2
9 decidualization GO:0046697 9.56 GJB2 GJA1
10 epididymis development GO:1905867 9.56 GJB5 GJB2 GJB1 GJA1
11 positive regulation of blood vessel diameter GO:0097755 9.55 GJA5 GJA1
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.54 GJA5 GJA1
13 atrial cardiac muscle cell action potential GO:0086014 9.52 GJC1 GJA1
14 regulation of cell communication by electrical coupling GO:0010649 9.51 GJA5 GJA1
15 endothelium development GO:0003158 9.49 GJA5 GJA1
16 AV node cell to bundle of His cell communication by electrical coupling GO:0086053 9.48 GJC1 GJA5
17 SA node cell to atrial cardiac muscle cell communication by electrical coupling GO:0086021 9.46 GJC1 GJA5
18 positive regulation of cell communication by chemical coupling GO:0010652 9.43 GJA5 GJA1
19 gap junction assembly GO:0016264 9.43 GJC1 GJB6 GJB2 GJB1 GJA5 GJA1
20 cell communication GO:0007154 9.28 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 connexin binding GO:0071253 9.4 GJA5 GJA1
2 gap junction hemi-channel activity GO:0055077 9.37 GJA5 GJA1
3 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling GO:0086077 9.32 GJC1 GJA5
4 gap junction channel activity GO:0005243 9.28 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2
5 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.26 GJA5 GJA1
6 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling GO:0086020 9.16 GJC1 GJA5
7 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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