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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MalaCards based summary: Brittle Cornea Syndrome 2, is also known as ehlers-danlos syndrome 6b and has symptoms including 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

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Brittle Cornea Syndrome 2, Aliases & Descriptions:

Name: Brittle Cornea Syndrome 2 20 22 46
 
Ehlers-Danlos Syndrome 6b 62


Classifications:

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


Related Diseases for Brittle Cornea Syndrome 2

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Symptoms for Brittle Cornea Syndrome 2

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Symptoms by clinical synopsis from OMIM:

614170

Clinical features from OMIM:

614170

HPO human phenotypes related to Brittle Cornea Syndrome 2:

(show all 14)
id Description Frequency HPO Source Accession
1 inguinal hernia rare (5%) HP:0000023
2 megalocornea rare (5%) HP:0000485
3 sclerocornea rare (5%) HP:0000647
4 gait disturbance rare (5%) HP:0001288
5 umbilical hernia rare (5%) HP:0001537
6 recurrent fractures rare (5%) HP:0002757
7 myalgia rare (5%) HP:0003326
8 flat cornea rare (5%) HP:0007720
9 autosomal recessive inheritance HP:0000007
10 hearing impairment HP:0000365
11 myopia HP:0000545
12 keratoconus HP:0000563
13 blue sclerae HP:0000592
14 keratoglobus HP:0001119

Drugs & Therapeutics for Brittle Cornea Syndrome 2

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Drug clinical trials:

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Search NIH Clinical Center for Brittle Cornea Syndrome 2

Genetic Tests for Brittle Cornea Syndrome 2

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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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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:

6
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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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

Sources for Brittle Cornea Syndrome 2

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet