BCD
MCID: BTT001
MIFTS: 31

Bietti Crystalline Corneoretinal Dystrophy (BCD) malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Bietti Crystalline Corneoretinal Dystrophy

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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 retinoschisis and choroiditis. An important gene associated with Bietti Crystalline Corneoretinal Dystrophy is CYP4V2 (cytochrome P450, family 4, subfamily V, polypeptide 2). Affiliated tissues include eye and 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

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS, 20GeneTests, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 36MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 49 
Rare eye diseases


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 62
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 62
bietti's crystalline dystrophy 8


External Ids:

Disease Ontology8 DOID:0050664
OMIM47 210370
SNOMED-CT via Orphanet59 312927001
ICD10 via Orphanet26 H15.5
MESH via Orphanet36 C535440

Related Diseases for Bietti Crystalline Corneoretinal Dystrophy

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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
1retinoschisis10.4
2choroiditis10.4
3eating disorder10.0
4dwarfism10.0
5ectropion inferior cleft lip and or palate10.0
6blepharo-cheilo-odontic syndrome10.0

Graphical network of diseases related to Bietti Crystalline Corneoretinal Dystrophy:



Diseases related to bietti crystalline corneoretinal dystrophy

Symptoms for Bietti Crystalline Corneoretinal Dystrophy

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47OMIM
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Symptoms by clinical synopsis from OMIM:

210370

Clinical features from OMIM:

210370

Drugs & Therapeutics for Bietti Crystalline Corneoretinal Dystrophy

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

Search ClinicalTrials for Bietti Crystalline Corneoretinal Dystrophy

Search NIH Clinical Center for Bietti Crystalline Corneoretinal Dystrophy

Genetic Tests for Bietti Crystalline Corneoretinal Dystrophy

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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

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

33
Eye, Retina

Animal Models for Bietti Crystalline Corneoretinal Dystrophy or affiliated genes

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Publications for Bietti Crystalline Corneoretinal Dystrophy

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52PubMed
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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
Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. (16179904)
2005
7
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. (15042513)
2004
8
Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. (11001583)
2000

Variations for Bietti Crystalline Corneoretinal Dystrophy

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Bietti Crystalline Corneoretinal Dystrophy:

64
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Bietti Crystalline Corneoretinal Dystrophy:

1 (show all 32)
id Gene Name Type Significance SNP ID Assembly Location
1CYP4V2NM_207352.3(CYP4V2): c.130T> A (p.Trp44Arg)single nucleotide variantPathogenicrs119103282GRCh37Chr 4, 187113107: 187113107
2CYP4V2NM_207352.3(CYP4V2): c.332T> C (p.Ile111Thr)single nucleotide variantPathogenicrs119103283GRCh37Chr 4, 187117161: 187117161
3CYP4V2NM_207352.3(CYP4V2): c.1523G> A (p.Arg508His)single nucleotide variantPathogenicrs119103284GRCh37Chr 4, 187131740: 187131740
4CYP4V2NM_207352.3(CYP4V2): c.181G> A (p.Gly61Ser)single nucleotide variantPathogenicrs119103285GRCh37Chr 4, 187113158: 187113158
5CYP4V2NM_207352.3(CYP4V2): c.1091-2A> Gsingle nucleotide variantPathogenicrs199476183GRCh37Chr 4, 187130017: 187130017
6CYP4V2NM_207352.3(CYP4V2): c.1020G> A (p.Trp340Ter)single nucleotide variantPathogenicrs199476198GRCh37Chr 4, 187126386: 187126386
7CYP4V2NM_207352.3(CYP4V2): c.1021T> C (p.Ser341Pro)single nucleotide variantPathogenicrs199476199GRCh37Chr 4, 187126387: 187126387
8CYP4V2NM_207352.3(CYP4V2): c.1157A> C (p.Lys386Thr)single nucleotide variantPathogenicrs199476200GRCh37Chr 4, 187130085: 187130085
9CYP4V2NM_207352.3(CYP4V2): c.1169G> A (p.Arg390His)single nucleotide variantPathogenicrs199476201GRCh37Chr 4, 187130097: 187130097
10CYP4V2NM_207352.3(CYP4V2): c.1187C> T (p.Pro396Leu)single nucleotide variantPathogenicrs199476202GRCh37Chr 4, 187130115: 187130115
11CYP4V2NM_207352.3(CYP4V2): c.1198C> T (p.Arg400Cys)single nucleotide variantPathogenicrs138444697GRCh37Chr 4, 187130126: 187130126
12CYP4V2NM_207352.3(CYP4V2): c.1199G> A (p.Arg400His)single nucleotide variantPathogenicrs199476203GRCh37Chr 4, 187130127: 187130127
13CYP4V2NM_207352.3: c.1226-6_1235del16deletionPathogenicrs199476184GRCh37Chr 4, 187130241: 187130256
14CYP4V2NM_207352.3(CYP4V2): c.1348C> T (p.Gln450Ter)single nucleotide variantPathogenicrs199476204GRCh37Chr 4, 187130369: 187130369
15CYP4V2NM_207352.3(CYP4V2): c.1445C> A (p.Ser482Ter)single nucleotide variantPathogenicrs146494374GRCh37Chr 4, 187131662: 187131662
16CYP4V2NM_207352.3(CYP4V2): c.1526C> T (p.Pro509Leu)single nucleotide variantPathogenicrs199476205GRCh37Chr 4, 187131743: 187131743
17CYP4V2NM_207352.3(CYP4V2): c.237G> T (p.Glu79Asp)single nucleotide variantPathogenicrs199476185GRCh37Chr 4, 187115676: 187115676
18CYP4V2NM_207352.3(CYP4V2): c.253C> T (p.Arg85Cys)single nucleotide variantPathogenicrs199476186GRCh37Chr 4, 187115692: 187115692
19CYP4V2NM_207352.3(CYP4V2): c.283G> A (p.Gly95Arg)single nucleotide variantPathogenicrs199476187GRCh37Chr 4, 187115722: 187115722
20CYP4V2NM_207352.3(CYP4V2): c.327+1G> Asingle nucleotide variantPathogenicrs199476182GRCh37Chr 4, 187115767: 187115767
21CYP4V2NM_207352.3(CYP4V2): c.335T> G (p.Leu112Ter)single nucleotide variantPathogenicrs199476188GRCh37Chr 4, 187117164: 187117164
22CYP4V2NM_207352.3(CYP4V2): c.367A> G (p.Met123Val)single nucleotide variantLikely benign, Pathogenicrs149684063GRCh37Chr 4, 187117196: 187117196
23CYP4V2NM_207352.3(CYP4V2): c.400G> T (p.Gly134Ter)single nucleotide variantPathogenicrs199476189GRCh37Chr 4, 187117229: 187117229
24CYP4V2NM_207352.3(CYP4V2): c.518T> G (p.Leu173Trp)single nucleotide variantPathogenicrs199476190GRCh37Chr 4, 187118198: 187118198
25CYP4V2NM_207352.3(CYP4V2): c.64C> G (p.Leu22Val)single nucleotide variantBenign, Likely benign, Pathogenicrs1055138GRCh37Chr 4, 187113041: 187113041
26CYP4V2NM_207352.3(CYP4V2): c.655T> C (p.Tyr219His)single nucleotide variantPathogenicrs199476191GRCh37Chr 4, 187118737: 187118737
27CYP4V2NM_207352.3(CYP4V2): c.759dupA (p.His254Thrfs)duplicationPathogenicrs199476192GRCh37Chr 4, 187120195: 187120196
28CYP4V2NM_207352.3(CYP4V2): c.761A> G (p.His254Arg)single nucleotide variantPathogenicrs199476193GRCh37Chr 4, 187120197: 187120197
29CYP4V2NM_207352.3(CYP4V2): c.958C> T (p.Arg320Ter)single nucleotide variantPathogenicrs199476194GRCh37Chr 4, 187122467: 187122467
30CYP4V2NM_207352.3(CYP4V2): c.971A> T (p.Asp324Val)single nucleotide variantPathogenicrs199476195GRCh37Chr 4, 187122480: 187122480
31CYP4V2NM_207352.3(CYP4V2): c.974C> T (p.Thr325Ile)single nucleotide variantPathogenicrs199476196GRCh37Chr 4, 187122483: 187122483
32CYP4V2NM_207352.3(CYP4V2): c.992A> C (p.His331Pro)single nucleotide variantPathogenicrs199476197GRCh37Chr 4, 187126358: 187126358

Expression for genes affiliated with Bietti Crystalline Corneoretinal Dystrophy

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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

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Compounds for genes affiliated with Bietti Crystalline Corneoretinal Dystrophy

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GO Terms for genes affiliated with Bietti Crystalline Corneoretinal Dystrophy

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Products for genes affiliated with Bietti Crystalline Corneoretinal Dystrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bietti Crystalline Corneoretinal Dystrophy

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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