Stargardt Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: STR022 MIFTS: 58	Stargardt Disease Categories: Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Stargardt Disease

MalaCards integrated aliases for Stargardt Disease:

Name: Stargardt Disease ⁴² ³⁹ ¹² ⁷⁷ ⁵⁴ ⁶⁰ ³⁸ ³⁰ ⁶ ¹⁵ ⁴¹

Stargardt Disease 1 ¹² ⁷⁴

Juvenile Onset Macular Degeneration ⁵⁴

Stargardt Macular Dystrophy ⁵⁴

Stargardt Disease, Type 1 ⁴¹

Fundus Flavimaculatus ⁶⁰

Stargardt Disease-1 ⁴²

Stargardt 1 ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

stargardt disease
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

Orphanet: ⁶⁰

Rare eye diseases

External Ids:

Disease Ontology ¹² DOID:0050817

KEGG ³⁸ H00819

ICD10 via Orphanet ³⁵ H35.5

UMLS via Orphanet ⁷⁵ C0271093 C1855465

Orphanet ⁶⁰ ORPHA827

SNOMED-CT via HPO ⁷⁰ 102968003 13164000 23289000 more

UMLS ⁷⁴ C1855465

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Summaries for Stargardt Disease

NIH Rare Diseases : ⁵⁴ Stargardt disease is a genetic eye disorder that causes progressive vision loss. It affects the macula, an area of the retina responsible for sharp, central vision. Vision loss is due to abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells within the macula. People with Stargardt disease also have problems with night vision, and some have problems with color vision. The signs and symptoms of Stargardt disease typically appear in late childhood to early adulthood and worsen over time. It is most commonly caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner. Rarely it may be caused by mutations in other genes and inherited in an autosomal dominant manner. There is currently no treatment, but various services and devices can help affected people carry out daily activities and maintain their independence.

MalaCards based summary : Stargardt Disease, also known as stargardt disease 1, is related to stargardt disease 1 and stargardt macular degeneration. An important gene associated with Stargardt Disease is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are ABC transporters and Fatty acid elongation. The drugs acetic acid and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are reduced visual acuity and abnormality of visual evoked potentials

Disease Ontology : ¹² An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.

Wikipedia : ⁷⁷ Stargardt disease is the most common inherited single gene retinal disease. It usually has an autosomal... more...

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Related Diseases for Stargardt Disease

Diseases in the Stargardt Disease family:

Stargardt Disease 1	Stargardt Disease 3
Stargardt Disease 4

Diseases related to Stargardt Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)

#	Related Disease	Score	Top Affiliating Genes
1	stargardt disease 1	34.0	ABCA4 CNGB3 ELOVL4 GNAT2 MFSD8 RHO
2	stargardt macular degeneration	32.3	ABCA4 ELOVL4 PRPH2 RHO
3	bestrophinopathy	32.0	PRPH2 RPE65
4	retinitis	31.0	EYS PRPH2 RHO RPGR
5	macular degeneration, age-related, 1	30.5	ABCA4 CRB1 ELOVL4 PRPH2 RDH8 RHO
6	scotoma	30.3	ABCA4 EYS
7	cone-rod dystrophy 2	30.2	ABCA4 GNAT2 PROM1 PRPH2 RHO RPE65
8	congenital stationary night blindness	30.1	ABCA4 CNGB3 RHO RPE65
9	retinal degeneration	30.0	ABCA4 CRB1 MYO7A PRPH2 RHO RPE65
10	retinal disease	29.0	ABCA4 CNGB3 CRB1 ELOVL4 MYO7A PRPH2
11	retinitis pigmentosa	28.8	ABCA4 CRB1 ELOVL4 EYS LRAT MFSD8
12	leber congenital amaurosis	28.0	ABCA4 CNGB3 CRB1 ELOVL4 LRAT MYO7A
13	stargardt disease 4	12.6
14	stargardt disease 3	12.5
15	multifocal pattern dystrophy simulating fundus flavimaculatus	11.1
16	oguchi disease	11.1
17	leber congenital amaurosis 4	10.5
18	oligocone trichromacy	10.4	CNGB3 GNAT2
19	achromatopsia 4	10.4	CNGB3 GNAT2
20	jalili syndrome	10.4	CNGB3 GNAT2
21	cone-rod dystrophy 8	10.4	ABCA4 CNGB3 GNAT2
22	cone-rod dystrophy 7	10.4	ABCA4 ELOVL4
23	cone-rod dystrophy 9	10.3	ABCA4 CNGB3 GNAT2
24	retinitis pigmentosa 25	10.3	ELOVL4 EYS
25	cone-rod dystrophy 6	10.3	CNGB3 GNAT2 RPGR
26	retinoschisis 1, x-linked, juvenile	10.3	CNGB3 CRB1 RPE65
27	peripheral retinal degeneration	10.3	PRPH2 RPGR
28	retinitis pigmentosa 44	10.3	CNGB3 RDH12 RPGR
29	prolonged electroretinal response suppression	10.3	ABCA4 CRB1 PROM1 PRPH2
30	pathologic nystagmus	10.3	CNGB3 GNAT2 RHO
31	cone dystrophy	10.2	CNGB3 RHO RPGR
32	leber congenital amaurosis 9	10.2	CRB1 RDH12 RPE65
33	degos 'en cocarde' erythrokeratoderma	10.2
34	retinitis pigmentosa 19	10.2	ABCA4 RHO
35	severe early-childhood-onset retinal dystrophy	10.2	ABCA4 LRAT RPE65
36	fundus albipunctatus	10.2	PRPH2 RHO RPE65
37	achromatopsia 3	10.2	CNGB3 CRB1 GNAT2 RPE65
38	red-green color blindness	10.2	ABCA4 CNGB3 RHO RPE65
39	colorblindness, partial, protan series	10.2	CNGB3 RHO
40	retinitis pigmentosa-deafness syndrome	10.2	MYO7A USH2A
41	degeneration of macula and posterior pole	10.2	ABCA4 ELOVL4 RHO RPE65
42	achromatopsia	10.2	CNGB3 GNAT2 RPE65 RPGR
43	choroid disease	10.2	CNGB3 RHO RPE65 RPGR
44	vitreoretinopathy, neovascular inflammatory	10.1
45	lymphoma	10.1
46	myopia	10.1
47	refractive error	10.1
48	usher syndrome, type iic	10.1	CRB1 MYO7A USH2A
49	usher syndrome, type i	10.1	MYO7A RHO USH2A
50	autosomal genetic disease	10.1	ABCA4 MYO7A USH2A

Graphical network of the top 20 diseases related to Stargardt Disease:

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Symptoms & Phenotypes for Stargardt Disease

Human phenotypes related to Stargardt Disease:

⁶⁰ ³³ (show all 18)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	reduced visual acuity ⁶⁰ ³³	obligate (100%)	Obligate (100%)	HP:0007663
2	abnormality of visual evoked potentials ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000649
3	nyctalopia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000662
4	abnormality of color vision ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000551
5	central scotoma ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000603
6	macular degeneration ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000608
7	paroxysmal involuntary eye movements ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0007704
8	retinal pigment epithelial mottling ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0007814
9	abnormality of macular pigmentation ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008002
10	retinal thinning ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0030329
11	abnormal choroid morphology ³³	hallmark (90%)		HP:0000610
12	retinal pigment epithelial atrophy ³³	hallmark (90%)		HP:0007722
13	abnormal foveal morphology ³³	hallmark (90%)		HP:0000493
14	aplasia/hypoplasia of the macula ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0008059
15	yellow/white lesions of the macula ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0030500
16	abnormality of the fovea ⁶⁰		Very frequent (99-80%)
17	abnormality of the choroid ⁶⁰		Very frequent (99-80%)
18	loss of retinal pigment epithelium ⁶⁰		Very frequent (99-80%)

GenomeRNAi Phenotypes related to Stargardt Disease according to GeneCards Suite gene sharing:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	9.92	ABCA4 CNGB3 CRB1 DR1 ELOVL4 EYS

MGI Mouse Phenotypes related to Stargardt Disease:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.09	ABCA4 CNGB3 CRB1 ELOVL4 FAM53B GNAT2
2	pigmentation	MP:0001186	9.73	ABCA4 CRB1 ELOVL4 MFSD8 MYO7A PROM1
3	vision/eye	MP:0005391	9.53	ABCA4 CNGB3 CRB1 ELOVL4 GNAT2 LRAT

Sources

Drugs & Therapeutics for Stargardt Disease

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

(show all 21)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

acetic acid

Approved

Phase 2,Phase 1

64-19-7

176

Synonyms:

Acetate

Acetic acid glacial

Acetic acid, glacial

Aceticum acidum

Acid glacial, acetic

Acid, acetic

Acid, glacial acetic

Acide acetique

acide acétique

ácido acético

AcOH

CH3CO2H

CH3-COOH

e 260

e260

e-260

Essigsaeure

Essigsäure

Ethanoat

Ethanoate

Ethanoic acid

Ethoate

Ethoic acid

Ethylate

Ethylic acid

Glacial acetate

Glacial acetic acid

Glacial, acetic acid

HOAc

INS no. 260

Kyselina octova

MeCO2h

MeCOOH

Methanecarboxylate

Methanecarboxylic acid

Vinegar

Vinegar acid

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 2,Phase 1

22737-96-8, 68-26-8, 11103-57-4

9904001 445354

Synonyms:

(11-cis,13-cis)-Retinol acetate

(13cis)-Retinol

(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

(2Z,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

[11,12-3H]-Retinol

11,13-Di-cis-vitamin a acetate

11103-57-4

11-cis-13-cis-Retinol acetate

11-cis-13-cis-Retinyl acetate

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-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, (all-E)-Isomer

3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol

4-06-00-04133 (Beilstein Handbook Reference)

53637-36-8

5979-23-7

68-26-8

95144_FLUKA

95144_SIGMA

95146_FLUKA

95146_SIGMA

AC-11701

AC1L9HU3

AC1Q7BU9

ACON

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

alin

All Trans Retinol

All-trans retinol

ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)

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-Retinol

all-trans-retinyl alcohol

all-trans-Retinyl alcohol

all-trans-Vitamin A

all-trans-vitamin A alcohol

all-trans-Vitamin A alcohol

all-trans-Vitamin A1

Alphalin

Alphasterol

A-Mulsal

Anatola

Anatola A

Anti-infective vitamin

Antixerophthalmic vitamin

Antixerophthalmisches Vitamin

Aoral

Apexol

Apostavit

Aquasol A Parenteral

Aquasynth

AR-1L3057

A-Sol

Atars

ATAV

Avibon

A-Vi-Pel

Avita

A-Vitan

Avitol

Axerol

Axerophthol

Axerophtholum

Bentavit A

beta-Retinol

BIDD:PXR0102

Biosterol

BRN 0403040

C00473

C17276

C20H30O

CCRIS 5444

CHEBI:17336

CHEMBL986

Chocola A

CID445354

Cylasphere

D014801

D06543

DB00162

Del-VI-A

Disatabs Tabs

Dofsol

Dohyfral A

EINECS 200-683-7

EINECS 234-328-2

Epiteliol

Hi-A-Vita

HMS1921B04

HMS2092L13

HMS501I08

Homagenets Aoral

Homagenets aorl

HSDB 815

Hydrovit A

IDI1_000486

Lard Factor

LMPR01090001

LPK

LS-1578

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

Nio-A-Let

NSC 122759

NSC122759

Oleovitamin A

Ophthalamin

Plivit A

Prepalin

R7632_SIGMA

Retin-11,12-t2-ol (9CI)

retinol

Retinol

RETINOL

Retinol [INN:BAN]

Retinol solution

Retinol-(cellular-retinol-binding-protein)

Retinol, all-trans- (8CI)

Retinolo

Retinolo [DCIT]

Retinolum

Retinolum [INN-Latin]

Retrovitamin A

Ro-a-vit

Rovimix A 500

SDCCGMLS-0066724.P001

Sehkraft A

SMP2_000102

SMR000112036

Solu-A

SPECTRUM1501203

Spectrum5_000993

Spectrum5_001997

ST057232

Super A

Testavol

Testavol S

Thalasphere

trans-retinol

trans-Retinol acid (Vitamin A)

trans-Vitamin A alcohol

tROL

UNII-81G40H8B0T

UNII-G2SH0XKK91

Vaflol

Vafol

Veroftal

Vi-.alpha.

Vi-a

Vi-Alpha

Vi-Dom-A

Vio-A

Vitamin A

Vitamin- A

Vitamin A (Feed)

Vitamin A (USP)

Vitamin A alcohol

Vitamin- A alcohol

Vitamin A alcohol (VAN)

Vitamin- A alcohol solution

Vitamin A cryst

Vitamin A1

Vitamin- A1

Vitamin A1 alcohol

Vitamin A1 alcohol, all trans

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

Wachstumsvitamin

WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1

ZINC03831417

Zinosan N

Retinol acetate

Phase 2,Phase 1

127-47-9

10245972

Synonyms:

13-cis-Retinyl acetate

Acetateall-trans-retinol

Acetic acid, retinyl ester

all-trans-Retinol acetate

all-trans-Retinyl acetate

all-trans-Retinylacetate

all-trans-Vitamin a acetate

Crystalets

Dagravit a forte

Davitan a 650

Dif vitamin a masivo

Myvak

Myvax

O(15)-Acetylretinol

O~15~-acetylretinol

O~15~-acetyl-retinol

RetiNit

Retinol acetate (JP15)

RETINOL acetATE (see retinoidprojects 1 and 3)

Retinol acetate, (9,13-cis)-isomer

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 a acetate (tritiated)

Vitamin a alcohol acetate

Vitamin a dispersa

Vitamin a ester

Vitamin a, acetate

Vitamin a1 acetate

Vitamin-a-saar

Retinol palmitate

Phase 2,Phase 1

retinol

Phase 2,Phase 1

Vitamins

Phase 2,Phase 1

Pharmaceutical Solutions

Phase 1, Phase 2,Phase 2

Complement C5

Phase 2

Complement System Proteins

Phase 2

Immunologic Factors

Phase 2

Fomepizole

Approved, Vet_approved

Phase 1

7554-65-6

3406

Synonyms:

222569_ALDRICH

4-Methyl-1H-pyrazole

4-methylpyrazol

4-Methylpyrazol

4-methylpyrazole

4-Methylpyrazole

4-methylpyrazole monohydrochloride

4-Methylpyrazole monohydrochloride

5-23-05-00031 (Beilstein Handbook Reference)

7554-65-6

AC1L1FV5

AC1Q2OK9

AC1Q2OKA

AC-4833

AKOS000265586

Antizol

Antizol (TN)

BRN 0105204

C010238

C07837

C4H6N2

CHEBI:5141

CHEMBL1308

CID3406

CPD0-1652

D00707

DB01213

EINECS 231-445-0

Fomepizol

Fomepizol [INN-Spanish]

fomepizole

Fomepizole

Fomepizole (USAN/INN)

Fomepizole [USAN:INN]

Fomepizolum

Fomepizolum [INN-Latin]

I11-0350

Lopac0_000723

Lopac-M-1387

LS-128524

M0774

MLS001335923

MLS002153469

NCGC00015646-01

NCGC00015646-03

NCGC00162231-01

Orphan brand of fomepizole

Paladin brand of fomepizole

S14-0570

SBB004402

SMR000059088

SMR000326764

STK256626

TL8005172

UNII-83LCM6L2BY

ZINC00897288

Protective Agents

Phase 1

Antidotes

Phase 1

Omega 3 Fatty Acid

Phase 1,Not Applicable

Hydroxychloroquine

Approved

118-42-3

3652

Synonyms:

(+-)-Hydroxychloroquine

(±)-hydroxychloroquine

118-42-3

2-((4-((7-chloro-4-quinolyl)amino)pentyl)ethylamino)ethanol

2-((4-((7-chloro-4-Quinolyl)amino)pentyl)ethylamino)ethanol

2-((4-((7-Chloro-4-quinolyl)amino)pentyl)ethylamino)ethanol

2-(N-(4-(7-chlor-4-chinolylamino)-4-methylbutyl)ethylamino)ethanol

2-(N-(4-(7-Chlor-4-chinolylamino)-4-methylbutyl)ethylamino)ethanol

2-[{4-[(7-chloroquinolin-4-yl)amino]pentyl}(ethyl)amino]ethanol

2-[4-[(7-chloroquinolin-4-yl)amino]pentyl-ethylamino]ethanol

5-22-10-00280 (Beilstein Handbook Reference)

747-36-4 (sulfate (1:1) salt)

7-chloro-4-(4-(ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline

7-chloro-4-(4-(Ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline

7-Chloro-4-(4-(ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline

7-chloro-4-(4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline

7-Chloro-4-(4-(N-ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline

7-chloro-4-(4-(N-Ethyl-N-b-hydroxyethylamino)-1-methylbutylamino)quinoline

7-chloro-4-(4-(N-ethyl-N-β-hydroxyethylamino)-1-methylbutylamino)quinoline

7-chloro-4-(4-(N-Ethyl-N-β-hydroxyethylamino)-1-methylbutylamino)quinoline

7-Chloro-4-(5-(N-ethyl-N-2-hydroxyethylamino)-2-pentyl)aminoquinoline

7-chloro-4-[4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino]quinoline

7-chloro-4-[4-(N-Ethyl-N-b-hydroxyethylamino)-1-methylbutylamino]quinoline

7-chloro-4-[4-(N-ethyl-N-β-hydroxyethylamino)-1-methylbutylamino]quinoline

7-chloro-4-[4-(N-Ethyl-N-β-hydroxyethylamino)-1-methylbutylamino]quinoline

7-chloro-4-[5-(N-ethyl-N-2-hydroxyethylamino)-2-pentyl]aminoquinoline

7-chloro-4-[5-(N-Ethyl-N-2-hydroxyethylamino)-2-pentyl]aminoquinoline

AC1L1GEW

BRN 0253894

C07043

C18H26ClN3O

CHEMBL1535

CID3652

D08050

DB01611

DivK1c_000942

EINECS 204-249-8

Gen-Hydroxychloroquine 200mg Tablets

HCQ

Hidroxicloroquina

Hidroxicloroquina [INN-Spanish]

HMS502P04

Hydroxychlorochin

Hydroxychloroguine

hydroxychloroquine

Hydroxychloroquine

Hydroxychloroquine (INN)

Hydroxychloroquine [INN:BAN]

Hydroxychloroquine sulfate

Hydroxychloroquine sulfate (1:1) salt

Hydroxychloroquine Sulfate (1:1) Salt

Hydroxychloroquinum

Hydroxychloroquinum [INN-Latin]

IDI1_000942

Idrossiclorochina

Idrossiclorochina [DCIT]

KBio1_000942

LS-66614

MolPort-003-847-792

NCGC00159483-02

NINDS_000942

NSC4375

Oxichlorochine

Oxichlorochinum

Oxichloroquine

Oxychlorochin

Oxychloroquine

PlaqueN/A

Plaquenil

Polirreumin

Polirreumin (TN)

Quensyl

SPBio_001116

Spectrum2_001238

Spectrum5_001697

ST072188

UNII-4QWG6N8QKH

WIN 1258

Sunflower

Not Applicable

Antiparasitic Agents

Antiprotozoal Agents

Antirheumatic Agents

Anti-Infective Agents

Antimalarials

Interventional clinical trials:

(show all 33)

#	Name	Status	NCT ID	Phase	Drugs
1	Safety and Efficacy of Emixustat in Stargardt Disease	Recruiting	NCT03772665	Phase 3	Emixustat;Placebo
2	Pharmacodynamic Study of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease	Completed	NCT03033108	Phase 2	Emixustat
3	Sub-retinal Transplantation of hESC Derived RPE(MA09-hRPE)Cells in Patients With Stargardt's Macular Dystrophy	Completed	NCT01345006	Phase 1, Phase 2
4	Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD)	Completed	NCT01469832	Phase 1, Phase 2
5	Phase I/II Study of SAR422459 in Patients With Stargardt's Macular Degeneration	Recruiting	NCT01367444	Phase 1, Phase 2	SAR422459
6	Phase 2 Tolerability and Effects of ALK-001 on Stargardt Disease	Recruiting	NCT02402660	Phase 2	ALK-001;Placebo
7	Phase I/II Follow-up Study of SAR422459 in Patients With Stargardt's Macular Degeneration	Recruiting	NCT01736592	Phase 1, Phase 2	SAR422459 administered in previous study TDU13583
8	Stem Cell Therapy for Outer Retinal Degenerations	Recruiting	NCT02903576	Phase 1, Phase 2
9	Zimura Compared to Sham in Patients With Autosomal Recessive Stargardt Disease (STGD1)	Active, not recruiting	NCT03364153	Phase 2	Zimura
10	Saffron Supplementation in Stargardt's Disease	Active, not recruiting	NCT01278277	Phase 1, Phase 2
11	Clinical Study of Subretinal Transplantation of Human Embryo Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Macular Degeneration Diseases	Active, not recruiting	NCT02749734	Phase 1, Phase 2
12	Safety and Tolerability of MA09-hRPE Cells in Patients With Stargardt's Macular Dystrophy(SMD)	Unknown status	NCT01625559	Phase 1
13	Phase 1 Pilot Study of 4-MP to Treat Stargardt Macular Dystrophy	Completed	NCT00346853	Phase 1	4-Methylpyrazole
14	Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular Dystrophy	Completed	NCT00060749	Phase 1	Docosahexaenoic Acid (DHA) Dietary Supplement
15	Phase 1 Safety Study of ALK-001 in Healthy Volunteers	Completed	NCT02230228	Phase 1	ALK-001 (No generic name)
16	Stem Cells Therapy in Degenerative Diseases of the Retina	Enrolling by invitation	NCT03772938	Phase 1
17	A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies	Completed	NCT01977846
18	The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4: PROM1-Related Macular Dystrophy	Completed	NCT02410122
19	DHA Supplementation in Patients With STGD3	Completed	NCT00420602	Not Applicable
20	Microcurrent Stimulation to Treat Macular Degeneration	Completed	NCT01790958
21	Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic Retinopathy	Recruiting	NCT02875704
22	Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease	Recruiting	NCT03297515	Not Applicable
23	Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene	Recruiting	NCT01145196
24	Rod and Cone Mediated Function in Retinal Disease	Recruiting	NCT02617966
25	Natural History of Eye Diseases Related to ABCA4 Mutations	Recruiting	NCT01736293
26	Stem Cell Ophthalmology Treatment Study II	Recruiting	NCT03011541	Not Applicable
27	Inherited Retinal Degenerative Disease Registry	Recruiting	NCT02435940
28	Long Term Follow Up of Sub-retinal Transplantation of hESC Derived RPE Cells in Stargardt Macular Dystrophy Patients	Active, not recruiting	NCT02445612
29	A Follow up Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD)	Active, not recruiting	NCT02941991
30	Stem Cell Ophthalmology Treatment Study	Enrolling by invitation	NCT01920867	Not Applicable
31	Objective Assessment of Macular Function at Retinal and Cortical Levels	Not yet recruiting	NCT03517241
32	Genetic Variants in Egyptian Patients Receiving HCQ(Hydroxychloroquine)	Not yet recruiting	NCT03180190		Hydroxychloroquine Oral Tablet
33	Novel Quantification Methods for Fluorescence to Detect Progression in Stargardt Disease	Terminated	NCT01676766

Search NIH Clinical Center for Stargardt Disease

Cell-based therapeutics:

Data from LifeMap, the Embryonic Development and Stem Cells Database

Read about Stargardt Disease cell therapies at LifeMap Discovery.

Stem-cell-based therapeutic approaches for Stargardt Disease:

MA09-hRPE, embryonic retinal pigmented epithelial cells for degenerative macular diseases

Embryonic/Adult Cultured Cells Related to Stargardt Disease:

Mature retinal pigmented epithelium cells PMIDs: 19521979 22281388

Sources

Genetic Tests for Stargardt Disease

Genetic tests related to Stargardt Disease:

#	Genetic test	Affiliating Genes
1	Stargardt Disease ³⁰

Sources

Anatomical Context for Stargardt Disease

MalaCards organs/tissues related to Stargardt Disease:

⁴²

Eye, Retina, Testes, Skin, Cortex

Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Stargardt Disease:

#	Tissue Anatomical CompartmentCell	Relevance
1	Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells	Affected by disease, potential therapeutic candidate
2	Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells	Affected by disease, potential therapeutic candidate

Sources

Publications for Stargardt Disease

Articles related to Stargardt Disease:

(show top 50) (show all 294)

#	Title	Authors	Year
1	Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt disease using en face OCT and OCT Angiography. ( 30771335 )	Alabduljalil T...Yang P	2019
2	Hyperreflective foci in Stargardt disease: 1-year follow-up. ( 30374616 )	Battaglia Parodi M...Bandello F	2019
3	Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease. ( 30563929 )	Xiang Q...Deng H	2019
4	Impact of segmentation density on spectral domain optical coherence tomography assessment in Stargardt disease. ( 30613916 )	Velaga SB...Sadda SR	2019
5	Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. ( 30643219 )	Sangermano R...Cremers FPM	2019
6	Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease. ( 30834176 )	Tanna P...Michaelides M	2019
7	Visual rehabilitation using video game stimulation for Stargardt disease. ( 30886944 )	Ratra D...Ratra V	2019
8	An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. ( 30889179 )	M?kel?inen S...Bergstr?m TF	2019
9	High-Resolution Adaptive Optics in Vivo Autofluorescence Imaging in Stargardt Disease. ( 30896765 )	Song H...Chung MM	2019
10	The absence of fundus abnormalities in Stargardt disease. ( 30903310 )	Bax NM...Hoyng CB	2019
11	Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. ( 29925512 )	Fujinami K.....	2018
12	Dual AAV Vectors for Stargardt Disease. ( 29188512 )	Trapani I.	2018
13	Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing. ( 29975949 )	Sung Y....Song W.K.	2018
14	EDI OCT evaluation of choroidal thickness in Stargardt disease. ( 29304098 )	Sodi A....Rizzo S.	2018
15	A non-retinoid antagonist of Retinol-Binding Protein 4 rescues phenotype in a model of Stargardt disease without inhibiting the visual cycle. ( 29871924 )	Racz B....Petrukhin K.	2018
16	Visual Acuity Change Over 24 Months and its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10. ( 29902293 )	Kong X....Scholl H.P.N.	2018
17	Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease (SMART) Study: Design and Baseline Characteristics (Report No. 1). ( 29940588 )	Strauss R.W....Scholl H.P.N.	2018
18	Swept-source optical coherence tomography study of choroidal morphology in Stargardt disease. ( 29930450 )	Ratra D....Ratra V.	2018
19	Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease. ( 29701254 )	Paavo M....Sparrow J.R.	2018
20	<i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. ( 29162642 )	Sangermano R....Cremers F.P.M.	2018
21	Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New <i>ABCA4</i> Mutations. ( 29736279 )	Falfoul Y....El Matri L.	2018
22	Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease. ( 29526278 )	Albert S....Cremers F.P.M.	2018
23	Mutation Spectrum of the <i>ABCA4</i> Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles. ( 29854428 )	Smaragda K....Miltiadis T.K.	2018
24	The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. ( 29971439 )	Runhart E.H....Cremers F.P.M.	2018
25	ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A&gt;G and c.5461-10T&gt;C cause Stargardt disease due to defective splicing. ( 29461686 )	Jonsson F....Golovleva I.	2018
26	Longitudinal Changes of Fixation Location and Stability within 12 Months in Stargardt Disease: ProgStar Report No. 12. ( 29890160 )	SchAPnbach E.M....Scholl H.P.N.	2018
27	Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes. ( 29848554 )	Zernant J....Allikmets R.	2018
28	Visual Cortex Activation in Patients With Stargardt Disease. ( 29625472 )	Melillo P....Simonelli F.	2018
29	Treatments for dry age-related macular degeneration and Stargardt disease: a systematic review. ( 29846169 )	Waugh N....Lois N.	2018
30	Omega-3 Fatty Acids Supplementation: Therapeutic Potential in a Mouse Model of Stargardt Disease. ( 29860462 )	Prokopiou E....Georgiou T.	2018
31	Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease. ( 29847635 )	Garces F....Molday R.S.	2018
32	Vitamin A in Stargardt disease-an evidence-based update. ( 29939824 )	Federspiel C.A....Kessel L.	2018
33	Quantifying the Rate of Ellipsoid Zone Loss in Stargardt Disease. ( 29126757 )	Cai C.X....Handa J.T.	2018
34	CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease. ( 30285522 )	Sodi A...Virgili G	2018
35	Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease. ( 30055151 )	Lee W...Allikmets R	2018
36	Variants in the ABCA4 gene in a Brazilian population with Stargardt disease. ( 30093795 )	Salles MV...Sallum JF	2018
37	The Progression of the Stargardt Disease Type 4 (ProgStar-4) Study: Design and Baseline Characteristics (ProgStar-4 Report No. 1). ( 30110705 )	Strauss RW...for?the?ProgStar-4?Study?Group	2018
38	Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study. ( 30140905 )	M?ller PL...Fleckenstein M	2018
39	CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION. ( 30204727 )	Collison FT...Allikmets R	2018
40	Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease. ( 30480703 )	Allikmets R...Lee W	2018
41	Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease. ( 30480704 )	Cremers FPM...Astuti GDN	2018
42	Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease. ( 30510854 )	Tanna P...Michaelides M	2018
43	Stargardt Disease. ( 30578500 )	Tsang SH...Sharma T	2018
44	Factors influencing the choice of low-vision devices for visual rehabilitation in Stargardt disease. ( 30582217 )	Das K...Ratra D	2018
45	Corrigendum to "Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles". ( 30647958 )	Kamakari S...Tsilimbaris MK	2018
46	Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease. ( 28912967 )	Abed E....Falsini B.	2017
47	The Importance of Outcome Measure Research in Stargardt Disease. ( 28542669 )	Cukras C....Jeffrey B.G.	2017
48	[Molecular genetic diagnosis of Stargardt disease]. ( 28980559 )	Sheremet N.L....Strel'nikov V.V.	2017
49	CHOROIDAL STRUCTURAL CHANGES AND VASCULARITY INDEX IN STARGARDT DISEASE ON SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY. ( 29016459 )	Ratra D....Agrawal R.	2017
50	ELLIPSOID ZONE MAPPING AND OUTER RETINAL ASSESSMENT IN STARGARDT DISEASE. ( 28613213 )	Arepalli S....Ehlers J.P.	2017

Sources

Genes for Stargardt Disease

Genes related to Stargardt Disease (6 elite genes):

(show all 24)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	824	Pathogenic ⁶ Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	9781034 16546111 18285826
2	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	423.21	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
3	PROM1	Prominin 1	Protein Coding	413.27	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)
4	ELOVL4	ELOVL Fatty Acid Elongase 4	Protein Coding	396.12	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
5	CNGB3	Cyclic Nucleotide Gated Channel Beta 3	Protein Coding	68.19	Candidate gene tested ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)
6	PRPH2	Peripherin 2	Protein Coding	47.68	Candidate gene tested ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	22.79	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	21.14	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	MFSD8	Major Facilitator Superfamily Domain Containing 8	Protein Coding	17.04	GeneCards inferred via : Variants (show sections)
10	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	16.31	DISEASES inferred ¹⁵
11	RHO	Rhodopsin	Protein Coding	15.53	DISEASES inferred ¹⁵
12	RDH12	Retinol Dehydrogenase 12	Protein Coding	15.37	DISEASES inferred ¹⁵
13	EYS	Eyes Shut Homolog	Protein Coding	15.32	DISEASES inferred ¹⁵
14	MYO7A	Myosin VIIA	Protein Coding	15.02	DISEASES inferred ¹⁵
15	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	15	DISEASES inferred ¹⁵
16	USH2A	Usherin	Protein Coding	14.94	DISEASES inferred ¹⁵
17	DR1	Down-Regulator Of Transcription 1	Protein Coding	10.26	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	SENP7	SUMO Specific Peptidase 7	Protein Coding	6.69	GeneCards inferred via : Publications (show sections)
19	RDH8	Retinol Dehydrogenase 8	Protein Coding	6.29	DISEASES inferred ¹⁵
20	FAM53B	Family With Sequence Similarity 53 Member B	Protein Coding	4.84	DISEASES inferred ¹⁵
21	PDE6H	Phosphodiesterase 6H	Protein Coding	4.7	DISEASES inferred ¹⁵
22	MERTK	MER Proto-Oncogene, Tyrosine Kinase	Protein Coding	4.7	DISEASES inferred ¹⁵
23	SIGLEC10	Sialic Acid Binding Ig Like Lectin 10	Protein Coding	4.68	DISEASES inferred ¹⁵
24	IMPG1	Interphotoreceptor Matrix Proteoglycan 1	Protein Coding	4.68	DISEASES inferred ¹⁵

Sources

Variations for Stargardt Disease

ClinVar genetic disease variations for Stargardt Disease:

⁶ (show all 14)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ABCA4	NM_000350.2(ABCA4): c.5908C> T (p.Leu1970Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28938473	GRCh37	Chromosome 1, 94473287: 94473287
2	ABCA4	NM_000350.2(ABCA4): c.5908C> T (p.Leu1970Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28938473	GRCh38	Chromosome 1, 94007731: 94007731
3	ABCA4	NM_000350.2(ABCA4): c.5912T> G (p.Leu1971Arg)	single nucleotide variant	Pathogenic	rs61753034	GRCh37	Chromosome 1, 94473283: 94473283
4	ABCA4	NM_000350.2(ABCA4): c.5912T> G (p.Leu1971Arg)	single nucleotide variant	Pathogenic	rs61753034	GRCh38	Chromosome 1, 94007727: 94007727
5	ABCA4	NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro)	single nucleotide variant	Pathogenic	rs61753033	GRCh37	Chromosome 1, 94474323: 94474323
6	ABCA4	NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro)	single nucleotide variant	Pathogenic	rs61753033	GRCh38	Chromosome 1, 94008767: 94008767
7	ABCA4	NM_000350.2(ABCA4): c.5714+5G> A	single nucleotide variant	Pathogenic	rs61751407	GRCh37	Chromosome 1, 94476351: 94476351
8	ABCA4	NM_000350.2(ABCA4): c.5714+5G> A	single nucleotide variant	Pathogenic	rs61751407	GRCh38	Chromosome 1, 94010795: 94010795
9	ABCA4	NM_000350.2(ABCA4): c.4253+5G> A	single nucleotide variant	Pathogenic	rs61750138	GRCh38	Chromosome 1, 94030991: 94030991
10	ABCA4	NM_000350.2(ABCA4): c.4253+5G> A	single nucleotide variant	Pathogenic	rs61750138	GRCh37	Chromosome 1, 94496547: 94496547
11	CRB1	NM_201253.2(CRB1): c.3172G> T (p.Glu1058Ter)	single nucleotide variant	Pathogenic	rs564754426	GRCh38	Chromosome 1, 197435035: 197435035
12	CRB1	NM_201253.2(CRB1): c.3172G> T (p.Glu1058Ter)	single nucleotide variant	Pathogenic	rs564754426	GRCh37	Chromosome 1, 197404165: 197404165
13	CRB1	NM_201253.2(CRB1): c.849-26A> G	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 197347314: 197347314
14	CRB1	NM_201253.2(CRB1): c.849-26A> G	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 197316444: 197316444

Sources

Expression for Stargardt Disease

Search GEO for disease gene expression data for Stargardt Disease.

Sources

Pathways for Stargardt Disease

Pathways related to Stargardt Disease according to KEGG:

³⁸

#	Name	Kegg Source Accession
1	ABC transporters	hsa02010
2	Fatty acid elongation	hsa00062
3	Biosynthesis of unsaturated fatty acids	hsa01040

Pathways related to Stargardt Disease according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Drug metabolism - cytochrome P450 ³⁸ Show member pathways Aflatoxin B1 metabolism ¹ Artemisinin and Derivatives Pathway, Pharmacokinetics ⁶² Arylamine metabolism ¹ Benzo[a]pyrene metabolism ²³ Benzodiazepine Pathway, Pharmacokinetics ⁶² Celecoxib Pathway, Pharmacokinetics ⁶² Chemical carcinogenesis ³⁸ Drug metabolism - other enzymes ³⁸ Fluvoxamine Pathway, Pharmacokinetics ⁶² Haloperidol Pathway, Pharmacokinetics ⁶² Ifosfamide Pathway, Pharmacokinetics ⁶² Metabolism of xenobiotics by cytochrome P450 ³⁸ Naproxen Pathway, Pharmacokinetics ⁶² Nicotine Metabolism ¹ Nicotine Pathway, Pharmacokinetics ⁶² Oxycodone Pathway, Pharmacokinetics ⁶² Retinol metabolism ³⁸ Retinol metabolism ²³ Sertraline Pathway, Pharmacokinetics ⁶² Voriconazole Pathway, Pharmacokinetics ⁶²	12.53	LRAT RDH12 RDH8 RHO RPE65
2	Metabolism of fat-soluble vitamins ⁶⁷ Show member pathways Metabolism of vitamin K ⁶⁷ Retinoid metabolism and transport ⁶⁷ The retinoid cycle in cones (daylight vision) ⁶⁷ Visual phototransduction ⁶⁷ Vitamin D (calciferol) metabolism ⁶⁷	12.13	ABCA4 LRAT MYO7A RDH12 RDH8 RHO
3	Phototransduction ³⁸ Show member pathways Activation of the phototransduction cascade ⁶⁷ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁷ The phototransduction cascade ⁶⁷ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.99	CNGB3 GNAT2 LRAT RDH12 RHO RPE65
4	Visual Cycle in Retinal Rods ⁶⁵	11.47	CNGB3 GNAT2 LRAT RDH12 RDH8 RHO
5	Vitamin A and Carotenoid Metabolism ¹	11.31	LRAT RDH12 RDH8 RPE65
6	Development_Thrombopoetin signaling via JAK-STAT pathway ²³	11.06	CNGB3 GNAT2 LRAT RDH12 RDH8 RHO
7	the visual cycle I (vertebrates) ¹ Show member pathways retinol biosynthesis ¹ The canonical retinoid cycle in rods (twilight vision) ⁶⁷	10.91	ABCA4 LRAT MYO7A RDH12 RDH8 RHO

Sources

GO Terms for Stargardt Disease

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

#	Name	GO ID	Score	Top Affiliating Genes
1	apical plasma membrane	GO:0016324	9.67	CRB1 MYO7A PROM1 USH2A
2	microvillus	GO:0005902	9.5	CRB1 MYO7A PROM1
3	photoreceptor disc membrane	GO:0097381	9.4	ABCA4 RHO
4	photoreceptor inner segment	GO:0001917	9.35	CRB1 GNAT2 MYO7A RHO USH2A
5	photoreceptor outer segment membrane	GO:0042622	9.33	GNAT2 PROM1 RHO
6	photoreceptor inner segment membrane	GO:0060342	9.26	RDH12 RHO
7	photoreceptor outer segment	GO:0001750	9.23	ABCA4 CNGB3 GNAT2 MYO7A PROM1 PRPH2

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.7	ABCA4 CNGB3 EYS GNAT2 LRAT RDH12
2	retina development in camera-type eye	GO:0060041	9.65	PRPH2 RHO RPE65
3	retinoid metabolic process	GO:0001523	9.65	ABCA4 LRAT RDH12 RHO RPE65
4	retinol metabolic process	GO:0042572	9.62	LRAT RDH12 RDH8 RPE65
5	detection of light stimulus involved in visual perception	GO:0050908	9.58	EYS GNAT2 RPE65
6	photoreceptor cell maintenance	GO:0045494	9.55	ABCA4 PROM1 RDH12 RHO USH2A
7	response to light stimulus	GO:0009416	9.54	RHO RPE65
8	sensory perception of light stimulus	GO:0050953	9.54	MYO7A RHO USH2A
9	eye photoreceptor cell development	GO:0042462	9.52	CRB1 MYO7A
10	retina morphogenesis in camera-type eye	GO:0060042	9.51	PROM1 RPE65
11	phototransduction, visible light	GO:0007603	9.49	ABCA4 RHO
12	inner ear receptor cell differentiation	GO:0060113	9.46	MYO7A USH2A
13	visual perception	GO:0007601	9.44	ABCA4 CNGB3 EYS GNAT2 LRAT MYO7A
14	vitamin A metabolic process	GO:0006776	9.43	LRAT RPE65

Molecular functions related to Stargardt Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	retinol dehydrogenase activity	GO:0004745	9.16	RDH12 RDH8
2	NADP-retinol dehydrogenase activity	GO:0052650	8.96	RDH12 RDH8
3	G protein-coupled photoreceptor activity	GO:0008020	8.8	ELOVL4 GNAT2 RHO

Sources

Sources for Stargardt Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia