BCD
MCID: BTT001
MIFTS: 23

Bietti Crystalline Corneoretinal Dystrophy (BCD) malady

Eye category

Summaries for Bietti Crystalline Corneoretinal Dystrophy

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Bietti crystalline corneoretinal dystrophy is an inherited eye disease. symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). this tends to lead to progressive night blindness and loss of visual acuity. bietti crystalline corneoretinal dystrophy is caused by mutations in the cyp4v2 gene and inherited in an autosomal recessive fashion.  last updated: 7/5/2011

MalaCards: Bietti Crystalline Corneoretinal Dystrophy, also known as bietti crystalline dystrophy, is related to dwarfism and ectropion inferior cleft lip and or palate. An important gene associated with Bietti Crystalline Corneoretinal Dystrophy is CYP4V2 (cytochrome P450, family 4, subfamily V, polypeptide 2). Affiliated tissues include retina.

Genetics Home Reference:21 Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss.

Description from OMIM:47 210370

GeneReviews summary for bietti-cd

Aliases & Classifications for Bietti Crystalline Corneoretinal Dystrophy

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 20GeneTests, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
bietti crystalline corneoretinal dystrophy:
Inheritance: Autosomal recessive


Aliases & Descriptions:

bietti crystalline corneoretinal dystrophy 8 9 19 43 22 21 47 49 61
bietti crystalline dystrophy 19 20 21 49
bietti crystalline retinopathy 19 21 49
bcd 43 21 49
bietti tapetoretinal degeneration with marginal corneal dystrophy 43 21
bietti's crystalline retinopathy 61
bietti's crystalline dystrophy 8


External Ids:

Disease Ontology8 DOID:0050664
OMIM47 210370
ICD10 via Orphanet26 H15.5

Related Diseases for Bietti Crystalline Corneoretinal Dystrophy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Bietti Crystalline Corneoretinal Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dwarfism10.0
2ectropion inferior cleft lip and or palate10.0
3blepharo-cheilo-odontic syndrome10.0

Clinical Features for Bietti Crystalline Corneoretinal Dystrophy

Sources:
47OMIM
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Clinical features from OMIM:

210370

Clinical synopsis from OMIM:

210370

Drugs & Therapeutics for Bietti Crystalline Corneoretinal Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Bietti Crystalline Corneoretinal Dystrophy

Drug clinical trials:

Search ClinicalTrials for Bietti Crystalline Corneoretinal Dystrophy

Search NIH Clinical Center for Bietti Crystalline Corneoretinal Dystrophy

Search CenterWatch for Bietti Crystalline Corneoretinal Dystrophy

Genetic Tests for Bietti Crystalline Corneoretinal Dystrophy

Sources:
20GeneTests, 22GTR
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Genetic tests related to Bietti Crystalline Corneoretinal Dystrophy:

id Genetic test Affiliating Genes
1 Bietti Crystalline Dystrophy20 CYP4V2
2 Bietti Crystalline Corneoretinal Dystrophy22

Anatomical Context for Bietti Crystalline Corneoretinal Dystrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Bietti Crystalline Corneoretinal Dystrophy:

33
Retina

Animal Models for Bietti Crystalline Corneoretinal Dystrophy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Bietti Crystalline Corneoretinal Dystrophy

Sources:
51PubMed
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Articles related to Bietti Crystalline Corneoretinal Dystrophy:

idTitleAuthorsYear
1
Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. (21565171)
2011
2
In vivo confocal microscopic findings of 2 patients with Bietti crystalline corneoretinal dystrophy. (20299976)
2010
3
Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene. (19508456)
2010
4
Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. (17249554)
2006
5
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. (15937078)
2005
6
Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. (15860296)
2005
7
Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. (16179904)
2005
8
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. (15042513)
2004

Genetic Variations for Bietti Crystalline Corneoretinal Dystrophy

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Bietti Crystalline Corneoretinal Dystrophy:

63
id Symbol AA change Variation SNP ID
1CYP4V2p.Trp44ArgVAR_023084
2CYP4V2p.Gly61SerVAR_023085
3CYP4V2p.Glu79AspVAR_023086
4CYP4V2p.Ile111ThrVAR_023087
5CYP4V2p.Met123ValVAR_023088rs149684063
6CYP4V2p.His331ProVAR_023089
7CYP4V2p.Ser341ProVAR_023090
8CYP4V2p.Arg508HisVAR_023091

Expression for genes affiliated with Bietti Crystalline Corneoretinal Dystrophy

Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Bietti Crystalline Corneoretinal Dystrophy.

Pathways for genes affiliated with Bietti Crystalline Corneoretinal Dystrophy

Compounds for genes affiliated with Bietti Crystalline Corneoretinal Dystrophy

GO Terms for genes affiliated with Bietti Crystalline Corneoretinal Dystrophy

Products for genes affiliated with Bietti Crystalline Corneoretinal Dystrophy

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Sources for Bietti Crystalline Corneoretinal Dystrophy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet