MCID: ECT078
MIFTS: 50

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 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
Ectodermal Dysplasia 36 65
Clouston's Syndrome 10 23
Ectd2 23 67
Hed2 23 67
Ed2 45 67
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 65
 
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 65
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 65
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 65
Hidrotic Ectodermal Dysplasia, Autosomal Dominant 45
Autosomal Dominant Hidrotic Ectodermal Dysplasia 45
Ectodermal Dysplasia Hidrotic Autosomal Dominant 67
Clouston Hidrotic Ectodermal Dysplasia 23
Hidrotic Ectodermal Dysplasia Syndrome 10
Ectodermal Dysplasia 2 Hidrotic 67
Hidrotic Ectodermal Dysplasia 2 23
Hed 45

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
ectodermal dysplasia 2, clouston type:
Onset and clinical course: variable expressivity
Inheritance: autosomal dominant inheritance


Classifications:



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
UMLS65 C0162361, C3539920, C3541517 C3887494, C3888065, C0013575, more

Summaries for Ectodermal Dysplasia 2, Clouston Type

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NIH Rare Diseases:45 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 11b, hypohidrotic/hair/tooth type, autosomal recessive, and has symptoms including abnormality of nail color, generalized hyperpigmentation and irregular hyperpigmentation. An important gene associated with Ectodermal Dysplasia 2, Clouston Type is GJB6 (Gap Junction Protein Beta 6), and among its related pathways are Oligomerization of connexins into connexons and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. 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...

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.

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 666)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant34.6EDAR, EDARADD
2ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive34.5EDAR, EDARADD
3ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant34.5EDAR, EDARADD
4hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia34.0EDAR, EDARADD, WNT10A
5ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive33.6EDA, EDAR, EDARADD, HR, WNT10A
6ectodermal dysplasia, hypohidrotic, with immune deficiency12.7
7ectodermal dysplasia 3, witkop type12.6
8ectodermal dysplasia12.6
9ectodermal dysplasia/skin fragility syndrome12.6
10cleft lip/palate-ectodermal dysplasia syndrome12.6
11ectodermal dysplasia 4, hair/nail type12.6
12ectodermal dysplasia 1, hypohidrotic, x-linked12.6
13ectodermal dysplasia, ectrodactyly, and macular dystrophy12.6
14ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency12.6
15ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency12.5
16ectodermal dysplasia 7, hair/nail type12.5
17ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 312.5
18hypohidrotic ectodermal dysplasia autosomal recessive12.5
19ectodermal dysplasia-syndactyly syndrome 112.5
20corneal intraepithelial dyskeratosis and ectodermal dysplasia12.5
21ectodermal dysplasia 9, hair/nail type12.5
22ectodermal dysplasia/short stature syndrome12.5
23ectodermal dysplasia berlin type12.4
24ectodermal dysplasia trichoodontoonychial type12.4
25ectodermal dysplasia 5, hair/nail type12.4
26ectodermal dysplasia 6, hair/nail type12.4
27ectodermal dysplasia 8, hair/tooth/nail type12.4
28arthrogryposis and ectodermal dysplasia12.4
29cerebellar ataxia ectodermal dysplasia12.4
30hidrotic ectodermal dysplasia 212.4
31arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay12.4
32ectodermal dysplasia-syndactyly syndrome 212.3
33congenital ectodermal dysplasia with hearing loss12.3
34ectodermal dysplasia adrenal cyst12.3
35ectodermal dysplasia mental retardation syndactyly12.3
36hypohidrotic ectodermal dysplasia, autosomal12.3
37hypohidrotic ectodermal dysplasia with immunodeficiency12.3
38ectodermal dysplasia alopecia preaxial polydactyly12.3
39ectodermal dysplasia blindness12.3
40ectodermal dysplasia with natal teeth turnpenny type12.3
41ectodermal dysplasia, hidrotic, christianson-fourie type12.3
42ectodermal dysplasia-syndactyly syndrome12.3
43ectodermal dysplasia-cutaneous syndactyly syndrome12.3
44ectodermal dysplasia arthrogryposis diabetes mellitus12.2
45ectodermal dysplasia bartalos type12.2
46ectodermal dysplasia intellectual disability cns malformation12.2
47ectodermal dysplasia margarita type12.2
48ectodermal dysplasia neurosensory deafness12.2
49ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features12.2
50ectrodactyly and ectodermal dysplasia without cleft lip/palate12.2

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

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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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:00053778.7EDARADD, FGF9, GJA1, GJB2, GJB6, HR
2MP:00053828.2EDAR, EDARADD, EVC, EVC2, FGF9, GJA1
3MP:00053718.1EDAR, EDARADD, EVC, EVC2, FGF9, GJA1
4MP:00107717.5EDAR, EDARADD, FGF9, GJA1, GJB2, GJB3
5MP:00053847.3EDAR, EVC, EVC2, FGF9, GJA1, GJB2
6MP:00053786.1EDAR, EDARADD, EVC, EVC2, FGF9, GJA1

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

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8GJA1, GJB2
2
Show member pathways
9.1TUBA1A, TUBA3C, TUBA3D
3
Show member pathways
9.1TUBA1A, TUBA3C, TUBA3D
49.1TUBA1A, TUBA3C, TUBA3D
5
Show member pathways
9.1TUBA1A, TUBA3C, TUBA3D
6
Show member pathways
9.1TUBA1A, TUBA3C, TUBA3D
79.1TUBA1A, TUBA3C, TUBA3D
8
Show member pathways
9.1GJA1, GJB2, GJB3, GJB4, GJB6
9
Show member pathways
9.1GJA1, GJB2, GJB3, GJB4, GJB6
10
Show member pathways
8.2GJA1, GJB2, GJB3, TUBA1A, TUBA3C, TUBA3D
11
Show member pathways
7.7GJA1, GJB2, GJB3, GJB4, GJB6, TUBA1A

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

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:000715410.2GJB2, GJB4, GJB6
2de novo posttranslational protein foldingGO:005108410.0TUBA3C, TUBA3D
3positive regulation of NF-kappaB import into nucleusGO:00423469.8EDA, EDAR
4positive regulation of smoothened signaling pathwayGO:00458809.7EVC, FGF9
5skin developmentGO:00435889.7GJB3, WNT10A
6pigmentationGO:00434739.6EDA, EDAR
7sensory perception of soundGO:00076059.5GJB2, GJB3, GJB6
8microtubule-based processGO:00070179.4TUBA1A, TUBA3C, TUBA3D
9positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.1EDA, EDAR, GJA1
10positive regulation of gene expressionGO:00106287.9EDA, EDAR, FGF9, GJA1, WNT10A

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