HED2
MCID: CLS005
MIFTS: 51

Clouston Syndrome (HED2) malady

Genetic diseases, Skin diseases, Fetal diseases, Rare diseases categories
Download this MalaCard

Summaries for Clouston Syndrome

About this section


Fully expand this MalaCard
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.

MalaCards based summary: Clouston Syndrome, also known as hidrotic ectodermal dysplasia, is related to hidrotic ectodermal dysplasia 2 and sensorineural hearing loss, and has symptoms including hairy patch, diffuse/generalised skin hyperpigmentation/melanoderma and irregular/in bands/reticular skin hyperpigmentation. An important gene associated with Clouston Syndrome is GJB6 (gap junction protein, beta 6, 30kDa), and among its related pathways are Cell adhesion Gap junctions and Myometrial Relaxation and Contraction Pathways. The compounds 10panx and gap 27 have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

Wikipedia:65 Clouston\'s hidrotic ectodermal dysplasia (also known as \"Alopecia congenita with keratosis... more...

Description from OMIM:46 129500

Aliases & Classifications for Clouston Syndrome

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 62UMLS, 46OMIM, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Clouston Syndrome, Aliases & Descriptions:

Name: Clouston Syndrome 8 21 10 48
Hidrotic Ectodermal Dysplasia 8 48 62
Clouston's Hidrotic Ectodermal Dysplasia 8 62
Hidrotic Ectodermal Dysplasia Syndrome 8 62
Ectodermal Dysplasia 2, Clouston Type 21 46
Clouston's Syndrome 8 21
 
Ectd2 21 62
Clouston Hidrotic Ectodermal Dysplasia 21
Ectodermal Dysplasia 2, Hidrotic 62
Hidrotic Ectodermal Dysplasia 2 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):

48
clouston syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Normal


External Ids:

Disease Ontology8 DOID:14693
MeSH34 D004476
OMIM46 129500
SNOMED-CT57 54209007
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet63 C0162361

Related Diseases for Clouston Syndrome

About this section

Graphical network of the top 20 diseases related to Clouston Syndrome:



Diseases related to clouston syndrome

Symptoms for Clouston Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

129500

Clinical features from OMIM:

129500

Symptoms:

48 (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 Clouston Syndrome:

(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 Clouston Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Clouston Syndrome

Search NIH Clinical Center for Clouston Syndrome

Genetic Tests for Clouston Syndrome

About this section

Anatomical Context for Clouston Syndrome

About this section

MalaCards organs/tissues related to Clouston Syndrome:

32
Skin

Animal Models for Clouston Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Clouston Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.6GJB4, TP63
2MP:00053779.0GJB2, GJB6, EDARADD
3MP:00107718.0EDARADD, EDAR, TP63, GJB2, GJB3
4MP:00053767.8EDARADD, TP63, GJB6, GJB2, GJB3
5MP:00053717.7EVC2, GJB2, TP63, EDAR, EDARADD
6MP:00053827.6EDARADD, EDAR, TP63, GJB2, EVC2
7MP:00107687.1EDARADD, EDAR, TP63, GJB2, GJB3, EVC2

Publications for Clouston Syndrome

About this section

Articles related to Clouston Syndrome:

(show all 22)
idTitleAuthorsYear
1
Clouston syndrome associated with eccrine syringofibroadenoma. (24937830)
2014
2
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice. (24685692)
2014
3
Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. (23863883)
2013
4
GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. (23219093)
2013
5
Clouston syndrome: first case in Russia. (24052723)
2012
6
Clouston syndrome and eccrine syringofibroadenomas. (19318801)
2009
7
A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis. (18717672)
2008
8
Clouston syndrome associated with severe congenital pseudo-ainhum. (17542906)
2007
9
A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. (15245427)
2004
10
Clouston syndrome can mimic pachyonychia congenita. (14708603)
2003
11
Metastatic melanoma in a patient with Clouston syndrome successfully treated with isolated hyperthermic limb perfusion. (12362262)
2003
12
A novel connexin 30 mutation in Clouston syndrome. (11874494)
2002
13
What syndrome is this? Hidrotic ectodermal dysplasia (Clouston syndrome). (10720992)
2000
14
Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family. (10730756)
2000
15
A 1.5-Mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosome 13q11. (10903849)
2000
16
Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations. (9665391)
1998
17
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. (9215774)
1997
18
Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17. (8752831)
1996
19
Clouston syndrome: an ectodermal dysplasia without significant dental findings. (8741874)
1996
20
A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome? (8574423)
1995
21
Clouston syndrome: a rare autosomal dominant trait with palmoplantar hyperkeratosis and alopecia. (1837030)
1991
22
Clouston syndrome: an ultrastructural study. (6616952)
1983

Variations for Clouston Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Clouston Syndrome:

64
id Symbol AA change Variation ID SNP ID
1GJB6p.Gly11ArgVAR_015696
2GJB6p.Ala88ValVAR_015697rs28937872
3GJB6p.Val37GluVAR_016838

Clinvar genetic disease variations for Clouston Syndrome:

6
id Gene Name 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 Clouston Syndrome

About this section
Expression patterns in normal tissues for genes affiliated with Clouston Syndrome

Search GEO for disease gene expression data for Clouston Syndrome.

Pathways for genes affiliated with Clouston Syndrome

About this section

Compounds for genes affiliated with Clouston Syndrome

About this section

Compounds related to Clouston Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx619.1GJB3, GJB6, GJB2, GJB4
2gap 27619.0GJB6, GJB2, GJB4, GJB3
3carbenoxolone disodium619.0GJB6, GJB2, GJB4, GJB3
4scrambled 10panx619.0GJB6, GJB2, GJB4, GJB3
5octanol28 249.9GJB6, GJB2, GJB4, GJB3
6flufenamic acid28 44 2 1111.9GJB3, GJB4, GJB2, GJB6
7carbenoxolone44 28 1110.8GJB3, GJB4, GJB2, GJB6
8ca2+288.6GJB6, GJB2, GJB4, GJB3

GO Terms for genes affiliated with Clouston Syndrome

About this section

Cellular components related to Clouston Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:0059228.6GJB3, GJB4, GJB2, GJB6
2integral component of membraneGO:0160217.5GJB6, GJB2, GJB4, GJB3, EVC2, EDAR

Biological processes related to Clouston Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:0071549.4GJB3, GJB4, GJB6
2sensory perception of soundGO:0076059.2GJB6, GJB2, GJB3
3apoptotic processGO:0069159.1GJB6, TP63, EDAR
4hair follicle developmentGO:0019429.0EDAR, EDARADD
5odontogenesis of dentin-containing toothGO:0424758.8TP63, EDAR, EDARADD

Molecular functions related to Clouston Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.6GJB3, GJB2

Products for genes affiliated with Clouston Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Clouston Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet