ECTD2
MCID: CLS005
MIFTS: 55

Clouston Syndrome (ECTD2)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Clouston Syndrome

MalaCards integrated aliases for Clouston Syndrome:

Name: Clouston Syndrome 58 12 77 54 26 60 76 15
Ectodermal Dysplasia 2, Clouston Type 58 12 26 76 13
Hidrotic Ectodermal Dysplasia 12 60 56 74
Hidrotic Ectodermal Dysplasia Syndrome 12 30 6
Ectd2 58 26 76
Clouston's Hidrotic Ectodermal Dysplasia 12 54
Clouston Hidrotic Ectodermal Dysplasia 58 26
Ectodermal Dysplasia 45 74
Clouston's Syndrome 12 26
Hed2 26 76
Ed2 54 76
Ectodermal Dysplasia, Hidrotic, 2, Formerly; Hed2, Formerly 58
Ectodermal Dysplasia, Hidrotic, Autosomal Dominant 58
Hidrotic Ectodermal Dysplasia, Autosomal Dominant 54
Autosomal Dominant Hidrotic Ectodermal Dysplasia 54
Ectodermal Dysplasia Hidrotic Autosomal Dominant 76
Ectodermal Dysplasia 2, Clouston Type; Ectd2 58
Ectodermal Dysplasia, Hidrotic, 2, Formerly 58
Hidrotic Ectodermal Dysplasia 2 26
Ectodermal Dysplasia 2 Hidrotic 76
Dysplasia, Ectodermal, Hidrotic 41
Ectodermal Dysplasia, Hidrotic 54
Hed2, Formerly 58
Hed 54

Characteristics:

Orphanet epidemiological data:

60
hidrotic ectodermal dysplasia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
complete penetrance with variable expressivity


HPO:

33
clouston syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Clouston Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Clouston Syndrome, also known as ectodermal dysplasia 2, clouston type, is related to ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant, and has symptoms including photophobia An important gene associated with Clouston Syndrome is GJB6 (Gap Junction Protein Beta 6), and among its related pathways/superpathways are G-Beta Gamma Signaling and Development Slit-Robo signaling. Affiliated tissues include skin and eye, and related phenotypes are alopecia and irregular hyperpigmentation

Genetics Home Reference : 26 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 : 58 The main features of Clouston syndrome are dystrophy of the nails that tend to be hypoplastic and deformed with increased susceptibility to paronychial infections, defects of the hair that range from brittleness and slow growth rate to total alopecia, and moderate to severe palmoplantar hyperkeratosis with reduced keratinocyte desquamation (summary by Kibar et al., 1996). (129500)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Clouston''s hidrotic ectodermal dysplasia (also known as "Alopecia congenita with keratosis... more...

Related Diseases for Clouston Syndrome

Diseases related to Clouston Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 356)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 32.4 EDA EDAR EDARADD WNT10A
2 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 32.4 EDAR EDARADD
3 anodontia 32.1 ANTXR1 EDA EDARADD
4 oculodentodigital dysplasia 31.8 GJA1 GJB2 GJB4
5 weyers acrofacial dysostosis 31.7 EVC EVC2
6 hypohidrotic ectodermal dysplasia autosomal recessive 31.5 EDAR EDARADD WNT10A
7 ainhum 30.6 GJA1 GJB2
8 alopecia 30.1 ANTXR1 GJA1 TP63
9 limbal stem cell deficiency 30.1 GJA1 TP63
10 kid syndrome 30.0 GJB2 GJB3 GJB4 GJB6
11 tooth agenesis 29.4 EDA EDAR EDARADD WNT10A
12 ectodermal dysplasia 28.7 EDA EDAR EDARADD EVC2 GJB2 GJB6
13 cleft lip/palate-ectodermal dysplasia syndrome 12.7
14 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 12.7
15 ectodermal dysplasia 4, hair/nail type 12.6
16 ectodermal dysplasia/skin fragility syndrome 12.6
17 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 12.6
18 ectodermal dysplasia-syndactyly syndrome 1 12.6
19 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.5
20 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 12.5
21 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.5
22 cerebellar ataxia and ectodermal dysplasia 12.5
23 ectodermal dysplasia 7, hair/nail type 12.5
24 ectodermal dysplasia 9, hair/nail type 12.5
25 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.5
26 ectodermal dysplasia, trichoodontoonychial type 12.5
27 ectodermal dysplasia/short stature syndrome 12.4
28 immunodeficiency without anhidrotic ectodermal dysplasia 12.4
29 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities 12.4
30 ectodermal dysplasia 13, hair/tooth type 12.4
31 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 12.4
32 ectodermal dysplasia, hidrotic, christianson-fourie type 12.4
33 ectodermal dysplasia 5, hair/nail type 12.4
34 ectodermal dysplasia 6, hair/nail type 12.4
35 congenital heart defects and ectodermal dysplasia 12.4
36 ectodermal dysplasia 8, hair/tooth/nail type 12.4
37 ectrodactyly and ectodermal dysplasia without cleft lip/palate 12.4
38 arthrogryposis and ectodermal dysplasia 12.3
39 ectodermal dysplasia-syndactyly syndrome 2 12.3
40 congenital ectodermal dysplasia with hearing loss 12.3
41 rapp-hodgkin syndrome 12.3
42 witkop syndrome 12.2
43 ectodermal dysplasia and neurosensory deafness 12.2
44 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet 12.2
45 ectodermal dysplasia with mental retardation and syndactyly 12.2
46 ectodermal dysplasia with natal teeth, turnpenny type 12.2
47 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 12.1
48 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities 12.1
49 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features 12.1
50 ectodermal dysplasia alopecia preaxial polydactyly 12.1

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



Diseases related to Clouston Syndrome

Symptoms & Phenotypes for Clouston Syndrome

Human phenotypes related to Clouston Syndrome:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
2 irregular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007400
3 sparse scalp hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002209
4 generalized hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007440
5 abnormality of nail color 60 33 hallmark (90%) Very frequent (99-80%) HP:0100643
6 sparse pubic hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002225
7 hyperconvex nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001795
8 thick nail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001805
9 onycholysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001806
10 fragile nails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001808
11 sparse axillary hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002215
12 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
13 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
14 photophobia 60 33 frequent (33%) Frequent (79-30%) HP:0000613
15 palmoplantar keratoderma 60 33 frequent (33%) Frequent (79-30%) HP:0000982
16 skin ulcer 60 33 frequent (33%) Frequent (79-30%) HP:0200042
17 hypotrichosis 60 33 frequent (33%) Frequent (79-30%) HP:0001006
18 fine hair 60 33 frequent (33%) Frequent (79-30%) HP:0002213
19 sparse eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0000653
20 sparse and thin eyebrow 33 frequent (33%) HP:0000535
21 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
22 craniofacial hyperostosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004493
23 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
24 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
25 hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001161
26 clubbing of toes 60 33 occasional (7.5%) Occasional (29-5%) HP:0100760
27 abnormal nasolacrimal system morphology 33 occasional (7.5%) HP:0000614
28 nail dysplasia 60 33 Very frequent (99-80%) HP:0002164
29 abnormality of the dentition 33 HP:0000164
30 nail dystrophy 33 HP:0008404
31 blepharitis 33 HP:0000498
32 small nail 33 HP:0001792
33 conjunctivitis 33 HP:0000509
34 sparse hair 60 Frequent (79-30%)
35 slow-growing hair 33 HP:0002217
36 sparse eyebrow 60 Frequent (79-30%)
37 hyperpigmentation of the skin 33 HP:0000953
38 abnormality of the nasolacrimal system 60 Occasional (29-5%)
39 palmoplantar hyperkeratosis 33 HP:0000972
40 alopecia totalis 33 HP:0007418
41 brittle hair 33 HP:0002299
42 ectodermal dysplasia 33 HP:0000968
43 absent axillary hair 33 HP:0002221
44 absent pubic hair 33 HP:0002555

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract
photophobia
strabismus
blepharitis
conjunctivitis
more
Skin Nails Hair Hair:
sparse eyelashes
absent axillary hair
absent pubic hair
sparse eyebrows
fine, brittle, slow-growing hair
more
Skin Nails Hair Skin:
palmoplantar hyperkeratosis
normal sweating capacity
hyperpigmentation (knuckles, elbows, axillae, areolae, pubic area)

Skeletal Hands:
thick, dyskeratotic palms
clubbed digits

Growth Height:
short stature

Skin Nails Hair Nails:
onycholysis
hypoplastic nails
onychodystrophy, severe
thick, discolored nails

Head And Neck Teeth:
normal teeth

Skeletal Feet:
thick, dyskeratotic soles

Clinical features from OMIM:

129500

UMLS symptoms related to Clouston Syndrome:


photophobia

MGI Mouse Phenotypes related to Clouston Syndrome:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.19 ANTXR1 EDAR EDARADD EVC EVC2 FGF9
2 cellular MP:0005384 10.16 ANTXR1 EDAR EVC EVC2 FGF9 GJA1
3 growth/size/body region MP:0005378 10.16 ANTXR1 EDAR EDARADD EVC EVC2 FGF9
4 cardiovascular system MP:0005385 10.13 ANTXR1 EDAR FGF9 GJA1 GJB2 GJB3
5 endocrine/exocrine gland MP:0005379 10.08 ANTXR1 EDAR EDARADD FGF9 GJA1 GJB6
6 integument MP:0010771 10.06 EDAR EDARADD FGF9 GJA1 GJB2 GJB3
7 limbs/digits/tail MP:0005371 10.02 EDAR EDARADD EVC EVC2 FGF9 GJA1
8 mortality/aging MP:0010768 10.02 ANTXR1 EDAR EDARADD EVC EVC2 FGF9
9 hearing/vestibular/ear MP:0005377 9.83 EDARADD FGF9 GJA1 GJB2 GJB6
10 reproductive system MP:0005389 9.81 ANTXR1 EDAR EDARADD EVC FGF9 GJA1
11 no phenotypic analysis MP:0003012 9.73 ANTXR1 GJA1 GJB2 GJB3 GJB6 TP63
12 skeleton MP:0005390 9.65 ANTXR1 EDAR EDARADD EVC EVC2 FGF9
13 taste/olfaction MP:0005394 8.8 GJB4 TP63 WNT10A

Drugs & Therapeutics for Clouston Syndrome

Search Clinical Trials , NIH Clinical Center for Clouston Syndrome

Cochrane evidence based reviews: ectodermal dysplasia

Genetic Tests for Clouston Syndrome

Genetic tests related to Clouston Syndrome:

# Genetic test Affiliating Genes
1 Hidrotic Ectodermal Dysplasia Syndrome 30 GJB6

Anatomical Context for Clouston Syndrome

MalaCards organs/tissues related to Clouston Syndrome:

42
Skin, Eye

Publications for Clouston Syndrome

Articles related to Clouston Syndrome:

(show all 30)
# Title Authors Year
1
Pterygium and thinning of nails as an unusual manifestation in Clouston syndrome. ( 30908727 )
2019
2
Do you know this syndrome? Clouston syndrome. ( 29186264 )
2017
3
Identification of<i>GJB6</i>gene mutation in an Indian man with Clouston syndrome. ( 27643550 )
2016
4
Immune system disturbances in Clouston syndrome. ( 26551294 )
2016
5
Well-Differentiated Syringofibrocarcinoma in a Patient With Clouston Syndrome. ( 26792110 )
2016
6
Pincer nail deformity as the main manifestation of Clouston syndrome. ( 25677863 )
2015
7
Novel mutations in GJB6 and GJB2 in Clouston syndrome. ( 25808784 )
2015
8
Clouston Syndrome: 25-year follow-up of a patient. ( 26734875 )
2015
9
Clouston syndrome associated with eccrine syringofibroadenoma. ( 24937830 )
2014
10
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice. ( 24685692 )
2014
11
Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. ( 23863883 )
2013
12
GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. ( 23219093 )
2013
13
Clouston syndrome: first case in Russia. ( 24052723 )
2012
14
Clouston syndrome and eccrine syringofibroadenomas. ( 19318801 )
2009
15
A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis. ( 18717672 )
2008
16
Clouston syndrome associated with severe congenital pseudo-ainhum. ( 17542906 )
2007
17
A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. ( 15245427 )
2004
18
Metastatic melanoma in a patient with Clouston syndrome successfully treated with isolated hyperthermic limb perfusion. ( 12362262 )
2003
19
Clouston syndrome can mimic pachyonychia congenita. ( 14708603 )
2003
20
A novel connexin 30 mutation in Clouston syndrome. ( 11874494 )
2002
21
Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family. ( 10730756 )
2000
22
A 1.5-Mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosome 13q11. ( 10903849 )
2000
23
What syndrome is this? Hidrotic ectodermal dysplasia (Clouston syndrome). ( 10720992 )
2000
24
Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations. ( 9665391 )
1998
25
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
26
Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17. ( 8752831 )
1996
27
Clouston syndrome: an ectodermal dysplasia without significant dental findings. ( 8741874 )
1996
28
A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome? ( 8574423 )
1995
29
Clouston syndrome: a rare autosomal dominant trait with palmoplantar hyperkeratosis and alopecia. ( 1837030 )
1991
30
Clouston syndrome: an ultrastructural study. ( 6616952 )
1983

Variations for Clouston Syndrome

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

76
# 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 Clouston Syndrome:

6 (show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB6 NM_006783.4(GJB6): c.209C> T (p.Pro70Leu) single nucleotide variant Uncertain significance rs727505123 GRCh37 Chromosome 13, 20797411: 20797411
2 GJB6 NM_006783.4(GJB6): c.209C> T (p.Pro70Leu) single nucleotide variant Uncertain significance rs727505123 GRCh38 Chromosome 13, 20223272: 20223272
3 GJB6 NM_006783.4(GJB6): c.339T> A (p.Asn113Lys) single nucleotide variant Benign/Likely benign rs143766955 GRCh37 Chromosome 13, 20797281: 20797281
4 GJB6 NM_006783.4(GJB6): c.339T> A (p.Asn113Lys) single nucleotide variant Benign/Likely benign rs143766955 GRCh38 Chromosome 13, 20223142: 20223142
5 GJB6 NM_006783.4(GJB6): c.177A> G (p.Gly59=) single nucleotide variant Uncertain significance rs371123633 GRCh37 Chromosome 13, 20797443: 20797443
6 GJB6 NM_006783.4(GJB6): c.177A> G (p.Gly59=) single nucleotide variant Uncertain significance rs371123633 GRCh38 Chromosome 13, 20223304: 20223304
7 GJB6 NM_006783.4(GJB6): c.31G> A (p.Gly11Arg) single nucleotide variant Pathogenic rs104894415 GRCh37 Chromosome 13, 20797589: 20797589
8 GJB6 NM_006783.4(GJB6): c.31G> A (p.Gly11Arg) single nucleotide variant Pathogenic rs104894415 GRCh38 Chromosome 13, 20223450: 20223450
9 GJB6 NM_006783.4(GJB6): c.263C> T (p.Ala88Val) single nucleotide variant Pathogenic rs28937872 GRCh37 Chromosome 13, 20797357: 20797357
10 GJB6 NM_006783.4(GJB6): c.263C> T (p.Ala88Val) single nucleotide variant Pathogenic rs28937872 GRCh38 Chromosome 13, 20223218: 20223218
11 GJB6 NM_006783.4(GJB6): c.110T> A (p.Val37Glu) single nucleotide variant Pathogenic rs104894416 GRCh37 Chromosome 13, 20797510: 20797510
12 GJB6 NM_006783.4(GJB6): c.110T> A (p.Val37Glu) single nucleotide variant Pathogenic rs104894416 GRCh38 Chromosome 13, 20223371: 20223371
13 GJB6 NM_006783.4(GJB6): c.15G> A (p.Thr5=) single nucleotide variant Conflicting interpretations of pathogenicity rs150075979 GRCh37 Chromosome 13, 20797605: 20797605
14 GJB6 NM_006783.4(GJB6): c.15G> A (p.Thr5=) single nucleotide variant Conflicting interpretations of pathogenicity rs150075979 GRCh38 Chromosome 13, 20223466: 20223466
15 GJB6 NM_006783.4(GJB6): c.489G> A (p.Leu163=) single nucleotide variant Conflicting interpretations of pathogenicity rs35002004 GRCh37 Chromosome 13, 20797131: 20797131
16 GJB6 NM_006783.4(GJB6): c.489G> A (p.Leu163=) single nucleotide variant Conflicting interpretations of pathogenicity rs35002004 GRCh38 Chromosome 13, 20222992: 20222992
17 GJB6 NM_006783.4(GJB6): c.595T> A (p.Ser199Thr) single nucleotide variant Benign rs111033338 GRCh37 Chromosome 13, 20797025: 20797025
18 GJB6 NM_006783.4(GJB6): c.595T> A (p.Ser199Thr) single nucleotide variant Benign rs111033338 GRCh38 Chromosome 13, 20222886: 20222886
19 GJB6 NM_006783.4(GJB6): c.680C> T (p.Thr227Met) single nucleotide variant Uncertain significance rs199790650 GRCh38 Chromosome 13, 20222801: 20222801
20 GJB6 NM_006783.4(GJB6): c.680C> T (p.Thr227Met) single nucleotide variant Uncertain significance rs199790650 GRCh37 Chromosome 13, 20796940: 20796940
21 GJB6 NM_006783.4(GJB6): c.60C> T (p.Ile20=) single nucleotide variant Uncertain significance rs778513540 GRCh38 Chromosome 13, 20223421: 20223421
22 GJB6 NM_006783.4(GJB6): c.60C> T (p.Ile20=) single nucleotide variant Uncertain significance rs778513540 GRCh37 Chromosome 13, 20797560: 20797560
23 GJB6 NM_006783.4(GJB6): c.-122T> C single nucleotide variant Uncertain significance rs886050031 GRCh38 Chromosome 13, 20229686: 20229686
24 GJB6 NM_006783.4(GJB6): c.-122T> C single nucleotide variant Uncertain significance rs886050031 GRCh37 Chromosome 13, 20803825: 20803825
25 GJB6 NM_006783.4(GJB6): c.-227C> T single nucleotide variant Uncertain significance rs55901410 GRCh38 Chromosome 13, 20230907: 20230907
26 GJB6 NM_006783.4(GJB6): c.-227C> T single nucleotide variant Uncertain significance rs55901410 GRCh37 Chromosome 13, 20805046: 20805046
27 GJB6 NM_006783.4(GJB6): c.-256G> A single nucleotide variant Uncertain significance rs539881427 GRCh38 Chromosome 13, 20230936: 20230936
28 GJB6 NM_006783.4(GJB6): c.-256G> A single nucleotide variant Uncertain significance rs539881427 GRCh37 Chromosome 13, 20805075: 20805075
29 GJB6 NM_006783.4(GJB6): c.*559C> T single nucleotide variant Uncertain significance rs886050029 GRCh38 Chromosome 13, 20222136: 20222136
30 GJB6 NM_006783.4(GJB6): c.*559C> T single nucleotide variant Uncertain significance rs886050029 GRCh37 Chromosome 13, 20796275: 20796275
31 GJB6 NM_006783.4(GJB6): c.*25C> T single nucleotide variant Uncertain significance rs112845420 GRCh38 Chromosome 13, 20222670: 20222670
32 GJB6 NM_006783.4(GJB6): c.*25C> T single nucleotide variant Uncertain significance rs112845420 GRCh37 Chromosome 13, 20796809: 20796809
33 GJB6 NM_006783.4(GJB6): c.666A> G (p.Ser222=) single nucleotide variant Uncertain significance rs138571061 GRCh38 Chromosome 13, 20222815: 20222815
34 GJB6 NM_006783.4(GJB6): c.666A> G (p.Ser222=) single nucleotide variant Uncertain significance rs138571061 GRCh37 Chromosome 13, 20796954: 20796954
35 GJB6 NM_006783.4(GJB6): c.-3G> A single nucleotide variant Uncertain significance rs372835743 GRCh38 Chromosome 13, 20223483: 20223483
36 GJB6 NM_006783.4(GJB6): c.-3G> A single nucleotide variant Uncertain significance rs372835743 GRCh37 Chromosome 13, 20797622: 20797622
37 GJB6 NM_006783.4(GJB6): c.-105T> A single nucleotide variant Likely benign rs114639494 GRCh38 Chromosome 13, 20229669: 20229669
38 GJB6 NM_006783.4(GJB6): c.-105T> A single nucleotide variant Likely benign rs114639494 GRCh37 Chromosome 13, 20803808: 20803808
39 GJB6 NM_006783.4(GJB6): c.-178C> T single nucleotide variant Uncertain significance rs886050034 GRCh38 Chromosome 13, 20229742: 20229742
40 GJB6 NM_006783.4(GJB6): c.-178C> T single nucleotide variant Uncertain significance rs886050034 GRCh37 Chromosome 13, 20803881: 20803881
41 GJB6 NM_006783.4(GJB6): c.-226A> C single nucleotide variant Uncertain significance rs886050035 GRCh38 Chromosome 13, 20230906: 20230906
42 GJB6 NM_006783.4(GJB6): c.-226A> C single nucleotide variant Uncertain significance rs886050035 GRCh37 Chromosome 13, 20805045: 20805045
43 GJB6 NM_006783.4(GJB6): c.-337G> A single nucleotide variant Uncertain significance rs61058739 GRCh38 Chromosome 13, 20231017: 20231017
44 GJB6 NM_006783.4(GJB6): c.-337G> A single nucleotide variant Uncertain significance rs61058739 GRCh37 Chromosome 13, 20805156: 20805156
45 GJB6 NM_006783.4(GJB6): c.-419T> C single nucleotide variant Uncertain significance rs886050037 GRCh38 Chromosome 13, 20231099: 20231099
46 GJB6 NM_006783.4(GJB6): c.-419T> C single nucleotide variant Uncertain significance rs886050037 GRCh37 Chromosome 13, 20805238: 20805238
47 GJB6 NM_006783.4(GJB6): c.*714C> T single nucleotide variant Uncertain significance rs76179836 GRCh38 Chromosome 13, 20221981: 20221981
48 GJB6 NM_006783.4(GJB6): c.*714C> T single nucleotide variant Uncertain significance rs76179836 GRCh37 Chromosome 13, 20796120: 20796120
49 GJB6 NM_006783.4(GJB6): c.*628G> T single nucleotide variant Uncertain significance rs577545882 GRCh38 Chromosome 13, 20222067: 20222067
50 GJB6 NM_006783.4(GJB6): c.*628G> T single nucleotide variant Uncertain significance rs577545882 GRCh37 Chromosome 13, 20796206: 20796206

Expression for Clouston Syndrome

Search GEO for disease gene expression data for Clouston Syndrome.

Pathways for Clouston Syndrome

GO Terms for Clouston Syndrome

Cellular components related to Clouston Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.65 GJA1 GJB2 GJB3 GJB4 GJB6
2 gap junction GO:0005921 9.35 GJA1 GJB2 GJB3 GJB4 GJB6
3 plasma membrane protein complex GO:0098797 9.16 EVC EVC2
4 connexin complex GO:0005922 9.02 GJA1 GJB2 GJB3 GJB4 GJB6
5 plasma membrane GO:0005886 10.02 ANTXR1 EDA EDAR EVC EVC2 GJA1

Biological processes related to Clouston Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 EDA EDAR EDARADD FGF9 TP63 WNT10A
2 positive regulation of gene expression GO:0010628 9.77 EDA EDAR FGF9 GJA1 WNT10A
3 aging GO:0007568 9.72 GJB2 GJB6 TP63
4 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.71 EDA EDAR GJA1
5 response to lipopolysaccharide GO:0032496 9.7 GJA1 GJB2 GJB6
6 tumor necrosis factor-mediated signaling pathway GO:0033209 9.63 EDA EDAR EDARADD
7 odontogenesis of dentin-containing tooth GO:0042475 9.58 EDA EDAR TP63
8 positive regulation of smoothened signaling pathway GO:0045880 9.56 EVC FGF9
9 hair follicle morphogenesis GO:0031069 9.51 TP63 WNT10A
10 decidualization GO:0046697 9.49 GJA1 GJB2
11 gap junction assembly GO:0016264 9.43 GJA1 GJB2
12 skin development GO:0043588 9.33 EDA GJB3 WNT10A
13 salivary gland cavitation GO:0060662 9.32 EDA EDAR
14 epididymis development GO:1905867 9.26 GJA1 GJB2
15 hair follicle development GO:0001942 9.13 EDAR TP63 WNT10A
16 cell communication GO:0007154 9.02 GJA1 GJB2 GJB3 GJB4 GJB6

Molecular functions related to Clouston Syndrome according to GeneCards Suite gene sharing:

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

Sources for Clouston Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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