MCID: CTR014
MIFTS: 35

Cataract Microcornea Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Cataract Microcornea Syndrome

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Wikipedia:65 The cataract-microcornea syndrome is the association of congenital cataract and microcornea. more...

MalaCards based summary: Cataract Microcornea Syndrome, also known as cataract-microcornea syndrome, is related to cataract and cataract 9, multiple types, and has symptoms including microcornea, cataract and myopia. An important gene associated with Cataract Microcornea Syndrome is GJA8 (gap junction protein, alpha 8, 50kDa). The compound valine have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotype vision/eye.

Aliases & Classifications for Cataract Microcornea Syndrome

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Sources:
43NIH Rare Diseases, 62UMLS, 49Orphanet, 22GeneTests, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Cataract Microcornea Syndrome, Aliases & Descriptions:

Name: Cataract Microcornea Syndrome 43 62
Cataract-Microcornea Syndrome 43 49
 
Microcornea Cataract Syndrome 43 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

49
cataract-microcornea syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

Orphanet49 1377
MESH via Orphanet36 C538287
ICD10 via Orphanet28 Q13.8
UMLS via Orphanet63 C1861829

Related Diseases for Cataract Microcornea Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1cataract30.5MAF, CRYGD, CRYBA4, CRYBB2, CRYAA, CRYBB1
2cataract 9, multiple types30.2GJA8, CRYBB1, CRYAA, CRYBB2
3cataract 1, multiple types10.3
4cataract 2310.0CRYBA4
5blindness10.0CRYGC, CRYAA
6microphthalmia10.0CRYAA, CRYBA4, GJA8
7nuclear cataract10.0CRYGD, CRYAA, GJA8
8senile cataract10.0CRYBB2, CRYAA, CRYBB1, GJA8

Graphical network of diseases related to Cataract Microcornea Syndrome:



Diseases related to cataract microcornea syndrome

Symptoms for Cataract Microcornea Syndrome

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Symptoms:

 49 (show all 9)
  • microcornea
  • cataract/lens opacification
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • myopia
  • coloboma of iris
  • corneal clouding/opacity/vascularisation
  • corneal dystrophy
  • nystagmus

HPO human phenotypes related to Cataract Microcornea Syndrome:

(show all 7)
id Description Frequency HPO Source Accession
1 microcornea hallmark (90%) HP:0000482
2 cataract hallmark (90%) HP:0000518
3 myopia typical (50%) HP:0000545
4 iris coloboma occasional (7.5%) HP:0000612
5 nystagmus occasional (7.5%) HP:0000639
6 corneal dystrophy occasional (7.5%) HP:0001131
7 opacification of the corneal stroma occasional (7.5%) HP:0007759

Drugs & Therapeutics for Cataract Microcornea Syndrome

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Drug clinical trials:

Search ClinicalTrials for Cataract Microcornea Syndrome

Search NIH Clinical Center for Cataract Microcornea Syndrome

Genetic Tests for Cataract Microcornea Syndrome

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Genetic tests related to Cataract Microcornea Syndrome:

id Genetic test Affiliating Genes
1 Cataract-Microcornea Syndrome22 GJA8

Anatomical Context for Cataract Microcornea Syndrome

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MalaCards organs/tissues related to Cataract Microcornea Syndrome:

33
Eye

Animal Models for Cataract Microcornea Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cataract Microcornea Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.5GJA8, CRYGC, CRYAA, CRYBB2, CRYGD, MAF

Publications for Cataract Microcornea Syndrome

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Articles related to Cataract Microcornea Syndrome:

idTitleAuthorsYear
1
Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome. (25406294)
2014
2
Increasing I^B1-crystallin sensitivity to proteolysis caused by the congenital cataract-microcornea syndrome mutation S129R. (23159606)
2013
3
A novel mutation in CRYBB1 associated with congenital cataract- microcornea syndrome: the p.Ser129Arg mutation destabilizes the betaB1/betaA3-crystallin heteromer but not the betaB1-crystallin homomer. (21972112)
2011
4
Novel MAF mutation in a family with congenital cataract-microcornea syndrome. (17982426)
2007
5
A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. (16735993)
2006

Variations for Cataract Microcornea Syndrome

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Clinvar genetic disease variations for Cataract Microcornea Syndrome:

7 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1CRYBB2NM_000496.2(CRYBB2): c.463C> T (p.Gln155Ter)single nucleotide variantPathogenicrs74315489GRCh37Chr 22, 25627584: 25627584
2CRYBB2CRYBB2, 483C-Tsingle nucleotide variantPathogenic
3CRYAANM_000394.3(CRYAA): c.346C> T (p.Arg116Cys)single nucleotide variantPathogenicrs74315439GRCh37Chr 21, 44592214: 44592214
4CRYAANM_000394.3(CRYAA): c.145C> T (p.Arg49Cys)single nucleotide variantPathogenicrs74315441GRCh37Chr 21, 44589354: 44589354
5CRYAANM_000394.3(CRYAA): c.347G> A (p.Arg116His)single nucleotide variantPathogenicrs121912973GRCh37Chr 21, 44592215: 44592215
6CRYAANM_000394.3(CRYAA): c.292G> A (p.Gly98Arg)single nucleotide variantPathogenicrs398122947GRCh37Chr 21, 44590729: 44590729
7CRYAANM_000394.3(CRYAA): c.160C> T (p.Arg54Cys)single nucleotide variantPathogenicrs397515623GRCh37Chr 21, 44589369: 44589369
8CRYAANM_000394.3(CRYAA): c.62G> A (p.Arg21Gln)single nucleotide variantPathogenicrs397515626GRCh37Chr 21, 44589271: 44589271
9GJA8NM_005267.4(GJA8): c.566C> T (p.Pro189Leu)single nucleotide variantPathogenicrs397515627GRCh37Chr 1, 147380648: 147380648
10GJA8NM_005267.4(GJA8): c.262C> T (p.Pro88Ser)single nucleotide variantPathogenicrs80358200GRCh37Chr 1, 147380344: 147380344
11GJA8NM_005267.4(GJA8): c.142G> A (p.Glu48Lys)single nucleotide variantPathogenicrs80358201GRCh37Chr 1, 147380224: 147380224
12GJA8NM_005267.4(GJA8): c.741T> G (p.Ile247Met)single nucleotide variantPathogenicrs80358202GRCh37Chr 1, 147380823: 147380823
13GJA8NM_005267.4(GJA8): c.68G> C (p.Arg23Thr)single nucleotide variantPathogenicrs80358203GRCh37Chr 1, 147380150: 147380150
14GJA8NM_005267.4(GJA8): c.131T> A (p.Val44Glu)single nucleotide variantPathogenicrs80358204GRCh37Chr 1, 147380213: 147380213
15GJA8NM_005267.4(GJA8): c.593G> A (p.Arg198Gln)single nucleotide variantPathogenicrs80358205GRCh37Chr 1, 147380675: 147380675
16GJA8NM_005267.4(GJA8): c.139G> A (p.Asp47Asn)single nucleotide variantPathogenicrs121434643GRCh37Chr 1, 147380221: 147380221

Expression for genes affiliated with Cataract Microcornea Syndrome

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

Pathways for genes affiliated with Cataract Microcornea Syndrome

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Compounds for genes affiliated with Cataract Microcornea Syndrome

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Sources:
45Novoseek
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Compounds related to Cataract Microcornea Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1valine459.8GJA8, CRYAA

GO Terms for genes affiliated with Cataract Microcornea Syndrome

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Biological processes related to Cataract Microcornea Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homooligomerizationGO:00512609.8GJA8, CRYAA
2lens fiber cell differentiationGO:00703069.0CRYGD, MAF
3lens development in camera-type eyeGO:00020889.0CRYGD, GJA8
4camera-type eye developmentGO:00430109.0CRYBA4, CRYGC, CRYBB2
5visual perceptionGO:00076017.0CRYGD, CRYBA4, CRYBB2, CRYAA, CRYBB1, CRYGC

Molecular functions related to Cataract Microcornea Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of eye lensGO:00052127.3CRYGC, CRYBB1, CRYAA, CRYBB2, CRYBA4, CRYGD

Products for genes affiliated with Cataract Microcornea Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cataract Microcornea Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet