MCID: BRT029
MIFTS: 11

Brittle Cornea Syndrome 2 malady

Genetic diseases (common) category
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Summaries for Brittle Cornea Syndrome 2

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Sources:
47OMIM, 33MalaCards
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MalaCards: Brittle Cornea Syndrome 2, is also known as ehlers-danlos syndrome 6b An important gene associated with Brittle Cornea Syndrome 2 is PRDM5 (PR domain containing 5).

Description from OMIM:47 614170

Aliases & Classifications for Brittle Cornea Syndrome 2

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Sources:
20GeneTests, 22GTR, 47OMIM, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

brittle cornea syndrome 2 20 22 47
ehlers-danlos syndrome 6b 62


Related Diseases for Brittle Cornea Syndrome 2

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Symptoms for Brittle Cornea Syndrome 2

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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

614170

Clinical features from OMIM:

614170

Drugs & Therapeutics for Brittle Cornea Syndrome 2

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Brittle Cornea Syndrome 2

Search NIH Clinical Center for Brittle Cornea Syndrome 2

Genetic Tests for Brittle Cornea Syndrome 2

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20GeneTests, 22GTR
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Genetic tests related to Brittle Cornea Syndrome 2:

id Genetic test Affiliating Genes
1 Brittle Cornea Syndrome 220 22 PRDM5

Anatomical Context for Brittle Cornea Syndrome 2

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Animal Models for Brittle Cornea Syndrome 2 or affiliated genes

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Publications for Brittle Cornea Syndrome 2

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Variations for Brittle Cornea Syndrome 2

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Brittle Cornea Syndrome 2:

64
id Symbol AA change Variation ID SNP ID
1PRDM5p.Tyr107CysVAR_066393

Clinvar genetic disease variations for Brittle Cornea Syndrome 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1PRDM5PRDM5, 52.46-KB DELdeletionPathogenic
2PRDM5NM_018699.3(PRDM5): c.1768C> T (p.Arg590Ter)single nucleotide variantPathogenicrs387907110GRCh37Chr 4, 121616391: 121616391
3PRDM5PRDM5, IVS1DS, G-A, +1single nucleotide variantPathogenic
4PRDM5NM_018699.3(PRDM5): c.320A> G (p.Tyr107Cys)single nucleotide variantPathogenicrs387907111GRCh37Chr 4, 121742481: 121742481
5PRDM5PRDM5, 1-BP DEL, 947GdeletionPathogenic
6PRDM5PRDM5, IVS1DS, T-C, +2single nucleotide variantPathogenic

Expression for genes affiliated with Brittle Cornea Syndrome 2

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brittle Cornea Syndrome 2

Search GEO for disease gene expression data for Brittle Cornea Syndrome 2.

Pathways for genes affiliated with Brittle Cornea Syndrome 2

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Compounds for genes affiliated with Brittle Cornea Syndrome 2

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GO Terms for genes affiliated with Brittle Cornea Syndrome 2

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Products for genes affiliated with Brittle Cornea Syndrome 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brittle Cornea Syndrome 2

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet