MCID: BTT001
MIFTS: 34

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 49 10 11 21 45 22 23 12 51 67 24 65
Bietti Crystalline Dystrophy 21 22 23 51 67
Bietti Crystalline Retinopathy 21 22 23 51
Bcd 45 23 51 67
 
Bietti Tapetoretinal Degeneration with Marginal Corneal Dystrophy 45 23 67
Bietti's Crystalline Dystrophy 10
Crystalline Retinopathy 67

Characteristics:

Orphanet epidemiological data:

51
bietti crystalline corneoretinal dystrophy:
Inheritance: Autosomal recessive

HPO:

61
bietti crystalline corneoretinal dystrophy:
Inheritance: autosomal recessive inheritance


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

OMIM49 210370
Disease Ontology10 DOID:0050664
Orphanet51 41751
ICD10 via Orphanet28 H15.5
MESH via Orphanet37 C535440
MedGen34 C1859486
UMLS65 C1859486

Summaries for Bietti Crystalline Corneoretinal Dystrophy

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OMIM:49 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 ectropion inferior cleft lip and or palate and blepharo-cheilo-odontic syndrome, and has symptoms including severe myopia, marginal corneal dystrophy and progressive night blindness. 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.

NIH Rare Diseases:45 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:67 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.

Genetics Home Reference:23 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.

GeneReviews summary for NBK91457

Related Diseases for Bietti Crystalline Corneoretinal Dystrophy

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Graphical network of the top 20 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 marginal corneal dystrophy HP:0007880
3 progressive night blindness HP:0007675
4 abnormality of blood and blood-forming tissues HP:0001871
5 constriction of peripheral visual field HP:0001133
6 retinal degeneration HP:0000546
7 chorioretinal atrophy HP:0000533
8 progressive visual loss HP:0000529

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):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pyridoxineapproved, nutraceutical16565-23-61054
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
Pyridoxine Hydrochloride (B6)
Pyridoxine [INN:BAN]
Pyridoxine chloride
Pyridoxine hydrochloride
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
2
Pyridoxalapproved, nutraceutical16365-22-5, 66-72-81050
Synonyms:
3-HYDROXY-5-(hydroxymethyl)-2-methylisonicotinaldehyde
 
3-Hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carboxaldehyde
Pyridoxal
Pyridoxaldehyde
3
Ornithineapproved, nutraceutical6370-26-86262
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
4Vitamin B 6165
5
Pyridoxal Phosphatenutraceutical1454-47-71051
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
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 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
6arginineNutraceutical364

Interventional clinical trials:

idNameStatusNCT IDPhase
1Gyrate Atrophy of the Choroid and RetinaCompletedNCT00001166
2Molecular Genetics of Retinal DegenerationsRecruitingNCT00231010

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 Dystrophy22 CYP4V2

Anatomical Context for Bietti Crystalline Corneoretinal Dystrophy

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MalaCards organs/tissues related to Bietti Crystalline Corneoretinal Dystrophy:

33
Retina, Eye, Skin, Smooth muscle, Heart, Lung

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
Clear cell adenocarcinoma of the abdominal wall: a case report. (24937978)
2014
2
Studies on the impact of biosynthesized silver nanoparticles (AgNPs) in relation to malaria and filariasis vector control against Anopheles stephensi Liston and Culex quinquefasciatus Say (Diptera: Culicidae). (23064800)
2013
3
Comparison between ivabradine and low-dose digoxin in the therapy of diastolic heart failure with preserved left ventricular systolic function. (24765517)
2013
4
Early start: a cost-beneficial perinatal substance abuse program. (22183217)
2012
5
Investigating the relationship between serum thrombopoietin kinetics and the platelet-sparing effect: A clinical pharmacological evaluation of combined paclitaxel and carboplatin in patients with non-small cell lung cancer. (15138560)
2004
6
Paroxysmal nocturnal hemoglobinuria with onset in childhood: a case report. (16295481)
2004
7
Ryanodine receptors in human bladder smooth muscle. (10081705)
1999
8
Spontaneous posterior fossa cerebrospinal fluid leak. (8441549)
1993
9
Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome. (8372078)
1993

Variations for Bietti Crystalline Corneoretinal Dystrophy

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

67
id Symbol AA change Variation ID SNP ID
1CYP4V2p.Trp44ArgVAR_023084
2CYP4V2p.Gly61SerVAR_023085
3CYP4V2p.Glu79AspVAR_023086
4CYP4V2p.Ile111ThrVAR_023087
5CYP4V2p.Met123ValVAR_023088rs149684063
6CYP4V2p.His331ProVAR_023089
7CYP4V2p.Ser341ProVAR_023090
8CYP4V2p.Arg508HisVAR_023091

Clinvar genetic disease variations for Bietti Crystalline Corneoretinal Dystrophy:

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet