BCD
MCID: BTT001
MIFTS: 49

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 74 37 29 13 6 15 72
Bietti Crystalline Dystrophy 57 24 25 59 74
Bcd 57 53 25 59 74
Bietti Tapetoretinal Degeneration with Marginal Corneal Dystrophy 57 53 25 74
Bietti Crystalline Retinopathy 24 25 59
Dystrophy, Corneoretinal, Crystalline, Bietti 40
Bietti's Crystalline Dystrophy 12
Crystalline Retinopathy 74

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:

Disease Ontology 12 DOID:0050664
OMIM 57 210370
KEGG 37 H02107
MESH via Orphanet 45 C535440
ICD10 via Orphanet 34 H15.5
UMLS via Orphanet 73 C1859486
Orphanet 59 ORPHA41751
MedGen 42 C1859486
UMLS 72 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 yemenite deaf-blind hypopigmentation syndrome and retinitis pigmentosa. An important gene associated with Bietti Crystalline Corneoretinal Dystrophy is CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2), and among its related pathways/superpathways is the visual cycle I (vertebrates). The drugs Ornithine and Pyridoxal Phosphate have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and skin, and related phenotypes are high myopia and progressive visual loss

Disease Ontology : 12 A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.

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. People with Bietti crystalline dystrophy typically begin noticing vision problems in their teens or twenties. They experience a loss of sharp vision (reduction in visual acuity) and difficulty seeing in dim light (night blindness). They usually lose areas of vision (visual field loss), most often side (peripheral) vision. Color vision may also be impaired. The vision problems may worsen at different rates in each eye, and the severity and progression of symptoms varies widely among affected individuals, even within the same family. However, most people with this condition become legally blind by their forties or fifties. Most affected individuals retain some degree of vision, usually in the center of the visual field, although it is typically blurry and cannot be corrected by glasses or contact lenses. Vision impairment that cannot be improved with corrective lenses is called low vision.

NIH Rare Diseases : 53 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.

KEGG : 37
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. BCD usually occurs in the second or third decade of life. CYP4V2 has been identified as the causative gene for BCD.

UniProtKB/Swiss-Prot : 74 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.

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 top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 31.2 CHM CEP290 ABCA4
2 retinitis pigmentosa 29.0 NMNAT1 IQCB1 FLJ38576 CYP4V2 CHM CEP290
3 fundus dystrophy 28.8 NMNAT1 IQCB1 CYP4V2 CHM CEP290 ALMS1
4 blepharocheilodontic syndrome 1 12.4
5 night blindness 10.8
6 retinal degeneration 10.7
7 choroidal dystrophy, central areolar, 1 10.6
8 macular holes 10.5
9 autosomal recessive disease 10.5
10 neuroretinitis 10.5
11 retinitis 10.5
12 eye disease 10.5
13 retinal disease 10.5
14 inherited retinal disorder 10.5
15 cleft lip 10.4
16 cleft lip/palate 10.4
17 macular retinal edema 10.4
18 tooth agenesis 10.4
19 ectropion 10.4
20 euryblepharon 10.4
21 distichiasis 10.3
22 leber congenital amaurosis 10 10.3 IQCB1 CEP290
23 retinal aplasia 10.2 IQCB1 CEP290
24 retinoschisis 1, x-linked, juvenile 10.2
25 cone dystrophy 10.2
26 nephronophthisis 16 10.2 IQCB1 CEP290
27 lysosomal acid lipase deficiency 10.2
28 keratopathy 10.2
29 corneal dystrophy 10.2
30 lipid metabolism disorder 10.2
31 inherited metabolic disorder 10.2
32 scotoma 10.2
33 47,xyy 10.2
34 nephronophthisis 11 10.2 IQCB1 CEP290
35 retinitis pigmentosa 3 10.2 IQCB1 ABCA4
36 anus, imperforate 10.2
37 eating disorder 10.2
38 retinal detachment 10.2
39 primary hyperoxaluria 10.2
40 cone-rod dystrophy 2 10.1 IQCB1 CYP4V2 ABCA4
41 hair whorl 10.0
42 leukemia, chronic lymphocytic 10.0
43 myeloma, multiple 10.0
44 osteogenic sarcoma 10.0
45 postaxial acrofacial dysostosis 10.0
46 taurodontism 10.0
47 anorexia nervosa 10.0
48 bulimia nervosa 10.0
49 myelomeningocele 10.0
50 acrofacial dysostosis 10.0

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

Human phenotypes related to Bietti Crystalline Corneoretinal Dystrophy:

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinal degeneration
marginal corneal dystrophy
night blindness, progressive
attenuated retinal vessels
decreased visual acuity, progressive
more
Hematology:
lipid inclusions in lymphocytes

Clinical features from OMIM:

210370

MGI Mouse Phenotypes related to Bietti Crystalline Corneoretinal Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.43 ABCA4 ALMS1 CEP290 CHM CTNNA1 NMNAT1
2 vision/eye MP:0005391 9.17 ABCA4 ALMS1 CEP290 CHM CTNNA1 CYP4V2

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
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262
2
Pyridoxal Phosphate Approved, Investigational, Nutraceutical 54-47-7 1051
3
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
4 Vitamin B 6
5 arginine
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 The Diagnosis, Pathogenesis and Treatment of 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 top 50) (show all 97)
# Title Authors PMID Year
1
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. 38 4 8 71
15937078 2005
2
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. 38 4 8 71
15042513 2004
3
Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa. 38 8 71
22693542 2012
4
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. 8 71
23661369 2013
5
Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD). 38 4 8
9787106 1998
6
Bietti's crystalline corneoretinal dystrophy: a cross-sectional study. 4 8
15187665 2004
7
Bietti's crystalline dystrophy. A clinicopathologic correlative study. 4 8
2783846 1989
8
Bietti's tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy. 4 8
306693 1977
9
Bietti Crystalline Dystrophy 38 71
22497028 2012
10
Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. 38 8
11001583 2000
11
Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2. 38 4
28698241 2018
12
Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy. 38 4
30429639 2018
13
UTILIZATION OF FUNDUS AUTOFLUORESCENCE, SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY, AND ENHANCED DEPTH IMAGING IN THE CHARACTERIZATION OF BIETTI CRYSTALLINE DYSTROPHY IN DIFFERENT STAGES. 38 4
25978730 2015
14
Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients. 38 4
26085992 2015
15
Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy. 38 4
24480711 2014
16
Optical coherence tomographic findings of crystal deposits in the lens and cornea in Bietti crystalline corneoretinopathy associated with mutation in the CYP4V2 gene. 38 4
23793346 2013
17
Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation. 38 4
23538635 2013
18
An atypical form of Bietti crystalline dystrophy. 38 4
21385027 2011
19
Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. 38 4
21565171 2011
20
Bietti crystalline dystrophy and choroidal neovascularisation. 38 4
20972604 2011
21
Alterations in serum fatty acid concentrations and desaturase activities in Bietti crystalline dystrophy unaffected by CYP4V2 genotypes. 38 4
19797200 2010
22
Long-term follow-up in Bietti crystalline dystrophy. 38 4
17671952 2007
23
Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. 38 4
16186368 2005
24
Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. 38 4
16179904 2005
25
The metabolism of fatty acids in human Bietti crystalline dystrophy. 38 4
11431432 2001
26
Bietti's tapetoretinal degeneration with marginal corneal dystrophy (crystalline retinopathy): case report. 8
3493804 1987
27
Crystalline retinopathy. 8
6494635 1984
28
Crystalline retinopathy. 8
677237 1978
29
Bietti's tapetoretinal degeneration with marginal corneal dystrophy. 8
5299874 1968
30
Specific regulation of thermosensitive lipid droplet fusion by a nuclear hormone receptor pathway. 4
28760992 2017
31
A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype. 4
27348340 2017
32
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. 4
28453600 2017
33
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy. 4
25629076 2015
34
Ocular cytochrome P450s and transporters: roles in disease and endobiotic and xenobiotic disposition. 4
24856391 2014
35
Outer retinal circular structures in patients with Bietti crystalline retinopathy. 4
21803923 2012
36
Bietti crystalline retinal dystrophy with subfoveal neurosensory detachment and congenital tortuosity of retinal vessels: case report. 4
21611771 2011
37
New gene variants associated with venous thrombosis: a replication study in White and Black Americans. 4
21232005 2011
38
High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. 4
20139800 2010
39
Outer retinal tubulation: a novel optical coherence tomography finding. 4
20008714 2009
40
Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase. 4
19661213 2009
41
Genetic variants associated with deep vein thrombosis: the F11 locus. 4
19583818 2009
42
Posterior scleral reinforcement in the treatment of macular retinoschisis in highly myopic patients. 4
19788661 2009
43
Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. 4
19278955 2009
44
Cytochrome P450 omega hydroxylase (CYP4) function in fatty acid metabolism and metabolic diseases. 4
18433732 2008
45
Functional and clinical findings in 3 female siblings with crystalline retinopathy. 4
17962988 2008
46
Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy. 4
18398705 2008
47
Gene variants associated with deep vein thrombosis. 4
18349091 2008
48
Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations. 4
17962476 2007
49
Peripapillary choroidal neovascularization in Bietti crystalline retinopathy. 4
17173010 2007
50
Retinitis pigmentosa. 4
17113430 2006

Variations for Bietti Crystalline Corneoretinal Dystrophy

ClinVar genetic disease variations for Bietti Crystalline Corneoretinal Dystrophy:

6 (show top 50) (show all 123)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CYP4V2 NM_207352.4(CYP4V2): c.130T> A (p.Trp44Arg) single nucleotide variant Pathogenic rs119103282 4:187113107-187113107 4:186191953-186191953
2 CYP4V2 NM_207352.4(CYP4V2): c.332T> C (p.Ile111Thr) single nucleotide variant Pathogenic rs119103283 4:187117161-187117161 4:186196007-186196007
3 CYP4V2 NM_207352.4(CYP4V2): c.1523G> A (p.Arg508His) single nucleotide variant Pathogenic rs119103284 4:187131740-187131740 4:186210586-186210586
4 CYP4V2 NM_207352.4(CYP4V2): c.181G> A (p.Gly61Ser) single nucleotide variant Pathogenic rs119103285 4:187113158-187113158 4:186192004-186192004
5 CYP4V2 NM_207352.4(CYP4V2): c.1091-2A> G single nucleotide variant Pathogenic rs199476183 4:187130017-187130017 4:186208863-186208863
6 CYP4V2 NM_207352.4(CYP4V2): c.1396A> G (p.Asn466Asp) single nucleotide variant Pathogenic rs797045181 4:187130417-187130417 4:186209263-186209263
7 CYP4V2 NM_207352.4(CYP4V2): c.992A> C (p.His331Pro) single nucleotide variant Pathogenic rs199476197 4:187126358-187126358 4:186205204-186205204
8 CYP4V2 NM_207352.4(CYP4V2): c.974C> T (p.Thr325Ile) single nucleotide variant Pathogenic rs199476196 4:187122483-187122483 4:186201329-186201329
9 CYP4V2 NM_207352.4(CYP4V2): c.971A> T (p.Asp324Val) single nucleotide variant Pathogenic rs199476195 4:187122480-187122480 4:186201326-186201326
10 CYP4V2 NM_207352.4(CYP4V2): c.958C> T (p.Arg320Ter) single nucleotide variant Pathogenic rs199476194 4:187122467-187122467 4:186201313-186201313
11 CYP4V2 NM_207352.4(CYP4V2): c.761A> G (p.His254Arg) single nucleotide variant Pathogenic rs199476193 4:187120197-187120197 4:186199043-186199043
12 CYP4V2 NM_207352.4(CYP4V2): c.759dup (p.His254fs) duplication Pathogenic rs199476192 4:187120195-187120195 4:186199041-186199041
13 CYP4V2 NM_207352.4(CYP4V2): c.655T> C (p.Tyr219His) single nucleotide variant Pathogenic rs199476191 4:187118737-187118737 4:186197583-186197583
14 CYP4V2 NM_207352.4(CYP4V2): c.518T> G (p.Leu173Trp) single nucleotide variant Pathogenic rs199476190 4:187118198-187118198 4:186197044-186197044
15 CYP4V2 NM_207352.4(CYP4V2): c.400G> T (p.Gly134Ter) single nucleotide variant Pathogenic rs199476189 4:187117229-187117229 4:186196075-186196075
16 CYP4V2 NM_207352.4(CYP4V2): c.335T> G (p.Leu112Ter) single nucleotide variant Pathogenic rs199476188 4:187117164-187117164 4:186196010-186196010
17 CYP4V2 NM_207352.4(CYP4V2): c.327+1G> A single nucleotide variant Pathogenic rs199476182 4:187115767-187115767 4:186194613-186194613
18 CYP4V2 NM_207352.4(CYP4V2): c.283G> A (p.Gly95Arg) single nucleotide variant Pathogenic rs199476187 4:187115722-187115722 4:186194568-186194568
19 CYP4V2 NM_207352.4(CYP4V2): c.253C> T (p.Arg85Cys) single nucleotide variant Pathogenic rs199476186 4:187115692-187115692 4:186194538-186194538
20 CYP4V2 NM_207352.4(CYP4V2): c.1187C> T (p.Pro396Leu) single nucleotide variant Pathogenic rs199476202 4:187130115-187130115 4:186208961-186208961
21 CYP4V2 NM_207352.4(CYP4V2): c.1169G> A (p.Arg390His) single nucleotide variant Pathogenic rs199476201 4:187130097-187130097 4:186208943-186208943
22 CYP4V2 NM_207352.4(CYP4V2): c.1157A> C (p.Lys386Thr) single nucleotide variant Pathogenic rs199476200 4:187130085-187130085 4:186208931-186208931
23 CYP4V2 NM_207352.4(CYP4V2): c.1021T> C (p.Ser341Pro) single nucleotide variant Pathogenic rs199476199 4:187126387-187126387 4:186205233-186205233
24 CYP4V2 NM_207352.4(CYP4V2): c.1020G> A (p.Trp340Ter) single nucleotide variant Pathogenic rs199476198 4:187126386-187126386 4:186205232-186205232
25 ABCA4 NM_000350.3(ABCA4): c.3210_3211dup (p.Ser1071fs) duplication Pathogenic rs387906385 1:94508434-94508435 1:94042878-94042879
26 CYP4V2 NM_207352.4(CYP4V2): c.1526C> T (p.Pro509Leu) single nucleotide variant Pathogenic rs199476205 4:187131743-187131743 4:186210589-186210589
27 CYP4V2 NM_207352.4(CYP4V2): c.1445C> A (p.Ser482Ter) single nucleotide variant Pathogenic rs146494374 4:187131662-187131662 4:186210508-186210508
28 CYP4V2 NM_207352.4(CYP4V2): c.1348C> T (p.Gln450Ter) single nucleotide variant Pathogenic rs199476204 4:187130369-187130369 4:186209215-186209215
29 CYP4V2 NM_207352.4(CYP4V2): c.1226-6_1235del deletion Pathogenic rs199476184 4:187130241-187130256 4:186209087-186209102
30 CYP4V2 NM_207352.4(CYP4V2): c.1199G> A (p.Arg400His) single nucleotide variant Likely pathogenic rs199476203 4:187130127-187130127 4:186208973-186208973
31 CYP4V2 NM_207352.4(CYP4V2): c.802-8_810delinsGC indel Conflicting interpretations of pathogenicity rs207482233 4:187122303-187122319 4:186201149-186201165
32 CYP4V2 NM_207352.4(CYP4V2): c.*4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs76978024 4:187131799-187131799 4:186210645-186210645
33 CYP4V2 NM_207352.4(CYP4V2): c.1446G> A (p.Ser482=) single nucleotide variant Conflicting interpretations of pathogenicity rs141950964 4:187131663-187131663 4:186210509-186210509
34 CYP4V2 NM_207352.4(CYP4V2): c.*364T> A single nucleotide variant Uncertain significance rs7697077 4:187132159-187132159 4:186211005-186211005
35 CYP4V2 NM_207352.4(CYP4V2): c.*715C> T single nucleotide variant Uncertain significance rs770372165 4:187132510-187132510 4:186211356-186211356
36 CYP4V2 NM_207352.4(CYP4V2): c.*1025_*1026CA[19] short repeat Uncertain significance rs60425964 4:187132846-187132851 4:186211692-186211697
37 CYP4V2 NM_207352.4(CYP4V2): c.*1053C> T single nucleotide variant Uncertain significance rs62348765 4:187132848-187132848 4:186211694-186211694
38 CYP4V2 NM_207352.4(CYP4V2): c.*1056_*1057insCATACA insertion Uncertain significance rs1554075269 4:187132851-187132852 4:186211697-186211698
39 CYP4V2 NM_207352.4(CYP4V2): c.*1123_*1127del deletion Uncertain significance rs574084304 4:187132918-187132922 4:186211764-186211768
40 CYP4V2 NM_207352.4(CYP4V2): c.*1159T> A single nucleotide variant Uncertain significance rs565805219 4:187132954-187132954 4:186211800-186211800
41 CYP4V2 NM_207352.4(CYP4V2): c.1225+14A> G single nucleotide variant Uncertain significance rs886059282 4:187130167-187130167 4:186209013-186209013
42 CYP4V2 NM_207352.4(CYP4V2): c.1289C> T (p.Pro430Leu) single nucleotide variant Uncertain significance rs144008429 4:187130310-187130310 4:186209156-186209156
43 CYP4V2 NM_207352.4(CYP4V2): c.1338C> G (p.Pro446=) single nucleotide variant Uncertain significance rs35524919 4:187130359-187130359 4:186209205-186209205
44 CYP4V2 NM_207352.4(CYP4V2): c.1423A> G (p.Met475Val) single nucleotide variant Uncertain significance rs762821992 4:187131640-187131640 4:186210486-186210486
45 CYP4V2 NM_207352.4(CYP4V2): c.*2176T> C single nucleotide variant Uncertain significance rs543284486 4:187133971-187133971 4:186212817-186212817
46 CYP4V2 NM_207352.4(CYP4V2): c.*2622A> T single nucleotide variant Uncertain significance rs561265305 4:187134417-187134417 4:186213263-186213263
47 CYP4V2 NM_207352.4(CYP4V2): c.237G> T (p.Glu79Asp) single nucleotide variant Uncertain significance rs199476185 4:187115676-187115676 4:186194522-186194522
48 CYP4V2 NM_207352.4(CYP4V2): c.367A> G (p.Met123Val) single nucleotide variant Uncertain significance rs149684063 4:187117196-187117196 4:186196042-186196042
49 CYP4V2 NM_207352.4(CYP4V2): c.-56C> G single nucleotide variant Uncertain significance rs886059280 4:187112922-187112922 4:186191768-186191768
50 CYP4V2 NM_207352.4(CYP4V2): c.163C> A (p.Arg55Ser) single nucleotide variant Uncertain significance rs760001831 4:187113140-187113140 4:186191986-186191986

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

74
# 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

Expression for Bietti Crystalline Corneoretinal Dystrophy

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

Pathways for Bietti Crystalline Corneoretinal Dystrophy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.36 CYP4V2 ABCA4

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 photoreceptor connecting cilium GO:0032391 9.16 IQCB1 CEP290
2 centriole GO:0005814 9.13 IQCB1 CEP290 ALMS1
3 Rab-protein geranylgeranyltransferase complex GO:0005968 8.62 CHML CHM

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.33 CYP4V2 CHM ABCA4
2 retinoid metabolic process GO:0001523 9.32 CYP4V2 ABCA4
3 photoreceptor cell maintenance GO:0045494 9.26 IQCB1 ABCA4
4 ciliary basal body-plasma membrane docking GO:0097711 9.13 IQCB1 CEP290 ALMS1
5 protein geranylgeranylation GO:0018344 8.62 CHML CHM

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 CHML CHM

Sources for Bietti Crystalline Corneoretinal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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