MCID: STR042
MIFTS: 18

Stargardt Disease, Autosomal Recessive malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Stargardt Disease, Autosomal Recessive

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Sources:
23GeneTests, 48Novoseek, 66UMLS
See all MalaCards sources

Aliases & Descriptions for Stargardt Disease, Autosomal Recessive:

Name: Stargardt Disease, Autosomal Recessive 23
Stgd1 23 48
Macular Dystrophy with Flecks Type 1 23
 
Macular Degeneration, Juvenile 23
Fundus Flavimaculatus 23
Stargardt Disease 1 66

Classifications:



Summaries for Stargardt Disease, Autosomal Recessive

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MalaCards based summary: Stargardt Disease, Autosomal Recessive, also known as stgd1, is related to stargardt disease 1 and multifocal pattern dystrophy simulating fundus flavimaculatus. An important gene associated with Stargardt Disease, Autosomal Recessive is CNGB3 (Cyclic Nucleotide Gated Channel Beta 3).

Related Diseases for Stargardt Disease, Autosomal Recessive

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Graphical network of diseases related to Stargardt Disease, Autosomal Recessive:



Diseases related to stargardt disease, autosomal recessive

Symptoms for Stargardt Disease, Autosomal Recessive

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Drugs & Therapeutics for Stargardt Disease, Autosomal Recessive

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Drugs for Stargardt Disease, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Retinol acetatePhase 297127-47-910245972
Synonyms:
13-cis-Retinyl acetate
Acetateall-trans-Retinol
Acetic acid, retinyl ester
All-trans-Retinyl acetate
All-trans-retinol acetate
All-trans-retinyl acetate
All-trans-retinylacetate
All-trans-vitamin a acetate
Crystalets
Davitan A 650
Myvak (van)
Myvax (van)
O(15)-Acetylretinol
O~15~-Acetyl-retinol
O~15~-Acetylretinol
 
RETINOL ACETATE (SEE RETINOIDPROJECTS 1 AND 3)
Retinol acetate
Retinol acetate (JP15)
Retinol, acetate
Retinol, acetate, all-trans- (8CI)
Retinol, acetate, labeled with tritium
Retinyl acetate
Trans-retinyl acetate
Trans-vitamin a acetate
Vitamin A acetate
Vitamin A1 acetate
Vitamin a acetate (tritiated)
Vitamin a acetate (van)
Vitamin a alcohol acetate
Vitamin a ester
Vitamin a, acetate
2
Vitamin ANutraceuticalPhase 245011103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
3retinolNutraceuticalPhase 2450
4
acetic acidNutraceuticalPhase 210164-19-7176
Synonyms:
ACETATE ion
Acetate
Acetic acid, glacial
Acetic acid, ion(1-)
Azetat
CH3-COO(-)
Ethanoat
Ethanoate
Ethanoic acid
 
Ethylate
Ethylic acid
Glacial acetate
Glacial acetic acid
Kyselina octova
MeCO2 anion
Methanecarboxylate
Methanecarboxylic acid
Vinegar
Vinegar acid

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase 2 Tolerability and Effects of ALK-001 on Stargardt DiseaseRecruitingNCT02402660Phase 2
2Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular DystrophyCompletedNCT00060749Phase 1

Search NIH Clinical Center for Stargardt Disease, Autosomal Recessive

Genetic Tests for Stargardt Disease, Autosomal Recessive

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Genetic tests related to Stargardt Disease, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Stargardt Disease, Autosomal Recessive23 CNGB3

Anatomical Context for Stargardt Disease, Autosomal Recessive

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Animal Models for Stargardt Disease, Autosomal Recessive or affiliated genes

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Publications for Stargardt Disease, Autosomal Recessive

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Variations for Stargardt Disease, Autosomal Recessive

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Clinvar genetic disease variations for Stargardt Disease, Autosomal Recessive:

5 (show all 36)
id Gene Variation Type Significance SNP ID Assembly Location
1ABCA4NM_000350.2(ABCA4): c.880C> T (p.Gln294Ter)single nucleotide variantPathogenicrs794727903GRCh37Chr 1, 94546253: 94546253
2ABCA4NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala)single nucleotide variantPathogenicrs76157638GRCh37Chr 1, 94517254: 94517254
3ABCA4NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys)single nucleotide variantPathogenicrs61751399GRCh37Chr 1, 94506923: 94506923
4CNGB3NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs)deletionPathogenicrs397515360GRCh37Chr 8, 87656009: 87656009
5ABCA4NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala)single nucleotide variantPathogenicrs76157638GRCh37Chr 1, 94517254: 94517254
6ABCA4NM_000350.2(ABCA4): c.2791G> A (p.Val931Met)single nucleotide variantPathogenicrs58331765GRCh37Chr 1, 94512602: 94512602
7ABCA4NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe)single nucleotide variantPathogenicrs61751408GRCh37Chr 1, 94471065: 94471065
8ABCA4NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter)single nucleotide variantPathogenicrs61749438GRCh37Chr 1, 94520689: 94520689
9ABCA4NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys)single nucleotide variantPathogenicrs61750061GRCh37Chr 1, 94508976: 94508976
10ABCA4NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs)insertionPathogenicrs61750064GRCh37Chr 1, 94508434: 94508435
11ABCA4NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu)single nucleotide variantLikely pathogenic, Pathogenic, risk factorrs1800553GRCh37Chr 1, 94473807: 94473807
12ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenicrs61751374GRCh37Chr 1, 94508969: 94508969
13ABCA4NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp)single nucleotide variantPathogenicrs61748548GRCh37Chr 1, 94546115: 94546115
14ABCA4NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys)single nucleotide variantPathogenicrs61750200GRCh37Chr 1, 94564484: 94564484
15ABCA4NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp)single nucleotide variantPathogenicrs121909205GRCh37Chr 1, 94586550: 94586550
16ABCA4NM_000350.2(ABCA4): c.1715G> A (p.Arg572Gln)single nucleotide variantPathogenicrs61748559GRCh37Chr 1, 94528713: 94528713
17ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenicrs61751374GRCh37Chr 1, 94508969: 94508969
18ABCA4NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu)single nucleotide variantPathogenic, risk factorrs61750130GRCh37Chr 1, 94496666: 94496666
19ABCA4NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp)single nucleotide variantPathogenicrs121909206GRCh37Chr 1, 94481322: 94481322
20ABCA4NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro)single nucleotide variantPathogenicrs61753033GRCh37Chr 1, 94474323: 94474323
21ABCA4NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln)single nucleotide variantPathogenic, risk factorrs1801581GRCh37Chr 1, 94512565: 94512565
22ABCA4NM_000350.2(ABCA4): c.3322C> T (p.Arg1108Cys)single nucleotide variantPathogenicrs61750120GRCh37Chr 1, 94508323: 94508323
23ABCA4NM_000350.2(ABCA4): c.4540-2A> Gsingle nucleotide variantPathogenicrs61752435GRCh37Chr 1, 94490606: 94490606
24ABCA4NM_000350.2(ABCA4): c.5461-10T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs1800728GRCh37Chr 1, 94476951: 94476951
25ABCA4NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter)single nucleotide variantPathogenicrs61748550GRCh37Chr 1, 94544895: 94544895
26ABCA4NM_000350.2(ABCA4): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs150774447GRCh37Chr 1, 94577135: 94577135
27ABCA4NM_000350.2(ABCA4): c.1760+2T> Gsingle nucleotide variantPathogenicrs61751385GRCh37Chr 1, 94528666: 94528666
28ABCA4NM_000350.2(ABCA4): c.1938-1G> Asingle nucleotide variantPathogenicrs61751263GRCh37Chr 1, 94526316: 94526316
29ABCA4NM_000350.2(ABCA4): c.194G> A (p.Gly65Glu)single nucleotide variantPathogenicrs62654395GRCh37Chr 1, 94577102: 94577102
30ABCA4NM_000350.2(ABCA4): c.4195G> A (p.Glu1399Lys)single nucleotide variantPathogenicrs62642573GRCh37Chr 1, 94496610: 94496610
31ABCA4NM_000350.2(ABCA4): c.4469G> A (p.Cys1490Tyr)single nucleotide variantPathogenicrs61751402GRCh37Chr 1, 94495071: 94495071
32ABCA4NM_000350.2(ABCA4): c.4577C> T (p.Thr1526Met)single nucleotide variantLikely pathogenic, Pathogenicrs61750152GRCh37Chr 1, 94490567: 94490567
33ABCA4NM_000350.2(ABCA4): c.4594G> A (p.Asp1532Asn)single nucleotide variantPathogenicrs62642574GRCh37Chr 1, 94490550: 94490550
34ABCA4NM_000350.2(ABCA4): c.5714+5G> Asingle nucleotide variantPathogenicrs61751407GRCh37Chr 1, 94476351: 94476351
35ABCA4NM_000350.2(ABCA4): c.6089G> A (p.Arg2030Gln)single nucleotide variantPathogenicrs61750641GRCh37Chr 1, 94471055: 94471055
36ABCA4NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter)single nucleotide variantPathogenicrs61750654GRCh37Chr 1, 94466426: 94466426

Expression for genes affiliated with Stargardt Disease, Autosomal Recessive

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Search GEO for disease gene expression data for Stargardt Disease, Autosomal Recessive.

Pathways for genes affiliated with Stargardt Disease, Autosomal Recessive

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GO Terms for genes affiliated with Stargardt Disease, Autosomal Recessive

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Cellular components related to Stargardt Disease, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00017509.6ABCA4, CNGB3
2integral component of plasma membraneGO:00058879.1ABCA4, CNGB3

Biological processes related to Stargardt Disease, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transportGO:00068109.1ABCA4, CNGB3
2visual perceptionGO:00076019.1ABCA4, CNGB3

Sources for Stargardt Disease, Autosomal Recessive

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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