MCID: STR042
MIFTS: 14

Stargardt Disease, Autosomal Recessive malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Stargardt Disease, Autosomal Recessive

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Sources:
65UMLS, 22GeneTests, 47Novoseek
See all MalaCards sources

Aliases & Descriptions for Stargardt Disease, Autosomal Recessive:

Name: Stargardt Disease, Autosomal Recessive 22
Stgd1 22 47
Macular Dystrophy with Flecks Type 1 22
 
Macular Degeneration, Juvenile 22
Fundus Flavimaculatus 22
Stargardt Disease 1 65

Classifications:



External Ids:

UMLS65 C1855465

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 leukemia. An important gene associated with Stargardt Disease, Autosomal Recessive is CNGB3 (Cyclic Nucleotide Gated Channel Beta 3). Affiliated tissues include eye, and related mouse phenotype vision/eye.

Related Diseases for Stargardt Disease, Autosomal Recessive

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Graphical network of the top 20 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):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
acetic acidapproved, NutraceuticalPhase 28964-19-7176
Synonyms:
ACETATE ion
Acetate
Acetic Acid
Acetic acid, ion(1-)
Azetat
Borofair
CH3-COO(-)
Ethanoat
Ethanoate
Ethanoic acid
 
Ethylate
Ethylic acid
Glacial acetate
Glacial acetic acid
Kyselina octova
MeCO2 anion
Methanecarboxylate
Methanecarboxylic acid
Vinegar
Vinegar acid
Vosol
2
Vitamin Aapproved, nutraceuticalPhase 241311103-57-4, 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
(2e,4e,6e,8e)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-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
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
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 A palmitate
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin a
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
3VitaminsPhase 23857
4Retinol palmitatePhase 2413
5
Retinol acetatePhase 285127-47-910245972
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
6retinolNutraceuticalPhase 2413
7Omega 3 Fatty AcidNutraceuticalPhase 1912

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 Recessive22 CNGB3

Anatomical Context for Stargardt Disease, Autosomal Recessive

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MalaCards organs/tissues related to Stargardt Disease, Autosomal Recessive:

33
Eye

Animal Models for Stargardt Disease, Autosomal Recessive or affiliated genes

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MGI Mouse Phenotypes related to Stargardt Disease, Autosomal Recessive:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1ABCA4, CNGB3

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.6148G> C (p.Val2050Leu)single nucleotide variantPathogenicrs41292677GRCh37Chr 1, 94467548: 94467548
10ABCA4NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys)single nucleotide variantPathogenicrs61750061GRCh37Chr 1, 94508976: 94508976
11ABCA4NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs)insertionPathogenicrs61750064GRCh37Chr 1, 94508434: 94508435
12ABCA4NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu)single nucleotide variantPathogenic, risk factorrs1800553GRCh37Chr 1, 94473807: 94473807
13ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenicrs61751374GRCh37Chr 1, 94508969: 94508969
14ABCA4ABCA4, IVS13AS, G-A, -1single nucleotide variantPathogenic
15ABCA4NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp)single nucleotide variantPathogenicrs61748548GRCh37Chr 1, 94546115: 94546115
16ABCA4NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys)single nucleotide variantPathogenicrs61750200GRCh37Chr 1, 94564484: 94564484
17ABCA4NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp)single nucleotide variantPathogenicrs121909205GRCh37Chr 1, 94586550: 94586550
18ABCA4NM_000350.2(ABCA4): c.1715G> A (p.Arg572Gln)single nucleotide variantPathogenicrs61748559GRCh37Chr 1, 94528713: 94528713
19ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)single nucleotide variantPathogenicrs61751374GRCh37Chr 1, 94508969: 94508969
20ABCA4NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu)single nucleotide variantPathogenic, risk factorrs61750130GRCh37Chr 1, 94496666: 94496666
21ABCA4NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp)single nucleotide variantPathogenicrs121909206GRCh37Chr 1, 94481322: 94481322
22ABCA4NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro)single nucleotide variantPathogenicrs61753033GRCh37Chr 1, 94474323: 94474323
23ABCA4NM_000350.2(ABCA4): c.2828G> A (p.Arg943Gln)single nucleotide variantPathogenic, risk factorrs1801581GRCh37Chr 1, 94512565: 94512565
24ABCA4NM_000350.2(ABCA4): c.3322C> T (p.Arg1108Cys)single nucleotide variantPathogenicrs61750120GRCh37Chr 1, 94508323: 94508323
25ABCA4NM_000350.2(ABCA4): c.4540-2A> Gsingle nucleotide variantPathogenicrs61752435GRCh37Chr 1, 94490606: 94490606
26ABCA4NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter)single nucleotide variantPathogenicrs61748550GRCh37Chr 1, 94544895: 94544895
27ABCA4NM_000350.2(ABCA4): c.161G> T (p.Cys54Phe)single nucleotide variantPathogenicrs150774447GRCh37Chr 1, 94577135: 94577135
28ABCA4NM_000350.2(ABCA4): c.1760+2T> Gsingle nucleotide variantPathogenicrs61751385GRCh37Chr 1, 94528666: 94528666
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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Sources for Stargardt Disease, Autosomal Recessive

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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