MCID: MCR076
MIFTS: 24

Microphthalmia Cataract malady

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

Summaries for Microphthalmia Cataract

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MalaCards based summary: Microphthalmia Cataract, also known as congenital cataract - microphthalmia, is related to microphthalmia with cataract 2 and microphthalmia, and has symptoms including chorioretinal coloboma, iris coloboma and aplasia/hypoplasia affecting the eye. An important gene associated with Microphthalmia Cataract is SIX6 (SIX homeobox 6). Affiliated tissues include eye, and related mouse phenotypes are endocrine/exocrine gland and vision/eye.

Aliases & Classifications for Microphthalmia Cataract

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Sources:
41NIH Rare Diseases, 47Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Microphthalmia Cataract, Aliases & Descriptions:

Name: Microphthalmia Cataract 41
Congenital Cataract - Microphthalmia 41 47
Microphthalmia - Cataract 41 47
 
Cataract, Congenital, with Microphthalmia 41
Microphthalmia, Isolated, with Cataract 41


Classifications:

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


External Ids:

Orphanet47 2543
ICD10 via Orphanet26 Q15.8
ICD1025 Q12.0

Related Diseases for Microphthalmia Cataract

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Graphical network of the top 20 diseases related to Microphthalmia Cataract:



Diseases related to microphthalmia cataract

Symptoms for Microphthalmia Cataract

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Symptoms:

 47
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • coloboma of iris
  • retinoschisis/retinal/chorioretinal coloboma
  • autosomal dominant inheritance

HPO human phenotypes related to Microphthalmia Cataract:

id Description Frequency HPO Source Accession
1 chorioretinal coloboma typical (50%) HP:0000567
2 iris coloboma typical (50%) HP:0000612
3 aplasia/hypoplasia affecting the eye typical (50%) HP:0008056

Drugs & Therapeutics for Microphthalmia Cataract

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Drug clinical trials:

Search ClinicalTrials for Microphthalmia Cataract

Search NIH Clinical Center for Microphthalmia Cataract

Genetic Tests for Microphthalmia Cataract

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Anatomical Context for Microphthalmia Cataract

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MalaCards organs/tissues related to Microphthalmia Cataract:

31
Eye

Animal Models for Microphthalmia Cataract or affiliated genes

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MGI Mouse Phenotypes related to Microphthalmia Cataract:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.1SIX6, VSX2
2MP:00053918.8SIX6, VSX2

Publications for Microphthalmia Cataract

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Articles related to Microphthalmia Cataract:

idTitleAuthorsYear
1
Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification. (10340646)
1999

Variations for Microphthalmia Cataract

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Expression for genes affiliated with Microphthalmia Cataract

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Search GEO for disease gene expression data for Microphthalmia Cataract.

Pathways for genes affiliated with Microphthalmia Cataract

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Compounds for genes affiliated with Microphthalmia Cataract

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GO Terms for genes affiliated with Microphthalmia Cataract

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Biological processes related to Microphthalmia Cataract according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.1SIX6, VSX2

Molecular functions related to Microphthalmia Cataract according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00037009.1SIX6, VSX2
2sequence-specific DNA bindingGO:00435658.8SIX6, VSX2

Products for genes affiliated with Microphthalmia Cataract

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

Sources for Microphthalmia Cataract

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet