ECTD2
MCID: ECT078
MIFTS: 45

Ectodermal Dysplasia 2, Clouston Type (ECTD2) 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 52 25 70 12
Clouston Syndrome 52 11 48 25 54 70 13
Hidrotic Ectodermal Dysplasia 11 54 50 68
Clouston's Hidrotic Ectodermal Dysplasia 11 48
Ectodermal Dysplasia, Hidrotic 48 27
Ectodermal Dysplasia 39 68
Clouston's Syndrome 11 25
Ectd2 25 70
Hed2 25 70
 
Ed2 48 70
Hidrotic Ectodermal Dysplasia, Autosomal Dominant 48
Ectodermal Dysplasia Hidrotic Autosomal Dominant 70
Autosomal Dominant Hidrotic Ectodermal Dysplasia 48
Hidrotic Ectodermal Dysplasia Syndrome 11
Clouston Hidrotic Ectodermal Dysplasia 25
Ectodermal Dysplasia 2 Hidrotic 70
Hidrotic Ectodermal Dysplasia 2 25
Hed 48

Characteristics:

Orphanet epidemiological data:

54
clouston syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

64
ectodermal dysplasia 2, clouston type:
Inheritance: autosomal dominant inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 129500
Disease Ontology11 DOID:14693
MeSH39 D004476
Orphanet54 ORPHA189
SNOMED-CT62 54209007
UMLS via Orphanet69 C0162361
ICD10 via Orphanet31 Q82.8
MedGen37 C0162361

Summaries for Ectodermal Dysplasia 2, Clouston Type

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NIH Rare Diseases:48 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 photophobia, photophobia and Array. 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 TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions. Affiliated tissues include skin, and related mouse phenotypes are hearing/vestibular/ear and cardiovascular system.

UniProtKB/Swiss-Prot:70 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.

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:52 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 55)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive34.1EDAR, EDARADD
2ectodermal dysplasia, hidrotic, christianson-fourie type12.1
3hidrotic ectodermal dysplasia 211.3
4dnase1-related susceptibility to systemic lupus erythematosus10.3GJB2, GJB6
5down syndrome-related congenital heart disease10.3GJB2, GJB6
6spastic ataxia, charlevoix-saguenay type10.3GJB2, GJB6
7pik3ca-related segmental overgrowth10.3GJB2, GJB6
8bietti crystalline corneoretinal dystrophy10.3GJB2, GJB6
9cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.3GJA1, GJB2
10prostate cancer10.3EDAR, EDARADD
11ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant10.3EDAR, EDARADD
12pink1 type of young-onset parkinson disease10.3GJB2, GJB3, GJB6
13keratoderma, palmoplantar, with deafness10.3GJB2, GJB3, GJB6
14hereditary thrombocytosis with transverse limb defect10.3GJB2, GJB3, GJB4
15molluscum contagiosum10.3GJB2, GJB3, GJB6
16ehlers-danlos syndrome, type viib10.2GJB2, GJB3, GJB4
17ectodermal dysplasia10.2
18hypoplastic left heart syndrome 110.2GJA1, GJB2, GJB4
19erythrocytosis due to bisphosphoglycerate mutase deficiency10.2GJB2, GJB3, GJB6
20congenital herpes simplex10.2GJB2, GJB6
21cockayne syndrome10.2GJB2, GJB3, GJB6
22narcissistic personality disorder10.2GJB2, GJB3, GJB6
23obesity susceptibility, adrb3-related10.2GJB2, GJB3, GJB6
24die smulders droog van dijk syndrome10.2GJB2, GJB3, GJB6, TUBA3C
25telangiectasia macularis eruptiva perstans10.2GJB2, GJB3, GJB6
26klumpke paralysis10.2GJB2, GJB3, GJB4, GJB6
27troyer syndrome10.2GJA1, GJB2, GJB4, GJB6
28cleft palate with ankyloglossia10.1EDA, EDARADD
29hypouricemia, renal, 210.1EVC, EVC2
30duodenum cancer10.1GJB2, GJB3, GJB6
31insr-related hyperinsulinism10.1EDAR, EDARADD, WNT10A
32mitochondrial non-syndromic sensorineural deafness10.1GJA1, GJB2, GJB3, GJB6
33hypoplastic thumbs hydranencephaly10.1EDAR, EDARADD, WNT10A
34partial fetal alcohol syndrome10.1EVC, EVC2, GJA1
35neonatal respiratory failure10.1EDA, EDAR, EDARADD
36beriberi10.1ANTXR1, EDA, EDARADD
37bartter syndrome, type 110.1GJB2, GJB6
38pseudomyotonia10.1GJA1, GJB2, GJB3, GJB4, GJB6
39erythrokeratodermia variabilis et progressiva10.1GJA1, GJB2, GJB3, GJB4, GJB6
40solitary bone cyst10.1GJA1, GJB2, GJB3, GJB4, GJB6
41x-linked nonsyndromic deafness10.1GJA1, GJB2, GJB3, GJB6, TUBA3C
42spinal cord lipoma10.0EDA, GJB6
43end stage renal failure10.0EDA, EDAR, EDARADD, GJB6
44lemierre's syndrome10.0GJA1, GJB2, SLURP1
45carotid artery thrombosis10.0GJB2, GJB3, SLURP1
46mesenchymal chondrosarcoma10.0GJA1, GJB2, GJB3, HR
47breast leiomyoma9.9GJA1, GJB2, SLURP1
48glioblastoma mesenchymal subtype9.9HR, WNT10A
49nanophthalmos 39.9EDA, EDAR, EDARADD, WNT10A
50taeniasis9.9EDA, EDAR, EDARADD, WNT10A

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



Diseases related to ectodermal dysplasia 2, clouston type

Symptoms & Phenotypes 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:

 54 64 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus64 54 Occasional (29-5%) HP:0000486
2 cataract64 54 Frequent (79-30%) HP:0000518
3 sparse eyebrow54 Frequent (79-30%)
4 photophobia64 54 Frequent (79-30%) HP:0000613
5 abnormality of the nasolacrimal system64 54 Occasional (29-5%) HP:0000614
6 sparse eyelashes64 54 Frequent (79-30%) HP:0000653
7 palmoplantar keratoderma64 54 Frequent (79-30%) HP:0000982
8 hypotrichosis64 54 Frequent (79-30%) HP:0001006
9 hand polydactyly64 54 Occasional (29-5%) HP:0001161
10 alopecia64 54 Very frequent (99-80%) HP:0001596
11 hyperconvex nail64 54 Very frequent (99-80%) HP:0001795
12 thick nail64 54 Very frequent (99-80%) HP:0001805
13 onycholysis64 54 Very frequent (99-80%) HP:0001806
14 fragile nails64 54 Very frequent (99-80%) HP:0001808
15 nail dysplasia64 54 Very frequent (99-80%) HP:0002164
16 sparse scalp hair64 54 Very frequent (99-80%) HP:0002209
17 fine hair64 54 Frequent (79-30%) HP:0002213
18 sparse axillary hair64 54 Very frequent (99-80%) HP:0002215
19 sparse pubic hair64 54 Very frequent (99-80%) HP:0002225
20 short stature64 54 Frequent (79-30%) HP:0004322
21 craniofacial hyperostosis64 54 Occasional (29-5%) HP:0004493
22 finger syndactyly64 54 Occasional (29-5%) HP:0006101
23 irregular hyperpigmentation64 54 Very frequent (99-80%) HP:0007400
24 generalized hyperpigmentation64 54 Very frequent (99-80%) HP:0007440
25 sparse hair54 Frequent (79-30%)
26 cognitive impairment64 54 Occasional (29-5%) HP:0100543
27 abnormality of nail color64 54 Very frequent (99-80%) HP:0100643
28 clubbing of toes64 54 Occasional (29-5%) HP:0100760
29 skin ulcer64 54 Frequent (79-30%) HP:0200042
30 abnormality of the teeth64 HP:0000164
31 blepharitis64 HP:0000498
32 conjunctivitis64 HP:0000509
33 sparse and thin eyebrow64 HP:0000535
34 hyperpigmentation of the skin64 HP:0000953
35 ectodermal dysplasia64 HP:0000968
36 palmoplantar hyperkeratosis64 HP:0000972
37 small nail64 HP:0001792
38 slow-growing hair64 HP:0002217
39 absent axillary hair64 HP:0002221
40 brittle hair64 HP:0002299
41 absent pubic hair64 HP:0002555
42 alopecia totalis64 HP:0007418
43 nail dystrophy64 HP:0008404

UMLS symptoms related to Ectodermal Dysplasia 2, Clouston Type:


photophobia

MGI Mouse Phenotypes related to Ectodermal Dysplasia 2, Clouston Type according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3EDARADD, FGF9, GJA1, GJB2, GJB6, HR
2MP:00053858.7ANTXR1, EDAR, FGF9, GJA1, GJB2, GJB3
3MP:00053828.3ANTXR1, EDAR, EDARADD, EVC, EVC2, FGF9
4MP:00053718.2EDAR, EDARADD, EVC, EVC2, FGF9, GJA1
5MP:00053898.2ANTXR1, EDAR, EDARADD, EVC, FGF9, GJA1
6MP:00053907.8ANTXR1, EDARADD, EVC, EVC2, FGF9, GJA1
7MP:00053847.6ANTXR1, EDAR, EVC, EVC2, FGF9, GJA1
8MP:00107717.4EDAR, EDARADD, FGF9, GJA1, GJB2, GJB3
9MP:00053786.9ANTXR1, EDAR, EDARADD, EVC, EVC2, FGF9

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 Syndrome27
2 Hidrotic Ectodermal Dysplasia27

Anatomical Context for Ectodermal Dysplasia 2, Clouston Type

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

36
Skin

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:

70
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.31G> A (p.Gly11Arg)SNVPathogenicrs104894415GRCh37Chr 13, 20797589: 20797589
2GJB6NM_ 006783.4(GJB6): c.263C> T (p.Ala88Val)SNVPathogenicrs28937872GRCh37Chr 13, 20797357: 20797357
3GJB6NM_ 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
1cell junctionGO:00300549.7GJA1, GJB2, GJB3, GJB4, GJB6
2connexin complexGO:00059229.7GJA1, GJB2, GJB3, GJB4, GJB6
3gap junctionGO:00059219.3GJA1, 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
1decidualizationGO:004669710.7GJA1, GJB2
2gap junction assemblyGO:001626410.7GJA1, GJB2
3positive regulation of smoothened signaling pathwayGO:004588010.3EVC, FGF9
4positive regulation of NF-kappaB import into nucleusGO:004234610.2EDA, EDAR
5salivary gland cavitationGO:006066210.2EDA, EDAR
6positive regulation of I-kappaB kinase/NF-kappaB signalingGO:004312310.0EDA, EDAR, GJA1
7cell communicationGO:00071549.9GJA1, GJB2, GJB3, GJB4, GJB6
8skin developmentGO:00435889.8EDA, GJB3, WNT10A
9positive regulation of gene expressionGO:00106289.4EDA, EDAR, FGF9, WNT10A
10tumor necrosis factor-mediated signaling pathwayGO:00332099.4EDA, EDAR, EDARADD

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet