BCD
MCID: BTT001
MIFTS: 43

Bietti Crystalline Corneoretinal Dystrophy (BCD)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Bietti Crystalline Corneoretinal Dystrophy

MalaCards integrated aliases for Bietti Crystalline Corneoretinal Dystrophy:

Name: Bietti Crystalline Corneoretinal Dystrophy 57 12 24 53 25 59 75 37 29 13 6 15 73
Bietti Crystalline Dystrophy 57 24 25 59 75
Bcd 57 53 25 59 75
Bietti Tapetoretinal Degeneration with Marginal Corneal Dystrophy 57 53 25 75
Bietti Crystalline Retinopathy 24 25 59
Dystrophy, Corneoretinal, Crystalline, Bietti 40
Bietti's Crystalline Dystrophy 12
Crystalline Retinopathy 75

Characteristics:

Orphanet epidemiological data:

59
bietti crystalline dystrophy
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in second to third decades of life


HPO:

32
bietti crystalline corneoretinal dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 210370
Disease Ontology 12 DOID:0050664
Orphanet 59 ORPHA41751
UMLS via Orphanet 74 C1859486
MESH via Orphanet 45 C535440
ICD10 via Orphanet 34 H15.5
MedGen 42 C1859486
KEGG 37 H02107
UMLS 73 C1859486

Summaries for Bietti Crystalline Corneoretinal Dystrophy

OMIM : 57 Bietti crystalline corneoretinal dystrophy is an autosomal recessive retinal dystrophy characterized by numerous tiny glistening yellow-white crystals at the posterior pole of the retina, associated with atrophy of the retinal pigment epithelium (RPE), pigment clumps, and choroidal sclerosis. Most cases have similar crystals at the corneoscleral limbus. The disorder is progressive; most patients develop decreased vision, nyctalopia, and paracentral scotomata between the second and fourth decades of life. Patients later develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the fifth or sixth decade of life. In a series of European patients diagnosed with nonsyndromic retinitis pigmentosa (RP; see 268000), BCD accounted for approximately 3% of all nonsyndromic RP and 10% of nonsyndromic autosomal recessive RP. Histopathology shows advanced panchorioretinal atrophy, with crystals and complex lipid inclusions seen in choroidal fibroblasts, corneal keratocytes, and conjunctival and skin fibroblasts, as well as in circulating lymphocytes, suggesting that BCD may result from a systemic abnormality of lipid metabolism (summary by Li et al., 2004). (210370)

MalaCards based summary : Bietti Crystalline Corneoretinal Dystrophy, also known as bietti crystalline dystrophy, is related to retinitis pigmentosa and blepharocheilodontic syndrome 1. An important gene associated with Bietti Crystalline Corneoretinal Dystrophy is CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2). The drugs Pyridoxal Phosphate and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and skin, and related phenotypes are progressive visual loss and constriction of peripheral visual field

Genetics Home Reference : 25 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.

NIH Rare Diseases : 53 Bietti crystalline corneoretinal dystrophy is an inheritedeye 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. 

UniProtKB/Swiss-Prot : 75 Bietti crystalline corneoretinal dystrophy: An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life.

Wikipedia : 76 Bietti''s crystalline dystrophy (BCD), also called Bietti crystalline corneoretinal dystrophy, is a rare... more...

GeneReviews: NBK91457

Related Diseases for Bietti Crystalline Corneoretinal Dystrophy

Diseases related to Bietti Crystalline Corneoretinal Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 29.8 CEP290 CHM CYP4V2 FLJ38576 IQCB1 NMNAT1
2 blepharocheilodontic syndrome 1 12.0
3 leber congenital amaurosis 4 10.3
4 retinitis 10.3
5 macular holes 10.3
6 retinoschisis 1, x-linked, juvenile 10.2
7 eye degenerative disease 10.2 CYP4V2 PRPH2
8 leber congenital amaurosis 10 10.2 CEP290 IQCB1
9 butterfly-shaped pigment dystrophy 10.2 CTNNA1 PRPH2
10 retinal aplasia 10.2 CEP290 IQCB1
11 choroidal dystrophy, central areolar, 1 10.1 CYP4V2 PRPH2
12 nephronophthisis 16 10.1 CEP290 IQCB1
13 leber congenital amaurosis 9 10.1 NMNAT1 RPGRIP1
14 nephronophthisis 11 10.1 CEP290 IQCB1
15 retinitis pigmentosa 3 10.1 IQCB1 RPGRIP1
16 corneal dystrophy 10.1
17 primary hyperoxaluria 10.1
18 eating disorder 10.1
19 dwarfism 10.1
20 depression 10.1
21 meckel syndrome, type 1 10.1 CEP290 IQCB1 RPGRIP1
22 nephronophthisis 10.0 CEP290 IQCB1 RPGRIP1
23 retinal disease 10.0 CEP290 PRPH2 RPGRIP1
24 joubert syndrome 1 10.0 CEP290 IQCB1 RPGRIP1
25 yemenite deaf-blind hypopigmentation syndrome 10.0 CEP290 CHM
26 retinal degeneration 10.0 CHM PRPH2 RPGRIP1
27 macular dystrophy, dominant cystoid 10.0
28 macular retinal edema 10.0
29 cone-rod dystrophy 2 10.0 CYP4V2 IQCB1 PRPH2 RPGRIP1
30 bardet-biedl syndrome 13 10.0 ALMS1 CEP290
31 choroideremia 10.0 CHM CHML CYP4V2
32 senior-loken syndrome 1 9.9 CEP290 IQCB1
33 uveal disease 9.9 CHM CHML
34 calciphylaxis 9.9
35 clopidogrel resistance 9.8 HMGCR PPIG
36 leber congenital amaurosis 9.5 ALMS1 CEP290 CTNNA1 CYP4V2 IQCB1 NMNAT1
37 fundus dystrophy 9.4 ALMS1 CEP290 CHM CYP4V2 IQCB1 NMNAT1

Graphical network of the top 20 diseases related to Bietti Crystalline Corneoretinal Dystrophy:



Diseases related to Bietti Crystalline Corneoretinal Dystrophy

Symptoms & Phenotypes for Bietti Crystalline Corneoretinal Dystrophy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinal degeneration
decreased visual acuity, progressive
visual field constriction
high myopia (in some patients)
night blindness, progressive
more
Hematology:
lipid inclusions in lymphocytes


Clinical features from OMIM:

210370

Human phenotypes related to Bietti Crystalline Corneoretinal Dystrophy:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 32 HP:0000529
2 constriction of peripheral visual field 32 HP:0001133
3 abnormality of blood and blood-forming tissues 32 HP:0001871
4 progressive night blindness 32 HP:0007675
5 retinal degeneration 32 HP:0000546
6 chorioretinal atrophy 32 HP:0000533
7 marginal corneal dystrophy 32 HP:0007880
8 high myopia 32 occasional (7.5%) HP:0011003
9 paracentral scotoma 32 HP:0030528

MGI Mouse Phenotypes related to Bietti Crystalline Corneoretinal Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.43 ALMS1 CEP290 CHM CTNNA1 NMNAT1 PRPH2
2 vision/eye MP:0005391 9.23 ALMS1 CEP290 CHM CTNNA1 CYP4V2 NMNAT1

Drugs & Therapeutics for Bietti Crystalline Corneoretinal Dystrophy

Drugs for Bietti Crystalline Corneoretinal Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pyridoxal Phosphate Approved, Investigational, Nutraceutical 54-47-7 1051
2
Ornithine Approved, Nutraceutical 3184-13-2, 70-26-8 6262
3
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
4 arginine
5 Vitamin B 6
6
Pyridoxal Experimental, Nutraceutical 66-72-8 1050

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Genetics of Retinal Degenerations Completed NCT00231010
2 Gyrate Atrophy of the Choroid and Retina Completed NCT00001166

Search NIH Clinical Center for Bietti Crystalline Corneoretinal Dystrophy

Genetic Tests for Bietti Crystalline Corneoretinal Dystrophy

Genetic tests related to Bietti Crystalline Corneoretinal Dystrophy:

# Genetic test Affiliating Genes
1 Bietti Crystalline Corneoretinal Dystrophy 29 CYP4V2

Anatomical Context for Bietti Crystalline Corneoretinal Dystrophy

MalaCards organs/tissues related to Bietti Crystalline Corneoretinal Dystrophy:

41
Retina, Eye, Skin

Publications for Bietti Crystalline Corneoretinal Dystrophy

Articles related to Bietti Crystalline Corneoretinal Dystrophy:

(show all 30)
# Title Authors Year
1
Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy. ( 30429639 )
2018
2
Choriocapillaris flow deficit in Bietti crystalline dystrophy detected using optical coherence tomography angiography. ( 29197825 )
2018
3
Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients. ( 29691984 )
2018
4
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy. ( 28051075 )
2017
5
Novel gene mutation in a patient with Bietti crystalline dystrophy without corneal deposits. ( 28097764 )
2017
6
Outcome of Macular Hole Surgery in Bietti Crystalline Dystrophy. ( 28791069 )
2017
7
Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy. ( 26971461 )
2016
8
Genetics of Bietti Crystalline Dystrophy. ( 27228076 )
2016
9
Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients. ( 26085992 )
2015
10
Bietti crystalline dystrophy in a young woman. ( 25763553 )
2015
11
Re: Halford et al.: Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy (Ophthalmology 2014;121:1174-84). ( 25797086 )
2015
12
UTILIZATION OF FUNDUS AUTOFLUORESCENCE, SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY, AND ENHANCED DEPTH IMAGING IN THE CHARACTERIZATION OF BIETTI CRYSTALLINE DYSTROPHY IN DIFFERENT STAGES. ( 25978730 )
2015
13
Generation and characterization of a murine model of Bietti crystalline dystrophy. ( 25118264 )
2014
14
High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation. ( 25276414 )
2014
15
Spectral domain optical coherence tomographic findings of bietti crystalline dystrophy. ( 25505979 )
2014
16
Clinical and genetic features in Italian Bietti crystalline dystrophy patients. ( 23221965 )
2013
17
Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. ( 21565171 )
2011
18
Bietti crystalline dystrophy and choroidal neovascularisation. ( 20972604 )
2011
19
In vivo confocal microscopic findings of 2 patients with Bietti crystalline corneoretinal dystrophy. ( 20299976 )
2010
20
Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene. ( 19508456 )
2010
21
Alterations in serum fatty acid concentrations and desaturase activities in Bietti crystalline dystrophy unaffected by CYP4V2 genotypes. ( 19797200 )
2010
22
Spectral OCT analysis in Bietti crystalline dystrophy. ( 20099228 )
2010
23
Bietti crystalline dystrophy with bilateral macular holes. ( 25389847 )
2009
24
A case of Bietti crystalline dystrophy with preserved visual acuity and extinguished electroretinogram: a case report. ( 19918507 )
2009
25
Long-term follow-up in Bietti crystalline dystrophy. ( 17671952 )
2007
26
Clinical and genetic heterogeneity of crystalline retinopathies: report of two families without bietti crystalline dystrophy. ( 25390987 )
2007
27
Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. ( 17249554 )
2006
28
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. ( 15937078 )
2005
29
Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. ( 16179904 )
2005
30
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. ( 15042513 )
2004

Variations for Bietti Crystalline Corneoretinal Dystrophy

UniProtKB/Swiss-Prot genetic disease variations for Bietti Crystalline Corneoretinal Dystrophy:

75
# Symbol AA change Variation ID SNP ID
1 CYP4V2 p.Trp44Arg VAR_023084 rs119103282
2 CYP4V2 p.Gly61Ser VAR_023085 rs119103285
3 CYP4V2 p.Glu79Asp VAR_023086 rs199476185
4 CYP4V2 p.Ile111Thr VAR_023087 rs119103283
5 CYP4V2 p.Met123Val VAR_023088 rs149684063
6 CYP4V2 p.His331Pro VAR_023089 rs199476197
7 CYP4V2 p.Ser341Pro VAR_023090 rs199476199
8 CYP4V2 p.Arg508His VAR_023091 rs119103284

ClinVar genetic disease variations for Bietti Crystalline Corneoretinal Dystrophy:

6 (show top 50) (show all 244)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP4V2 NM_207352.3(CYP4V2): c.130T> A (p.Trp44Arg) single nucleotide variant Pathogenic rs119103282 GRCh37 Chromosome 4, 187113107: 187113107
2 CYP4V2 NM_207352.3(CYP4V2): c.130T> A (p.Trp44Arg) single nucleotide variant Pathogenic rs119103282 GRCh38 Chromosome 4, 186191953: 186191953
3 CYP4V2 NM_207352.3(CYP4V2): c.332T> C (p.Ile111Thr) single nucleotide variant Pathogenic rs119103283 GRCh37 Chromosome 4, 187117161: 187117161
4 CYP4V2 NM_207352.3(CYP4V2): c.332T> C (p.Ile111Thr) single nucleotide variant Pathogenic rs119103283 GRCh38 Chromosome 4, 186196007: 186196007
5 CYP4V2 NM_207352.3(CYP4V2): c.1523G> A (p.Arg508His) single nucleotide variant Pathogenic rs119103284 GRCh37 Chromosome 4, 187131740: 187131740
6 CYP4V2 NM_207352.3(CYP4V2): c.1523G> A (p.Arg508His) single nucleotide variant Pathogenic rs119103284 GRCh38 Chromosome 4, 186210586: 186210586
7 CYP4V2 NM_207352.3(CYP4V2): c.181G> A (p.Gly61Ser) single nucleotide variant Pathogenic rs119103285 GRCh37 Chromosome 4, 187113158: 187113158
8 CYP4V2 NM_207352.3(CYP4V2): c.181G> A (p.Gly61Ser) single nucleotide variant Pathogenic rs119103285 GRCh38 Chromosome 4, 186192004: 186192004
9 CYP4V2 NM_207352.3(CYP4V2): c.1091-2A> G single nucleotide variant Pathogenic rs199476183 GRCh37 Chromosome 4, 187130017: 187130017
10 CYP4V2 NM_207352.3(CYP4V2): c.1091-2A> G single nucleotide variant Pathogenic rs199476183 GRCh38 Chromosome 4, 186208863: 186208863
11 CYP4V2 NM_207352.3(CYP4V2): c.1020G> A (p.Trp340Ter) single nucleotide variant Pathogenic rs199476198 GRCh37 Chromosome 4, 187126386: 187126386
12 CYP4V2 NM_207352.3(CYP4V2): c.1020G> A (p.Trp340Ter) single nucleotide variant Pathogenic rs199476198 GRCh38 Chromosome 4, 186205232: 186205232
13 CYP4V2 NM_207352.3(CYP4V2): c.1021T> C (p.Ser341Pro) single nucleotide variant Pathogenic rs199476199 GRCh37 Chromosome 4, 187126387: 187126387
14 CYP4V2 NM_207352.3(CYP4V2): c.1021T> C (p.Ser341Pro) single nucleotide variant Pathogenic rs199476199 GRCh38 Chromosome 4, 186205233: 186205233
15 CYP4V2 NM_207352.3(CYP4V2): c.1157A> C (p.Lys386Thr) single nucleotide variant Pathogenic rs199476200 GRCh37 Chromosome 4, 187130085: 187130085
16 CYP4V2 NM_207352.3(CYP4V2): c.1157A> C (p.Lys386Thr) single nucleotide variant Pathogenic rs199476200 GRCh38 Chromosome 4, 186208931: 186208931
17 CYP4V2 NM_207352.3(CYP4V2): c.1169G> A (p.Arg390His) single nucleotide variant Pathogenic rs199476201 GRCh37 Chromosome 4, 187130097: 187130097
18 CYP4V2 NM_207352.3(CYP4V2): c.1169G> A (p.Arg390His) single nucleotide variant Pathogenic rs199476201 GRCh38 Chromosome 4, 186208943: 186208943
19 CYP4V2 NM_207352.3(CYP4V2): c.1187C> T (p.Pro396Leu) single nucleotide variant Pathogenic rs199476202 GRCh37 Chromosome 4, 187130115: 187130115
20 CYP4V2 NM_207352.3(CYP4V2): c.1187C> T (p.Pro396Leu) single nucleotide variant Pathogenic rs199476202 GRCh38 Chromosome 4, 186208961: 186208961
21 CYP4V2 NM_207352.3(CYP4V2): c.1198C> T (p.Arg400Cys) single nucleotide variant Uncertain significance rs138444697 GRCh37 Chromosome 4, 187130126: 187130126
22 CYP4V2 NM_207352.3(CYP4V2): c.1198C> T (p.Arg400Cys) single nucleotide variant Uncertain significance rs138444697 GRCh38 Chromosome 4, 186208972: 186208972
23 CYP4V2 NM_207352.3(CYP4V2): c.1199G> A (p.Arg400His) single nucleotide variant Likely pathogenic rs199476203 GRCh37 Chromosome 4, 187130127: 187130127
24 CYP4V2 NM_207352.3(CYP4V2): c.1199G> A (p.Arg400His) single nucleotide variant Likely pathogenic rs199476203 GRCh38 Chromosome 4, 186208973: 186208973
25 CYP4V2 NM_207352.3(CYP4V2): c.1226-6_1235delTGACAGCAGGTTACAG deletion Pathogenic rs199476184 GRCh37 Chromosome 4, 187130241: 187130256
26 CYP4V2 NM_207352.3(CYP4V2): c.1226-6_1235delTGACAGCAGGTTACAG deletion Pathogenic rs199476184 GRCh38 Chromosome 4, 186209087: 186209102
27 CYP4V2 NM_207352.3(CYP4V2): c.1348C> T (p.Gln450Ter) single nucleotide variant Pathogenic rs199476204 GRCh37 Chromosome 4, 187130369: 187130369
28 CYP4V2 NM_207352.3(CYP4V2): c.1348C> T (p.Gln450Ter) single nucleotide variant Pathogenic rs199476204 GRCh38 Chromosome 4, 186209215: 186209215
29 CYP4V2 NM_207352.3(CYP4V2): c.1445C> A (p.Ser482Ter) single nucleotide variant Pathogenic rs146494374 GRCh37 Chromosome 4, 187131662: 187131662
30 CYP4V2 NM_207352.3(CYP4V2): c.1445C> A (p.Ser482Ter) single nucleotide variant Pathogenic rs146494374 GRCh38 Chromosome 4, 186210508: 186210508
31 CYP4V2 NM_207352.3(CYP4V2): c.1526C> T (p.Pro509Leu) single nucleotide variant Pathogenic rs199476205 GRCh37 Chromosome 4, 187131743: 187131743
32 CYP4V2 NM_207352.3(CYP4V2): c.1526C> T (p.Pro509Leu) single nucleotide variant Pathogenic rs199476205 GRCh38 Chromosome 4, 186210589: 186210589
33 CYP4V2 NM_207352.3(CYP4V2): c.237G> T (p.Glu79Asp) single nucleotide variant Uncertain significance rs199476185 GRCh37 Chromosome 4, 187115676: 187115676
34 CYP4V2 NM_207352.3(CYP4V2): c.237G> T (p.Glu79Asp) single nucleotide variant Uncertain significance rs199476185 GRCh38 Chromosome 4, 186194522: 186194522
35 CYP4V2 NM_207352.3(CYP4V2): c.253C> T (p.Arg85Cys) single nucleotide variant Pathogenic rs199476186 GRCh37 Chromosome 4, 187115692: 187115692
36 CYP4V2 NM_207352.3(CYP4V2): c.253C> T (p.Arg85Cys) single nucleotide variant Pathogenic rs199476186 GRCh38 Chromosome 4, 186194538: 186194538
37 CYP4V2 NM_207352.3(CYP4V2): c.283G> A (p.Gly95Arg) single nucleotide variant Pathogenic rs199476187 GRCh37 Chromosome 4, 187115722: 187115722
38 CYP4V2 NM_207352.3(CYP4V2): c.283G> A (p.Gly95Arg) single nucleotide variant Pathogenic rs199476187 GRCh38 Chromosome 4, 186194568: 186194568
39 CYP4V2 NM_207352.3(CYP4V2): c.327+1G> A single nucleotide variant Pathogenic rs199476182 GRCh37 Chromosome 4, 187115767: 187115767
40 CYP4V2 NM_207352.3(CYP4V2): c.327+1G> A single nucleotide variant Pathogenic rs199476182 GRCh38 Chromosome 4, 186194613: 186194613
41 CYP4V2 NM_207352.3(CYP4V2): c.335T> G (p.Leu112Ter) single nucleotide variant Pathogenic rs199476188 GRCh37 Chromosome 4, 187117164: 187117164
42 CYP4V2 NM_207352.3(CYP4V2): c.335T> G (p.Leu112Ter) single nucleotide variant Pathogenic rs199476188 GRCh38 Chromosome 4, 186196010: 186196010
43 CYP4V2 NM_207352.3(CYP4V2): c.367A> G (p.Met123Val) single nucleotide variant Uncertain significance rs149684063 GRCh37 Chromosome 4, 187117196: 187117196
44 CYP4V2 NM_207352.3(CYP4V2): c.367A> G (p.Met123Val) single nucleotide variant Uncertain significance rs149684063 GRCh38 Chromosome 4, 186196042: 186196042
45 CYP4V2 NM_207352.3(CYP4V2): c.400G> T (p.Gly134Ter) single nucleotide variant Pathogenic rs199476189 GRCh37 Chromosome 4, 187117229: 187117229
46 CYP4V2 NM_207352.3(CYP4V2): c.400G> T (p.Gly134Ter) single nucleotide variant Pathogenic rs199476189 GRCh38 Chromosome 4, 186196075: 186196075
47 CYP4V2 NM_207352.3(CYP4V2): c.518T> G (p.Leu173Trp) single nucleotide variant Pathogenic rs199476190 GRCh37 Chromosome 4, 187118198: 187118198
48 CYP4V2 NM_207352.3(CYP4V2): c.518T> G (p.Leu173Trp) single nucleotide variant Pathogenic rs199476190 GRCh38 Chromosome 4, 186197044: 186197044
49 CYP4V2 NM_207352.3(CYP4V2): c.64C> G (p.Leu22Val) single nucleotide variant Benign rs1055138 GRCh37 Chromosome 4, 187113041: 187113041
50 CYP4V2 NM_207352.3(CYP4V2): c.64C> G (p.Leu22Val) single nucleotide variant Benign rs1055138 GRCh38 Chromosome 4, 186191887: 186191887

Expression for Bietti Crystalline Corneoretinal Dystrophy

Search GEO for disease gene expression data for Bietti Crystalline Corneoretinal Dystrophy.

Pathways for Bietti Crystalline Corneoretinal Dystrophy

GO Terms for Bietti Crystalline Corneoretinal Dystrophy

Cellular components related to Bietti Crystalline Corneoretinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centriole GO:0005814 9.33 ALMS1 CEP290 IQCB1
2 Rab-protein geranylgeranyltransferase complex GO:0005968 8.96 CHM CHML
3 photoreceptor connecting cilium GO:0032391 8.8 CEP290 IQCB1 RPGRIP1

Biological processes related to Bietti Crystalline Corneoretinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.33 ALMS1 CEP290 IQCB1
2 eye photoreceptor cell development GO:0042462 9.26 CEP290 RPGRIP1
3 protein geranylgeranylation GO:0018344 8.96 CHM CHML
4 visual perception GO:0007601 8.92 CHM CYP4V2 PRPH2 RPGRIP1

Molecular functions related to Bietti Crystalline Corneoretinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GDP-dissociation inhibitor activity GO:0005092 8.62 CHM CHML

Sources for Bietti Crystalline Corneoretinal Dystrophy

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10 dbSNP
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