MCID: ECT078
MIFTS: 45

Ectodermal Dysplasia 2, Clouston Type malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Ectodermal Dysplasia 2, Clouston Type

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Aliases & Descriptions for Ectodermal Dysplasia 2, Clouston Type:

Name: Ectodermal Dysplasia 2, Clouston Type 51 25 69 12
Clouston Syndrome 51 11 47 25 53 69 13
Hidrotic Ectodermal Dysplasia 11 53 49 67
Clouston's Hidrotic Ectodermal Dysplasia 11 47
Ectodermal Dysplasia, Hidrotic 47 26
Ectodermal Dysplasia 38 67
Clouston's Syndrome 11 25
Ectd2 25 69
Hed2 25 69
Ed2 47 69
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
 
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 67
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 67
Hidrotic Ectodermal Dysplasia, Autosomal Dominant 47
Autosomal Dominant Hidrotic Ectodermal Dysplasia 47
Ectodermal Dysplasia Hidrotic Autosomal Dominant 69
Clouston Hidrotic Ectodermal Dysplasia 25
Hidrotic Ectodermal Dysplasia Syndrome 11
Ectodermal Dysplasia 2 Hidrotic 69
Hidrotic Ectodermal Dysplasia 2 25
Hed 47

Characteristics:

Orphanet epidemiological data:

53
clouston syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

63
ectodermal dysplasia 2, clouston type:
Inheritance: autosomal dominant inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM51 129500
Disease Ontology11 DOID:14693
MeSH38 D004476
Orphanet53 ORPHA189
SNOMED-CT61 54209007
UMLS via Orphanet68 C0162361
ICD10 via Orphanet30 Q82.8
MedGen36 C0162361

Summaries for Ectodermal Dysplasia 2, Clouston Type

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NIH Rare Diseases:47 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. Last updated: 12/9/2015

MalaCards based summary: Ectodermal Dysplasia 2, Clouston Type, also known as clouston syndrome, is related to ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and ectodermal dysplasia, hidrotic, christianson-fourie type, and has symptoms including hypertrichosis, abnormality of the fingernails and alopecia. An important gene associated with Ectodermal Dysplasia 2, Clouston Type is GJB6 (Gap Junction Protein Beta 6), and among its related pathways are Myometrial Relaxation and Contraction Pathways and Gap junction trafficking. Affiliated tissues include skin, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

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.

OMIM:51 The main features of Clouston syndrome are dystrophy of the nails that tend to be hypoplastic and deformed with... (129500) more...

UniProtKB/Swiss-Prot:69 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.

Related Diseases for Ectodermal Dysplasia 2, Clouston Type

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Diseases related to Ectodermal Dysplasia 2, Clouston Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive32.8EDA, EDAR, EDARADD, WNT10A
2ectodermal dysplasia, hidrotic, christianson-fourie type12.1
3hidrotic ectodermal dysplasia 211.3
4nonsyndromic hearing loss and deafness, mitochondrial10.6GJB2, GJB6
5myocardial infarction 210.6GJB2, GJB6
6ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant10.5EDAR, EDARADD
7idh3b-related retinitis pigmentosa10.5EDAR, EDARADD
8ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive10.5EDAR, EDARADD
9noonan syndrome with multiple lentigines10.4GJB2, GJB3, GJB6
10ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.4EDAR, EDARADD
11deafness, autosomal dominant 3a10.4GJB2, GJB3, GJB6
12thumb deformity, alopecia, pigmentation anomaly10.4GJB2, GJB6
13hystrix-like ichthyosis with deafness10.4GJA1, GJB2
14sublingual gland cancer10.4GJB2, GJB3, GJB6
15nonsyndromic hearing loss and deafness, autosomal recessive10.4GJB2, GJB3, GJB6
16non-hypoproteinemic hypertrophic gastropathy10.4GJB2, GJB3, GJB4
17self-healing papular mucinosis10.4GJB2, GJB3, GJB6
18dihydrolipoamide dehydrogenase deficiency10.4GJB2, GJB3, GJB6
19spastic paraplegia 50, autosomal recessive10.4GJB2, GJB3, GJB4
20hyperimmunoglobulin syndrome10.3GJB2, GJB3, GJB6
21pyelitis10.3GJB2, GJB3, GJB6
22autosomal recessive nonsyndromic deafness10.3GJB2, GJB3, GJB6
23continuous spike-wave during slow sleep syndrome10.2GJB2, GJB3, GJB6, TUBA3C
24ectodermal dysplasia10.2
25punctate palmoplantar keratoderma type 210.2GJB2, GJB3, GJB4, GJB6
26troyer syndrome10.2GJA1, GJB2, GJB4, GJB6
27small non-cleaved cell lymphoma10.2GJB2, GJB3, GJB4, GJB6
28localized lichen myxedematosus with mixed features of different subtypes10.2GJA1, GJB2, GJB3, GJB6
29breast fibroadenoma10.2GJA1, GJB2, SLURP1
30syndactyly, type iii10.1GJA1, GJB2, GJB3, GJB4
31walker dyson syndrome10.1EDAR, EDARADD, WNT10A
32primary lateral sclerosis, adult, 110.1EVC, EVC2
33anal fistula10.0ANTXR1, GJA1, HR
34pseudohermaphrodism anorectal anomalies10.0GJA1, GJB2, GJB3, GJB4, GJB6
35erythrokeratodermia variabilis et progressiva10.0GJA1, GJB2, GJB3, GJB4, GJB6
36fetal alcohol syndrome9.9EVC, EVC2, GJA1
37alcoholic psychosis9.9EDA, GJB6
38pertussis9.9EDA, EDAR, EDARADD
39scleroperikeratitis9.9EDA, EDAR, EDARADD
40neuroschistosomiasis9.8ANTXR1, EDA, EDARADD
41prostate adenocarcinoma9.8EDA, GJB6
42tactile epilepsy9.8EDAR, WNT10A
43alopecia9.8
44sensorineural hearing loss9.8
45ainhum9.8
46emery-dreifuss muscular dystrophy, x-linked9.7EDA, EDAR, EDARADD, GJB6
47glioblastoma classical subtype9.7HR, WNT10A
48glycogen storage disease ix9.3EDA, EDAR, EDARADD, WNT10A
49dementia, familial british5.5ANTXR1, EDA, EDAR, EDARADD, EVC, EVC2

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 2, Clouston Type:



Diseases related to ectodermal dysplasia 2, clouston type

Symptoms for Ectodermal Dysplasia 2, Clouston Type

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Symptoms by clinical synopsis from OMIM:

129500

Clinical features from OMIM:

129500

Human phenotypes related to Ectodermal Dysplasia 2, Clouston Type:

 63 53 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertrichosis63 hallmark (90%) HP:0000998
2 abnormality of the fingernails63 hallmark (90%) HP:0001231
3 alopecia63 53 hallmark (90%) Very frequent (99-80%) HP:0001596
4 onycholysis63 53 hallmark (90%) Very frequent (99-80%) HP:0001806
5 irregular hyperpigmentation63 53 hallmark (90%) Very frequent (99-80%) HP:0007400
6 generalized hyperpigmentation63 53 hallmark (90%) Very frequent (99-80%) HP:0007440
7 abnormality of nail color63 53 hallmark (90%) Very frequent (99-80%) HP:0100643
8 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
9 photophobia63 53 typical (50%) Frequent (79-30%) HP:0000613
10 palmoplantar keratoderma63 53 typical (50%) Frequent (79-30%) HP:0000982
11 fine hair63 53 typical (50%) Frequent (79-30%) HP:0002213
12 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
13 aplasia/hypoplasia of the eyebrow63 typical (50%) HP:0100840
14 skin ulcer63 53 typical (50%) Frequent (79-30%) HP:0200042
15 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
16 lacrimation abnormality63 occasional (7.5%) HP:0000632
17 hand polydactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0001161
18 craniofacial hyperostosis63 53 occasional (7.5%) Occasional (29-5%) HP:0004493
19 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
20 cognitive impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0100543
21 clubbing of toes63 53 occasional (7.5%) Occasional (29-5%) HP:0100760
22 abnormality of the teeth63 HP:0000164
23 blepharitis63 HP:0000498
24 conjunctivitis63 HP:0000509
25 sparse and thin eyebrow63 HP:0000535
26 sparse eyelashes63 53 Frequent (79-30%) HP:0000653
27 hyperpigmentation of the skin63 HP:0000953
28 ectodermal dysplasia63 HP:0000968
29 palmoplantar hyperkeratosis63 HP:0000972
30 small nail63 HP:0001792
31 nail dysplasia63 53 Very frequent (99-80%) HP:0002164
32 slow-growing hair63 HP:0002217
33 absent axillary hair63 HP:0002221
34 brittle hair63 HP:0002299
35 absent pubic hair63 HP:0002555
36 nail dystrophy63 HP:0008404
37 sparse eyebrow53 Frequent (79-30%)
38 abnormality of the nasolacrimal system53 Occasional (29-5%)
39 hypotrichosis53 Frequent (79-30%)
40 hyperconvex nail53 Very frequent (99-80%)
41 thick nail53 Very frequent (99-80%)
42 fragile nails53 Very frequent (99-80%)
43 sparse scalp hair53 Very frequent (99-80%)
44 sparse axillary hair53 Very frequent (99-80%)
45 sparse pubic hair53 Very frequent (99-80%)
46 sparse hair53 Frequent (79-30%)

UMLS symptoms related to Ectodermal Dysplasia 2, Clouston Type:


photophobia

Drugs & Therapeutics for Ectodermal Dysplasia 2, Clouston Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ectodermal Dysplasia 2, Clouston Type


Cochrane evidence based reviews: ectodermal dysplasia

Genetic Tests for Ectodermal Dysplasia 2, Clouston Type

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Genetic tests related to Ectodermal Dysplasia 2, Clouston Type:

id Genetic test Affiliating Genes
1 Hidrotic Ectodermal Dysplasia Syndrome26
2 Hidrotic Ectodermal Dysplasia26

Anatomical Context for Ectodermal Dysplasia 2, Clouston Type

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MalaCards organs/tissues related to Ectodermal Dysplasia 2, Clouston Type:

35
Skin

Animal Models for Ectodermal Dysplasia 2, Clouston Type or affiliated genes

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MGI Mouse Phenotypes related to Ectodermal Dysplasia 2, Clouston Type:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5EDARADD, FGF9, GJA1, GJB2, GJB6, HR
2MP:00053828.5ANTXR1, EDAR, EDARADD, EVC, EVC2, FGF9
3MP:00053848.1ANTXR1, EDAR, EVC, EVC2, FGF9, GJA1
4MP:00107717.9EDAR, EDARADD, FGF9, GJA1, GJB2, GJB3
5MP:00053717.7EDAR, EDARADD, EVC, EVC2, FGF9, GJA1
6MP:00053787.2ANTXR1, EDAR, EDARADD, EVC, EVC2, FGF9

Publications for Ectodermal Dysplasia 2, Clouston Type

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Variations for Ectodermal Dysplasia 2, Clouston Type

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UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 2, Clouston Type:

69
id Symbol AA change Variation ID SNP ID
1GJB6p.Gly11ArgVAR_015696rs104894415
2GJB6p.Ala88ValVAR_015697rs28937872
3GJB6p.Val37GluVAR_016838rs104894416

Clinvar genetic disease variations for Ectodermal Dysplasia 2, Clouston Type:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GJB6NM_006783.4(GJB6): c.63delG (p.Lys22Argfs)deletionLikely pathogenicrs770612890GRCh38Chr 13, 20223418: 20223418
2EDARADDNM_080738.3(EDARADD): c.424G> A (p.Glu142Lys)SNVPathogenicrs74315309GRCh37Chr 1, 236645755: 236645755
3EDARADDNM_080738.3(EDARADD): c.335T> G (p.Leu112Arg)SNVPathogenicrs121908116GRCh37Chr 1, 236645666: 236645666
4GJB6NM_006783.4(GJB6): c.31G> A (p.Gly11Arg)SNVPathogenicrs104894415GRCh37Chr 13, 20797589: 20797589
5GJB6NM_006783.4(GJB6): c.263C> T (p.Ala88Val)SNVPathogenicrs28937872GRCh37Chr 13, 20797357: 20797357
6GJB6NM_006783.4(GJB6): c.110T> A (p.Val37Glu)SNVPathogenicrs104894416GRCh37Chr 13, 20797510: 20797510

Expression for genes affiliated with Ectodermal Dysplasia 2, Clouston Type

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Search GEO for disease gene expression data for Ectodermal Dysplasia 2, Clouston Type.

Pathways for genes affiliated with Ectodermal Dysplasia 2, Clouston Type

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GO Terms for genes affiliated with Ectodermal Dysplasia 2, Clouston Type

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Cellular components related to Ectodermal Dysplasia 2, Clouston Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1connexin complexGO:00059229.5GJA1, GJB2, GJB3, GJB4, GJB6
2gap junctionGO:00059219.5GJA1, GJB2, GJB3, GJB6

Biological processes related to Ectodermal Dysplasia 2, Clouston Type according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1gap junction assemblyGO:001626410.3GJA1, GJB2
2positive regulation of smoothened signaling pathwayGO:004588010.0EVC, FGF9
3salivary gland cavitationGO:006066210.0EDA, EDAR
4positive regulation of NF-kappaB import into nucleusGO:00423469.8EDA, EDAR
5sensory perception of soundGO:00076059.8GJB2, GJB3, GJB6
6tumor necrosis factor-mediated signaling pathwayGO:00332099.6EDA, EDAR, EDARADD
7cell communicationGO:00071549.5GJA1, GJB3, GJB4, GJB6
8positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.3EDA, EDAR, GJA1
9skin developmentGO:00435889.0EDA, GJB3, WNT10A
10positive regulation of gene expressionGO:00106288.0EDA, EDAR, FGF9, GJA1, WNT10A

Molecular functions related to Ectodermal Dysplasia 2, Clouston Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052439.7GJA1, GJB2, GJB3

Sources for Ectodermal Dysplasia 2, Clouston Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet