MCID: CTR014
MIFTS: 35

Cataract Microcornea Syndrome

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Cataract Microcornea Syndrome

MalaCards integrated aliases for Cataract Microcornea Syndrome:

Name: Cataract Microcornea Syndrome 20 6 70
Microcornea Cataract Syndrome 20
Cataract-Microcornea Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
cataract-microcornea syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

MESH via Orphanet 45 C538287
ICD10 via Orphanet 33 Q13.8
UMLS via Orphanet 71 C1861829
Orphanet 58 ORPHA1377
UMLS 70 C1861829

Summaries for Cataract Microcornea Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1377 Definition Cataract -microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Epidemiology To date, more than 15 families showing microcornea-cataract syndrome have been described. Clinical description Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life. Microcornea-cataract syndrome can be associated with other rare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly (see this term). Etiology There is marked genetic heterogeneity. Mutations have been described in several crystallin genes ( CRYAA, CRYBB1, CRYGD ), and in the gap junction protein alpha 8 gene ( GJA8 ). Diagnostic methods Ophthalmologic and general examination allows other syndromes to be excluded. Genetic counseling Transmission is in most cases autosomal dominant, but cases of autosomal recessive transmission have recently been described. Management and treatment Cataract surgery has to be performed in order to restore visual acuity and avoid amblyopia. Prognosis Visual acuity after uncomplicated cataract extraction is relatively good.

MalaCards based summary : Cataract Microcornea Syndrome, also known as microcornea cataract syndrome, is related to cataract 1, multiple types and cataract 9, multiple types. An important gene associated with Cataract Microcornea Syndrome is GJA8 (Gap Junction Protein Alpha 8). Affiliated tissues include eye, and related phenotypes are cataract and microcornea

Wikipedia : 73 The cataract-microcornea syndrome is the association of congenital cataract and... more...

Related Diseases for Cataract Microcornea Syndrome

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 cataract 1, multiple types 32.5 GJA8 CRYAA
2 cataract 9, multiple types 31.4 GJA8 CRYBB2 CRYBB1 CRYAA
3 cataract 21, multiple types 30.2 MAF CRYAA
4 cataract 17, multiple types 29.9 CRYBB1 CRYBA4
5 early-onset non-syndromic cataract 29.0 MAF LOC100507443 CRYGC CRYBB1 CRYBA4
6 cataract 28.0 MAF LOC100507443 GJA8 CRYGD CRYGC CRYBB2
7 immature cataract 10.2 GJA8 CRYAA
8 triosephosphate isomerase deficiency 10.1 CRYBB1 CRYAA
9 ayme-gripp syndrome 10.1 MAF CRYAA
10 early-onset sutural cataract 10.1 GJA8 CRYBB2
11 sclerocornea 10.1 GJA8 CRYAA
12 congenital nystagmus 10.0 GJA8 CRYAA
13 yemenite deaf-blind hypopigmentation syndrome 10.0
14 fibrosarcoma 10.0
15 presbyopia 10.0 CRYGD CRYAA
16 posterior polar cataract 10.0 CRYGD CRYAA
17 cataract 44 9.9 GJA8 CRYBB2 CRYAA
18 erythrokeratodermia variabilis et progressiva 1 9.9 GJA8 CRYBB2 CRYAA
19 nuclear senile cataract 9.9 CRYGD CRYGC
20 cataract 2, multiple types 9.9 LOC100507443 CRYGC
21 microphthalmia, isolated 1 9.9 CRYBB1 CRYBA4
22 cataract congenital dominant non nuclear 9.9 LOC100507443 CRYGD
23 joubert syndrome 17 9.9 LOC100507443 CRYGD
24 cerulean cataract 9.9 MAF CRYGD CRYBB2
25 microphthalmia, syndromic 2 9.8 CRYBA4 CRYAA
26 lens subluxation 9.8 CRYBA4 CRYAA
27 amblyopia 9.7 GJA8 CRYGD CRYBB1 CRYAA
28 syndromic microphthalmia 9.7 CRYBA4 CRYAA
29 mature cataract 9.7 GJA8 CRYGD CRYBB2 CRYAA
30 coloboma of macula 9.7 MAF CRYBA4 CRYAA
31 retinal perforation 9.7 CRYBB2 CRYBA4 CRYAA
32 porencephaly 9.7 CRYBA4 CRYAA
33 axenfeld-rieger syndrome, type 3 9.6 MAF GJA8 CRYBB2 CRYBB1 CRYAA
34 cataract 4, multiple types 9.6 LOC100507443 CRYGD
35 abruzzo-erickson syndrome 9.5 CRYBB2 CRYBB1 CRYBA4 CRYAA
36 anterior segment dysgenesis 9.4 MAF GJA8 CRYBB1 CRYBA4 CRYAA
37 early-onset lamellar cataract 9.4 CRYGD CRYGC CRYBA4 CRYAA
38 cataract 30, multiple types 9.3 MAF GJA8 CRYGD CRYGC CRYBB2 CRYBB1
39 early-onset nuclear cataract 9.2 GJA8 CRYGD CRYGC CRYBB2 CRYBB1 CRYAA
40 aniridia 1 9.2 MAF GJA8 CRYBB2 CRYBB1 CRYBA4 CRYAA
41 nance-horan syndrome 9.1 GJA8 CRYGD CRYBB2 CRYBB1 CRYBA4 CRYAA
42 lens disease 9.1 GJA8 CRYGD CRYBB2 CRYBB1 CRYBA4 CRYAA

Graphical network of the top 20 diseases related to Cataract Microcornea Syndrome:



Diseases related to Cataract Microcornea Syndrome

Symptoms & Phenotypes for Cataract Microcornea Syndrome

Human phenotypes related to Cataract Microcornea Syndrome:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 microcornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000482
3 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
4 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
5 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
6 corneal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001131
7 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612

Drugs & Therapeutics for Cataract Microcornea Syndrome

Search Clinical Trials , NIH Clinical Center for Cataract Microcornea Syndrome

Genetic Tests for Cataract Microcornea Syndrome

Anatomical Context for Cataract Microcornea Syndrome

MalaCards organs/tissues related to Cataract Microcornea Syndrome:

40
Eye

Publications for Cataract Microcornea Syndrome

Articles related to Cataract Microcornea Syndrome:

(show top 50) (show all 73)
# Title Authors PMID Year
1
An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response. 6 61
19503744 2009
2
A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. 6 61
16735993 2006
3
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. 6
29464339 2019
4
Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes. 6
30450742 2018
5
The impact of different mutations at Arg54 on structure, chaperone-like activity and oligomerization state of human αA-crystallin: The pathomechanism underlying congenital cataract-causing mutations R54L, R54P and R54C. 6
28179137 2017
6
Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts. 6
28392901 2017
7
Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities. 6
29386872 2017
8
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 6
26694549 2016
9
Pharmacological chaperone for α-crystallin partially restores transparency in cataract models. 6
26542570 2015
10
Real-time heterogeneous protein-protein interaction between αA-crystallin N-terminal mutants and αB-crystallin using quartz crystal microbalance (QCM). 6
25694240 2015
11
Cataract-linked mutation R188H promotes βB2-crystallin aggregation and fibrillization during acid denaturation. 6
24704203 2014
12
Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts. 6
24535056 2014
13
Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants. 6
25003127 2014
14
The importance of the last strand at the C-terminus in βB2-crystallin stability and assembly. 6
24120835 2014
15
Comparison of effect of gamma ray irradiation on wild-type and N-terminal mutants of αA-crystallin. 6
25018622 2014
16
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 6
23508780 2013
17
Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family. 6
23255486 2013
18
Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts. 6
23555834 2013
19
Structural integrity of the Greek key motif in βγ-crystallins is vital for central eye lens transparency. 6
23936409 2013
20
Mutations of small heat shock proteins and human congenital diseases. 6
23379525 2012
21
Identification of the p. R116H mutation in a Chinese family with novel variable cataract phenotype: evidence for a mutational hot spot in αA-crystallin gene. 6
22216983 2012
22
Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin. 6
22045060 2012
23
Mutations in human αA-crystallin/sHSP affect subunit exchange interaction with αB-crystallin. 6
22347476 2012
24
Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50. 6
21228318 2011
25
Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract. 6
21174522 2011
26
Congenital cataract causing mutants of αA-crystallin/sHSP form aggregates and aggresomes degraded through ubiquitin-proteasome pathway. 6
22140512 2011
27
Effects of congenital cataract mutation R116H on alphaA-crystallin structure, function and stability. 6
20079887 2010
28
The cytoplasmic accumulations of the cataract-associated mutant, Connexin50P88S, are long-lived and form in the endoplasmic reticulum. 6
19073179 2009
29
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin. 6
18587493 2008
30
Crystallin gene mutations in Indian families with inherited pediatric cataract. 6
18587492 2008
31
Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). 6
18302245 2008
32
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. 6
18006672 2008
33
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. 6
18334946 2008
34
Differential binding of mutant (R116C) and wildtype alphaA crystallin to actin. 6
18085469 2007
35
Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C). 6
17937925 2007
36
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 6
17724170 2007
37
Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state. 6
17564961 2007
38
Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. 6
17234267 2007
39
New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia. 6
17296897 2007
40
Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family. 6
16862070 2006
41
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. 6
16604058 2006
42
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. 6
16397066 2006
43
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. 6
14627691 2003
44
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. 6
14512969 2003
45
Loss of function and impaired degradation of a cataract-associated mutant connexin50. 6
12800976 2003
46
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. 6
12676897 2003
47
Alteration of protein-protein interactions of congenital cataract crystallin mutants. 6
12601044 2003
48
Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. 6
12011157 2002
49
Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. 6
11846744 2001
50
A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. 6
11424921 2001

Variations for Cataract Microcornea Syndrome

ClinVar genetic disease variations for Cataract Microcornea Syndrome:

6 (show top 50) (show all 165)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys) SNV Pathogenic 16937 rs121909595 GRCh37: 2:208989045-208989045
GRCh38: 2:208124321-208124321
2 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.109C>A (p.Arg37Ser) SNV Pathogenic 16939 rs121909597 GRCh37: 2:208988979-208988979
GRCh38: 2:208124255-208124255
3 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.470G>A (p.Trp157Ter) SNV Pathogenic 16941 rs121909598 GRCh37: 2:208986452-208986452
GRCh38: 2:208121728-208121728
4 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.70C>T (p.Pro24Ser) SNV Pathogenic 16942 rs28931605 GRCh37: 2:208989018-208989018
GRCh38: 2:208124294-208124294
5 CRYBB2 CRYBB2, 483C-T SNV Pathogenic 16950 GRCh37:
GRCh38:
6 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.402C>A (p.Tyr134Ter) SNV Pathogenic 68462 rs398122948 GRCh37: 2:208986520-208986520
GRCh38: 2:208121796-208121796
7 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.176G>A (p.Arg59His) SNV Pathogenic 16938 rs121909596 GRCh37: 2:208988912-208988912
GRCh38: 2:208124188-208124188
8 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter) SNV Pathogenic 574060 rs1337897299 GRCh37: 2:208986504-208986504
GRCh38: 2:208121780-208121780
9 GJA8 NM_005267.5(GJA8):c.68G>C (p.Arg23Thr) SNV Pathogenic 8724 rs80358203 GRCh37: 1:147380150-147380150
GRCh38: 1:147908023-147908023
10 GJA8 NM_005267.5(GJA8):c.131T>A (p.Val44Glu) SNV Pathogenic 8725 rs80358204 GRCh37: 1:147380213-147380213
GRCh38: 1:147908086-147908086
11 GJA8 NM_005267.5(GJA8):c.593G>A (p.Arg198Gln) SNV Pathogenic 8726 rs80358205 GRCh37: 1:147380675-147380675
GRCh38: 1:147908548-147908548
12 GJA8 NM_005267.5(GJA8):c.139G>A (p.Asp47Asn) SNV Pathogenic 8727 rs121434643 GRCh37: 1:147380221-147380221
GRCh38: 1:147908094-147908094
13 GJA8 NM_005267.5(GJA8):c.566C>T (p.Pro189Leu) SNV Pathogenic 68465 rs397515627 GRCh37: 1:147380648-147380648
GRCh38: 1:147908521-147908521
14 GJA8 NM_005267.5(GJA8):c.262C>T (p.Pro88Ser) SNV Pathogenic 8721 rs80358200 GRCh37: 1:147380344-147380344
GRCh38: 1:147908217-147908217
15 GJA8 NM_005267.5(GJA8):c.142G>A (p.Glu48Lys) SNV Pathogenic 8722 rs80358201 GRCh37: 1:147380224-147380224
GRCh38: 1:147908097-147908097
16 GJA8 NM_005267.5(GJA8):c.827C>T (p.Ser276Phe) SNV Pathogenic 427758 rs45619342 GRCh37: 1:147380909-147380909
GRCh38: 1:147908782-147908782
17 GJA8 NM_005267.5(GJA8):c.153C>G (p.Asp51Glu) SNV Pathogenic 574353 rs1307969607 GRCh37: 1:147380235-147380235
GRCh38: 1:147908108-147908108
18 GJA8 NM_005267.5(GJA8):c.262C>G (p.Pro88Ala) SNV Pathogenic 650108 rs80358200 GRCh37: 1:147380344-147380344
GRCh38: 1:147908217-147908217
19 GJA8 NC_000001.10:g.(?_147380063)_(147381404_?)del Deletion Pathogenic 833373 GRCh37: 1:147380063-147381404
GRCh38:
20 GJA8 NM_005267.5(GJA8):c.134G>T (p.Trp45Leu) SNV Pathogenic 845873 GRCh37: 1:147380216-147380216
GRCh38: 1:147908089-147908089
21 GJA8 NM_005267.5(GJA8):c.602A>G (p.Glu201Gly) SNV Pathogenic 861618 GRCh37: 1:147380684-147380684
GRCh38: 1:147908557-147908557
22 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr) SNV Pathogenic 16940 rs28931605 GRCh37: 2:208989018-208989018
GRCh38: 2:208124294-208124294
23 GJA8 NM_005267.5(GJA8):c.1159C>T (p.Gln387Ter) SNV Pathogenic 1032304 GRCh37: 1:147381241-147381241
GRCh38: 1:147909114-147909114
24 GJA8 NM_005267.5(GJA8):c.1300T>C (p.Ter434Arg) SNV Pathogenic 1032305 GRCh37: 1:147381382-147381382
GRCh38: 1:147909255-147909255
25 GJA8 NM_005267.5(GJA8):c.134G>C (p.Trp45Ser) SNV Pathogenic 217335 rs864309688 GRCh37: 1:147380216-147380216
GRCh38: 1:147908089-147908089
26 CRYBB2 NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter) SNV Pathogenic 16949 rs74315489 GRCh37: 22:25627584-25627584
GRCh38: 22:25231617-25231617
27 CRYAA NM_000394.4(CRYAA):c.346C>T (p.Arg116Cys) SNV Pathogenic 16957 rs74315439 GRCh37: 21:44592214-44592214
GRCh38: 21:43172104-43172104
28 CRYAA NM_000394.4(CRYAA):c.145C>T (p.Arg49Cys) SNV Pathogenic 16959 rs74315441 GRCh37: 21:44589354-44589354
GRCh38: 21:43169244-43169244
29 CRYAA NM_000394.4(CRYAA):c.292G>A (p.Gly98Arg) SNV Pathogenic 68456 rs398122947 GRCh37: 21:44590729-44590729
GRCh38: 21:43170619-43170619
30 CRYAA NM_000394.4(CRYAA):c.160C>T (p.Arg54Cys) SNV Pathogenic 68457 rs397515623 GRCh37: 21:44589369-44589369
GRCh38: 21:43169259-43169259
31 CRYAA NM_000394.4(CRYAA):c.347G>A (p.Arg116His) SNV Pathogenic 16960 rs121912973 GRCh37: 21:44592215-44592215
GRCh38: 21:43172105-43172105
32 CRYAA NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln) SNV Pathogenic 68461 rs397515626 GRCh37: 21:44589271-44589271
GRCh38: 21:43169161-43169161
33 CRYAA NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) SNV Pathogenic 68460 rs397515625 GRCh37: 21:44589270-44589270
GRCh38: 21:43169160-43169160
34 CRYAA NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) SNV Pathogenic 68459 rs397515624 GRCh37: 21:44589243-44589243
GRCh38: 21:43169133-43169133
35 CRYBB2 NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg) SNV Pathogenic/Likely pathogenic 242473 rs864309698 GRCh37: 22:25625451-25625451
GRCh38: 22:25229484-25229484
36 GJA8 NM_005267.5(GJA8):c.196T>C (p.Tyr66His) SNV Likely pathogenic 655801 rs1571175950 GRCh37: 1:147380278-147380278
GRCh38: 1:147908151-147908151
37 GJA8 NM_005267.5(GJA8):c.197A>C (p.Tyr66Ser) SNV Likely pathogenic 850845 GRCh37: 1:147380279-147380279
GRCh38: 1:147908152-147908152
38 CRYBB2 NM_000496.3(CRYBB2):c.446G>T (p.Gly149Val) SNV Likely pathogenic 952559 GRCh37: 22:25625542-25625542
GRCh38: 22:25229575-25229575
39 CRYBB2 NM_000496.3(CRYBB2):c.563G>A (p.Arg188His) SNV Likely pathogenic 280142 rs886041410 GRCh37: 22:25627684-25627684
GRCh38: 22:25231717-25231717
40 CRYBB2 NM_000496.3(CRYBB2):c.161T>G (p.Val54Gly) SNV Likely pathogenic 463969 rs1555888762 GRCh37: 22:25620991-25620991
GRCh38: 22:25225024-25225024
41 CRYBB2 NM_000496.3(CRYBB2):c.551T>G (p.Val184Gly) SNV Likely pathogenic 463971 rs1555889308 GRCh37: 22:25627672-25627672
GRCh38: 22:25231705-25231705
42 GJA8 NM_005267.5(GJA8):c.385G>A (p.Val129Ile) SNV Conflicting interpretations of pathogenicity 292466 rs142415337 GRCh37: 1:147380467-147380467
GRCh38: 1:147908340-147908340
43 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) SNV Conflicting interpretations of pathogenicity 333874 rs202233735 GRCh37: 2:208988920-208988920
GRCh38: 2:208124196-208124196
44 CRYAA NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe) SNV Conflicting interpretations of pathogenicity 340096 rs146914780 GRCh37: 21:44589363-44589363
GRCh38: 21:43169253-43169253
45 GJA8 NM_005267.5(GJA8):c.183C>T (p.Cys61=) SNV Uncertain significance 292463 rs782213276 GRCh37: 1:147380265-147380265
GRCh38: 1:147908138-147908138
46 GJA8 NM_005267.5(GJA8):c.1126G>A (p.Gly376Arg) SNV Uncertain significance 842697 GRCh37: 1:147381208-147381208
GRCh38: 1:147909081-147909081
47 CRYBB2 NM_000496.3(CRYBB2):c.173+1G>T SNV Uncertain significance 1038716 GRCh37: 22:25621004-25621004
GRCh38: 22:25225037-25225037
48 CRYBB2 NM_000496.3(CRYBB2):c.559G>A (p.Val187Met) SNV Uncertain significance 1039314 GRCh37: 22:25627680-25627680
GRCh38: 22:25231713-25231713
49 GJA8 NM_005267.5(GJA8):c.665T>C (p.Met222Thr) SNV Uncertain significance 877036 GRCh37: 1:147380747-147380747
GRCh38: 1:147908620-147908620
50 GJA8 NM_005267.5(GJA8):c.670T>C (p.Leu224=) SNV Uncertain significance 877037 GRCh37: 1:147380752-147380752
GRCh38: 1:147908625-147908625

Expression for Cataract Microcornea Syndrome

Search GEO for disease gene expression data for Cataract Microcornea Syndrome.

Pathways for Cataract Microcornea Syndrome

GO Terms for Cataract Microcornea Syndrome

Biological processes related to Cataract Microcornea Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.43 CRYGD CRYGC CRYBB2 CRYBB1 CRYBA4 CRYAA
2 camera-type eye development GO:0043010 9.33 GJA8 CRYBB2 CRYBA4
3 lens fiber cell differentiation GO:0070306 9.26 MAF CRYGD
4 lens development in camera-type eye GO:0002088 9.17 MAF GJA8 CRYGD CRYGC CRYBB2 CRYBB1

Molecular functions related to Cataract Microcornea Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.1 CRYGD CRYGC CRYBB2 CRYBB1 CRYBA4 CRYAA

Sources for Cataract Microcornea Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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