MCID: ECT078
MIFTS: 31

Ectodermal Dysplasia 2, Clouston Type malady

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

Summaries for Ectodermal Dysplasia 2, Clouston Type

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OMIM:45 The main features of Clouston syndrome are dystrophy of the nails that tend to be hypoplastic and deformed with... (129500) more...

MalaCards based summary: Ectodermal Dysplasia 2, Clouston Type, also known as clouston syndrome, is related to ectodermal dysplasia 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, 30kDa). Affiliated tissues include skin.

Genetics Home Reference:21 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.

Aliases & Classifications for Ectodermal Dysplasia 2, Clouston Type

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Sources:
45OMIM, 10diseasecard, 21Genetics Home Reference, 9Disease Ontology, 11DISEASES, 47Orphanet, 43Novoseek, 60UMLS, 22GTR, 55SNOMED-CT, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Ectodermal Dysplasia 2, Clouston Type, Aliases & Descriptions:

Name: Ectodermal Dysplasia 2, Clouston Type 45 10 21
Clouston Syndrome 45 9 21 11 47
Hidrotic Ectodermal Dysplasia 9 43 47 60
Clouston's Syndrome 9 21
Clouston's Hidrotic Ectodermal Dysplasia 9
Clouston Hidrotic Ectodermal Dysplasia 21
 
Hidrotic Ectodermal Dysplasia Syndrome 9
Hidrotic Ectodermal Dysplasia 2 21
Ectodermal Dysplasia, Hidrotic 22
Ectd2 21
Hed2 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

47
clouston syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM45 129500
Disease Ontology9 DOID:14693
MeSH33 D004476
SNOMED-CT55 54209007
Orphanet47 189
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet61 C0162361

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 14)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia10.6
2ectodermal dysplasia, hidrotic, christianson-fourie type10.5
3halal setton wang syndrome10.5
4hidrotic ectodermal dysplasia 210.4
5keratitis10.3
6hypotrichosis10.3
7congenital ectodermal dysplasia with hearing loss10.3
8ectodermal dysplasia neurosensory deafness10.3
9pili torti10.3
10alopecia10.1
11sensorineural hearing loss10.1
12ainhum10.1
13pachyonychia congenita10.1
14melanoma10.1

Graphical network of 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:

 47 (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 palmoplantar hyperkeratosis HP:0000972
33 alopecia HP:0001596
34 abnormality of the foot HP:0001760
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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Drug clinical trials:

Search ClinicalTrials for Ectodermal Dysplasia 2, Clouston Type

Search NIH Clinical Center for Ectodermal Dysplasia 2, Clouston Type

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 Syndrome22

Anatomical Context for Ectodermal Dysplasia 2, Clouston Type

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

31
Skin

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

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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:

62
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:

6
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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Compounds 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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Products for genes affiliated with Ectodermal Dysplasia 2, Clouston Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ectodermal Dysplasia 2, Clouston Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet