MCID: BRT029
MIFTS: 12

Brittle Cornea Syndrome 2 malady

Summaries for Brittle Cornea Syndrome 2

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Brittle Cornea Syndrome 2, also known as ehlers-danlos syndrome 6b, is related to type vi ehlers-danlos syndrome and brittle cornea syndrome 1. An important gene associated with Brittle Cornea Syndrome 2 is PRDM5 (PR domain containing 5).

Description from OMIM:46 614170

Aliases & Classifications for Brittle Cornea Syndrome 2

About this section
Sources:
20GeneTests, 22GTR, 46OMIM, 60UMLS
See all sources

Aliases & Descriptions:

brittle cornea syndrome 2 20 22 46
ehlers-danlos syndrome 6b 60


Related Diseases for Brittle Cornea Syndrome 2

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Brittle Cornea Syndrome 2 family:

Brittle Cornea Syndrome 1

Diseases related to Brittle Cornea Syndrome 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1type vi ehlers-danlos syndrome10.4
2brittle cornea syndrome 110.4

Clinical Features for Brittle Cornea Syndrome 2

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

614170

Clinical synopsis from OMIM:

614170

Drugs & Therapeutics for Brittle Cornea Syndrome 2

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section

Animal Models for Brittle Cornea Syndrome 2 or affiliated genes

About this section

Publications for Brittle Cornea Syndrome 2

About this section

Genetic Variations for Brittle Cornea Syndrome 2

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Brittle Cornea Syndrome 2:

62
id Symbol AA change Variation ID SNP ID
1PRDM5p.Tyr107CysVAR_066393

Expression for genes affiliated with Brittle Cornea Syndrome 2

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Brittle Cornea Syndrome 2

About this section

GO Terms for genes affiliated with Brittle Cornea Syndrome 2

About this section

Products for genes affiliated with Brittle Cornea Syndrome 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brittle Cornea Syndrome 2

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet