MCID: ECT078
MIFTS: 49

Ectodermal Dysplasia 2, Clouston Type malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Ectodermal Dysplasia 2, Clouston Type

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Sources:
49OMIM, 11diseasecard, 23Genetics Home Reference, 67UniProtKB/Swiss-Prot, 36MeSH, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 47Novoseek, 65UMLS, 24GTR, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Ectodermal Dysplasia 2, Clouston Type:

Name: Ectodermal Dysplasia 2, Clouston Type 49 11 23 67
Clouston Syndrome 10 45 23 12 51 67
Hidrotic Ectodermal Dysplasia 10 47 51 65
Clouston's Hidrotic Ectodermal Dysplasia 10 45
Ectodermal Dysplasia, Hidrotic 45 24
Clouston's Syndrome 10 23
Ectd2 23 67
Hed2 23 67
Ed2 45 67
 
Hidrotic Ectodermal Dysplasia, Autosomal Dominant 45
Ectodermal Dysplasia Hidrotic Autosomal Dominant 67
Autosomal Dominant Hidrotic Ectodermal Dysplasia 45
Hidrotic Ectodermal Dysplasia Syndrome 10
Clouston Hidrotic Ectodermal Dysplasia 23
Hidrotic Ectodermal Dysplasia 2 23
Ectodermal Dysplasia 2 Hidrotic 67
Ectodermal Dysplasia 36
Hed 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
clouston syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM49 129500
Disease Ontology10 DOID:14693
MeSH36 D004476
Orphanet51 189
SNOMED-CT59 54209007
ICD10 via Orphanet28 Q82.8
UMLS via Orphanet66 C0162361
MedGen34 C0162361

Summaries for Ectodermal Dysplasia 2, Clouston Type

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UniProtKB/Swiss-Prot:67 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.

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, 30kDa), and among its related pathways are Oligomerization of connexins into connexons and Gap junction trafficking. Affiliated tissues include skin, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Genetics Home Reference:23 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:49 The main features of Clouston syndrome are dystrophy of the nails that tend to be hypoplastic and deformed with... (129500) more...

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 329)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant31.5EDAR, EDARADD
2ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant31.3EDAR, EDARADD
3ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive31.3EDAR, EDARADD
4hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia31.1EDAR, EDARADD, WNT10A
5ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive31.1EDA, EDAR, EDARADD, HR, WNT10A
6syndactyly30.9EDA, EDAR, EDARADD
7keratitis-ichthyosis-deafness syndrome30.8GJA1, GJB2
8anhidrosis30.4EDA, EDAR, EDARADD
9oculodentodigital dysplasia30.2GJA1, GJB2, GJB3, GJB4
10ectodermal dysplasia11.5
11eec syndrome10.8
12ectodermal dysplasia, hypohidrotic, with immune deficiency10.8
13anodontia10.8
14ectodermal dysplasia 1, hypohidrotic, x-linked10.8
15cleft lip10.8
16ectodermal dysplasia/skin fragility syndrome10.8
17rapp-hodgkin syndrome10.7
18ectodermal dysplasia, ectrodactyly, and macular dystrophy10.7
19arthrogryposis and ectodermal dysplasia10.6
20cleft lip/palate-ectodermal dysplasia syndrome10.6
21ectodermal dysplasia 4, hair/nail type10.6
22ectodermal dysplasia 3, witkop type10.6
23ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.6
24ectodermal dysplasia 7, hair/nail type10.6
25skin conditions10.6
26skin disease10.6
27x-linked disease10.6
28hidrotic ectodermal dysplasia 210.6
29arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.6
30ectodermal dysplasia 9, hair/nail type10.6
31ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency10.6
32hypohidrotic ectodermal dysplasia autosomal recessive10.6
33focal facial dermal dysplasia 3, setleis type10.5
34ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency10.5
35immunodeficiency, isolated10.5
36ectodermal dysplasia-syndactyly syndrome 110.5
37hypotrichosis10.5
38cerebellar ataxia ectodermal dysplasia10.5
39congenital ectodermal dysplasia with hearing loss10.5
40ectodermal dysplasia - syndactyly syndrome10.5
41ectodermal dysplasia 5, hair/nail type10.5
42corneal intraepithelial dyskeratosis and ectodermal dysplasia10.5
43ectodermal dysplasia 6, hair/nail type10.5
44hay-wells syndrome10.5
45aredyld10.5
46ectrodactyly and ectodermal dysplasia without cleft lip/palate10.5
47ellis-van creveld syndrome10.4
48ectodermal dysplasia-syndactyly syndrome 210.4
49ectodermal dysplasia/short stature syndrome10.4
50ectodermal dysplasia 8, hair/tooth/nail type10.4

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:

 51 (show all 26)
  • hairy patch
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • irregular/in bands/reticular skin hyperpigmentation
  • decreased body hair/axillar/pubic hairlessness
  • alopecia
  • thin/hypoplastic/hyperconvex fingernails
  • dysplastic/thick/grooved fingernails
  • abnormal nails colour/leukonychia/melanonychia
  • onycholysis
  • autosomal dominant inheritance
  • cataract/lens opacification
  • photophobia
  • absent/decreased/thin eyebrows
  • anomalies of eyelids, eyelashes and lacrimal system
  • palmoplantar hyperkeratosis/keratoderma
  • chronic skin infection/ulcerations/ulcers/cancrum
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • fine hair
  • short stature/dwarfism/nanism
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • strabismus/squint
  • defect/anomaly of lacrimal system
  • syndactyly of fingers/interdigital palm
  • upper limb polydactyly/hexadactyly
  • terminal broadening/clubbing of toes
  • intellectual deficit/mental/psychomotor retardation/learning disability

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

(show all 45)
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 autosomal dominant inheritance HP:0000006
23 abnormality of the teeth HP:0000164
24 strabismus HP:0000486
25 blepharitis HP:0000498
26 conjunctivitis HP:0000509
27 cataract HP:0000518
28 sparse eyebrow HP:0000535
29 photophobia HP:0000613
30 sparse eyelashes HP:0000653
31 hyperpigmentation of the skin HP:0000953
32 ectodermal dysplasia HP:0000968
33 palmoplantar hyperkeratosis HP:0000972
34 alopecia HP:0001596
35 small nail HP:0001792
36 onycholysis HP:0001806
37 nail dysplasia HP:0002164
38 fine hair HP:0002213
39 slow-growing hair HP:0002217
40 absent axillary hair HP:0002221
41 brittle hair HP:0002299
42 absent pubic hair HP:0002555
43 variable expressivity HP:0003828
44 short stature HP:0004322
45 nail dystrophy HP:0008404

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 Syndrome24

Anatomical Context for Ectodermal Dysplasia 2, Clouston Type

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

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9EDARADD, FGF9, GJA1, GJB2, GJB6, HR
2MP:00053827.6EDA, EDAR, EDARADD, EVC, EVC2, FGF9
3MP:00053717.5EDA, EDAR, EDARADD, EVC, EVC2, FGF9
4MP:00107717.4EDA, EDAR, EDARADD, FGF9, GJA1, GJB2

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:

67
id Symbol AA change Variation ID SNP ID
1GJB6p.Gly11ArgVAR_015696
2GJB6p.Ala88ValVAR_015697rs28937872
3GJB6p.Val37GluVAR_016838

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.31G> A (p.Gly11Arg)single nucleotide variantPathogenicrs104894415GRCh37Chr 13, 20797589: 20797589
2GJB6NM_006783.4(GJB6): c.263C> T (p.Ala88Val)single nucleotide variantPathogenicrs28937872GRCh37Chr 13, 20797357: 20797357
3GJB6NM_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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Pathways related to Ectodermal Dysplasia 2, Clouston Type according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9GJA1, GJB2
2
Show member pathways
9.2GJA1, GJB2, GJB3, GJB4, GJB6
3
Show member pathways
9.2GJA1, GJB2, GJB3, GJB4, GJB6
4
Show member pathways
9.2GJA1, GJB2, GJB3, GJB4, GJB6
5
Show member pathways
9.1TUBA1A, TUBA3C, TUBA3D
6
Show member pathways
9.1TUBA1A, TUBA3C, TUBA3D
7
Show member pathways
9.1TUBA1A, TUBA3C, TUBA3D
89.1TUBA1A, TUBA3C, TUBA3D
9
Show member pathways
8.3GJA1, GJB2, GJB3, TUBA1A, TUBA3C, TUBA3D
10
Show member pathways
7.9GJA1, GJB2, GJB3, GJB4, GJB6, TUBA1A

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
2connexon complexGO:00059229.4GJA1, GJB2, GJB3, GJB4, GJB6

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1gap junction assemblyGO:001626410.5GJA1, GJB2
2positive regulation of smoothened signaling pathwayGO:004588010.3EVC, FGF9
3salivary gland cavitationGO:006066210.0EDA, EDAR
4trachea gland developmentGO:006115310.0EDA, EDARADD
5positive regulation of NF-kappaB import into nucleusGO:00423469.8EDA, EDAR
6cell communicationGO:00071549.6GJA1, GJB2, GJB3, GJB4, GJB6
7microtubule-based processGO:00070179.6TUBA1A, TUBA3C, TUBA3D
8sensory perception of soundGO:00076059.5GJB2, GJB3, GJB6
9de novo posttranslational protein foldingGO:00510849.5TUBA1A, TUBA3C, TUBA3D
10protein polymerizationGO:00512589.5TUBA1A, TUBA3C, TUBA3D
11tumor necrosis factor-mediated signaling pathwayGO:00332099.4EDA, EDAR, EDARADD
12odontogenesis of dentin-containing toothGO:00424759.3EDA, EDAR, EDARADD
13skin developmentGO:00435889.0EDA, GJB3, WNT10A
14hair follicle developmentGO:00019428.7EDA, EDAR, EDARADD, WNT10A

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:000524310.0GJA1, GJB2, GJB3
2structural constituent of cytoskeletonGO:00052009.1TUBA1A, TUBA3C, TUBA3D

Sources for Ectodermal Dysplasia 2, Clouston Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet