CTRCT1
MCID: CTR098
MIFTS: 46

Cataract 1, Multiple Types (CTRCT1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cataract 1, Multiple Types

MalaCards integrated aliases for Cataract 1, Multiple Types:

Name: Cataract 1, Multiple Types 56 73 13
Cataract 1, Multiple Types, with or Without Microcornea 56 12 73
Ctrct1 56 12 73
Czp1 56 12 73
Pulverulent Zonular Cataract 73 54
Cataract 1 Multiple Types 12 15
Cae1 12 73
Cataract, Zonular Pulverulent, 1; Czp1; Czp; Cae1 56
Zonular Nuclear Pulverulent Cataract 73
Cataract, Zonular Pulverulent, 1 56
Cataract, Zonular Pulverulent 1 71
Zonular Pulverulent Cataract 1 12
Cataract Zonular Pulverulent 1 73
Cataract Microcornea Syndrome 71
Cataract-Microcornea Syndrome 73
Zonular Pulverulent Cataract 6
Cataract, Duffy-Linked 56
Duffy Linked Cataract 12
Cataract Duffy-Linked 73
Ccmc 73
Cznp 73
Czp 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cataract 1, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110231
OMIM 56 116200
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0
MedGen 41 C1861828
UMLS 71 C1861828 C1861829

Summaries for Cataract 1, Multiple Types

UniProtKB/Swiss-Prot : 73 Cataract 1, multiple types: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

MalaCards based summary : Cataract 1, Multiple Types, also known as cataract 1, multiple types, with or without microcornea, is related to cataract microcornea syndrome and cataract 14, multiple types. An important gene associated with Cataract 1, Multiple Types is GJA8 (Gap Junction Protein Alpha 8), and among its related pathways/superpathways are NRF2 pathway and the visual cycle I (vertebrates). The drugs Metformin and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and cortex, and related phenotypes are cataract and microcornea

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.

OMIM : 56 Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene. Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1. (116200)

Related Diseases for Cataract 1, Multiple Types

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 40 Cataract 10, Multiple Types
Cataract 24 Cataract 3, Multiple Types
Cataract 14, Multiple Types Cataract 9, Multiple Types
Cataract 2, Multiple Types Cataract 31, Multiple Types
Cataract 25 Cataract 26, Multiple Types
Cataract 27 Cataract 28
Cataract 35 Cataract 22, Multiple Types
Cataract 18 Cataract 21, Multiple Types
Cataract 23, Multiple Types Cataract 11, Multiple Types
Cataract 33, Multiple Types Cataract 17, Multiple Types
Cataract 12, Multiple Types Cataract 47
Cataract 34, Multiple Types Cataract 16, Multiple Types
Cataract 36 Cataract 37
Cataract 38 Cataract 39, Multiple Types
Cataract 15, Multiple Types Cataract 19, Multiple Types
Cataract 43 Cataract 44
Cataract 45 Cataract 48
Cataract 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

Diseases related to Cataract 1, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 cataract microcornea syndrome 34.7 GJA8 CRYAA
2 cataract 14, multiple types 33.9 GJA8 GJA3 GABRG2
3 cataract 9, multiple types 33.0 GJA8 CRYAA
4 cataract 2, multiple types 11.9
5 macular dystrophy with central cone involvement 10.7
6 cataract 10.6
7 microphthalmia 10.4
8 early-onset non-syndromic cataract 10.3
9 hereditary lymphedema ic 10.3 GJA8 GJA3
10 chronic pain 10.3
11 pik3ca-related overgrowth syndrome 10.3
12 cataract 30, multiple types 10.3 GJA8 GJA3
13 hallermann-streiff syndrome 10.2 GJA3 CRYAA
14 early onset absence epilepsy 10.2 GJA8 GABRG2
15 cataract 44 10.2 GJA8 CRYAA
16 epilepsy with generalized tonic-clonic seizures 10.2 GJA8 GABRG2
17 yemenite deaf-blind hypopigmentation syndrome 10.2
18 cataract 21, multiple types 10.2
19 cataract 17, multiple types 10.2
20 fibrosarcoma 10.2
21 juvenile absence epilepsy 10.2 GJA8 GABRG2
22 sclerocornea 10.2 GJA8 CRYAA
23 posterior polar cataract 10.1 GJA3 CRYAA
24 oculodentodigital dysplasia 10.1 GJA8 GJA3
25 adolescence-adult electroclinical syndrome 10.1 GJA8 GABRG2
26 photosensitive epilepsy 10.1 GJA8 GABRG2
27 early-onset nuclear cataract 10.0 GJA8 GJA3 CRYAA
28 congenital nystagmus 10.0 GJA8 CRYAA
29 erythrokeratodermia variabilis et progressiva 1 10.0 GJA8 GJA3 CRYAA
30 lens disease 10.0 GJA8 GJA3 CRYAA
31 electroclinical syndrome 10.0 GJA8 GABRG2 CRYAA
32 childhood electroclinical syndrome 10.0 GJA8 GABRG2
33 amblyopia 9.7 GJA3 CRYAA
34 large intestine adenoma 9.7 CES2 CES1
35 polycystic echinococcosis 9.7 CES2 CES1
36 cystic echinococcosis 9.7 CES2 CES1
37 echinococcosis 9.7 CES2 CES1
38 taeniasis 9.7 CES2 CES1
39 alveolar echinococcosis 9.6 CES2 CES1
40 parasitic helminthiasis infectious disease 9.4 CES2 CES1

Graphical network of the top 20 diseases related to Cataract 1, Multiple Types:



Diseases related to Cataract 1, Multiple Types

Symptoms & Phenotypes for Cataract 1, Multiple Types

Human phenotypes related to Cataract 1, Multiple Types:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 cataract 31 hallmark (90%) HP:0000518
2 microcornea 31 occasional (7.5%) HP:0000482
3 myopia 31 frequent (33%) HP:0000545
4 corneal opacity 31 occasional (7.5%) HP:0007957
5 nystagmus 31 occasional (7.5%) HP:0000639
6 corneal dystrophy 31 occasional (7.5%) HP:0001131
7 iris coloboma 31 occasional (7.5%) HP:0000612
8 developmental cataract 31 HP:0000519
9 posterior subcapsular cataract 31 HP:0007787
10 nuclear cataract 31 HP:0100018
11 pulverulent cataract 31 HP:0010693

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
posterior subcapsular cataract
nuclear cataract
congenital cataract
pulverulent zonular cataract
stellate nuclear cataract
more

Clinical features from OMIM:

116200

GenomeRNAi Phenotypes related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.47 CES1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.47 CES1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.47 CES1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.47 CES1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.47 CRYAA
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-183 9.47 CRYAA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.47 CRYAA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.47 CRYAA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.47 CES5A
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.47 CRYAA
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.47 CRYAA
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-8 9.47 CES5A
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 9.47 CES1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.47 CES1
15 Decreased nuclei size in G2M GR00096-A 8.65 CES1

Drugs & Therapeutics for Cataract 1, Multiple Types

Drugs for Cataract 1, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
2 Hypoglycemic Agents Phase 2, Phase 3
3 Adrenergic beta-Agonists
4 Adrenergic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Metformin in Alzheimer's Dementia Prevention Not yet recruiting NCT04098666 Phase 2, Phase 3 Placebo oral tablet;extended release metformin
2 Pilot Yoga Intervention to Improve Pediatric Cancer Patients' Sleep & Life Quality and Parents' Well-Being Completed NCT02899117
3 Rx for Success: A Randomized Controlled Trial of Technology-Based Dialogic Reading Training Completed NCT03828721
4 Pain and Weight Treatment: Development and Trial of PAW Recruiting NCT04046562
5 Interagency Collaboration To Improve Home Care of Children With Medical Complexity. Recruiting NCT03978468
6 The Genetics of Severe Asthma in Children Recruiting NCT01238432
7 Integrated Basis and Translational Approaches to Identify Early Biomarkers and Pathogenesis of Anthracycline Cardiotoxicity Not yet recruiting NCT04036045

Search NIH Clinical Center for Cataract 1, Multiple Types

Genetic Tests for Cataract 1, Multiple Types

Anatomical Context for Cataract 1, Multiple Types

MalaCards organs/tissues related to Cataract 1, Multiple Types:

40
Eye, Cortex

Publications for Cataract 1, Multiple Types

Articles related to Cataract 1, Multiple Types:

(show all 23)
# Title Authors PMID Year
1
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. 6 54 61 56
9497259 1998
2
Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. 56 6 54
11846744 2001
3
Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. 56 6 54
10480374 1999
4
Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract. 6 56
21174522 2011
5
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. 6 56
18006672 2008
6
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 56 6
17724170 2007
7
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. 6 56
16604058 2006
8
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. 6 56
14627691 2003
9
PROBABLE LINKAGE BETWEEN A CONGENITAL CATARACT LOCUS AND THE DUFFY BLOOD GROUP LOCUS. 6 56
14059288 1963
10
Transgenic overexpression of connexin50 induces cataracts. 56
17217947 2007
11
The genetics of cataract: our vision becomes clearer. 56
9497271 1998
12
An unusual pedigree with microcornea-cataract syndrome. 56
8558562 1995
13
Is there an X-linked form of congenital cataracts? 56
7116682 1982
14
Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies. 56
752489 1978
15
Eyes on chromosomes. 56
5489092 1970
16
Probable assignment of the Duffy blood group locus to chromosome 1 in man. 56
5246559 1968
17
Congenital cataract. 56
13530096 1957
18
Hereditary cataract in two families. 56
13292280 1955
19
[Not Available]. 56
21010647 1945
20
[Development of semisolid dosage form of clonazepam for oral cavity administration]. 61
20046075 2010
21
A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family. 54
16885921 2006
22
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). 54
10746562 2000
23
Connexin46 mutations in autosomal dominant congenital cataract. 61
10205266 1999

Variations for Cataract 1, Multiple Types

ClinVar genetic disease variations for Cataract 1, Multiple Types:

6 (show top 50) (show all 70) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJA8 NM_005267.5(GJA8):c.827C>T (p.Ser276Phe)SNV Pathogenic 427758 rs45619342 1:147380909-147380909 1:147908782-147908782
2 GJA8 NM_005267.5(GJA8):c.262C>G (p.Pro88Ala)SNV Pathogenic 650108 1:147380344-147380344 1:147908217-147908217
3 GJA8 NM_005267.5(GJA8):c.153C>G (p.Asp51Glu)SNV Pathogenic 574353 rs1307969607 1:147380235-147380235 1:147908108-147908108
4 GJA8 NC_000001.10:g.(?_147380063)_(147381404_?)deldeletion Pathogenic 833373 1:147380063-147381404
5 GJA8 NM_005267.5(GJA8):c.134G>T (p.Trp45Leu)SNV Pathogenic 845873 1:147380216-147380216 1:147908089-147908089
6 GJA8 NM_005267.5(GJA8):c.602A>G (p.Glu201Gly)SNV Pathogenic 861618 1:147380684-147380684 1:147908557-147908557
7 GJA8 NM_005267.5(GJA8):c.593G>A (p.Arg198Gln)SNV Pathogenic 8726 rs80358205 1:147380675-147380675 1:147908548-147908548
8 GJA8 NM_005267.5(GJA8):c.139G>A (p.Asp47Asn)SNV Pathogenic 8727 rs121434643 1:147380221-147380221 1:147908094-147908094
9 GJA8 NM_005267.5(GJA8):c.131T>A (p.Val44Glu)SNV Pathogenic 8725 rs80358204 1:147380213-147380213 1:147908086-147908086
10 GJA8 NM_005267.5(GJA8):c.262C>T (p.Pro88Ser)SNV Pathogenic 8721 rs80358200 1:147380344-147380344 1:147908217-147908217
11 GJA8 NM_005267.5(GJA8):c.142G>A (p.Glu48Lys)SNV Pathogenic 8722 rs80358201 1:147380224-147380224 1:147908097-147908097
12 GJA8 NM_005267.5(GJA8):c.68G>C (p.Arg23Thr)SNV Pathogenic 8724 rs80358203 1:147380150-147380150 1:147908023-147908023
13 GJA8 NM_005267.5(GJA8):c.566C>T (p.Pro189Leu)SNV Pathogenic 68465 rs397515627 1:147380648-147380648 1:147908521-147908521
14 GJA8 NM_005267.5(GJA8):c.134G>C (p.Trp45Ser)SNV Pathogenic 217335 rs864309688 1:147380216-147380216 1:147908089-147908089
15 GJA8 NM_005267.5(GJA8):c.385G>A (p.Val129Ile)SNV Conflicting interpretations of pathogenicity 292466 rs142415337 1:147380467-147380467 1:147908340-147908340
16 GJA8 NM_005267.5(GJA8):c.875T>C (p.Leu292Pro)SNV Uncertain significance 292468 rs886045255 1:147380957-147380957 1:147908830-147908830
17 GJA8 NM_005267.5(GJA8):c.994G>A (p.Glu332Lys)SNV Uncertain significance 292470 rs143688085 1:147381076-147381076 1:147908949-147908949
18 GJA3 NM_021954.4(GJA3):c.*3393deldeletion Uncertain significance 311283 rs886050003 13:20712727-20712727 13:20138588-20138588
19 GJA3 NM_021954.4(GJA3):c.780G>A (p.Arg260=)SNV Uncertain significance 311342 rs764418101 13:20716648-20716648 13:20142509-20142509
20 GJA3 NM_021954.4(GJA3):c.*1565A>GSNV Uncertain significance 311305 rs886050012 13:20714555-20714555 13:20140416-20140416
21 GJA3 NM_021954.4(GJA3):c.*553C>TSNV Uncertain significance 311321 rs886050016 13:20715567-20715567 13:20141428-20141428
22 GJA3 NM_021954.4(GJA3):c.*420_*434delinsATAGAindel Uncertain significance 311324 rs886050017 13:20715686-20715700 13:20141547-20141561
23 GJA8 NM_005267.5(GJA8):c.1096G>A (p.Val366Met)SNV Uncertain significance 292472 rs782056871 1:147381178-147381178 1:147909051-147909051
24 GJA8 NM_005267.5(GJA8):c.300C>T (p.Val100=)SNV Uncertain significance 292465 rs886045254 1:147380382-147380382 1:147908255-147908255
25 GJA8 NM_005267.5(GJA8):c.678C>A (p.His226Gln)SNV Uncertain significance 292467 rs201476382 1:147380760-147380760 1:147908633-147908633
26 GJA8 NM_005267.5(GJA8):c.1296C>T (p.Thr432=)SNV Uncertain significance 875174 1:147381378-147381378 1:147909251-147909251
27 GJA8 NM_005267.5(GJA8):c.1274G>C (p.Arg425Pro)SNV Uncertain significance 875173 1:147381356-147381356 1:147909229-147909229
28 GJA8 NM_005267.5(GJA8):c.1163C>T (p.Ser388Leu)SNV Uncertain significance 875172 1:147381245-147381245 1:147909118-147909118
29 GJA8 NM_005267.5(GJA8):c.670T>C (p.Leu224=)SNV Uncertain significance 877037 1:147380752-147380752 1:147908625-147908625
30 GJA8 NM_005267.5(GJA8):c.665T>C (p.Met222Thr)SNV Uncertain significance 877036 1:147380747-147380747 1:147908620-147908620
31 GJA8 NM_005267.5(GJA8):c.-43A>GSNV Uncertain significance 875122 1:147374956-147374956 1:147902830-147902830
32 GJA8 NM_005267.5(GJA8):c.1069A>G (p.Thr357Ala)SNV Uncertain significance 292471 rs782584748 1:147381151-147381151 1:147909024-147909024
33 GJA8 NM_005267.5(GJA8):c.58G>A (p.Val20Ile)SNV Uncertain significance 292462 rs782298787 1:147380140-147380140 1:147908013-147908013
34 GJA8 NM_005267.5(GJA8):c.183C>T (p.Cys61=)SNV Uncertain significance 292463 rs782213276 1:147380265-147380265 1:147908138-147908138
35 GJA8 NM_005267.5(GJA8):c.285C>T (p.His95=)SNV Uncertain significance 292464 rs886045253 1:147380367-147380367 1:147908240-147908240
36 GJA8 NM_005267.5(GJA8):c.1016A>T (p.Glu339Val)SNV Uncertain significance 857879 1:147381098-147381098 1:147908971-147908971
37 GJA8 NM_005267.5(GJA8):c.1126G>A (p.Gly376Arg)SNV Uncertain significance 842697 1:147381208-147381208 1:147909081-147909081
38 GJA8 NM_005267.5(GJA8):c.-11-4T>GSNV Uncertain significance 876076 1:147380068-147380068 1:147907941-147907941
39 GJA8 NM_005267.5(GJA8):c.176C>T (p.Pro59Leu)SNV Uncertain significance 842078 1:147380258-147380258 1:147908131-147908131
40 GJA8 NM_005267.5(GJA8):c.197A>C (p.Tyr66Ser)SNV Uncertain significance 850845 1:147380279-147380279 1:147908152-147908152
41 GJA8 NM_005267.5(GJA8):c.481T>G (p.Phe161Val)SNV Uncertain significance 568989 rs1558009685 1:147380563-147380563 1:147908436-147908436
42 GJA8 NM_005267.5(GJA8):c.196T>C (p.Tyr66His)SNV Uncertain significance 655801 1:147380278-147380278 1:147908151-147908151
43 GJA8 NM_005267.5(GJA8):c.317G>A (p.Arg106His)SNV Uncertain significance 655767 1:147380399-147380399 1:147908272-147908272
44 GJA8 NM_005267.5(GJA8):c.839C>T (p.Pro280Leu)SNV Uncertain significance 663324 1:147380921-147380921 1:147908794-147908794
45 GJA8 NM_005267.5(GJA8):c.151G>C (p.Asp51His)SNV Uncertain significance 446264 rs864309703 1:147380233-147380233 1:147908106-147908106
46 GJA8 NM_005267.5(GJA8):c.487G>A (p.Val163Met)SNV Uncertain significance 468226 rs374680617 1:147380569-147380569 1:147908442-147908442
47 GJA8 NM_005267.5(GJA8):c.97C>T (p.Arg33Trp)SNV Uncertain significance 468227 rs587710840 1:147380179-147380179 1:147908052-147908052
48 GJA8 NM_005267.5(GJA8):c.67A>G (p.Arg23Gly)SNV Uncertain significance 568964 rs1558009094 1:147380149-147380149 1:147908022-147908022
49 GJA8 NM_005267.5(GJA8):c.19C>A (p.Leu7Met)SNV Likely benign 772629 1:147380101-147380101 1:147907974-147907974
50 GJA8 NM_005267.5(GJA8):c.933C>T (p.Asp311=)SNV Likely benign 753201 1:147381015-147381015 1:147908888-147908888

UniProtKB/Swiss-Prot genetic disease variations for Cataract 1, Multiple Types:

73
# Symbol AA change Variation ID SNP ID
1 GJA8 p.Pro88Ser VAR_002005 rs80358200
2 GJA8 p.Val64Gly VAR_037642
3 GJA8 p.Arg23Thr VAR_038797 rs80358203
4 GJA8 p.Val44Glu VAR_038798 rs80358204
5 GJA8 p.Glu48Lys VAR_038799 rs80358201
6 GJA8 p.Arg198Gln VAR_038800 rs80358205
7 GJA8 p.Asp47Asn VAR_069579 rs121434643
8 GJA8 p.Asp67Gly VAR_070021
9 GJA8 p.Arg76Cys VAR_070022

Expression for Cataract 1, Multiple Types

Search GEO for disease gene expression data for Cataract 1, Multiple Types.

Pathways for Cataract 1, Multiple Types

GO Terms for Cataract 1, Multiple Types

Cellular components related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.65 CES5A CES4A CES3 CES2 CES1
2 endoplasmic reticulum lumen GO:0005788 9.33 CES3 CES2 CES1
3 gap junction GO:0005921 8.96 GJA8 GJA3
4 connexin complex GO:0005922 8.62 GJA8 GJA3

Biological processes related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 xenobiotic metabolic process GO:0006805 9.33 CES3 CES2 CES1
2 cell communication GO:0007154 9.26 GJA8 GJA3
3 lipid catabolic process GO:0016042 9.02 CES5A CES4A CES3 CES2 CES1
4 gap junction-mediated intercellular transport GO:1990349 8.96 GJA8 GJA3

Molecular functions related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 CES5A CES4A CES3 CES2 CES1
2 carboxylic ester hydrolase activity GO:0052689 9.65 CES5A CES4A CES3 CES2 CES1
3 triglyceride lipase activity GO:0004806 9.55 CES5A CES4A CES3 CES2 CES1
4 gap junction channel activity GO:0005243 9.37 GJA8 GJA3
5 methylumbelliferyl-acetate deacetylase activity GO:0047374 9.32 CES2 CES1
6 methyl indole-3-acetate esterase activity GO:0080030 9.26 CES5A CES3 CES2 CES1
7 sterol esterase activity GO:0004771 9.02 CES5A CES4A CES3 CES2 CES1

Sources for Cataract 1, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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