BCD
MCID: BTT001
MIFTS: 48

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 58 12 25 54 26 60 76 38 30 13 6 15 74
Bietti Crystalline Dystrophy 58 25 26 60 76
Bcd 58 54 26 60 76
Bietti Tapetoretinal Degeneration with Marginal Corneal Dystrophy 58 54 26 76
Bietti Crystalline Retinopathy 25 26 60
Dystrophy, Corneoretinal, Crystalline, Bietti 41
Bietti's Crystalline Dystrophy 12
Crystalline Retinopathy 76

Characteristics:

Orphanet epidemiological data:

60
bietti crystalline dystrophy
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
bietti crystalline corneoretinal dystrophy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050664
OMIM 58 210370
KEGG 38 H02107
MESH via Orphanet 46 C535440
ICD10 via Orphanet 35 H15.5
UMLS via Orphanet 75 C1859486
Orphanet 60 ORPHA41751
MedGen 43 C1859486
UMLS 74 C1859486

Summaries for Bietti Crystalline Corneoretinal Dystrophy

OMIM : 58 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), and among its related pathways/superpathways is RAB geranylgeranylation. The drugs Pyridoxine 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 : 26 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 : 54 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 : 76 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 : 77 Bietti''s crystalline dystrophy (BCD), also called Bietti crystalline corneoretinal dystrophy, is a rare... more...

GeneReviews: NBK91457

Related Diseases for Bietti Crystalline Corneoretinal Dystrophy

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:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 high myopia 33 occasional (7.5%) HP:0011003
2 progressive visual loss 33 HP:0000529
3 constriction of peripheral visual field 33 HP:0001133
4 abnormality of blood and blood-forming tissues 33 HP:0001871
5 progressive night blindness 33 HP:0007675
6 chorioretinal atrophy 33 HP:0000533
7 retinal degeneration 33 HP:0000546
8 marginal corneal dystrophy 33 HP:0007880
9 paracentral scotoma 33 HP:0030528

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
retinal degeneration
night blindness, progressive
attenuated retinal vessels
decreased visual acuity, progressive
visual field constriction
more
Hematology:
lipid inclusions in lymphocytes

Clinical features from OMIM:

210370

MGI Mouse Phenotypes related to Bietti Crystalline Corneoretinal Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.35 ALMS1 CEP290 CHM CTNNA1 NMNAT1
2 vision/eye MP:0005391 9.1 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
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
2
Pyridoxal Phosphate Approved, Investigational, Nutraceutical 54-47-7 1051
3
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262
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 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 30 CYP4V2

Anatomical Context for Bietti Crystalline Corneoretinal Dystrophy

MalaCards organs/tissues related to Bietti Crystalline Corneoretinal Dystrophy:

42
Retina, Eye, Skin, Breast, Lymph Node, Thyroid, Cortex

Publications for Bietti Crystalline Corneoretinal Dystrophy

Articles related to Bietti Crystalline Corneoretinal Dystrophy:

(show top 50) (show all 77)
# Title Authors Year
1
Synthetic study of andrastins: stereoselective construction of the BCD-ring system. ( 30651585 )
2019
2
Application of leucine dehydrogenase Bcd from Bacillus subtilis for l-valine synthesis in Escherichia coli under microaerobic conditions. ( 30993221 )
2019
3
The BCD of response time analysis in experimental economics. ( 29720889 )
2018
4
BCD Beam Search: considering suboptimal partial solutions in Bad Clade Deletion supertrees. ( 29900080 )
2018
5
Synthesis of the seco-Limonoid BCD Ring System Identifies a Hsp90 Chaperon Machinery (p23) Inhibitor. ( 30570197 )
2018
6
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy. ( 28051075 )
2017
7
Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features. ( 28181393 )
2017
8
Once-Weekly 1.6 mg/m2 Bortezomib BCD Regimen in Elderly Patients with Newly Diagnosed Multiple Myeloma Who are Unfit for Standard Dose Chemotherapy. ( 28194052 )
2017
9
Predictability or controllability: Which matters more for the BCD? ( 29342756 )
2017
10
Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy. ( 26971461 )
2016
11
Synthesis of the BCD Tricyclic Core of Densanins A and B. ( 27065219 )
2016
12
Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients. ( 26085992 )
2015
13
Viability of a [2 + 2 + 1] Hetero-Pauson-Khand Cycloaddition Strategy toward Securinega Alkaloids: Synthesis of the BCD-Ring Core of Securinine and Related Alkaloids. ( 26098882 )
2015
14
A novel sample preparation and on-line HPLC-DAD-MS/MS-BCD analysis for rapid screening and characterization of specific enzyme inhibitors in herbal extracts: case study of α-glucosidase. ( 24055848 )
2014
15
Studies on the mechanism of electron bifurcation catalyzed by electron transferring flavoprotein (Etf) and butyryl-CoA dehydrogenase (Bcd) of Acidaminococcus fermentans. ( 24379410 )
2014
16
Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature. ( 24719364 )
2014
17
Concise synthesis of the A/BCD-ring fragment of gambieric acid A. ( 25629027 )
2014
18
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. ( 23661369 )
2013
19
First studies directed towards the diastereoselective synthesis of the BCD tricyclic core of brownin F. ( 23677035 )
2013
20
Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa. ( 22693542 )
2012
21
A tandem 1,3-H-shift-6π-electrocyclization-cyclic 2-amido-diene intramolecular Diels-Alder cycloaddition approach to BCD-Ring of atropurpuran. ( 22149386 )
2012
22
Tetranaphthyleno[5,6-bcd:11,12-b'c'd':17,18-b''c''d'':23,24-b'''c'''d''']tetrafuran. ( 23124464 )
2012
23
Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. ( 21565171 )
2011
24
Does the broad categories for the diagnosis of eating disorders (BCD-ED) scheme reduce the frequency of eating disorder not otherwise specified? ( 21997426 )
2011
25
The removal of some rare earth elements from their aqueous solutions on by-pass cement dust (BCD). ( 21924551 )
2011
26
Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene. ( 19508456 )
2010
27
In vivo confocal microscopic findings of 2 patients with Bietti crystalline corneoretinal dystrophy. ( 20299976 )
2010
28
A novel, versatile D-->BCD steroid construction strategy, illustrated by the enantioselective total synthesis of estrone. ( 20095590 )
2010
29
Synthetic studies on daphnicyclidin A: enantiocontrolled construction of the BCD ring system. ( 19320481 )
2009
30
Analysis of glutathione adducts of patulin by means of liquid chromatography (HPLC) with biochemical detection (BCD) and electrospray ionization tandem mass spectrometry (ESI-MS/MS). ( 19390846 )
2009
31
Broad categories for the diagnosis of eating disorders (BCD-ED): an alternative system for classification. ( 19650083 )
2009
32
Intramolecular cyclopropene-furan [2 + 4] cycloaddition followed by a cyclopropylcarbinyl rearrangement to synthesize the BCD rings of cortistatin A. ( 19655736 )
2009
33
Studies on polynuclear furoquinones. Part 1: synthesis of tri- and tetra-cyclic furoquinones simulating BCD/ABCD ring system of furoquinone diterpenoids. ( 19936265 )
2009
34
Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. ( 17249554 )
2006
35
Blepharo-cheilo-dontic (BCD) syndrome: case report. ( 16526930 )
2006
36
First identification of benzo[ghi]naphtho[8,1,2-bcd]perylene as a product of fuel pyrolysis, using high-performance liquid chromatography with diode-array ultraviolet-visible absorbance detection and mass spectrometry. ( 16814309 )
2006
37
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. ( 15937078 )
2005
38
Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. ( 16179904 )
2005
39
Single (B or C), dual (BC or BD) and triple (BCD) viral hepatitis in HIV-infected patients in Madrid, Spain. ( 16103766 )
2005
40
BCD centers set the college apart. ( 16022481 )
2005
41
BCD program gives students a glimpse into life after dental school. ( 16022483 )
2005
42
Recognition of the bcd mRNA localization signal in Drosophila embryos and ovaries. ( 15684399 )
2005
43
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. ( 15042513 )
2004
44
Complestatin synthetic studies; the effect of the amino acid configuration on peptide backbone conformation in the common western BCD macrocycle. ( 15026053 )
2004
45
Radical and palladium-catalyzed cyclizations to cyclobutenes: an entry to the BCD ring system of penitrem D. ( 15153001 )
2004
46
Rapid screening for depression--validation of the Brief Case-Find for Depression (BCD) in medical oncology and palliative care patients. ( 15305199 )
2004
47
Blepharo-cheilo-dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes. ( 15389707 )
2004
48
Samarium(II) iodide mediated radical/polar crossover reactions of cyclobutenes. An efficient approach to the BCD ring system of the penitrems. ( 12583733 )
2003
49
Blepharocheilodontic (BCD) syndrome: expanding the phenotype? ( 12923869 )
2003
50
Efficient synthesis of a tricyclic BCD analogue of ouabain: Lewis acid catalyzed Diels-Alder reactions of sterically hindered systems. ( 12412103 )
2002

Variations for Bietti Crystalline Corneoretinal Dystrophy

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

76
# 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 242)
# 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

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

# Super pathways Score Top Affiliating Genes
1 10.44 CHM CHML

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 CEP290 IQCB1
2 centriole GO:0005814 9.13 ALMS1 CEP290 IQCB1
3 Rab-protein geranylgeranyltransferase complex GO:0005968 8.62 CHM CHML

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 9.13 ALMS1 CEP290 IQCB1
2 protein geranylgeranylation GO:0018344 8.62 CHM CHML

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

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 8.96 CYP4F2 CYP4V2
2 GDP-dissociation inhibitor activity GO:0005092 8.62 CHM CHML

Sources for Bietti Crystalline Corneoretinal Dystrophy

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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