MCID: ECT078
MIFTS: 46

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 50 24 68 12
Clouston Syndrome 50 11 46 24 13 52 68
Hidrotic Ectodermal Dysplasia 11 52 48 66
Clouston's Hidrotic Ectodermal Dysplasia 11 46
Ectodermal Dysplasia, Hidrotic 46 25
Clouston's Syndrome 11 24
Ectd2 24 68
Hed2 24 68
Ed2 46 68
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 66
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 66
 
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 66
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 66
Hidrotic Ectodermal Dysplasia, Autosomal Dominant 46
Ectodermal Dysplasia Hidrotic Autosomal Dominant 68
Autosomal Dominant Hidrotic Ectodermal Dysplasia 46
Hidrotic Ectodermal Dysplasia Syndrome 11
Clouston Hidrotic Ectodermal Dysplasia 24
Ectodermal Dysplasia 2 Hidrotic 68
Hidrotic Ectodermal Dysplasia 2 24
Ectodermal Dysplasia 37
Hed 46

Characteristics:

Orphanet epidemiological data:

52
clouston syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
ectodermal dysplasia 2, clouston type:
Inheritance: autosomal dominant inheritance
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 129500
Disease Ontology11 DOID:14693
MeSH37 D004476
Orphanet52 ORPHA189
SNOMED-CT60 54209007
ICD10 via Orphanet29 Q82.8
UMLS via Orphanet67 C0162361
MedGen35 C0162361

Summaries for Ectodermal Dysplasia 2, Clouston Type

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NIH Rare Diseases:46 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 10a, hypohidrotic/hair/nail type, autosomal dominant and ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant, 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 Transport of connexins along the secretory pathway and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include skin, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Genetics Home Reference:24 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:50 The main features of Clouston syndrome are dystrophy of the nails that tend to be hypoplastic and deformed with... (129500) more...

UniProtKB/Swiss-Prot:68 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 top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant32.3EDAR, EDARADD
2ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant32.2EDAR, EDARADD
3ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive32.1EDAR, EDARADD
4ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive31.6EDA, EDAR, EDARADD, WNT10A
5ectodermal dysplasia, hidrotic, christianson-fourie type12.2
6ectodermal dysplasia, hypohidrotic, with immune deficiency11.4
7hidrotic ectodermal dysplasia 211.4
8ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency10.8
9hypohidrotic ectodermal dysplasia autosomal recessive10.8
10hypohidrotic ectodermal dysplasia with immunodeficiency10.8
11nonsyndromic hearing loss and deafness, mitochondrial10.7GJB2, GJB6
12myocardial infarction 210.7GJB2, GJB6
13idh3b-related retinitis pigmentosa10.6EDAR, EDARADD
14noonan syndrome with multiple lentigines10.5GJB2, GJB3, GJB6
15deafness, autosomal dominant 3a10.5GJB2, GJB3, GJB6
16hystrix-like ichthyosis with deafness10.5GJA1, GJB2
17sublingual gland cancer10.5GJB2, GJB3, GJB6
18non-hypoproteinemic hypertrophic gastropathy10.5GJB2, GJB3, GJB4
19nonsyndromic hearing loss and deafness, autosomal recessive10.5GJB2, GJB3, GJB6
20thumb deformity, alopecia, pigmentation anomaly10.5GJB2, GJB6
21self-healing papular mucinosis10.5GJB2, GJB3, GJB6
22spastic paraplegia 50, autosomal recessive10.5GJB2, GJB3, GJB4
23dihydrolipoamide dehydrogenase deficiency10.5GJB2, GJB3, GJB6
24ectodermal dysplasia 2, clouston type10.5GJB2, GJB6
25hyperimmunoglobulin syndrome10.4GJB2, GJB3, GJB6
26pyelitis10.4GJB2, GJB3, GJB6
27autosomal recessive nonsyndromic deafness10.4GJB2, GJB3, GJB6
28ectodermal dysplasia10.3
29punctate palmoplantar keratoderma type 210.3GJB2, GJB3, GJB4, GJB6
30troyer syndrome10.3GJA1, GJB2, GJB4, GJB6
31small non-cleaved cell lymphoma10.3GJB2, GJB3, GJB4, GJB6
32breast fibroadenoma10.2GJA1, GJB2, SLURP1
33localized lichen myxedematosus with mixed features of different subtypes10.2GJA1, GJB2, GJB3, GJB6
34syndactyly, type iii10.2GJA1, GJB2, GJB3, GJB4
35primary lateral sclerosis, adult, 110.2EVC, EVC2
36walker dyson syndrome10.2EDAR, EDARADD, WNT10A
37fetal alcohol syndrome10.1EVC, EVC2, GJA1
38anal fistula10.1ANTXR1, GJA1, HR
39pertussis10.1EDA, EDAR, EDARADD
40glioblastoma classical subtype10.1HR, WNT10A
41scleroperikeratitis10.1EDA, EDAR, EDARADD
42neuroschistosomiasis10.1ANTXR1, EDA, EDARADD
43pseudohermaphrodism anorectal anomalies10.1GJA1, GJB2, GJB3, GJB4, GJB6
44erythrokeratodermia variabilis et progressiva10.0GJA1, GJB2, GJB3, GJB4, GJB6
45alcoholic psychosis10.0EDA, GJB6
46prostate adenocarcinoma9.9EDA, GJB6
47emery-dreifuss muscular dystrophy, x-linked9.9EDA, EDAR, EDARADD, GJB6
48alopecia9.9
49pachyonychia congenita9.9
50sensorineural hearing loss9.9

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

Symptoms:

 52 (show all 29)
  • strabismus
  • cataract
  • sparse eyebrow
  • photophobia
  • abnormality of the nasolacrimal system
  • sparse eyelashes
  • palmoplantar keratoderma
  • hypotrichosis
  • hand polydactyly
  • alopecia
  • hyperconvex nail
  • thick nail
  • onycholysis
  • fragile nails
  • nail dysplasia
  • sparse scalp hair
  • fine hair
  • sparse axillary hair
  • sparse pubic hair
  • short stature
  • craniofacial hyperostosis
  • finger syndactyly
  • irregular hyperpigmentation
  • generalized hyperpigmentation
  • sparse hair
  • cognitive impairment
  • abnormality of nail color
  • clubbing of toes
  • skin ulcer

HPO human phenotypes related to Ectodermal Dysplasia 2, Clouston Type:

(show all 43)
id Description Frequency HPO Source Accession
1 hypertrichosis hallmark (90%) HP:0000998
2 abnormality of the fingernails hallmark (90%) HP:0001231
3 alopecia hallmark (90%) HP:0001596
4 onycholysis hallmark (90%) HP:0001806
5 irregular hyperpigmentation hallmark (90%) HP:0007400
6 generalized hyperpigmentation hallmark (90%) HP:0007440
7 abnormality of nail color hallmark (90%) HP:0100643
8 cataract typical (50%) HP:0000518
9 photophobia typical (50%) HP:0000613
10 palmoplantar keratoderma typical (50%) HP:0000982
11 fine hair typical (50%) HP:0002213
12 short stature typical (50%) HP:0004322
13 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
14 skin ulcer typical (50%) HP:0200042
15 strabismus occasional (7.5%) HP:0000486
16 lacrimation abnormality occasional (7.5%) HP:0000632
17 hand polydactyly occasional (7.5%) HP:0001161
18 craniofacial hyperostosis occasional (7.5%) HP:0004493
19 finger syndactyly occasional (7.5%) HP:0006101
20 cognitive impairment occasional (7.5%) HP:0100543
21 clubbing of toes occasional (7.5%) HP:0100760
22 abnormality of the teeth HP:0000164
23 strabismus HP:0000486
24 blepharitis HP:0000498
25 conjunctivitis HP:0000509
26 cataract HP:0000518
27 sparse and thin eyebrow HP:0000535
28 photophobia HP:0000613
29 sparse eyelashes HP:0000653
30 hyperpigmentation of the skin HP:0000953
31 ectodermal dysplasia HP:0000968
32 palmoplantar hyperkeratosis HP:0000972
33 alopecia HP:0001596
34 small nail HP:0001792
35 onycholysis HP:0001806
36 nail dysplasia HP:0002164
37 fine hair HP:0002213
38 slow-growing hair HP:0002217
39 absent axillary hair HP:0002221
40 brittle hair HP:0002299
41 absent pubic hair HP:0002555
42 short stature HP:0004322
43 nail dystrophy HP:0008404

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 Syndrome25
2 Hidrotic Ectodermal Dysplasia25

Anatomical Context for Ectodermal Dysplasia 2, Clouston Type

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2EDARADD, FGF9, GJA1, GJB2, GJB6, HR
2MP:00053828.1ANTXR1, EDAR, EDARADD, EVC, EVC2, FGF9
3MP:00053717.9EDAR, EDARADD, EVC, EVC2, FGF9, GJA1
4MP:00107717.7EDAR, EDARADD, FGF9, GJA1, GJB2, GJB3
5MP:00053847.6ANTXR1, EDAR, EVC, EVC2, FGF9, GJA1
6MP:00053786.5ANTXR1, 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:

68
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
1EDARADDNM_080738.3(EDARADD): c.335T> G (p.Leu112Arg)single nucleotide variantPathogenicrs121908116GRCh37Chr 1, 236645666: 236645666
2GJB6NM_006783.4(GJB6): c.31G> A (p.Gly11Arg)single nucleotide variantPathogenicrs104894415GRCh37Chr 13, 20797589: 20797589
3GJB6NM_006783.4(GJB6): c.263C> T (p.Ala88Val)single nucleotide variantPathogenicrs28937872GRCh37Chr 13, 20797357: 20797357
4GJB6NM_006783.4(GJB6): c.110T> A (p.Val37Glu)single nucleotide variantPathogenicrs104894416GRCh37Chr 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
1gap junctionGO:00059219.5GJA1, GJB2, GJB3, GJB6
2connexin complexGO:00059229.5GJA1, GJB2, GJB3, GJB4, 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
2salivary gland cavitationGO:006066210.2EDA, EDAR
3positive regulation of NF-kappaB import into nucleusGO:004234610.1EDA, EDAR
4positive regulation of smoothened signaling pathwayGO:00458809.9EVC, FGF9
5cell communicationGO:00071549.9GJA1, GJB3, GJB4, GJB6
6sensory perception of soundGO:00076059.8GJB2, GJB3, GJB6
7tumor necrosis factor-mediated signaling pathwayGO:00332099.8EDA, EDAR, EDARADD
8positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.6EDA, EDAR, GJA1
9skin developmentGO:00435889.3EDA, GJB3, WNT10A
10positive regulation of gene expressionGO:00106288.3EDA, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet