MCID: BRT029
MIFTS: 11

Brittle Cornea Syndrome 2 malady

Genetic diseases (common) category

Summaries for Brittle Cornea Syndrome 2

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Sources:
48OMIM, 34MalaCards
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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:48 614170

Aliases & Classifications for Brittle Cornea Syndrome 2

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Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:

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


Aliases & Descriptions:

brittle cornea syndrome 2 21 23 48
ehlers-danlos syndrome 6b 63


Related Diseases for Brittle Cornea Syndrome 2

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Symptoms for Brittle Cornea Syndrome 2

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48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Brittle Cornea Syndrome 2

Drug clinical trials:

Search ClinicalTrials for Brittle Cornea Syndrome 2

Search NIH Clinical Center for Brittle Cornea Syndrome 2

Search CenterWatch for Brittle Cornea Syndrome 2

Genetic Tests for Brittle Cornea Syndrome 2

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21GeneTests, 23GTR
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Genetic tests related to Brittle Cornea Syndrome 2:

id Genetic test Affiliating Genes
1 Brittle Cornea Syndrome 221 23 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:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Brittle Cornea Syndrome 2:

65
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, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brittle Cornea Syndrome 2

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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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet