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

Sources

Aliases & Classifications for Stargardt Disease

MalaCards integrated aliases for Stargardt Disease:

Name: Stargardt Disease ³⁹ ¹¹ ¹⁹ ⁴² ⁵⁸ ⁷⁵ ²⁸ ⁵ ⁴³ ¹⁴ ³⁶

Stargardt Macular Dystrophy ¹⁹ ⁵

Stargardt Disease 1 ¹¹ ⁷¹

Macular Dystrophy with Flecks, Type 1 ⁴²

Juvenile Onset Macular Degeneration ¹⁹

Stargardt Macular Degeneration ⁴²

Juvenile Macular Degeneration ⁴²

Fundus Flavimaculatus ⁵⁸

Stargardt Disease-1 ³⁹

Stargardts Disease ⁵³

Stargardt 1 ⁵⁸

Stgd ⁴²

Characteristics:

Inheritance:

Autosomal dominant,Autosomal recessive ⁵⁸

Prevelance:

1-5/10000 (Europe) ⁵⁸

Age Of Onset:

Adolescent,Adult,Childhood,Elderly ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

Orphanet: ⁵⁸

Rare eye diseases

External Ids:

Disease Ontology ¹¹ DOID:0050817

MeSH ⁴³ D000080362

ICD10 via Orphanet ³² H35.5

UMLS via Orphanet ⁷² C0271093 C1855465

Orphanet ⁵⁸ ORPHA827

SNOMED-CT via HPO ⁶⁹ 102968003 13164000 23289000 more

UMLS ⁷¹ C1855465

Sources

Summaries for Stargardt Disease

MedlinePlus Genetics: ⁴² Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. In addition to central vision loss, people with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.

MalaCards based summary: Stargardt Disease, also known as stargardt macular dystrophy, is related to stargardt disease 3 and stargardt disease 1. An important gene associated with Stargardt Disease is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Diseases of the neuronal system. The drugs Metformin and Acetic acid have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are reduced visual acuity and abnormality of visual evoked potentials

GARD: ¹⁹ 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. It is most commonly caused by genetic changes in the ABCA4 gene and inherited in an autosomal recessive manner. Rarely it may be caused by genetic changes in other genes and inherited in an autosomal dominant manner.

Orphanet: ⁵⁸ A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.

Disease Ontology: ¹¹ An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.

Wikipedia: ⁷⁵ Stargardt disease is the most common inherited single-gene retinal disease. In terms of the first... more...

Sources

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 223)

#	Related Disease	Score	Top Affiliating Genes
1	stargardt disease 3	33.2	ELOVL4 ABCA4
2	stargardt disease 1	32.9	TULP1 RDH12 PRPH2 PROM1 MFSD8 KCNV2
3	severe early-childhood-onset retinal dystrophy	31.9	MFSD8 CNGB3 ABCA4
4	macular degeneration, age-related, 1	31.7	RPGR RHO RDH12 PRPH2 GNAT2 FLVCR1
5	retinal disease	31.6	RPGR RHO PRPH2 CRX CRB1 CFH
6	retinitis	31.5	TULP1 RPGR RHO PRPH2 FLVCR1 EYS
7	peripheral retinal degeneration	31.5	RPGR RHO COL2A1 CNGB3 ABCA4
8	scotoma	31.5	RPGR RHO PRPH2 GNAT2 CNGB3 ABCA4
9	cone-rod dystrophy 3	31.4	RPGR CRX ABCA4
10	leber congenital amaurosis 4	31.4	TULP1 RDH12 PRPH2 CRX CRB1
11	retinal degeneration	31.3	TULP1 RPGR RHO RDH12 PRPH2 PROM1
12	retinitis pigmentosa	31.3	TULP1 RPGR RHO RDH12 PRPH2 PROM1
13	cone-rod dystrophy 2	31.2	TULP1 RPGR RHO RDH12 PRPH2 PROM1
14	retinitis pigmentosa 19	31.2	RPGR ELOVL4 ABCA4
15	fundus dystrophy	31.1	TULP1 RPGR RHO RDH12 PRPH2 PROM1
16	macular dystrophy, vitelliform, 2	30.9	PRPH2 BEST1
17	hereditary retinal dystrophy	30.9	RHO PRPH2 EYS ELOVL4 CRB1 BEST1
18	leber congenital amaurosis 8	30.9	TULP1 RDH12 CRX CRB1
19	choroideremia	30.9	RPGR RHO PRPH2 EYS CNGB3 BEST1
20	eye disease	30.8	TULP1 RPGR RHO RDH12 PRPH2 GPHN
21	retinitis pigmentosa 7	30.8	RHO PRPH2 ABCA4
22	macular dystrophy, patterned, 1	30.7	PRPH2 BEST1
23	refractive error	30.7	RPGR RHO CRB1 COL2A1 CFH BEST1
24	tritanopia	30.7	GNAT2 CNGB3
25	retinoschisis 1, x-linked, juvenile	30.7	RPGR RHO PRPH2 KCNV2 GNAT2 CRX
26	doyne honeycomb retinal dystrophy	30.6	PRPH2 ELOVL4 CRB1 CFH BEST1 ABCA4
27	leber plus disease	30.6	TULP1 RPGR RHO RDH12 PRPH2 PROM1
28	myopia	30.6	RPGR RHO COL2A1 CNGB3
29	vitelliform macular dystrophy	30.6	RPGR RHO PRPH2 KCNV2 EYS ELOVL4
30	fundus albipunctatus	30.6	TULP1 RPGR RHO RDH12 PRPH2 EYS
31	retinitis pigmentosa 12	30.6	RPGR CRB1
32	macular retinal edema	30.6	RHO CRB1 BEST1 ABCA4
33	progressive cone dystrophy	30.5	RPGR PRPH2 KCNV2 GNAT2 CNGB3 ABCA4
34	occult macular dystrophy	30.5	RPGR PRPH2 KCNV2 EYS CRX CNGB3
35	bardet-biedl syndrome	30.5	TULP1 RPGR RHO RDH12 PRPH2 EYS
36	gyrate atrophy of choroid and retina	30.5	RPGR RHO RDH12 PRPH2 CNGB3 BEST1
37	color blindness	30.4	RPGR RHO PRPH2 KCNV2 GNAT2 EYS
38	retinal detachment	30.4	RHO COL2A1 CFH
39	night blindness	30.4	TULP1 RPGR RHO RDH12 PRPH2 KCNV2
40	congenital stationary night blindness	30.3	TULP1 RPGR RHO RDH12 PRPH2 KCNV2
41	pathologic nystagmus	30.3	GNAT2 CNGB3
42	cone dystrophy	30.3	TULP1 RPGR RHO RDH12 PRPH2 KCNV2
43	hypotrichosis, congenital, with juvenile macular dystrophy	11.7
44	stargardt disease 4	11.6
45	multifocal pattern dystrophy simulating fundus flavimaculatus	11.4
46	stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic facial features	11.4
47	inherited retinal disorder	10.5
48	cone-rod dystrophy 1	10.5	RPGR CNGB3
49	leber congenital amaurosis 1	10.5	TULP1 PROM1 CRX CRB1
50	toxic maculopathy	10.5	PRPH2 ELOVL4 ABCA4

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

Sources

Symptoms & Phenotypes for Stargardt Disease

Human phenotypes related to Stargardt Disease:

⁵⁸ ³⁰ (show all 15)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	reduced visual acuity ⁵⁸ ³⁰	Obligate (100%)	Obligate (100%)	HP:0007663
2	abnormality of visual evoked potentials ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000649
3	nyctalopia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000662
4	color vision defect ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000551
5	paroxysmal involuntary eye movements ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0007704
6	macular degeneration ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000608
7	abnormal choroid morphology ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000610
8	abnormality of macular pigmentation ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0008002
9	retinal pigment epithelial mottling ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0007814
10	abnormal foveal morphology ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000493
11	central scotoma ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000603
12	retinal pigment epithelial atrophy ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0007722
13	retinal thinning ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0030329
14	aplasia/hypoplasia of the macula ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0008059
15	yellow/white lesions of the macula ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0030500

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

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.15	ABCA4 BEST1 CFH CNGB3 COL2A1 CRB1
2	no effect	GR00402-S-2	10.15	ABCA4 CFH CNGB3 COL2A1 CRB1 CRX

MGI Mouse Phenotypes related to Stargardt Disease:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.19	ABCA4 CFH CNGB3 COL2A1 CRB1 CRX
2	pigmentation	MP:0001186	10.1	ABCA4 BEST1 CFH CRB1 CRX ELOVL4
3	cellular	MP:0005384	9.97	BEST1 CNGB3 COL2A1 CRB1 ELOVL4 GPHN
4	cardiovascular system	MP:0005385	9.77	ABCA4 CFH COL2A1 CRB1 CRX FLVCR1
5	vision/eye	MP:0005391	9.58	ABCA4 BEST1 CFH CNGB3 COL2A1 CRB1

Sources

Drugs & Therapeutics for Stargardt Disease

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

(show all 18)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Metformin

Approved

Phase 1, Phase 2

1115-70-4, 657-24-9

4091

2

Acetic acid

Approved

Phase 2

64-19-7

176

3

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 2

22737-96-8, 68-26-8

5280382 445354

4

Zuretinol acetate

Investigational

Phase 2

127-47-9, 29584-22-3

10245972

5

Complement System Proteins

Phase 2

6

Hypoglycemic Agents

Phase 1, Phase 2

7

Vitamins

Phase 2

8

Adjuvants, Immunologic

Phase 2

9

Trace Elements

Phase 2

10

Micronutrients

Phase 2

11

Immunologic Factors

Phase 2

12

Retinol palmitate

Phase 2

13

Protective Agents

Phase 2

14

Pharmaceutical Solutions

Phase 1, Phase 2

15

Fomepizole

Approved, Vet_approved

Phase 1

7554-65-6

3406

16

Omega 3 Fatty Acid

Phase 1

17

Antidotes

Phase 1

18

Sunflower

Interventional clinical trials:

(show all 39)

#	Name	Status	NCT ID	Phase	Drugs
1	A Phase 3 Multicenter, Randomized, Double-Masked Study Comparing the Efficacy and Safety of Emixustat Hydrochloride With Placebo for the Treatment of Macular Atrophy Secondary to Stargardt Disease	Completed	NCT03772665	Phase 3	Emixustat;Placebo
2	Phase 3, Multicenter, Randomized, Double-Masked, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Tinlarebant in the Treatment of Stargardt Disease in Adolescent Subjects	Recruiting	NCT05244304	Phase 3	Tinlarebant;Placebo
3	Clinical Study of Subretinal Transplantation of Human Embryo Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Macular Degeneration Diseases	Unknown status	NCT02749734	Phase 1, Phase 2
4	A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations	Unknown status	NCT01278277	Phase 1, Phase 2
5	A Phase 2a Study of the Safety, Pharmacokinetics and Pharmacodynamics of STG-001 in Subjects With Stargardt Disease (STGD1) Caused by Autosomal Recessive Mutation in ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene	Completed	NCT04489511	Phase 2	STG-001
6	A Phase 2a Multicenter, Randomized, Masked Study Evaluating the Pharmacodynamics of Emixustat Hydrochloride in Subjects With Macular Atrophy Secondary to Stargardt Disease	Completed	NCT03033108	Phase 2	Emixustat
7	A Phase I/II, Open-Label, Multi-Center, Prospective 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)	Completed	NCT01469832	Phase 1, Phase 2
8	A Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (MA09-hRPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD)	Completed	NCT01345006	Phase 1, Phase 2
9	Stem Cell Derived Retinal Pigmented Epithelium Implantation in Patients With Outer Retinal Degenerations: Phase I/II Clinical Trial	Completed	NCT02903576	Phase 1, Phase 2
10	A Phase 2 Multicenter, Double-Masked, Randomized, Placebo-Controlled Study to Investigate the Long Term Safety, Tolerability, Pharmacokinetics and Effects of ALK-001 on the Progression of Stargardt Disease	Recruiting	NCT02402660	Phase 2	ALK-001;Placebo
11	A Phase 2b Randomized, Double-masked, Controlled Trial to Establish the Safety and Efficacy of Zimura™ (Complement C5 Inhibitor) Compared to Sham in Subjects With Autosomal Recessive Stargardt Disease	Recruiting	NCT03364153	Phase 2	Zimura
12	Oral Metformin for Treatment of ABCA4 Retinopathy	Recruiting	NCT04545736	Phase 1, Phase 2	Metformin hydrochloride
13	Phase 1/2, Open-Label, Dose-Finding Followed by 2-Year Extension Study to Evaluate Safety and Tolerability of Tinlarebant in Adolescent Subjects With Stargardt Disease	Active, not recruiting	NCT05266014	Phase 1, Phase 2	tinlarebant
14	A Phase 2a, Open Label Multicenter Clinical Trial to Evaluate the Safety and Effects of a Single Intravitreal Injection of vMCO-010 Optogenetic Therapy in Subjects With Stargardt Disease	Active, not recruiting	NCT05417126	Phase 2
15	An Open Label Study to Determine the Long Term Safety, Tolerability and Biological Activity of SAR422459 in Patients With Stargardt's Macular Degeneration	Active, not recruiting	NCT01736592	Phase 1, Phase 2	Long term follow up in all patients who received SAR422459 in previous study TDU13583
16	A Phase 2 Multicenter, Double-Masked, Randomized, Placebo-Controlled Study to Investigate the Long Term Safety, Tolerability, Pharmacokinetics and Effects of ALK-001 on the Progression of Stargardt Disease	Enrolling by invitation	NCT04239625	Phase 2	ALK-001
17	A Phase I/IIA Dose Escalation Safety Study of Subretinally Injected SAR422459, Administered to Patients With Stargardt's Macular Degeneration	Terminated	NCT01367444	Phase 1, Phase 2	SAR422459
18	Stem Cells Therapy in Degenerative Diseases of the Retina	Unknown status	NCT03772938	Phase 1
19	A Phase I, Open-Label, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial(MA09-hRPE) Cells in Patients With Stargardt's Macular Dystrophy(SMD)	Unknown status	NCT01625559	Phase 1
20	A Phase 1, Open Label, Repeat Dose Study to Investigate the Safety and Pharmacokinetics of 4-week Daily Dosing of ALK-001 in Healthy Volunteers	Completed	NCT02230228	Phase 1	ALK-001 (No generic name)
21	Investigation of the Effect of Dietary Docosahexaenoic Acid (DHA) Supplementation on Macular Function in Subjects With Autosomal Dominant Stargardt-Like and Autosomal Recessive Stargardt Macular Dystrophy	Completed	NCT00060749	Phase 1	Docosahexaenoic Acid (DHA) Dietary Supplement
22	Clinical Interventions Against Stargardt Macular Dystrophy: Phase 1 Pilot Study of 4-MP as an Inhibitor of Dark Adaptation	Completed	NCT00346853	Phase 1	4-Methylpyrazole
23	Visual Performance Measures in a Virtual Reality Environment for Assessing Clinical Trial Outcomes in Those With Severely Reduced Vision	Unknown status	NCT04281732
24	Natural History of Progression of Atrophy Secondary to Stargardt Disease: Retrospective, and Prospective Longitudinal Observational Study Incl. Ancillary SMART Study- Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease	Completed	NCT01977846
25	The Natural History of the Progression of Atrophy Secondary to Stargardt Disease Type 4 (STGD4): A Prospective Longitudinal Observational Study of Stargardt Disease Type 4, a PROM1- Related Macular Dystrophy	Completed	NCT02410122
26	Prospective, Randomised, Double-blind Study to Assess the Therapeutic Potential of Omega-3 Fatty Acids Supplementation in Dry Macular Degeneration and Stargardt Disease (Macular Degeneration Omega-3 Study - MADEOS	Completed	NCT03297515
27	¿Es Util la Acupuntura en la Degeneracion Macular? Prospective Study of Efficacy of Acupuncture in Macular Diseases	Completed	NCT02255981
28	New Methods of Dynamic Pupillometrics in Subjects With Visual and Color Vision Pathologies for the Detection, Functional Diagnosis and Follow-up of These Pathologies	Completed	NCT04909398
29	Clinical Interventions Against Stargardt Macular Dystrophy: DHA Supplementation in Patients With STGD3	Completed	NCT00420602
30	Long Term Follow Up to a Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (MA09-hRPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD)	Completed	NCT02445612
31	Follow-up to 5 Years of a Phase I/II, Open-Label, Multi-Center, Prospective 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)	Completed	NCT02941991
32	An Observational, Multi-Center Phase 1 Study of the Safety and Effectiveness of Frequency Specific Microcurrent Stimulation as an Alternative Treatment for Retinal Diseases	Completed	NCT01790958
33	Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II	Recruiting	NCT03011541
34	Structural and Functional Characterization of Rare Ocular Diseases	Recruiting	NCT05258032
35	Foundation Fighting Blindness My Retina Tracker Registry	Recruiting	NCT02435940
36	Rod and Cone Mediated Function in Retinal Disease	Recruiting	NCT02617966
37	Natural History of ABCA4-Related Retinopathies	Active, not recruiting	NCT01736293
38	Novel Quantification Methods for Fundus Flavoprotein Fluorescence and Lipofuscin Fluorescence to Detect Progression in Stargardt Disease	Terminated	NCT01676766
39	Oxidative Stress In Stargardt Disease, Age Related Macular Degeneration and Diabetic Retinopathy	Terminated	NCT02875704

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

Cochrane evidence based reviews: stargardt disease

Sources

Genetic Tests for Stargardt Disease

Genetic tests related to Stargardt Disease:

#	Genetic test	Affiliating Genes
1	Stargardt Disease ²⁸

Sources

Anatomical Context for Stargardt Disease

Organs/tissues related to Stargardt Disease:

MalaCards : Eye, Retina, Bone Marrow, Bone, Cortex, Brain, Skin

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 1270)

#	Title	Authors	PMID	Year
1	Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. ⁵³ ⁶² ⁵	Passerini I...Torricelli F	19265867	2010
2	ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. ⁵³ ⁶² ⁵	Kitiratschky VB...Wissinger B	18285826	2008
3	Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations? ⁵³ ⁶² ⁵	Stenirri S...Cremonesi L	18652558	2008
4	Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations. ⁵³ ⁶² ⁵	Aleman TS...Jacobson SG	17325179	2007
5	Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. ⁵³ ⁶² ⁵	Klevering BJ...Cremers FP	15494742	2004
6	Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. ⁵³ ⁶² ⁵	Oh KT...Billingslea AM	15579991	2004
7	Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa. ⁵³ ⁶² ⁵	Ozgul RK...Farber DB	15108289	2004
8	Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. ⁵³ ⁶² ⁵	Jaakson K...Allikmets R	14517951	2003
9	ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease. ⁵³ ⁶² ⁵	Baum L...Pang CP	12592048	2003
10	ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa. ⁵³ ⁶² ⁵	Fukui T...Tano Y	12202497	2002
11	Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. ⁵³ ⁶² ⁵	Shroyer NF...Lupski JR	11687513	2001
12	Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients. ⁵³ ⁶² ⁵	Fumagalli A...Cremonesi L	11702214	2001
13	A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. ⁵³ ⁶² ⁵	Rivera A...Weber BH	10958763	2000
14	Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. ⁵³ ⁶² ⁵	Maugeri A...Cremers FP	10958761	2000
15	Biochemical defects in ABCR protein variants associated with human retinopathies. ⁵³ ⁶² ⁵	Sun H...Nathans J	11017087	2000
16	New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. ⁵³ ⁶² ⁵	Simonelli F...Allikmets R	10711710	2000
17	Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. ⁵³ ⁶² ⁵	Shroyer NF...Lupski JR	10746567	2000
18	An analysis of ABCR mutations in British patients with recessive retinal dystrophies. ⁵³ ⁶² ⁵	Papaioannou M...Bhattacharya S	10634594	2000
19	A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. ⁵³ ⁶² ⁵	Zhang K...Allikmets R	10612508	1999
20	The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. ⁵³ ⁶² ⁵	Shroyer NF...Lupski JR	10396622	1999
21	Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. ⁵³ ⁶² ⁵	Rozet JM...Kaplan J	10874631	1999
22	The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. ⁵³ ⁶² ⁵	Maugeri A...Cremers FP	10090887	1999
23	Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. ⁵³ ⁶² ⁵	Lewis RA...Dean M	9973280	1999
24	Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. ⁵³ ⁶² ⁵	Rozet JM...Kaplan J	9781034	1998
25	Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. ⁵³ ⁶² ⁵	Cremers FP...Hoyng CB	9466990	1998
26	Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. ⁵³ ⁶² ⁵	Gerber S...Cremers FP	9503029	1998
27	Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. ⁵³ ⁶² ⁵	Allikmets R...Leppert M	9295268	1997
28	A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. ⁵³ ⁶² ⁵	Allikmets R...Lupski JR	9054934	1997
29	Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies. ⁶² ⁵	Sung YC...Chen TC	33261146	2020
30	Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants. ⁶² ⁵	Del Pozo-Valero M...Ayuso C	32619608	2020
31	Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. ⁶² ⁵	Khan M...Cremers FPM	32307445	2020
32	Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing. ⁶² ⁵	Raj RK...Sundaresan P	31934596	2020
33	A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). ⁶² ⁵	Sharon D...Perlman I	31456290	2020
34	Highly Variable Disease Courses in Siblings with Stargardt Disease. ⁶² ⁵	Valkenburg D...Hoyng CB	31522899	2019
35	Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland. ⁶² ⁵	Tracewska AM...Chrzanowska KH	31766579	2019
36	Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease. ⁶² ⁵	Nassisi M...Audo I	31614660	2019
37	Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles. ⁶² ⁵	Runhart EH...Hoyng CB	31618761	2019
38	Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. ⁶² ⁵	Sangermano R...Cremers FPM	30643219	2019
39	Modification of the PROM1 disease phenotype by a mutation in ABCA4. ⁶² ⁵	Lee W...Allikmets R	31576780	2019
40	Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases. ⁶² ⁵	Kim MS...Woo SJ	31144483	2019
41	The absence of fundus abnormalities in Stargardt disease. ⁶² ⁵	Bax NM...Hoyng CB	30903310	2019
42	Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations. ⁶² ⁵	Riera M...Sparrow JR	30798147	2019
43	Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease. ⁶² ⁵	Tanna P...Michaelides M	30834176	2019
44	Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. ⁶² ⁵	Fujinami K...ProgStar Study Group	29925512	2019
45	Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing. ⁶² ⁵	Sung Y...Song WK	29975949	2019
46	Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans. ⁶² ⁵	Joo K...Woo SJ	31814693	2019
47	ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing. ⁶² ⁵	Jonsson F...Golovleva I	29461686	2018
48	Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes. ⁶² ⁵	Zernant J...Allikmets R	29848554	2018
49	Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort. ⁶² ⁵	Nassisi M...Audo I	30060493	2018
50	Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease. ⁶² ⁵	Albert S...Cremers FPM	29526278	2018

Sources

Genes for Stargardt Disease

Genes related to Stargardt Disease (10 elite genes):

(show top 50) (show all 76)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	838.82	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	9054934 9295268 9466990 (more) 9490294 9503029 9781034 9973280 10090887 10206579 10396622 10413692 10509673 10612508 10634594 10711710 10746567 10874631 10880298 10958761 10958763 11017087 11123914 11328725 11527935 11687513 11702214 11846518 11919200 11973624 12037008 12192456 12592048 12796258 12962493 14517951 15192030 15516930 15579991 15614537 16103129 16303926 16400609 16546111 17325136 17982420 18285826 18652558 19074458 19217903 19265867 19339744 19365591 20029649 20647261 20696155 20981092 21786275 21873672 21911583 22025579 22229821 22264887 22312191 22328824 22449572 22661473 22863181 22968130 22995991 23096905 23134348 23143460 23144455 23419329 23443024 23591405 23695285 23755871 23769331 23918662 23953153 23982839 24082139 24097981 24154662 24265693 24342785 24444108 24453473 24509150 24585425 24713488 24938718 25066811 25082885 25087612 25097241 25283059 25312043 25333069 25346251 25356976 25412400 25472526 25474345 25525159 25544989 25640233 25712131 25741868 25910913 25921964 25922843 26047050 26092729 26103963 26161775 26229699 26247787 26261413 26377081 26780318 26872967 26976702 27367509 27535533 27739528 27775217 27820952 28041643 28118664 28130426 28181551 28224992 28341476 28446513 28492532 28559085 28947085 29114839 29145636 29162642 29186038 29310964 29422768 29461686 29555955 29854428 29925512 29975949 30060493 30093795 30192042 30576320 30718709 30834176 30903310 31144483 31522899 31576780 31766579 31814693 31934596 32531858 32783370 33546218 34008892 11385708 11673412 12202497 15108289 15494742 16682602 17277736 17296903 17325179 19243736 20108432 22661472 23105016 23424971 23499370 23776498 24011517 24743636 25082829 25698705 26593885 27939946 28355279 28365912 29848554 30643219 30798147 31213501 31456290 31614660 31618761 32307445 32619608 33223529 33261146 20633576 12224481 12353176 16703556 17997789 11384574 20128570 10442900 12754711 11379881 20138608 18977788 18214793 15161829 11726554 11346402 10458172 16917483 11818392 18463687 9810566 18024811 14750597 15369238 11804194 10736747 9202155 17932850 20419437 18506364 15017103 10913642 10634626 10438154 16303974 14709597 10486215 15223829 20238033 19430638 19028736 19352439 9881544 19230850 18334942 19578016 16681420 19959634
2	PROM1	Prominin 1	Protein Coding	792.63	Pathogenic ⁵ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	30718709 18654668
3	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	474.12	Pathogenic ⁵ Likely pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)	15712225
4	PRPH2	Peripherin 2	Protein Coding	466.22	Pathogenic ⁵ Likely pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
5	BEST1	Bestrophin 1	Protein Coding	432.75	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	30718709
6	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	415.22	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
7	TULP1	TUB Like Protein 1	Protein Coding	406.12	Pathogenic ⁵ DISEASES inferred ¹⁴
8	KCNV2	Potassium Voltage-Gated Channel Modifier Subfamily V Member 2	Protein Coding	405.96	Pathogenic ⁵ DISEASES inferred ¹⁴	30718709
9	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	400	Pathogenic ⁵
10	ELOVL4	ELOVL Fatty Acid Elongase 4	Protein Coding	385.41	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	20633576 14691150 16145543
11	CRX	Cone-Rod Homeobox	Protein Coding	39.86	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	30718709 17270046
12	EYS	Eyes Shut Homolog	Protein Coding	32.37	Likely pathogenic ⁵ DISEASES inferred ¹⁴	30718709
13	RDH12	Retinol Dehydrogenase 12	Protein Coding	32.22	Likely pathogenic ⁵ DISEASES inferred ¹⁴
14	MFSD8	Major Facilitator Superfamily Domain Containing 8	Protein Coding	29.18	Likely pathogenic ⁵ DISEASES inferred ¹⁴	25333361
15	FLVCR1	FLVCR Heme Transporter 1	Protein Coding	28.3	Likely pathogenic ⁵ DISEASES inferred ¹⁴	30718709
16	GPHN	Gephyrin	Protein Coding	25	Likely pathogenic ⁵
17	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	22.53	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7774932 7705831
18	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	15.4	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	RHO	Rhodopsin	Protein Coding	14.03	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15223829
20	CFH	Complement Factor H	Protein Coding	13.6	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	RBP4	Retinol Binding Protein 4	Protein Coding	12.86	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	8.39	DISEASES inferred ¹⁴
23	USH2A	Usherin	Protein Coding	7.58	DISEASES inferred ¹⁴
24	RDH8	Retinol Dehydrogenase 8	Protein Coding	7.53	DISEASES inferred ¹⁴
25	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	7.35	DISEASES inferred ¹⁴
26	CEP290	Centrosomal Protein 290	Protein Coding	7.2	DISEASES inferred ¹⁴
27	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	7.14	DISEASES inferred ¹⁴
28	MYO7A	Myosin VIIA	Protein Coding	7.04	DISEASES inferred ¹⁴
29	RLBP1	Retinaldehyde Binding Protein 1	Protein Coding	6.88	DISEASES inferred ¹⁴
30	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	6.78	DISEASES inferred ¹⁴
31	MERTK	MER Proto-Oncogene, Tyrosine Kinase	Protein Coding	6.78	DISEASES inferred ¹⁴
32	PRPF31	Pre-MRNA Processing Factor 31	Protein Coding	6.77	DISEASES inferred ¹⁴
33	NR2E3	Nuclear Receptor Subfamily 2 Group E Member 3	Protein Coding	6.63	DISEASES inferred ¹⁴
34	RDH5	Retinol Dehydrogenase 5	Protein Coding	6.55	DISEASES inferred ¹⁴
35	RP1L1	RP1 Like 1	Protein Coding	6.55	DISEASES inferred ¹⁴
36	SFTA3	Surfactant Associated 3	RNA Gene	6.48	DISEASES inferred ¹⁴
37	CERKL	Ceramide Kinase Like	Protein Coding	6.48	DISEASES inferred ¹⁴
38	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	6.44	DISEASES inferred ¹⁴
39	PDE6B	Phosphodiesterase 6B	Protein Coding	6.41	DISEASES inferred ¹⁴
40	NRL	Neural Retina Leucine Zipper	Protein Coding	6.39	DISEASES inferred ¹⁴
41	GRK1	G Protein-Coupled Receptor Kinase 1	Protein Coding	6.37	DISEASES inferred ¹⁴
42	CHM	CHM Rab Escort Protein	Protein Coding	6.34	DISEASES inferred ¹⁴
43	ROM1	Retinal Outer Segment Membrane Protein 1	Protein Coding	6.24	DISEASES inferred ¹⁴
44	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	6.2	DISEASES inferred ¹⁴
45	FAM161A	FAM161 Centrosomal Protein A	Protein Coding	6.16	DISEASES inferred ¹⁴
46	PDE6C	Phosphodiesterase 6C	Protein Coding	6.13	DISEASES inferred ¹⁴
47	PDE6A	Phosphodiesterase 6A	Protein Coding	6.12	DISEASES inferred ¹⁴
48	IMPG2	Interphotoreceptor Matrix Proteoglycan 2	Protein Coding	6.06	DISEASES inferred ¹⁴
49	RDH11	Retinol Dehydrogenase 11	Protein Coding	6.05	DISEASES inferred ¹⁴
50	PDE6H	Phosphodiesterase 6H	Protein Coding	6.05	DISEASES inferred ¹⁴

Sources

Variations for Stargardt Disease

ClinVar genetic disease variations for Stargardt Disease:

⁵ (show top 50) (show all 624)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ABCA4	NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	SNV	Established Risk Allele Likely Pathogenic	7913	rs1801581	GRCh37: 1:94512565-94512565 GRCh38: 1:94047009-94047009
2	ABCA4	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	SNV	Pathogenic Pathogenic Pathogenic	7879	rs76157638	GRCh37: 1:94517254-94517254 GRCh38: 1:94051698-94051698
3	ABCA4	NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs)	INSERT	Pathogenic	7887	rs61750064	GRCh37: 1:94508434-94508435 GRCh38: 1:94042878-94042879
4	ABCA4	NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	SNV	Pathogenic Conflicting Interpretations Of Pathogenicity	7892	rs28938473	GRCh37: 1:94473287-94473287 GRCh38: 1:94007731-94007731
5	ABCA4	NM_000350.3(ABCA4):c.1937+1G>A	SNV	Pathogenic	99104	rs61752401	GRCh37: 1:94528132-94528132 GRCh38: 1:94062576-94062576
6	ABCA4	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	DEL	Pathogenic	99419	rs61751389	GRCh37: 1:94473278-94473278 GRCh38: 1:94007722-94007722
7	ABCA4	NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)	SNV	Pathogenic Likely Pathogenic	99224	rs1801269	GRCh37: 1:94506901-94506901 GRCh38: 1:94041345-94041345
8	ABCA4	NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	SNV	Pathogenic Pathogenic Pathogenic/Likely Pathogenic	7907	rs61751383	GRCh37: 1:94471056-94471056 GRCh38: 1:94005500-94005500
9	ABCA4	NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	SNV	Pathogenic Pathogenic/Likely Pathogenic	99303	rs61750152	GRCh37: 1:94490567-94490567 GRCh38: 1:94025011-94025011
10	ABCA4	NM_000350.3(ABCA4):c.834del (p.Asp279fs)	DEL	Pathogenic	812208	rs779743222	GRCh37: 1:94548932-94548932 GRCh38: 1:94083376-94083376
11	PRPH2	NM_000322.5(PRPH2):c.828+3A>T	SNV	Pathogenic	98713	rs281865373	GRCh37: 6:42672100-42672100 GRCh38: 6:42704362-42704362
12	ABCA4	NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)	DEL	Pathogenic	99026	rs63749083	GRCh37: 1:94546095-94546108 GRCh38: 1:94080539-94080552
13	ABCA4	NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro)	SNV	Pathogenic	812197	rs1571252997	GRCh37: 1:94480179-94480179 GRCh38: 1:94014623-94014623
14	ABCA4	NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	SNV	Pathogenic Likely Pathogenic	99321	rs61750155	GRCh37: 1:94487251-94487251 GRCh38: 1:94021695-94021695
15	ABCA4	NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	SNV	Pathogenic Pathogenic/Likely Pathogenic	99283	rs61750145	GRCh37: 1:94495083-94495083 GRCh38: 1:94029527-94029527
16	PRPH2	NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)	SNV	Pathogenic	425378	rs986748364	GRCh37: 6:42672278-42672278 GRCh38: 6:42704540-42704540
17	TULP1	NM_003322.6(TULP1):c.1201C>T (p.Gln401Ter)	SNV	Pathogenic	813100	rs1761021773	GRCh37: 6:35471537-35471537 GRCh38: 6:35503760-35503760
18	ABCA4	NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser)	SNV	Pathogenic	623692	rs1557770154	GRCh37: 1:94490546-94490546 GRCh38: 1:94024990-94024990
19	ABCA4	NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile)	SNV	Pathogenic	806159	rs1208195953	GRCh37: 1:94474368-94474368 GRCh38: 1:94008812-94008812
20	ABCA4	NM_000350.3(ABCA4):c.6816+2T>A	SNV	Pathogenic	424900	rs112005636	GRCh37: 1:94461663-94461663 GRCh38: 1:93996107-93996107
21	PRPH2	NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)	SNV	Pathogenic	98703	rs61755814	GRCh37: 6:42672216-42672216 GRCh38: 6:42704478-42704478
22	PRPH2	NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	SNV	Pathogenic	13170	rs61755792	GRCh37: 6:42689559-42689559 GRCh38: 6:42721821-42721821
23	PRPH2	NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	SNV	Pathogenic	13167	rs61755793	GRCh37: 6:42689558-42689558 GRCh38: 6:42721820-42721820
24	ABCA4	NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	SNV	Pathogenic	99263	rs61750137	GRCh37: 1:94496571-94496571 GRCh38: 1:94031015-94031015
25	ABCA4	NM_000350.3(ABCA4):c.4128+1G>A	SNV	Pathogenic	1342853		GRCh37: 1:94497333-94497333 GRCh38: 1:94031777-94031777
26	ABCA4	NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)	SNV	Pathogenic	99260	rs61750135	GRCh37: 1:94496583-94496583 GRCh38: 1:94031027-94031027
27	ABCA4	NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	SNV	Pathogenic Pathogenic Pathogenic/Likely Pathogenic	7882	rs61751408	GRCh37: 1:94471065-94471065 GRCh38: 1:94005509-94005509
28	ABCA4	NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	SNV	Pathogenic Pathogenic/Likely Pathogenic	99330	rs61751404	GRCh37: 1:94486896-94486896 GRCh38: 1:94021340-94021340
29	ABCA4	NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	SNV	Pathogenic Likely Pathogenic	7880	rs58331765	GRCh37: 1:94512602-94512602 GRCh38: 1:94047046-94047046
30	ABCA4	NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	SNV	Pathogenic	99288	rs61751402	GRCh37: 1:94495071-94495071 GRCh38: 1:94029515-94029515
31	ABCA4	NM_000350.3(ABCA4):c.1239+1G>C	SNV	Pathogenic	236079	rs765707028	GRCh37: 1:94544877-94544877 GRCh38: 1:94079321-94079321
32	ABCA4	NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	SNV	Pathogenic Pathogenic Likely Pathogenic	99431	rs61753038	GRCh37: 1:94471026-94471026 GRCh38: 1:94005470-94005470
33	PRPH2	NM_000322.5(PRPH2):c.394del (p.Gln132fs)	DEL	Pathogenic	684461	rs769723975	GRCh37: 6:42689679-42689679 GRCh38: 6:42721941-42721941
34	PRPH2	NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)	SNV	Pathogenic	866925	rs61755813	GRCh37: 6:42672223-42672223 GRCh38: 6:42704485-42704485
35	PRPH2	NM_000322.5(PRPH2):c.113del (p.Gly38fs)	DEL	Pathogenic	13177	rs61755769	GRCh37: 6:42689960-42689960 GRCh38: 6:42722222-42722222
36	CRB1	NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)	SNV	Pathogenic	521051	rs564754426	GRCh37: 1:197404165-197404165 GRCh38: 1:197435035-197435035
37	ABCA4	NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)	DEL	Pathogenic	99478	rs63749055	GRCh37: 1:94564440-94564452 GRCh38: 1:94098884-94098896
38	ABCA4	NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)	SNV	Pathogenic	236080	rs886044725	GRCh37: 1:94544209-94544209 GRCh38: 1:94078653-94078653
39	ABCA4	NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	SNV	Pathogenic Pathogenic	236096	rs201471607	GRCh37: 1:94512499-94512499 GRCh38: 1:94046943-94046943
40	ABCA4	NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter)	SNV	Pathogenic	488674	rs765429911	GRCh37: 1:94574256-94574256 GRCh38: 1:94108700-94108700
41	ABCA4	NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter)	SNV	Pathogenic	99240	rs61752425	GRCh37: 1:94502706-94502706 GRCh38: 1:94037150-94037150
42	ABCA4	NM_000350.3(ABCA4):c.5196+1G>A	SNV	Pathogenic	99351	rs61751377	GRCh37: 1:94485137-94485137 GRCh38: 1:94019581-94019581
43	ABCA4	NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)	SNV	Pathogenic	236106	rs746541266	GRCh37: 1:94497591-94497591 GRCh38: 1:94032035-94032035
44	ABCA4	NM_000350.3(ABCA4):c.4773+3A>G	SNV	Pathogenic	236122	rs759672616	GRCh37: 1:94487399-94487399 GRCh38: 1:94021843-94021843
45	ABCA4	NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	SNV	Pathogenic Likely Pathogenic	99311	rs1762111	GRCh37: 1:94487490-94487490 GRCh38: 1:94021934-94021934
46	ABCA4	NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)	SNV	Pathogenic	99305	rs62645957	GRCh37: 1:94586557-94586557 GRCh38: 1:94121001-94121001
47	ABCA4	NM_000350.3(ABCA4):c.67-1G>C	SNV	Pathogenic	236069	rs778908435	GRCh37: 1:94578623-94578623 GRCh38: 1:94113067-94113067
48	ABCA4	NM_000350.3(ABCA4):c.768G>T (p.Val256=)	SNV	Pathogenic Pathogenic/Likely Pathogenic	99505	rs62645944	GRCh37: 1:94564350-94564350 GRCh38: 1:94098794-94098794
49	ABCA4	NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	SNV	Pathogenic Pathogenic Pathogenic/Likely Pathogenic	7898	rs61750200	GRCh37: 1:94564484-94564484 GRCh38: 1:94098928-94098928
50	ABCA4	NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	SNV	Pathogenic Pathogenic/Likely Pathogenic	99331	rs61751403	GRCh37: 1:94486895-94486895 GRCh38: 1:94021339-94021339

Copy number variations for Stargardt Disease from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	13317	1	1	117600000	Microdeletion	ABCA4	Stargardt''s disease

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 GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Visual Cycle in Retinal Rods ⁶⁴	11.23	RHO RDH12 GNAT2 CNGB3
2	Diseases of the neuronal system ⁶⁶ Show member pathways Biosynthesis of A2E, implicated in retinal degradation ⁶⁶ Diseases associated with visual transduction ⁶⁶ Retinoid cycle disease events ⁶⁶ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	11.17	RHO RDH12 ABCA4
3	Visual signal transduction: Cones ⁶¹	10.16	RDH12 GNAT2 CNGB3

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	cell projection	GO:0042995	9.9	TULP1 RPGR RHO PRPH2 PROM1 GPHN
2	photoreceptor outer segment membrane	GO:0042622	9.73	RHO PROM1 GNAT2
3	photoreceptor inner segment	GO:0001917	9.73	CRB1 GNAT2 PRPH2 RDH12 RHO TULP1
4	photoreceptor inner segment membrane	GO:0060342	9.62	RHO RDH12
5	photoreceptor outer segment	GO:0001750	9.62	TULP1 RPGR RHO PRPH2 PROM1 GNAT2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor cell maintenance	GO:0045494	10.03	TULP1 RHO RDH12 PROM1 CRB1 ABCA4
2	detection of light stimulus involved in visual perception	GO:0050908	9.93	BEST1 CRB1 EYS GNAT2 PRPH2 TULP1
3	retina development in camera-type eye	GO:0060041	9.87	TULP1 RHO PRPH2 CRB1
4	response to stimulus	GO:0050896	9.77	TULP1 RPGR RHO RDH12 PRPH2 GNAT2
5	visual perception	GO:0007601	9.7	ABCA4 BEST1 CNGB3 COL2A1 CRB1 CRX
6	phototransduction, visible light	GO:0007603	9.67	RHO ABCA4
7	retina morphogenesis in camera-type eye	GO:0060042	9.58	PROM1 CRB1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	11-cis retinal binding	GO:0005502	9.26	RHO ABCA4
2	G protein-coupled photoreceptor activity	GO:0008020	9.1	RHO GNAT2 ELOVL4

Sources

Sources for Stargardt Disease

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

STGD MCID: STR022 MIFTS: 62	Stargardt Disease (STGD) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Stargardt Disease (STGD)

Aliases & Classifications for Stargardt Disease

MalaCards integrated aliases for Stargardt Disease:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Stargardt Disease

Related Diseases for Stargardt Disease

Diseases in the Stargardt Disease family:

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

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

Symptoms & Phenotypes for Stargardt Disease

Human phenotypes related to Stargardt Disease:

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

MGI Mouse Phenotypes related to Stargardt Disease:

Drugs & Therapeutics for Stargardt Disease

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

Interventional clinical trials:

Cell-based therapeutics:

Cochrane evidence based reviews: stargardt disease

Genetic Tests for Stargardt Disease

Genetic tests related to Stargardt Disease:

Anatomical Context for Stargardt Disease

Organs/tissues related to Stargardt Disease:

Publications for Stargardt Disease

Articles related to Stargardt Disease:

Genes for Stargardt Disease

Genes related to Stargardt Disease (10 elite genes):

Variations for Stargardt Disease

ClinVar genetic disease variations for Stargardt Disease:

Copy number variations for Stargardt Disease from CNVD:

Expression for Stargardt Disease

Pathways for Stargardt Disease

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

GO Terms for Stargardt Disease

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

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

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

Sources for Stargardt Disease