ECTD2
MCID: CLS005
MIFTS: 52

Clouston Syndrome (ECTD2)

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Clouston Syndrome

MalaCards integrated aliases for Clouston Syndrome:

Name: Clouston Syndrome 57 12 76 53 25 59 75 15
Ectodermal Dysplasia 2, Clouston Type 57 25 75 13
Hidrotic Ectodermal Dysplasia 12 59 55 73
Hidrotic Ectodermal Dysplasia Syndrome 12 29 6
Ectd2 57 25 75
Clouston's Hidrotic Ectodermal Dysplasia 12 53
Clouston Hidrotic Ectodermal Dysplasia 57 25
Ectodermal Dysplasia, Hidrotic 53 37
Ectodermal Dysplasia 44 73
Clouston's Syndrome 12 25
Hed2 25 75
Ed2 53 75
Ectodermal Dysplasia, Hidrotic, 2, Formerly; Hed2, Formerly 57
Ectodermal Dysplasia, Hidrotic, Autosomal Dominant 57
Hidrotic Ectodermal Dysplasia, Autosomal Dominant 53
Autosomal Dominant Hidrotic Ectodermal Dysplasia 53
Ectodermal Dysplasia Hidrotic Autosomal Dominant 75
Ectodermal Dysplasia 2, Clouston Type; Ectd2 57
Ectodermal Dysplasia, Hidrotic, 2, Formerly 57
Hidrotic Ectodermal Dysplasia 2 25
Ectodermal Dysplasia 2 Hidrotic 75
Dysplasia, Ectodermal, Hidrotic 40
Hed2, Formerly 57
Hed 53

Characteristics:

Orphanet epidemiological data:

59
hidrotic ectodermal dysplasia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
complete penetrance with variable expressivity


HPO:

32
clouston syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Clouston Syndrome

NIH Rare Diseases : 53 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 10a, hypohidrotic/hair/nail type, autosomal dominant and ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive, 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 related phenotypes are finger syndactyly and cataract

OMIM : 57 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 : 75 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.

Wikipedia : 76 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 65)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 32.5 EDAR EDARADD
2 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 31.9 EDA EDAR EDARADD WNT10A
3 hypohidrotic ectodermal dysplasia autosomal recessive 31.7 EDAR EDARADD WNT10A
4 ainhum 30.7 GJA1 GJB2
5 sensorineural hearing loss 30.1 GJB2 GJB3 GJB6
6 alopecia 30.0 ANTXR1 GJA1 TP63
7 ectodermal dysplasia 29.1 EDA EDAR EDARADD GJB6 TP63
8 ectodermal dysplasia, hidrotic, christianson-fourie type 12.2
9 ectodermal dysplasia, hypohidrotic, with immune deficiency 11.6
10 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 11.6
11 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.6
12 hidrotic ectodermal dysplasia 2 11.3
13 ectodermal dysplasia 1, hypohidrotic, x-linked 10.9
14 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 10.9
15 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant 10.8
16 hypermobile ehlers-danlos syndrome 10.8
17 hypohidrotic ectodermal dysplasia with immunodeficiency 10.8
18 deafness, autosomal dominant 24 10.8 GJB2 GJB6
19 congenital cytomegalovirus 10.8 GJB2 GJB6
20 deafness, autosomal dominant 3a 10.8 GJB2 GJB4
21 deafness, x-linked 2 10.8 GJB2 GJB6
22 vohwinkel syndrome 10.7 GJB2 GJB6
23 deafness, autosomal recessive 93 10.7 GJB2 GJB3
24 deafness, autosomal recessive 28 10.7 GJB2 GJB3
25 deafness, autosomal recessive 23 10.7 GJB2 GJB6
26 dfnb1 10.6 GJB2 GJB6 TUBA3C
27 hodgkin's lymphoma, nodular sclerosis 10.6 GJB2 GJB3 GJB6
28 vestibular disease 10.5 GJB2 GJB3 GJB6
29 hypotrichosis-deafness syndrome 10.5 GJB2 GJB3 GJB4
30 autosomal dominant non-syndromic sensorineural deafness type dfna 10.5 GJB2 GJB3 GJB6
31 inner ear disease 10.5 GJB2 GJB3 GJB6
32 auditory system disease 10.5 GJB2 GJB3 GJB6
33 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.5 GJB2 GJB3 GJB6
34 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.5 GJB2 GJB3 GJB4
35 limbal stem cell deficiency 10.4 GJA1 TP63
36 oculodentodigital dysplasia 10.4 GJA1 GJB2 GJB4
37 deafness, autosomal dominant 2a 10.4 GJB2 GJB6
38 extratemporal epilepsy 10.4 EDAR WNT10A
39 deafness, autosomal recessive 16 10.3 GJB2 GJB6
40 kid syndrome 10.3 GJB2 GJB3 GJB4 GJB6
41 deafness, autosomal recessive 1a 10.3 GJB2 GJB3 GJB4 GJB6
42 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.2 EDAR EDARADD WNT10A
43 knuckle pads, leukonychia, and sensorineural deafness 10.2 GJA1 GJB2 GJB4 GJB6
44 weyers acrofacial dysostosis 10.2 EVC EVC2
45 anodontia 10.2 ANTXR1 EDAR EDARADD
46 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.2 GJA1 GJB2 GJB3 GJB6
47 polydactyly, postaxial, type a1 10.1 EVC EVC2
48 orchitis 10.0 EDA GJB6
49 deafness, autosomal recessive 67 10.0 GJB2 GJB3
50 pseudoainhum 9.9 GJA1 GJB2 GJB3 GJB4 GJB6

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



Diseases related to Clouston Syndrome

Symptoms & Phenotypes for Clouston Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Clouston Syndrome:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
2 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
3 craniofacial hyperostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004493
4 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
5 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
6 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
7 palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0000982
8 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
9 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
10 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
11 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
12 hypotrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0001006
13 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
14 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
15 fine hair 59 32 frequent (33%) Frequent (79-30%) HP:0002213
16 clubbing of toes 59 32 occasional (7.5%) Occasional (29-5%) HP:0100760
17 nail dysplasia 59 32 Very frequent (99-80%) HP:0002164
18 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
19 sparse eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000653
20 abnormality of nail color 59 32 hallmark (90%) Very frequent (99-80%) HP:0100643
21 sparse pubic hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002225
22 hyperconvex nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001795
23 thick nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001805
24 onycholysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001806
25 fragile nails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001808
26 sparse axillary hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002215
27 abnormality of the dentition 32 HP:0000164
28 nail dystrophy 32 HP:0008404
29 blepharitis 32 HP:0000498
30 small nail 32 HP:0001792
31 conjunctivitis 32 HP:0000509
32 sparse hair 59 Frequent (79-30%)
33 slow-growing hair 32 HP:0002217
34 sparse eyebrow 59 Frequent (79-30%)
35 hyperpigmentation of the skin 32 HP:0000953
36 abnormality of the nasolacrimal system 59 Occasional (29-5%)
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 abnormal nasolacrimal system morphology 32 occasional (7.5%) HP:0000614
44 sparse and thin eyebrow 32 frequent (33%) HP:0000535

UMLS symptoms related to Clouston Syndrome:


photophobia

MGI Mouse Phenotypes related to Clouston Syndrome:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.18 GJB2 TP63 WNT10A ANTXR1 EDAR EDARADD
2 cellular MP:0005384 10.15 ANTXR1 EDAR EVC EVC2 FGF9 GJA1
3 growth/size/body region MP:0005378 10.13 ANTXR1 WNT10A EDAR EDARADD EVC EVC2
4 cardiovascular system MP:0005385 10.11 ANTXR1 EDAR FGF9 GJA1 GJB2 GJB3
5 endocrine/exocrine gland MP:0005379 10.06 ANTXR1 EDAR EDARADD FGF9 GJA1 GJB6
6 integument MP:0010771 10.02 TP63 WNT10A EDAR EDARADD FGF9 GJA1
7 limbs/digits/tail MP:0005371 9.97 EDAR EDARADD EVC EVC2 FGF9 GJA1
8 reproductive system MP:0005389 9.81 ANTXR1 EDAR EDARADD EVC FGF9 GJA1
9 hearing/vestibular/ear MP:0005377 9.8 GJB6 EDARADD FGF9 GJA1 GJB2
10 no phenotypic analysis MP:0003012 9.73 ANTXR1 GJA1 GJB2 GJB3 GJB6 TP63
11 skeleton MP:0005390 9.65 ANTXR1 EDAR EDARADD EVC EVC2 FGF9
12 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 29 GJB6

Anatomical Context for Clouston Syndrome

MalaCards organs/tissues related to Clouston Syndrome:

41
Skin

Publications for Clouston Syndrome

Articles related to Clouston Syndrome:

(show all 30)
# Title Authors Year
1
Do you know this syndrome? Clouston syndrome. ( 29186264 )
2017
2
Identification of<i>GJB6</i>gene mutation in an Indian man with Clouston syndrome. ( 27643550 )
2016
3
Immune system disturbances in Clouston syndrome. ( 26551294 )
2016
4
Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes. ( 26810281 )
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:

75
# 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 72)
# 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.31G> A (p.Gly11Arg) single nucleotide variant Pathogenic rs104894415 GRCh38 Chromosome 13, 20223450: 20223450
3 GJB6 NM_006783.4(GJB6): c.263C> T (p.Ala88Val) single nucleotide variant Pathogenic rs28937872 GRCh37 Chromosome 13, 20797357: 20797357
4 GJB6 NM_006783.4(GJB6): c.263C> T (p.Ala88Val) single nucleotide variant Pathogenic rs28937872 GRCh38 Chromosome 13, 20223218: 20223218
5 GJB6 NM_006783.4(GJB6): c.110T> A (p.Val37Glu) single nucleotide variant Pathogenic rs104894416 GRCh37 Chromosome 13, 20797510: 20797510
6 GJB6 NM_006783.4(GJB6): c.110T> A (p.Val37Glu) single nucleotide variant Pathogenic rs104894416 GRCh38 Chromosome 13, 20223371: 20223371
7 GJB6 NM_006783.4(GJB6): c.209C> T (p.Pro70Leu) single nucleotide variant Uncertain significance rs727505123 GRCh37 Chromosome 13, 20797411: 20797411
8 GJB6 NM_006783.4(GJB6): c.209C> T (p.Pro70Leu) single nucleotide variant Uncertain significance rs727505123 GRCh38 Chromosome 13, 20223272: 20223272
9 GJB6 NM_006783.4(GJB6): c.339T> A (p.Asn113Lys) single nucleotide variant Benign rs143766955 GRCh37 Chromosome 13, 20797281: 20797281
10 GJB6 NM_006783.4(GJB6): c.339T> A (p.Asn113Lys) single nucleotide variant Benign rs143766955 GRCh38 Chromosome 13, 20223142: 20223142
11 GJB6 NM_006783.4(GJB6): c.177A> G (p.Gly59=) single nucleotide variant Uncertain significance rs371123633 GRCh37 Chromosome 13, 20797443: 20797443
12 GJB6 NM_006783.4(GJB6): c.177A> G (p.Gly59=) single nucleotide variant Uncertain significance rs371123633 GRCh38 Chromosome 13, 20223304: 20223304
13 GJB6 NM_006783.4(GJB6): c.680C> T (p.Thr227Met) single nucleotide variant Uncertain significance rs199790650 GRCh38 Chromosome 13, 20222801: 20222801
14 GJB6 NM_006783.4(GJB6): c.680C> T (p.Thr227Met) single nucleotide variant Uncertain significance rs199790650 GRCh37 Chromosome 13, 20796940: 20796940
15 GJB6 NM_006783.4(GJB6): c.60C> T (p.Ile20=) single nucleotide variant Uncertain significance rs778513540 GRCh38 Chromosome 13, 20223421: 20223421
16 GJB6 NM_006783.4(GJB6): c.60C> T (p.Ile20=) single nucleotide variant Uncertain significance rs778513540 GRCh37 Chromosome 13, 20797560: 20797560
17 GJB6 NM_006783.4(GJB6): c.-122T> C single nucleotide variant Uncertain significance rs886050031 GRCh38 Chromosome 13, 20229686: 20229686
18 GJB6 NM_006783.4(GJB6): c.-122T> C single nucleotide variant Uncertain significance rs886050031 GRCh37 Chromosome 13, 20803825: 20803825
19 GJB6 NM_006783.4(GJB6): c.-227C> T single nucleotide variant Uncertain significance rs55901410 GRCh38 Chromosome 13, 20230907: 20230907
20 GJB6 NM_006783.4(GJB6): c.-227C> T single nucleotide variant Uncertain significance rs55901410 GRCh37 Chromosome 13, 20805046: 20805046
21 GJB6 NM_006783.4(GJB6): c.-256G> A single nucleotide variant Uncertain significance rs539881427 GRCh37 Chromosome 13, 20805075: 20805075
22 GJB6 NM_006783.4(GJB6): c.-256G> A single nucleotide variant Uncertain significance rs539881427 GRCh38 Chromosome 13, 20230936: 20230936
23 GJB6 NM_006783.4(GJB6): c.-346G> A single nucleotide variant Likely benign rs7333727 GRCh38 Chromosome 13, 20231026: 20231026
24 GJB6 NM_006783.4(GJB6): c.-346G> A single nucleotide variant Likely benign rs7333727 GRCh37 Chromosome 13, 20805165: 20805165
25 GJB6 NM_006783.4(GJB6): c.*559C> T single nucleotide variant Uncertain significance rs886050029 GRCh38 Chromosome 13, 20222136: 20222136
26 GJB6 NM_006783.4(GJB6): c.*559C> T single nucleotide variant Uncertain significance rs886050029 GRCh37 Chromosome 13, 20796275: 20796275
27 GJB6 NM_006783.4(GJB6): c.*25C> T single nucleotide variant Uncertain significance rs112845420 GRCh38 Chromosome 13, 20222670: 20222670
28 GJB6 NM_006783.4(GJB6): c.*25C> T single nucleotide variant Uncertain significance rs112845420 GRCh37 Chromosome 13, 20796809: 20796809
29 GJB6 NM_006783.4(GJB6): c.666A> G (p.Ser222=) single nucleotide variant Uncertain significance rs138571061 GRCh38 Chromosome 13, 20222815: 20222815
30 GJB6 NM_006783.4(GJB6): c.666A> G (p.Ser222=) single nucleotide variant Uncertain significance rs138571061 GRCh37 Chromosome 13, 20796954: 20796954
31 GJB6 NM_006783.4(GJB6): c.-3G> A single nucleotide variant Uncertain significance rs372835743 GRCh38 Chromosome 13, 20223483: 20223483
32 GJB6 NM_006783.4(GJB6): c.-3G> A single nucleotide variant Uncertain significance rs372835743 GRCh37 Chromosome 13, 20797622: 20797622
33 GJB6 NM_006783.4(GJB6): c.-105T> A single nucleotide variant Likely benign rs114639494 GRCh38 Chromosome 13, 20229669: 20229669
34 GJB6 NM_006783.4(GJB6): c.-105T> A single nucleotide variant Likely benign rs114639494 GRCh37 Chromosome 13, 20803808: 20803808
35 GJB6 NM_006783.4(GJB6): c.-178C> T single nucleotide variant Uncertain significance rs886050034 GRCh38 Chromosome 13, 20229742: 20229742
36 GJB6 NM_006783.4(GJB6): c.-178C> T single nucleotide variant Uncertain significance rs886050034 GRCh37 Chromosome 13, 20803881: 20803881
37 GJB6 NM_006783.4(GJB6): c.-226A> C single nucleotide variant Uncertain significance rs886050035 GRCh38 Chromosome 13, 20230906: 20230906
38 GJB6 NM_006783.4(GJB6): c.-226A> C single nucleotide variant Uncertain significance rs886050035 GRCh37 Chromosome 13, 20805045: 20805045
39 GJB6 NM_006783.4(GJB6): c.-337G> A single nucleotide variant Uncertain significance rs61058739 GRCh38 Chromosome 13, 20231017: 20231017
40 GJB6 NM_006783.4(GJB6): c.-337G> A single nucleotide variant Uncertain significance rs61058739 GRCh37 Chromosome 13, 20805156: 20805156
41 GJB6 NM_006783.4(GJB6): c.-419T> C single nucleotide variant Uncertain significance rs886050037 GRCh38 Chromosome 13, 20231099: 20231099
42 GJB6 NM_006783.4(GJB6): c.-419T> C single nucleotide variant Uncertain significance rs886050037 GRCh37 Chromosome 13, 20805238: 20805238
43 GJB6 NM_006783.4(GJB6): c.*714C> T single nucleotide variant Uncertain significance rs76179836 GRCh38 Chromosome 13, 20221981: 20221981
44 GJB6 NM_006783.4(GJB6): c.*714C> T single nucleotide variant Uncertain significance rs76179836 GRCh37 Chromosome 13, 20796120: 20796120
45 GJB6 NM_006783.4(GJB6): c.*628G> T single nucleotide variant Uncertain significance rs577545882 GRCh38 Chromosome 13, 20222067: 20222067
46 GJB6 NM_006783.4(GJB6): c.*628G> T single nucleotide variant Uncertain significance rs577545882 GRCh37 Chromosome 13, 20796206: 20796206
47 GJB6 NM_006783.4(GJB6): c.*337G> T single nucleotide variant Likely benign rs7333214 GRCh38 Chromosome 13, 20222358: 20222358
48 GJB6 NM_006783.4(GJB6): c.*337G> T single nucleotide variant Likely benign rs7333214 GRCh37 Chromosome 13, 20796497: 20796497
49 GJB6 NM_006783.4(GJB6): c.*301G> C single nucleotide variant Likely benign rs112723181 GRCh38 Chromosome 13, 20222394: 20222394
50 GJB6 NM_006783.4(GJB6): c.*301G> C single nucleotide variant Likely benign rs112723181 GRCh37 Chromosome 13, 20796533: 20796533

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

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 aging GO:0007568 9.72 GJB2 GJB6 TP63
3 positive regulation of gene expression GO:0010628 9.72 EDA EDAR FGF9 GJA1 WNT10A
4 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.71 EDA EDAR GJA1
5 tumor necrosis factor-mediated signaling pathway GO:0033209 9.63 EDA EDAR EDARADD
6 odontogenesis of dentin-containing tooth GO:0042475 9.58 EDA EDAR TP63
7 positive regulation of smoothened signaling pathway GO:0045880 9.56 EVC FGF9
8 positive regulation of mesenchymal cell proliferation GO:0002053 9.52 FGF9 TP63
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 9.43 EDA GJB3 WNT10A
13 salivary gland cavitation GO:0060662 9.37 EDA EDAR
14 epididymis development GO:1905867 9.16 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
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10 dbSNP
11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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