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

Aliases & Descriptions for Ectodermal Dysplasia 2, Clouston Type:

Name: Ectodermal Dysplasia 2, Clouston Type 54 25 66 13
Clouston Syndrome 54 12 50 25 56 66 14
Hidrotic Ectodermal Dysplasia 12 56 52 69
Clouston's Hidrotic Ectodermal Dysplasia 12 50
Ectodermal Dysplasia, Hidrotic 50 29
Ectodermal Dysplasia 42 69
Clouston's Syndrome 12 25
Ectd2 25 66
Hed2 25 66
Ed2 50 66
Hidrotic Ectodermal Dysplasia, Autosomal Dominant 50
Autosomal Dominant Hidrotic Ectodermal Dysplasia 50
Ectodermal Dysplasia Hidrotic Autosomal Dominant 66
Hidrotic Ectodermal Dysplasia Syndrome 12
Clouston Hidrotic Ectodermal Dysplasia 25
Hidrotic Ectodermal Dysplasia 2 25
Ectodermal Dysplasia 2 Hidrotic 66
Hed 50

Characteristics:

Orphanet epidemiological data:

56
hidrotic ectodermal dysplasia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

HPO:

32
ectodermal dysplasia 2, clouston type:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 129500
Disease Ontology 12 DOID:14693
MeSH 42 D004476
SNOMED-CT 64 54209007
Orphanet 56 ORPHA189
UMLS via Orphanet 70 C0162361
ICD10 via Orphanet 34 Q82.8
MedGen 40 C0162361
UMLS 69 C0162361

Summaries for Ectodermal Dysplasia 2, Clouston Type

NIH Rare Diseases : 50 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, finger syndactyly and cataract. An important gene associated with Ectodermal Dysplasia 2, Clouston Type is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways are Development Slit-Robo signaling and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include skin, and related phenotypes are growth/size/body region and cellular

UniProtKB/Swiss-Prot : 66 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 : 54 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

Diseases related to Ectodermal Dysplasia 2, Clouston Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
id Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 34.1 EDAR EDARADD
2 ectodermal dysplasia, hidrotic, christianson-fourie type 12.1
3 hidrotic ectodermal dysplasia 2 11.3
4 dnase1-related susceptibility to systemic lupus erythematosus 10.3 GJB2 GJB6
5 down syndrome-related congenital heart disease 10.3 GJB2 GJB6
6 spastic ataxia, charlevoix-saguenay type 10.3 GJB2 GJB6
7 pik3ca-related segmental overgrowth 10.3 GJB2 GJB6
8 bietti crystalline corneoretinal dystrophy 10.3 GJB2 GJB6
9 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 10.3 GJA1 GJB2
10 prostate cancer 10.3 EDAR EDARADD
11 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 10.3 EDAR EDARADD
12 pink1 type of young-onset parkinson disease 10.3 GJB2 GJB3 GJB6
13 keratoderma, palmoplantar, with deafness 10.3 GJB2 GJB3 GJB6
14 hereditary thrombocytosis with transverse limb defect 10.3 GJB2 GJB3 GJB4
15 molluscum contagiosum 10.3 GJB2 GJB3 GJB6
16 ehlers-danlos syndrome, type viib 10.2 GJB2 GJB3 GJB4
17 ectodermal dysplasia 10.2
18 hypoplastic left heart syndrome 1 10.2 GJA1 GJB2 GJB4
19 erythrocytosis due to bisphosphoglycerate mutase deficiency 10.2 GJB2 GJB3 GJB6
20 congenital herpes simplex 10.2 GJB2 GJB6
21 cockayne syndrome 10.2 GJB2 GJB3 GJB6
22 narcissistic personality disorder 10.2 GJB2 GJB3 GJB6
23 obesity susceptibility, adrb3-related 10.2 GJB2 GJB3 GJB6
24 die smulders droog van dijk syndrome 10.2 GJB2 GJB3 GJB6 TUBA3C
25 telangiectasia macularis eruptiva perstans 10.2 GJB2 GJB3 GJB6
26 klumpke paralysis 10.2 GJB2 GJB3 GJB4 GJB6
27 troyer syndrome 10.2 GJA1 GJB2 GJB4 GJB6
28 cleft palate with ankyloglossia 10.1 EDA EDARADD
29 hypouricemia, renal, 2 10.1 EVC EVC2
30 duodenum cancer 10.1 GJB2 GJB3 GJB6
31 insr-related hyperinsulinism 10.1 EDAR EDARADD WNT10A
32 mitochondrial non-syndromic sensorineural deafness 10.1 GJA1 GJB2 GJB3 GJB6
33 hypoplastic thumbs hydranencephaly 10.1 EDAR EDARADD WNT10A
34 partial fetal alcohol syndrome 10.1 EVC EVC2 GJA1
35 neonatal respiratory failure 10.1 EDA EDAR EDARADD
36 beriberi 10.1 ANTXR1 EDA EDARADD
37 bartter syndrome, type 1 10.1 GJB2 GJB6
38 pseudomyotonia 10.1 GJA1 GJB2 GJB3 GJB4 GJB6
39 erythrokeratodermia variabilis et progressiva 10.1 GJA1 GJB2 GJB3 GJB4 GJB6
40 solitary bone cyst 10.1 GJA1 GJB2 GJB3 GJB4 GJB6
41 x-linked nonsyndromic deafness 10.1 GJA1 GJB2 GJB3 GJB6 TUBA3C
42 spinal cord lipoma 10.0 EDA GJB6
43 end stage renal failure 10.0 EDA EDAR EDARADD GJB6
44 lemierre's syndrome 10.0 GJA1 GJB2 SLURP1
45 carotid artery thrombosis 10.0 GJB2 GJB3 SLURP1
46 mesenchymal chondrosarcoma 10.0 GJA1 GJB2 GJB3 HR
47 breast leiomyoma 9.9 GJA1 GJB2 SLURP1
48 glioblastoma mesenchymal subtype 9.9 HR WNT10A
49 nanophthalmos 3 9.9 EDA EDAR EDARADD WNT10A
50 taeniasis 9.9 EDA 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

Symptoms by clinical synopsis from OMIM:

129500

Clinical features from OMIM:

129500

Human phenotypes related to Ectodermal Dysplasia 2, Clouston Type:

56 32 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 56 32 Frequent (79-30%) HP:0000613
2 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
3 cataract 56 32 Frequent (79-30%) HP:0000518
4 craniofacial hyperostosis 56 32 Occasional (29-5%) HP:0004493
5 short stature 56 32 Frequent (79-30%) HP:0004322
6 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
7 palmoplantar keratoderma 56 32 Frequent (79-30%) HP:0000982
8 strabismus 56 32 Occasional (29-5%) HP:0000486
9 skin ulcer 56 32 Frequent (79-30%) HP:0200042
10 irregular hyperpigmentation 56 32 Very frequent (99-80%) HP:0007400
11 hypotrichosis 56 32 Frequent (79-30%) HP:0001006
12 hand polydactyly 56 32 Occasional (29-5%) HP:0001161
13 sparse scalp hair 56 32 Very frequent (99-80%) HP:0002209
14 fine hair 56 32 Frequent (79-30%) HP:0002213
15 alopecia 56 32 Very frequent (99-80%) HP:0001596
16 clubbing of toes 56 32 Occasional (29-5%) HP:0100760
17 generalized hyperpigmentation 56 32 Very frequent (99-80%) HP:0007440
18 nail dysplasia 56 32 Very frequent (99-80%) HP:0002164
19 sparse eyelashes 56 32 Frequent (79-30%) HP:0000653
20 abnormality of nail color 56 32 Very frequent (99-80%) HP:0100643
21 sparse pubic hair 56 32 Very frequent (99-80%) HP:0002225
22 abnormality of the nasolacrimal system 56 32 Occasional (29-5%) HP:0000614
23 hyperconvex nail 56 32 Very frequent (99-80%) HP:0001795
24 thick nail 56 32 Very frequent (99-80%) HP:0001805
25 onycholysis 56 32 Very frequent (99-80%) HP:0001806
26 fragile nails 56 32 Very frequent (99-80%) HP:0001808
27 sparse axillary hair 56 32 Very frequent (99-80%) HP:0002215
28 abnormality of the teeth 32 HP:0000164
29 nail dystrophy 32 HP:0008404
30 blepharitis 32 HP:0000498
31 small nail 32 HP:0001792
32 conjunctivitis 32 HP:0000509
33 sparse hair 56 Frequent (79-30%)
34 slow-growing hair 32 HP:0002217
35 sparse eyebrow 56 Frequent (79-30%)
36 hyperpigmentation of the skin 32 HP:0000953
37 palmoplantar hyperkeratosis 32 HP:0000972
38 alopecia totalis 32 HP:0007418
39 brittle hair 32 HP:0002299
40 ectodermal dysplasia 32 HP:0000968
41 absent axillary hair 32 HP:0002221
42 absent pubic hair 32 HP:0002555
43 sparse and thin eyebrow 32 HP:0000535

UMLS symptoms related to Ectodermal Dysplasia 2, Clouston Type:


photophobia

MGI Mouse Phenotypes related to Ectodermal Dysplasia 2, Clouston Type:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.11 ANTXR1 EDAR EDARADD EVC EVC2 FGF9
2 cellular MP:0005384 10.09 ANTXR1 EDAR EVC EVC2 FGF9 GJA1
3 cardiovascular system MP:0005385 10.06 GJA1 GJB2 GJB3 GJB6 HR ANTXR1
4 craniofacial MP:0005382 10.06 WNT10A ANTXR1 EDAR EDARADD EVC EVC2
5 integument MP:0010771 9.96 EDAR EDARADD FGF9 GJA1 GJB2 GJB3
6 hearing/vestibular/ear MP:0005377 9.8 FGF9 GJA1 GJB2 GJB6 HR EDARADD
7 limbs/digits/tail MP:0005371 9.76 EDAR EDARADD EVC EVC2 FGF9 GJA1
8 reproductive system MP:0005389 9.61 ANTXR1 EDAR EDARADD EVC FGF9 GJA1
9 skeleton MP:0005390 9.23 ANTXR1 EDARADD EVC EVC2 FGF9 GJA1

Drugs & Therapeutics for Ectodermal Dysplasia 2, Clouston Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 2, Clouston Type

Cochrane evidence based reviews: ectodermal dysplasia

Genetic Tests for Ectodermal Dysplasia 2, Clouston Type

Genetic tests related to Ectodermal Dysplasia 2, Clouston Type:

id Genetic test Affiliating Genes
1 Hidrotic Ectodermal Dysplasia Syndrome 29
2 Hidrotic Ectodermal Dysplasia 29

Anatomical Context for Ectodermal Dysplasia 2, Clouston Type

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

39
Skin

Publications for Ectodermal Dysplasia 2, Clouston Type

Variations for Ectodermal Dysplasia 2, Clouston Type

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 2, Clouston Type:

66
id Symbol AA change Variation ID SNP ID
1 GJB6 p.Gly11Arg VAR_015696 rs104894415
2 GJB6 p.Ala88Val VAR_015697 rs28937872
3 GJB6 p.Val37Glu VAR_016838 rs104894416

ClinVar genetic disease variations for Ectodermal Dysplasia 2, Clouston Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GJB6 NM_006783.4(GJB6): c.31G> A (p.Gly11Arg) single nucleotide variant Pathogenic rs104894415 GRCh37 Chromosome 13, 20797589: 20797589
2 GJB6 NM_006783.4(GJB6): c.263C> T (p.Ala88Val) single nucleotide variant Pathogenic rs28937872 GRCh37 Chromosome 13, 20797357: 20797357
3 GJB6 NM_006783.4(GJB6): c.110T> A (p.Val37Glu) single nucleotide variant Pathogenic rs104894416 GRCh37 Chromosome 13, 20797510: 20797510

Expression for Ectodermal Dysplasia 2, Clouston Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 2, Clouston Type.

Pathways for Ectodermal Dysplasia 2, Clouston Type

GO Terms for Ectodermal Dysplasia 2, Clouston Type

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

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.55 GJA1 GJB2 GJB3 GJB4 GJB6
2 gap junction GO:0005921 9.35 GJA1 GJB2 GJB3 GJB4 GJB6
3 connexin complex GO:0005922 9.02 GJA1 GJB2 GJB3 GJB4 GJB6

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.65 EDA EDAR GJA1
2 positive regulation of gene expression GO:0010628 9.62 EDA EDAR FGF9 WNT10A
3 tumor necrosis factor-mediated signaling pathway GO:0033209 9.54 EDA EDAR EDARADD
4 positive regulation of smoothened signaling pathway GO:0045880 9.46 EVC FGF9
5 decidualization GO:0046697 9.43 GJA1 GJB2
6 positive regulation of NF-kappaB import into nucleus GO:0042346 9.4 EDA EDAR
7 gap junction assembly GO:0016264 9.26 GJA1 GJB2
8 salivary gland cavitation GO:0060662 9.16 EDA EDAR
9 skin development GO:0043588 9.13 EDA GJB3 WNT10A
10 cell communication GO:0007154 9.02 GJA1 GJB2 GJB3 GJB4 GJB6

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

id Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.8 GJA1 GJB2 GJB3

Sources for Ectodermal Dysplasia 2, Clouston Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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