MCID: BTT001
MIFTS: 35

Bietti Crystalline Corneoretinal Dystrophy malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Bietti Crystalline Corneoretinal Dystrophy

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Aliases & Descriptions for Bietti Crystalline Corneoretinal Dystrophy:

Name: Bietti Crystalline Corneoretinal Dystrophy 50 11 22 46 23 24 13 52 68 25 12 66
Bietti Crystalline Dystrophy 22 23 24 52 68
Bietti Crystalline Retinopathy 22 23 24 52
Bcd 46 24 52 68
 
Bietti Tapetoretinal Degeneration with Marginal Corneal Dystrophy 46 24 68
Bietti's Crystalline Dystrophy 11
Crystalline Retinopathy 68

Characteristics:

Orphanet epidemiological data:

52
bietti crystalline corneoretinal dystrophy:
Inheritance: Autosomal recessive

HPO:

62
bietti crystalline corneoretinal dystrophy:
Inheritance: autosomal recessive inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 210370
Disease Ontology11 DOID:0050664
Orphanet52 ORPHA41751
ICD10 via Orphanet29 H15.5
MESH via Orphanet38 C535440
MedGen35 C1859486

Summaries for Bietti Crystalline Corneoretinal Dystrophy

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OMIM:50 Bietti crystalline corneoretinal dystrophy is an autosomal recessive retinal dystrophy characterized by numerous tiny... (210370) more...

MalaCards based summary: Bietti Crystalline Corneoretinal Dystrophy, also known as bietti crystalline dystrophy, is related to blepharocheilodontic syndrome and choroiditis, and has symptoms including severe myopia, progressive visual loss and chorioretinal atrophy. An important gene associated with Bietti Crystalline Corneoretinal Dystrophy is CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2). Affiliated tissues include retina, eye and skin.

Genetics Home Reference:24 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:46 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

UniProtKB/Swiss-Prot:68 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 summary for NBK91457

Related Diseases for Bietti Crystalline Corneoretinal Dystrophy

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

idRelated DiseaseScoreTop Affiliating Genes
1blepharocheilodontic syndrome11.1
2choroiditis10.3
3retinoschisis10.1
4juvenile retinoschisis10.1
5retinitis pigmentosa10.1
6retinitis10.1
7primary hyperoxaluria10.0
8eating disorder10.0
9dwarfism10.0
10microphthalmia, isolated, with coloboma 99.5CYP4V2, PPIG

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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Symptoms by clinical synopsis from OMIM:

210370

Clinical features from OMIM:

210370

HPO human phenotypes related to Bietti Crystalline Corneoretinal Dystrophy:

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

Drugs & Therapeutics for Bietti Crystalline Corneoretinal Dystrophy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pyridoxal Phosphate1454-47-71051
Synonyms:
(4-Formyl-5-hydroxy-6-methyl(3-pyridyl))methyl dihydrogen phosphate
(4-formyl-5-hydroxy-6-methyl-3-pyridinyl)methyl dihydrogen phosphate
(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl dihydrogen phosphate
2-Methyl-3-hydroxy-4-formyl-5-hydroxymethylpyridine-5-calcium phosphate
2-Methyl-3-hydroxy-4-formyl-5-hydroxymethylpyridine-5-calcium phosphate trihydrate
2-Methyl-3-hydroxy-4-formyl-5-pyridylmethylphosphoric acid
3-Hydroxy-2-methyl-5-((phosphonooxy)methyl)-4-pyridinecarboxaldehyde
3-Hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate
3-hydroxy-2-methyl-5-((phosphonooxy)methyl)-4-pyridinecarboxaldehyde
3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]-4-pyridinecarboxaldehyde
3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate
4-Formyl-5-hydroxy-6-methyl-pyridin-3-yl)methoxyphosphonic acid
4-Pyridinecarboxaldehyde, 3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]- (9CI)
52064-48-9
52441-27-7
54-47-7
A26BDB6A-282A-4D13-A916-7B2B215B0FD6
AC1L1AM8
AC1Q2P2R
Apolon B(sub 6)
Apolon B6
Biosechs
C00018
CHEBI:18405
CHEMBL82202
CID1051
Codecarboxylase
Coenzyme B6
DB00114
EINECS 200-208-3
HI-Pyridoxin
Hairoxal
Hexermin P
Hexermin-P
Hi-Pyridoxin
Hiadelon
Himitan
Isonicotinaldehyde, 3-hydroxy-5-(hydroxymethyl)-2-methyl-, 5-(dihydrogen phosphate)
LS-134383
MolPort-003-939-335
NCGC00166300-01
NSC 82388
NSC82388
P-5'-P
PAL-P
PLP
PYRIDOXAL-5-PHOSPHATE
Pal-P
Phosphopyridoxal
Phosphopyridoxal coenzyme
Phosphoric acid mono-(4-formyl-5-hydroxy-6-methyl-pyridin-3-ylmethyl) ester
 
Phosphoridoxal coenzyme
Pidopidon
Piodel
Pydoxal
Pyrido
Pyridoxal 5'-(dihydrogen phosphate)
Pyridoxal 5'-phosphate
Pyridoxal 5'-phosphate hydrate
Pyridoxal 5'-phosphate monohydrate - Vitamin B6
Pyridoxal 5'-phosphate monohydrate, vitamin B6
Pyridoxal 5-monophosphoric acid ester
Pyridoxal 5-phosphate
Pyridoxal P
Pyridoxal monophosphate
Pyridoxal phosphate
Pyridoxal phosphate (6CI)
Pyridoxal phosphate [JAN]
Pyridoxal phosphate anhydrous
Pyridoxal phosphate treated .beta.-lactoglobulin from bovine whey
Pyridoxal, 5-(dihydrogen phosphate)
Pyridoxal, 5-(dihydrogen phosphate) (8CI)
Pyridoxal, 5-(dihydrogenphosphate)
Pyridoxal-5'-phosphate
Pyridoxal-5-Phosphate Hydrate
Pyridoxal-5-monophosphate
Pyridoxal-5P
Pyridoxal-P
Pyridoxaldehyde phosphate
Pyridoxyl phosphate
Pyromijin
SBB065295
SGCUT00188
SRI 2392
Sechvitan
Sechvitan, Vitahexin P
TL8005582
VITAMIN B6 COMPLEX
Vitahexin P
Vitahexin-P
Vitamin B6 phosphate
Vitamin B6 phosphate (ester)
Vitazechs
bmse000111
nchembio.237-comp3
nchembio.266-comp20
nchembio861-comp1
pyridoxal 5-monophosphoric acid ester
pyridoxal 5'-phosphate
pyridoxal 5-phosphate
pyridoxal phosphate
pyridoxal-5P
pyridoxal-P
to_000077
2
PyridoxineNutraceutical18065-23-61054
Synonyms:
(5-hydroxy-4,6-dimethylpyridin-3-yl)methyl phosphate
12001-78-4
2-Methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine
2-Methyl-3-hydroxy-4,5-di(hydroxymethyl)pyridine
2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin
2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin [German]
2-Methyl-3-hydroxy-4,5-dihydroxymethylpyridine
2-Methyl-4,5-bis(hydroxymethyl)-3-hydroxypyridine
2-methyl-3-hydroxy-4,5-bis(hydroxy-methyl) pyridine
2-methyl-3-hydroxy-4,5-dihydroxymethylpyridine
2-methyl-4,5-dimethylol-pyridin-3-ol
2B3E07D2-E4CC-4CC5-B085-6070BA01F9F0
3,4-Pyridinedimethanol, 5-hydroxy-6-methyl-, hydrochloride
3-Hydroxy-2-Picoline-4,5-dimethanol
3-Hydroxy-4,5-dihydroxymethyl-2-methylpyridine hydrochloride
3-Hydroxy-4,5-dimethylol-.alpha.-picoline hydrochloride
3-Hydroxy-4,5-dimethylol-alpha-picoline
3-Hydroxy-4,5-dimethylol-alpha-picoline hydrochloride
3-hydroxy-4,5-bis(hydroxymethyl)-2-methylpyridine
4,5-Bis(hydroxymethyl)-2-methyl-3-pyridinol
4,5-Bis(hydroxymethyl)-2-methylpyridin-3-ol hydrochloride
4,5-bis(hydroxymethyl)-2-methyl-3-pyridinol hydrochloride
4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol
4,5-bis(hydroxymethyl)-2-methylpyridine-3-ol
4-Deoxypyridoxine 5'-phosphate
47862_SUPELCO
5-Hydroxy-6-methyl-3,4-pyridinedicarbinol hydrochloride
5-Hydroxy-6-methyl-3,4-pyridinedimethanol
5-Hydroxy-6-methyl-3,4-pyridinedimethanol hydrochloride
5-Hydroxy-6-methyl-3,4-pyridinedimethanol, hydrochloride
58-56-0
58-56-0 (HCL)
58-56-0 (hydrochloride)
65-23-6
65-23-6 (Parent)
8059-24-3
85078-23-5
AC-12024
AC-14512
AC-907/25014218
AC1L1AMH
AC1L1LMI
AC1L2XK2
AC1Q22HP
AC1Q2G66
AC1Q3F63
AI3-19016
AIDS-006784
AIDS006784
AR-1A6363
AR-1J1632
Adermin hydrochloride
Adermine
Adermine hydrochloride
Aderomine hydrochloride
Aderoxin
Aderoxine
Alestrol
BB_NC-0050
BIDD:PXR0180
BPBio1_000646
BSPBio_000586
Becilan
Beesix
Benadon
Bonasanit
C00314
C8H11NO3
CAS-58-56-0
CBDivE_015627
CCRIS 1903
CHEBI:16709
CHEBI:30961
CHEMBL1200756
CHEMBL1364
CID104817
CID1054
CID6019
CPD0-1221
Campoviton 6
Cernevit-12
D02179
D025101
D08454
DB00165
EINECS 200-386-2
EINECS 200-603-0
EINECS 232-503-8
Godabion
Gravidox
HMS1569N08
HMS2093L07
HSDB 1212
Hexa-Betalin
Hexa-Betalin (R)
Hexa-betalin (TN)
Hexabetalin
Hexabione hydrochloride
 
Hexavibex
Hexermin
Hexermine
Hexobion
Hydoxin
I02-1897
I02-2297
KST-1A8556
LS-134393
LS-187072
LS-2332
MLS001074329
MLS002153915
MolPort-002-137-856
MolPort-002-319-991
MolPort-005-933-330
NCGC00016261-01
NCGC00164317-01
NCGC00180946-01
NSC 36225
NSC36225
NSC36225 (HCL)
Nestrex
Oprea1_061614
P0561
P4722_SIAL
P5669_SIGMA
P6280_SIGMA
P8666_SIGMA
P9755_SIAL
PN
PN HCl
PYRIDOXINE HYDROCHLORIDE
PYRIDOXINE HYDROCHLORIDE, U.S.P.
Paxadon
Piridossina
Piridossina [DCIT]
Piridoxina
Piridoxina [INN-Spanish]
Prestwick0_000623
Prestwick1_000623
Prestwick2_000623
Prestwick3_000623
Prestwick_925
Pydox
Pyridipca
Pyridox
Pyridoxin
Pyridoxin hydrochloride
Pyridoxine
Pyridoxine (INN)
Pyridoxine HCl
Pyridoxine Hydrochloride (B6)
Pyridoxine [INN:BAN]
Pyridoxine chloride
Pyridoxine hydrochloride (JP15/USP)
Pyridoxine hydrochloride [USAN:JAN]
Pyridoxine hydrogen chloride
Pyridoxine monohydrochloride
Pyridoxine, hydrochloride
Pyridoxine-HCl Microencapsulated
Pyridoxinium chloride
Pyridoxinum
Pyridoxinum [INN-Latin]
Pyridoxinum hydrochloricum
Pyridoxinum hydrochloricum (Hungarian)
Pyridoxol
Pyridoxol hydrochloride
Pyridoxol, hydrochloride
Pyridoxolum
Rodex
Rodex (R)
Rodex TD
SMP2_000230
SMR000674613
SPBio_002805
STK177324
STOCK1N-08684
Spondylonal
Tex Six T.R.
TimTec1_000657
UNII-68Y4CF58BV
UNII-KV2JZ1BI6Z
Vitamin B 6
Vitamin B6
Vitamin B6-hydrochloride
Vitamin V6
Vitamin V6 (TN)
Vitamin-?B6
Vitamin-?B6 hydrochloride
Vitaped
WLN: T6NJ B1 CQ D1Q E1Q &GH
ZINC00049154
ZINC21983293
bmse000288
c1302
component of Alestrol
nchembio.93-comp1
pyridoxine
vitamin B6
3
PyridoxalNutraceutical17966-72-81050
Synonyms:
2-methyl-3-hydroxy-4-formyl-5-hydroxymethylpyridine
3-Hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde
3-hydroxy-5-(hydroxymethyl)-2-methyl-4-pyridinecarboxaldehyde
 
3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde
3-hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde
Piridoxal
Pyridoxal
Pyridoxaldehyde
4
ornithineNutraceutical6770-26-86262
Synonyms:
(+)-S-Ornithine
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-2,5-diaminovaleric acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
 
(S)-a,D-Diaminovaleric acid
(S)-alpha,delta-Diaminovaleric acid
(S)-ornithine
(S)-α,δ-diaminovaleric acid
5-Amino-L-Norvaline
L-(-)-Ornithine
L-Ornithine
5arginineNutraceutical393

Interventional clinical trials:

idNameStatusNCT IDPhase
1Molecular Genetics of Retinal DegenerationsCompletedNCT00231010
2Gyrate Atrophy of the Choroid and RetinaCompletedNCT00001166

Search NIH Clinical Center for Bietti Crystalline Corneoretinal Dystrophy

Genetic Tests for Bietti Crystalline Corneoretinal Dystrophy

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Genetic tests related to Bietti Crystalline Corneoretinal Dystrophy:

id Genetic test Affiliating Genes
1 Bietti Crystalline Corneoretinal Dystrophy25
2 Bietti Crystalline Dystrophy23 CYP4V2

Anatomical Context for Bietti Crystalline Corneoretinal Dystrophy

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MalaCards organs/tissues related to Bietti Crystalline Corneoretinal Dystrophy:

34
Retina, Eye, Skin

Animal Models for Bietti Crystalline Corneoretinal Dystrophy or affiliated genes

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Publications for Bietti Crystalline Corneoretinal Dystrophy

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Articles related to Bietti Crystalline Corneoretinal Dystrophy:

idTitleAuthorsYear
1
Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy. (26971461)
2016
2
Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients. (26085992)
2015
3
Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. (21565171)
2011
4
In vivo confocal microscopic findings of 2 patients with Bietti crystalline corneoretinal dystrophy. (20299976)
2010
5
Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene. (19508456)
2010
6
Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. (17249554)
2006
7
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. (15937078)
2005
8
Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. (16179904)
2005
9
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. (15042513)
2004
10
Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. (11001583)
2000

Variations for Bietti Crystalline Corneoretinal Dystrophy

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

68
id Symbol AA change Variation ID SNP ID
1CYP4V2p.Trp44ArgVAR_023084rs119103282
2CYP4V2p.Gly61SerVAR_023085rs119103285
3CYP4V2p.Glu79AspVAR_023086rs199476185
4CYP4V2p.Ile111ThrVAR_023087rs119103283
5CYP4V2p.Met123ValVAR_023088rs149684063
6CYP4V2p.His331ProVAR_023089rs199476197
7CYP4V2p.Ser341ProVAR_023090rs199476199
8CYP4V2p.Arg508HisVAR_023091rs119103284

Clinvar genetic disease variations for Bietti Crystalline Corneoretinal Dystrophy:

5 (show all 34)
id Gene Variation Type Significance SNP ID Assembly Location
1CYP4V2NM_207352.3(CYP4V2): c.1393A> G (p.Arg465Gly)single nucleotide variantPathogenicrs144109267GRCh37Chr 4, 187130414: 187130414
2CYP4V2NM_207352.3(CYP4V2): c.1396A> G (p.Asn466Asp)single nucleotide variantPathogenicrs797045181GRCh37Chr 4, 187130417: 187130417
3CYP4V2NM_207352.3(CYP4V2): c.130T> A (p.Trp44Arg)single nucleotide variantPathogenicrs119103282GRCh37Chr 4, 187113107: 187113107
4CYP4V2NM_207352.3(CYP4V2): c.332T> C (p.Ile111Thr)single nucleotide variantPathogenicrs119103283GRCh37Chr 4, 187117161: 187117161
5CYP4V2NM_207352.3(CYP4V2): c.1523G> A (p.Arg508His)single nucleotide variantPathogenicrs119103284GRCh37Chr 4, 187131740: 187131740
6CYP4V2NM_207352.3(CYP4V2): c.181G> A (p.Gly61Ser)single nucleotide variantPathogenicrs119103285GRCh37Chr 4, 187113158: 187113158
7CYP4V2NM_207352.3(CYP4V2): c.1091-2A> Gsingle nucleotide variantPathogenicrs199476183GRCh37Chr 4, 187130017: 187130017
8CYP4V2NM_207352.3(CYP4V2): c.1020G> A (p.Trp340Ter)single nucleotide variantPathogenicrs199476198GRCh37Chr 4, 187126386: 187126386
9CYP4V2NM_207352.3(CYP4V2): c.1021T> C (p.Ser341Pro)single nucleotide variantPathogenicrs199476199GRCh37Chr 4, 187126387: 187126387
10CYP4V2NM_207352.3(CYP4V2): c.1157A> C (p.Lys386Thr)single nucleotide variantPathogenicrs199476200GRCh37Chr 4, 187130085: 187130085
11CYP4V2NM_207352.3(CYP4V2): c.1169G> A (p.Arg390His)single nucleotide variantPathogenicrs199476201GRCh37Chr 4, 187130097: 187130097
12CYP4V2NM_207352.3(CYP4V2): c.1187C> T (p.Pro396Leu)single nucleotide variantPathogenicrs199476202GRCh37Chr 4, 187130115: 187130115
13CYP4V2NM_207352.3(CYP4V2): c.1198C> T (p.Arg400Cys)single nucleotide variantPathogenicrs138444697GRCh37Chr 4, 187130126: 187130126
14CYP4V2NM_207352.3(CYP4V2): c.1199G> A (p.Arg400His)single nucleotide variantPathogenicrs199476203GRCh37Chr 4, 187130127: 187130127
15CYP4V2NM_207352.3(CYP4V2): c.1226-6_1235delTGACAGCAGGTTACAGdeletionPathogenicrs199476184GRCh37Chr 4, 187130241: 187130256
16CYP4V2NM_207352.3(CYP4V2): c.1348C> T (p.Gln450Ter)single nucleotide variantPathogenicrs199476204GRCh37Chr 4, 187130369: 187130369
17CYP4V2NM_207352.3(CYP4V2): c.1445C> A (p.Ser482Ter)single nucleotide variantPathogenicrs146494374GRCh37Chr 4, 187131662: 187131662
18CYP4V2NM_207352.3(CYP4V2): c.1526C> T (p.Pro509Leu)single nucleotide variantPathogenicrs199476205GRCh37Chr 4, 187131743: 187131743
19CYP4V2NM_207352.3(CYP4V2): c.237G> T (p.Glu79Asp)single nucleotide variantPathogenicrs199476185GRCh37Chr 4, 187115676: 187115676
20CYP4V2NM_207352.3(CYP4V2): c.253C> T (p.Arg85Cys)single nucleotide variantPathogenicrs199476186GRCh37Chr 4, 187115692: 187115692
21CYP4V2NM_207352.3(CYP4V2): c.283G> A (p.Gly95Arg)single nucleotide variantPathogenicrs199476187GRCh37Chr 4, 187115722: 187115722
22CYP4V2NM_207352.3(CYP4V2): c.327+1G> Asingle nucleotide variantPathogenicrs199476182GRCh37Chr 4, 187115767: 187115767
23CYP4V2NM_207352.3(CYP4V2): c.335T> G (p.Leu112Ter)single nucleotide variantPathogenicrs199476188GRCh37Chr 4, 187117164: 187117164
24CYP4V2NM_207352.3(CYP4V2): c.367A> G (p.Met123Val)single nucleotide variantPathogenicrs149684063GRCh37Chr 4, 187117196: 187117196
25CYP4V2NM_207352.3(CYP4V2): c.400G> T (p.Gly134Ter)single nucleotide variantPathogenicrs199476189GRCh37Chr 4, 187117229: 187117229
26CYP4V2NM_207352.3(CYP4V2): c.518T> G (p.Leu173Trp)single nucleotide variantPathogenicrs199476190GRCh37Chr 4, 187118198: 187118198
27CYP4V2NM_207352.3(CYP4V2): c.655T> C (p.Tyr219His)single nucleotide variantPathogenicrs199476191GRCh37Chr 4, 187118737: 187118737
28CYP4V2NM_207352.3(CYP4V2): c.759dupA (p.His254Thrfs)duplicationPathogenicrs199476192GRCh37Chr 4, 187120195: 187120195
29CYP4V2NM_207352.3(CYP4V2): c.761A> G (p.His254Arg)single nucleotide variantPathogenicrs199476193GRCh37Chr 4, 187120197: 187120197
30CYP4V2NM_207352.3(CYP4V2): c.802-8_810del17insGCindelPathogenicrs207482233GRCh37Chr 4, 187122303: 187122319
31CYP4V2NM_207352.3(CYP4V2): c.958C> T (p.Arg320Ter)single nucleotide variantPathogenicrs199476194GRCh37Chr 4, 187122467: 187122467
32CYP4V2NM_207352.3(CYP4V2): c.971A> T (p.Asp324Val)single nucleotide variantPathogenicrs199476195GRCh37Chr 4, 187122480: 187122480
33CYP4V2NM_207352.3(CYP4V2): c.974C> T (p.Thr325Ile)single nucleotide variantPathogenicrs199476196GRCh37Chr 4, 187122483: 187122483
34CYP4V2NM_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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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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GO Terms for genes affiliated with Bietti Crystalline Corneoretinal Dystrophy

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Sources for Bietti Crystalline Corneoretinal Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet