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CRB
MCID: LBR036
MIFTS: 70

Leber Plus Disease (CRB)

Categories: Eye diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leber Plus Disease

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MalaCards integrated aliases for Leber Plus Disease:

Name: Leber Plus Disease 11 58 5 14 36
Leber Congenital Amaurosis 11 19 42 58 28 5 43 14 38 71
Amaurosis Congenita of Leber, Type 1 19 75 71
Amaurosis Congenita of Leber 19 58 75
Leber's Amaurosis 11 19 42
Leber's Disease 11 75 5
Lca 11 19 42
Congenital Absence of the Rods and Cones 19 5
Congenital Amaurosis of Retinal Origin 42 71
Congenital Retinal Blindness 19 42
Lhon Plus Disease 11 58
Crb 19 42
Leber's Congenital Tapetoretinal Degeneration 19
Leber Congenital Tapetoretinal Degeneration 42
Leber's Congenital Tapetoretinal Dysplasia 19
Hereditary Epithelial Dysplasia of Retina 42
Dysgenesis Neuroepithelialis Retinae 42
Leber Congenital Amaurosis Type 1 19
Optic Atrophy, Hereditary, Leber 71
Heredoretinopathia Congenitalis 42
Retinal Blindness, Congenital 19
Leber Congenital Amaurosis 1 19
Leber's Congenital Amaurosis 11
Amaurosis, Leber Congenital 42
Lebers Congenital Amaurosis 53
Hereditary Retinal Aplasia 42
Leber Abiotrophy 42
Lca1 19

Characteristics:


Inheritance:

Leber Plus Disease: Mitochondrial inheritance 58
Leber Congenital Amaurosis: Autosomal dominant,Autosomal recessive 58

Prevelance:

Leber Plus Disease: <1/1000000 (Europe) 58
Leber Congenital Amaurosis: 1-9/100000 (Europe, United States, Worldwide) 58

Age Of Onset:

Leber Plus Disease: Adolescent,Adult,Childhood,Infancy 58
Leber Congenital Amaurosis: Infancy,Neonatal 58

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:0111754 DOID:14791
MeSH 43 D057130
NCIt 49 C129075
SNOMED-CT 68 193413001
MESH via Orphanet 44 D057130
ICD10 via Orphanet 32 H35.5 H47.2
UMLS via Orphanet 72 C0339527
Orphanet 58 ORPHA65 ORPHA99718
UMLS 71 C0339527 C0917796 C2931258 more
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Summaries for Leber Plus Disease

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MedlinePlus Genetics: 42 Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.A specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.In very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.At least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.

MalaCards based summary: Leber Plus Disease, also known as leber congenital amaurosis, is related to leber congenital amaurosis 16 and leber congenital amaurosis 12, and has symptoms including ataxia, photophobia and static tremor. An important gene associated with Leber Plus Disease is RPE65 (Retinoid Isomerohydrolase RPE65), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. The drugs Curcumin and Bezafibrate have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are abnormality of retinal pigmentation and severely reduced visual acuity

GARD: 19 Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. The pupils also do not react normally to light. Additionally, the cornea may be cone-shaped and abnormally thin (keratoconus). Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. Different subtypes have been described. The different subtypes are caused by genetic changes in different genes. Some of these subtypes are also distinguished by their patterns of vision loss and related eye abnormalities.

Orphanet 58 Leber plus disease: A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias.

Leber congenital amaurosis: Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

Disease Ontology 11 Leber plus disease: A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities.

Leber congenital amaurosis: A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

Wikipedia 75 Amaurosis congenita of leber: Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first... more...

Leber's disease: Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited (transmitted from mother to... more...
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Related Diseases for Leber Plus Disease

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

(show top 50) (show all 403)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 16 34.3 TULP1 SPATA7 RPE65 RDH12 LCA5 KCNJ13
2 leber congenital amaurosis 12 34.3 SPATA7 RPE65 LCA5 KCNJ13 IQCB1 GUCY2D
3 leber congenital amaurosis 1 34.1 TULP1 RPGRIP1 RPE65 LCA5 GUCY2D CRX
4 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis 33.7 NMNAT1 LCA5 ALMS1
5 senior-loken syndrome 1 33.6 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
6 leber congenital amaurosis 10 33.2 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
7 leber congenital amaurosis 2 33.2 TULP1 SPATA7 RPE65 RDH12 LCA5 GUCY2D
8 leber congenital amaurosis 4 33.1 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
9 leber congenital amaurosis 3 33.1 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
10 leber congenital amaurosis 8 33.0 TULP1 SPATA7 RPE65 RDH12 LCA5 GUCY2D
11 leber congenital amaurosis 9 33.0 TULP1 SPATA7 RPE65 RDH12 NMNAT1 LCA5
12 leber congenital amaurosis 6 32.9 TULP1 SPATA7 RPGRIP1 RDH12 LCA5 GUCY2D
13 leber congenital amaurosis 11 32.8 TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
14 leber congenital amaurosis 15 32.8 TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
15 leber congenital amaurosis 14 32.8 TULP1 SPATA7 RPE65 RDH12 LCA5 KCNJ13
16 leber congenital amaurosis 7 32.8 SPATA7 RDH12 LCA5 GUCY2D CRX CRB1
17 leber optic atrophy and dystonia 32.5 MT-ND6 MT-ND4
18 eye disease 32.5 TULP1 RPGRIP1 RPE65 RDH12 MT-ND4 IQCB1
19 keratoconus 32.5 TULP1 SPATA7 RPE65 RDH12 LCA5 IQCB1
20 stargardt disease 32.4 TULP1 SPATA7 RPE65 RDH12 IQCB1 GUCY2D
21 fundus dystrophy 32.3 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 PCYT1A
22 retinitis pigmentosa 32.2 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 NMNAT1
23 severe early-childhood-onset retinal dystrophy 32.2 SPATA7 RPE65 LCA5 ABCA4
24 bardet-biedl syndrome 32.1 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
25 usher syndrome 32.1 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
26 late-onset retinal degeneration 32.1 TULP1 RPE65 GUCY2D CRX CRB1 CEP290
27 retinal degeneration 32.1 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 NMNAT1
28 cone-rod dystrophy 2 32.1 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 PCYT1A
29 achromatopsia 31.9 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 NMNAT1
30 cone-rod dystrophy 13 31.9 SPATA7 RPGRIP1 IQCB1
31 hereditary retinal dystrophy 31.9 SPATA7 RPE65 GUCY2D CRB1 CEP290 ABCA4
32 macular degeneration, age-related, 1 31.9 RPE65 RDH12 GUCY2D CRX CRB1 CEP290
33 stargardt disease 1 31.8 TULP1 RDH12 CRX CRB1 ALMS1 ABCA4
34 refractive error 31.7 RPE65 GUCY2D CRB1 CEP290 ABCA4
35 cone dystrophy 31.6 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 NMNAT1
36 pseudopapilledema 31.5 RPE65 RDH12 MT-ND6 GUCY2D CRX CRB1
37 retinal disease 31.5 RPE65 GUCY2D CRX CRB1 CEP290 ABCA4
38 retinoschisis 1, x-linked, juvenile 31.4 RPE65 GUCY2D CRX CRB1 CEP290 AIPL1
39 usher syndrome, type iia 31.4 CRB1 CEP290 AIPL1 ABCA4
40 joubert syndrome 1 31.4 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
41 enhanced s-cone syndrome 31.4 RPE65 GUCY2D CRX CRB1 AIPL1 ABCA4
42 congenital stationary night blindness 31.4 TULP1 RPE65 RDH12 NMNAT1 LCA5 IQCB1
43 cone-rod dystrophy 3 31.4 GUCY2D CRX ABCA4
44 enophthalmos 31.4 GUCY2D CRB1 CEP290
45 exudative vitreoretinopathy 31.3 CRB1 CEP290 ABCA4
46 optic nerve disease 31.3 RPE65 MT-ND6 MT-ND4 MT-ATP6
47 coloboma of macula 31.2 RPE65 RDH12 NMNAT1 LCA5 IQCB1 GUCY2D
48 choroideremia 31.2 RPE65 GUCY2D CEP290 ABCA4
49 peripheral retinal degeneration 31.2 RPE65 ABCA4
50 leber congenital amaurosis 13 31.2 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5

Graphical network of the top 20 diseases related to Leber Plus Disease:



Diseases related to Leber Plus Disease
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Symptoms & Phenotypes for Leber Plus Disease

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Human phenotypes related to Leber Plus Disease:

58 30 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0007703
2 severely reduced visual acuity 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001141
3 abnormal optic disc morphology 30 Hallmark (90%) HP:0012795
4 seizure 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001250
5 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000639
6 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001252
7 cataract 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000518
8 abnormal electroretinogram 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000512
9 hemiplegia/hemiparesis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004374
10 abnormality of neuronal migration 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002269
11 keratoconus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000563
12 encephalocele 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002084
13 aplasia/hypoplasia of the cerebellar vermis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006817
14 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001249
15 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000365
16 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001263
17 abnormality of the optic disc 58 Very frequent (99-80%)

UMLS symptoms related to Leber Plus Disease:


ataxia; photophobia; static tremor

GenomeRNAi Phenotypes related to Leber Plus Disease according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 ABCA4 AIPL1 ALMS1 CEP290 CRB1 CRX
2 no effect GR00402-S-2 10.14 ABCA4 AIPL1 ALMS1 CEP290 CRB1 CRX

MGI Mouse Phenotypes related to Leber Plus Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 ABCA4 AIPL1 ALMS1 CEP290 CRB1 CRX
2 pigmentation MP:0001186 9.91 ABCA4 ALMS1 CEP290 CRB1 CRX LCA5
3 cardiovascular system MP:0005385 9.65 ABCA4 CEP290 CRB1 CRX IQCB1 KCNJ13
4 vision/eye MP:0005391 9.53 ABCA4 AIPL1 ALMS1 CEP290 CRB1 CRX
Sources

Drugs & Therapeutics for Leber Plus Disease

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

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Curcumin Approved, Investigational Phase 3 458-37-7, 84765-67-3 969516
2
Bezafibrate Approved, Investigational Phase 2, Phase 3 41859-67-0 39042
3
Cysteine Approved, Nutraceutical Phase 2, Phase 3 52-90-4 594 5862
4 Anti-Inflammatory Agents Phase 3
5 Antirheumatic Agents Phase 3
6 Anti-Inflammatory Agents, Non-Steroidal Phase 3
7 Analgesics, Non-Narcotic Phase 3
8 Analgesics Phase 3
9 Anti-Infective Agents, Local Phase 3
10 Antimetabolites Phase 2, Phase 3
11 Hypolipidemic Agents Phase 2, Phase 3
12 Lipid Regulating Agents Phase 2, Phase 3
13 Pharmaceutical Solutions Phase 3
14 Anesthetics Phase 3
15
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
16
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
17
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
18
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
19
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 4894 5755
20
Polymyxin B Approved, Vet_approved Phase 1, Phase 2 1405-20-5, 1404-26-8 4868
21
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
22
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5 1875
23
Levoleucovorin Approved, Experimental, Investigational Phase 1, Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
24
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 4159 6741
25
Trimethoprim Approved, Vet_approved Phase 1, Phase 2 738-70-5 5578
26
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
27
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7 4897
28 Immunologic Factors Phase 2
29 Calcineurin Inhibitors Phase 2
30 Cyclosporins Phase 2
31 Antifungal Agents Phase 2
32 Immunosuppressive Agents Phase 2
33 Dermatologic Agents Phase 2
34 Ophthalmic Solutions Phase 2
35 Folic Acid Antagonists Phase 1, Phase 2
36 Folate Phase 1, Phase 2
37 Anti-Bacterial Agents Phase 1, Phase 2
38 Antineoplastic Agents, Hormonal Phase 1, Phase 2
39 Vitamin B9 Phase 1, Phase 2
40 Anti-Infective Agents Phase 1, Phase 2
41 Antiprotozoal Agents Phase 1, Phase 2
42 Hormones Phase 1, Phase 2
43 Antiparasitic Agents Phase 1, Phase 2
44 Vitamin B Complex Phase 1, Phase 2
45 Hormone Antagonists Phase 1, Phase 2
46 Antimalarials Phase 1, Phase 2
47 Polymyxins Phase 1, Phase 2
48 glucocorticoids Phase 1, Phase 2
49
Methylprednisolone Acetate Phase 1, Phase 2 584547
50 Cytochrome P-450 Enzyme Inhibitors Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 57)
# Name Status NCT ID Phase Drugs
1 External Natural History Controlled, Open-Label Intervention Study to Assess the Efficacy and Safety of Long-Term Treatment With Raxone® in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02774005 Phase 4 Idebenone
2 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3 curcumin
3 A Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for 6 Months or Less by LHON Due to the G11778A Mutation in the Mitochondrial ND4 Gene Completed NCT02652767 Phase 3
4 Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for More Than 6 Months and To 12 Months by LHON Due to the G11778A Mutation in the ND4 Gene Completed NCT02652780 Phase 3
5 Long-term Follow-up of ND4 LHON Subjects Treated With GS010 Ocular Gene Therapy in the RESCUE or REVERSE Phase III Clinical Trials (RESTORE) Completed NCT03406104 Phase 3
6 An Open-Label, Dose Escalation and Double-Masked, Randomized, Controlled Study to Evaluate the Safety and Tolerability of Sepofarsen in Pediatric Subjects <8 Years of Age With Leber Congenital Amaurosis Type 10 (LCA10) Due to the c.2991 +1655A>G (p.Cys998X) Mutation. Recruiting NCT04855045 Phase 2, Phase 3 sepofarsen
7 Study of Efficacy of Befizal® 200 mg for the Treatment of Leber Hereditary Optic Neuropathy Recruiting NCT04561466 Phase 2, Phase 3 Béfizal
8 A Phase 1/2/3, Multi-center, Two-part Clinical Trial to Evaluate the Safety and Efficacy of Gene Therapy for Leber's Hereditary Optic Neuropathy (LHON) Associated With ND4 Mutation Recruiting NCT04912843 Phase 2, Phase 3 NR082 injection
9 Double-masked, Randomized, Controlled, Multiple-dose Study to Evaluate Efficacy, Safety, Tolerability and Syst. Exposure of QR-110 in Leber's Congenital Amaurosis (LCA) Due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Active, not recruiting NCT03913143 Phase 2, Phase 3 sepofarsen
10 A Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 to the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-301] Active, not recruiting NCT00999609 Phase 3
11 Efficacy and Safety of Bilateral Intravitreal Injection of GS010: A Randomized, Double-Masked, Placebo-Controlled Trial in Subjects Affected With G11778A ND4 Leber Hereditary Optic Neuropathy for Up to One Year Active, not recruiting NCT03293524 Phase 3 Placebo
12 A Single Intravitreal Injection of rAAV2-ND4 for the Treatment of Leber's Hereditary Optic Neuropathy Active, not recruiting NCT03153293 Phase 2, Phase 3 rAAV2-ND4
13 Study With Idebenone in Patients With Chronic Vision Loss Due to Leber's Hereditary Optic Neuropathy (LHON) Withdrawn NCT01495715 Phase 3 Idebenone;Placebo
14 Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy Unknown status NCT02176733 Phase 2 cyclosporine
15 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing RPE65 (rAAV2-CB-hRPE65) in Patients With Leber Congenital Amaurosis Type 2 Completed NCT00749957 Phase 1, Phase 2
16 An Open-label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno Associated Virus Vector for Gene Therapy of Adults And Children With Retinal Dystrophy Associated With Defects in RPE65 (LCA) Completed NCT02781480 Phase 1, Phase 2
17 Prospective Monocentric Open Label Non Randomized Uncontrolled Phase I/II Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2 rAAV2/4.hRPE65
18 An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (AAV2/2-hRPE65p-hRPE65) for Gene Therapy of Severe Early-onset Retinal Degeneration Completed NCT00643747 Phase 1, Phase 2
19 An Open-label, Multiple Dose, Dose Escalation Study to Evaluate the Safety and Tolerability of QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Completed NCT03140969 Phase 1, Phase 2 QR-110
20 An Open Label Dose Escalation Clinical Trial to Evaluate the Safety and the Tolerability of GS010 (rAAV2/2-ND4) in Patients With Leber Hereditary Optic Neuropathy Due to Mutations in the Mitochondrial NADH Dehydrogenase 4 Gene Completed NCT02064569 Phase 1, Phase 2
21 A Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Patients With Leber's Hereditary Optic Neuropathy Completed NCT00747487 Phase 2 Idebenone;Placebo
22 A Prospective, Randomized, Double-Masked, Vehicle Controlled, Phase 2 Clinical Study to Evaluate the Safety, Tolerability and Efficacy of Elamipretide Topical Ophthalmic Solution in Subjects With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02693119 Phase 2 elamipretide (MTP-131) 1% topical ophthalmic solution;Vehicle topical ophthalmic solution
23 Phase 1/2 Study to Assess the Safety and Efficacy of Ocu400 for Retinitis Pigmentosa Associated With Nr2e3 and Rho Mutations and Leber Congenital Amaurosis With Mutation(S) in Cep290 Gene Recruiting NCT05203939 Phase 1, Phase 2 OCU400 Low Dose;OCU400 Mid Dose;OCU400 High Dose
24 An Open-Label, Extension Study to Evaluate the Safety, Tolerability, Efficacy and Pharmacokinetics of QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Active, not recruiting NCT03913130 Phase 1, Phase 2 QR-110
25 Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of EDIT-101 in Adult and Pediatric Participants With Leber Congenital Amaurosis Type 10 (LCA10), With Centrosomal Protein 290 (CEP290)-Related Retinal Degeneration Caused by a Compound Heterozygous or Homozygous Mutation Involving c.2991+1655A>G in Intron 26 (IVS26) of the CEP290 Gene ("LCA10-IVS26") Active, not recruiting NCT03872479 Phase 1, Phase 2 EDIT-101
26 A Phase 1/2 Dose Escalation Study of Subretinally Injected SAR439483 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D Active, not recruiting NCT03920007 Phase 1, Phase 2 SAR439483;SAR439483 Diluent Solution;Prednisone;Triamcinalone Acetonide;1% Prednisolone;Trimethoprim/polymyxin B
27 A Follow-On Study to Evaluate the Safety of Re-Administration of Adeno-Associated Viral Vector Containing the Gene for Human RPE65 [AAV2-hRPE65v2] to the Contralateral Eye in Subjects With Leber Congenital Amaurosis (LCA) Previously Enrolled in a Phase 1 Study Active, not recruiting NCT01208389 Phase 1, Phase 2
28 Near-infrared Light-emitting Diode (NIR-LED) Therapy for Leber's Hereditary Optic Neuropathy (LHON) Terminated NCT01389817 Phase 1, Phase 2
29 A Phase 1 Safety Study in Subjects With Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 Into the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-101] Completed NCT00516477 Phase 1
30 Phase 1b Study to Evaluate QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Completed NCT01014052 Phase 1 QLT091001
31 An Open-Label Study to Evaluate the Effects of Repeated Treatments of Oral QLT091001 on Safety and Vision Outcome in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin: Retinol Acyltransferase (LRAT) (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1 QLT091001
32 Phase I Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-hRPE65) Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations Completed NCT00821340 Phase 1
33 Phase I Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-CBSB-hRPE65) Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations (Clinical Trials of Gene Therapy for Leber Congenital Amaurosis) Active, not recruiting NCT00481546 Phase 1
34 An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (scAAV2-P1ND4v2) for Gene Therapy of Leber's Hereditary Optic Neuropathy (LHON) Caused by the G11778A Mutation in Mitochondrial DNA Active, not recruiting NCT02161380 Phase 1 injection of scAAV2-P1ND4v2 1.18x10e9 vg (Low),;injection of scAAV2-P1ND4v2 5.81 X10e9 vg (Med);injection of scAAV2-P1ND4v2 2.4 X10e10vg (High);injection of scAAV2-P1ND4v2 1.0 X10e11vg (Higher)
35 Treatment of Retinitis Pigmentosa and Leber Congenital Amaurosis by Primary Retinal Pigment Epithelial Cells Transplantation Unknown status NCT03566147 Early Phase 1
36 Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene Unknown status NCT04525261
37 Efficacy Study of Gene Therapy for The Treatment of Acute LHON Onset Within Three Months Unknown status NCT03428178 rAAV2-ND4
38 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families: Establishment of Genotype-phenotype Correlations and Updating the Clinical Definition of This Retinal Dystrophy Completed NCT02970266
39 Retrospective, Uncontrolled, Multicenter, Case History Study to Determine the Natural History of Visual Function in Subjects With Inherited Retinal Disease (IRD) Caused by Inherited Mutation of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Completed NCT02575430
40 Natural History Study of CEP290-Related Retinal Degeneration Completed NCT03396042
41 Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients Completed NCT03295071
42 Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey Completed NCT01892943
43 Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02796274
44 A Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber's Hereditary Optic Neuropathy (LHON) Completed NCT02771379 Idebenone
45 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
46 Safety and Efficacy Study of a Single Intravitreal Injection of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy Completed NCT01267422 rAAV2-ND4
47 A Single Visit, Observational, Follow-up Study of Patients With Leber's Hereditary Optic Neuropathy Following Participation in SNT-II-003 Trial Completed NCT01421381
48 Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65 Recruiting NCT02714816
49 Foundation Fighting Blindness My Retina Tracker Registry Recruiting NCT02435940
50 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Leber Plus Disease

Cochrane evidence based reviews: leber congenital amaurosis

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Genetic Tests for Leber Plus Disease

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Genetic tests related to Leber Plus Disease:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 28
Sources

Anatomical Context for Leber Plus Disease

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Organs/tissues related to Leber Plus Disease:

MalaCards : Eye, Retina, Spinal Cord, Bone Marrow, Bone, Lung, Pineal
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Leber Plus 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
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Publications for Leber Plus Disease

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Articles related to Leber Plus Disease:

(show top 50) (show all 1636)
# Title Authors PMID Year
1
Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations. 53 62 5
20050595 2010
2
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. 53 62 5
19117922 2009
3
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 53 62 5
15322982 2004
4
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. 53 62 5
12325031 2002
5
Spectrum of retGC1 mutations in Leber's congenital amaurosis. 53 62 5
10951519 2000
6
Mutation analysis of 3 genes in patients with Leber congenital amaurosis. 53 62 5
10766140 2000
7
Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. 53 62 5
9888789 1999
8
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. 53 62 5
9618177 1998
9
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. 53 62 5
9501220 1998
10
Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation. 62 5
34048777 2021
11
Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration. 62 5
33067476 2020
12
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. 62 5
32865313 2020
13
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 62 5
31630094 2020
14
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies. 62 5
31704230 2020
15
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis. 62 5
32165824 2020
16
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration. 62 5
30979730 2019
17
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. 62 5
30134391 2019
18
Spectrum, frequency, and genotype-phenotype of mutations in SPATA7. 62 5
31908400 2019
19
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. 62 5
29559409 2018
20
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. 62 5
29061346 2018
21
Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis. 62 5
29033008 2018
22
Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis. 62 5
30319355 2018
23
Peripapillary sparing in RDH12-associated Leber congenital amaurosis. 62 5
28513254 2017
24
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 62 5
29186038 2017
25
The genetic profile of Leber congenital amaurosis in an Australian cohort. 62 5
29178642 2017
26
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients. 62 5
28456785 2017
27
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. 62 5
28966547 2017
28
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. 62 5
27422788 2016
29
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 62 5
26626312 2016
30
Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy. 62 5
26957854 2016
31
Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial. 62 5
26364624 2015
32
Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast. 62 5
26253563 2015
33
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. 62 5
26018082 2015
34
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 62 5
26047050 2015
35
Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1. 62 5
25477517 2015
36
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. 62 5
24830548 2014
37
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 62 5
24474277 2014
38
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. 62 5
23946133 2013
39
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 62 5
23847139 2013
40
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. 62 5
23035049 2013
41
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 62 5
22842229 2012
42
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 62 5
22842230 2012
43
NMNAT1 mutations cause Leber congenital amaurosis. 62 5
22842227 2012
44
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 62 5
22842231 2012
45
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy. 62 5
21474771 2011
46
Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations. 62 5
21310915 2011
47
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 62 5
21153841 2011
48
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. 62 5
21220633 2011
49
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. 62 5
21602930 2011
50
Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. 62 5
20702822 2011
Sources

Variations for Leber Plus Disease

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ClinVar genetic disease variations for Leber Plus Disease:

5 (show top 50) (show all 1839)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GUCY2D NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) SNV Pathogenic
 9350 rs61749755 GRCh37: 17:7912849-7912849
GRCh38: 17:8009531-8009531
2 GUCY2D NM_000180.4(GUCY2D):c.622del (p.Arg208fs) DEL Pathogenic
 98607 rs61749671 GRCh37: 17:7906985-7906985
GRCh38: 17:8003667-8003667
3 GUCY2D NM_000180.4(GUCY2D):c.2377del (p.Glu793fs) DEL Pathogenic
 471236 rs1555635668 GRCh37: 17:7917310-7917310
GRCh38: 17:8013992-8013992
4 GUCY2D NM_000180.4(GUCY2D):c.2114-27_2263+18del DEL Pathogenic
 430835 rs1555635550 GRCh37: 17:7916391-7916585
GRCh38: 17:8013073-8013267
5 RPGRIP1 NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) SNV Pathogenic
 95949 rs398124354 GRCh37: 14:21795846-21795846
GRCh38: 14:21327687-21327687
6 GUCY2D NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) SNV Pathogenic
 689384 rs1290420698 GRCh37: 17:7911315-7911315
GRCh38: 17:8007997-8007997
7 CRB1 NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) SNV Pathogenic
 635155 rs150412614 GRCh37: 1:197396685-197396685
GRCh38: 1:197427555-197427555
8 CRB1 NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs) DEL Pathogenic
 812301 rs1571544281 GRCh37: 1:197398580-197398584
GRCh38: 1:197429450-197429454
9 CRB1 NM_201253.3(CRB1):c.4005+1G>A SNV Pathogenic
 812303 rs890453675 GRCh37: 1:197411423-197411423
GRCh38: 1:197442293-197442293
10 GUCY2D NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln) SNV Pathogenic
 812326 rs1598149187 GRCh37: 17:7915803-7915803
GRCh38: 17:8012485-8012485
11 CFAP410 NM_004928.3(CFAP410):c.643-2A>G SNV Pathogenic
 812235 rs1602071524 GRCh37: 21:45750211-45750211
GRCh38: 21:44330328-44330328
12 CRB1 NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) SNV Pathogenic
 99866 rs62645754 GRCh37: 1:197326120-197326120
GRCh38: 1:197356990-197356990
13 LCA5 NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter) SNV Pathogenic
 812346 rs765473119 GRCh37: 6:80198861-80198861
GRCh38: 6:79489144-79489144
14 GUCY2D NM_000180.4(GUCY2D):c.2577-2A>C SNV Pathogenic
 974645 rs1975931968 GRCh37: 17:7918175-7918175
GRCh38: 17:8014857-8014857
15 GUCY2D NM_000180.4(GUCY2D):c.2770-2A>G SNV Pathogenic
 974647 rs1975943416 GRCh37: 17:7918644-7918644
GRCh38: 17:8015326-8015326
16 GUCY2D NM_000180.4(GUCY2D):c.2997del (p.Phe999fs) DEL Pathogenic
 974653 rs1975957618 GRCh37: 17:7919111-7919111
GRCh38: 17:8015793-8015793
17 GUCY2D NM_000180.4(GUCY2D):c.1566+2T>C SNV Pathogenic
 98544 rs61749683 GRCh37: 17:7910848-7910848
GRCh38: 17:8007530-8007530
18 GUCY2D NM_000180.4(GUCY2D):c.1957-1G>T SNV Pathogenic
 98552 rs61749759 GRCh37: 17:7915767-7915767
GRCh38: 17:8012449-8012449
19 GUCY2D NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter) SNV Pathogenic
 974658 rs1403798841 GRCh37: 17:7906908-7906908
GRCh38: 17:8003590-8003590
20 GUCY2D NM_000180.4(GUCY2D):c.1530del (p.Thr511fs) DEL Pathogenic
 974659 rs1975768901 GRCh37: 17:7910810-7910810
GRCh38: 17:8007492-8007492
21 GUCY2D NM_000180.4(GUCY2D):c.2413-1G>C SNV Pathogenic
 974660 rs1975923246 GRCh37: 17:7917918-7917918
GRCh38: 17:8014600-8014600
22 GUCY2D NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs) DEL Pathogenic
 98589 rs281865411 GRCh37: 17:7919279-7919280
GRCh38: 17:8015961-8015962
23 GUCY2D NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter) SNV Pathogenic
 98594 rs61750194 GRCh37: 17:7919319-7919319
GRCh38: 17:8016001-8016001
24 GUCY2D NM_000180.4(GUCY2D):c.2263+2T>C SNV Pathogenic
 974661 rs1975893449 GRCh37: 17:7916572-7916572
GRCh38: 17:8013254-8013254
25 GUCY2D NM_000180.4(GUCY2D):c.91dup (p.Arg31fs) DUP Pathogenic
 98609 rs61749663 GRCh37: 17:7906451-7906452
GRCh38: 17:8003133-8003134
26 GUCY2D NM_000180.4(GUCY2D):c.1378+1G>A SNV Pathogenic
 974668 rs1975751307 GRCh37: 17:7910033-7910033
GRCh38: 17:8006715-8006715
27 GUCY2D NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter) SNV Pathogenic
 974643 rs1341592819 GRCh37: 17:7918027-7918027
GRCh38: 17:8014709-8014709
28 GUCY2D NM_000180.4(GUCY2D):c.562_565dup (p.Ala189fs) DUP Pathogenic
 974663 rs1975678842 GRCh37: 17:7906926-7906927
GRCh38: 17:8003608-8003609
29 GUCY2D NM_000180.4(GUCY2D):c.2177_2206del (p.Ala726_Met736delinsVal) DEL Pathogenic
 974640 rs1975890613 GRCh37: 17:7916484-7916513
GRCh38: 17:8013166-8013195
30 GUCY2D NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs) DEL Pathogenic
 98549 rs63749078 GRCh37: 17:7915518-7915542
GRCh38: 17:8012200-8012224
31 GUCY2D NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter) SNV Pathogenic
 974635 rs755999834 GRCh37: 17:7907445-7907445
GRCh38: 17:8004127-8004127
32 GUCY2D NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs) DEL Pathogenic
 98562 rs281865410 GRCh37: 17:7906591-7906604
GRCh38: 17:8003273-8003286
33 GUCY2D NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs) INSERT Pathogenic
 974631 rs1975665345 GRCh37: 17:7906540-7906541
GRCh38: 17:8003222-8003223
34 NMNAT1 NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr) SNV Pathogenic
 813197 rs1641970512 GRCh37: 1:10042548-10042548
GRCh38: 1:9982490-9982490
35 CRB1 NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro) SNV Pathogenic
 813170 rs114630940 GRCh37: 1:197398711-197398711
GRCh38: 1:197429581-197429581
36 CRB1 NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter) SNV Pathogenic
 813169 rs772794324 GRCh37: 1:197396588-197396588
GRCh38: 1:197427458-197427458
37 AIPL1 NM_014336.5(AIPL1):c.34dup (p.Val12fs) DUP Pathogenic
 813151 rs752193525 GRCh37: 17:6338390-6338391
GRCh38: 17:6435070-6435071
38 TULP1 NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter) INSERT Pathogenic
 812443 rs1581743256 GRCh37: 6:35477676-35477677
GRCh38: 6:35509899-35509900
39 TULP1 NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs) INSERT Pathogenic
 812442 rs1581742633 GRCh37: 6:35477026-35477027
GRCh38: 6:35509249-35509250
40 TULP1 NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs) INSERT Pathogenic
 812441 rs1581740762 GRCh37: 6:35473946-35473947
GRCh38: 6:35506169-35506170
41 TULP1 NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter) SNV Pathogenic
 812438 rs1581736099 GRCh37: 6:35467904-35467904
GRCh38: 6:35500127-35500127
42 TULP1 NM_003322.6(TULP1):c.1495+2dup DUP Pathogenic
 812437 rs1581735836 GRCh37: 6:35467755-35467756
GRCh38: 6:35499978-35499979
43 GUCY2D NM_000180.4(GUCY2D):c.2770-1G>C SNV Pathogenic
 974629 rs1975943461 GRCh37: 17:7918645-7918645
GRCh38: 17:8015327-8015327
44 GUCY2D NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile) SNV Pathogenic
 98603 rs281865409 GRCh37: 17:7906368-7906368
GRCh38: 17:8003050-8003050
45 GUCY2D NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys) SNV Pathogenic
 98585 rs281865408 GRCh37: 17:7906367-7906367
GRCh38: 17:8003049-8003049
46 LCA5 NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr) SNV Pathogenic
 802243 rs1178243254 GRCh37: 6:80202268-80202268
GRCh38: 6:79492551-79492551
47 TULP1 NM_003322.6(TULP1):c.1388del (p.Asn463fs) DEL Pathogenic
 802208 rs1581736024 GRCh37: 6:35467865-35467865
GRCh38: 6:35500088-35500088
48 TULP1 NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter) SNV Pathogenic
 802207 rs773968778 GRCh37: 6:35466173-35466173
GRCh38: 6:35498396-35498396
49 GUCY2D NM_000180.4(GUCY2D):c.501del (p.Ala168fs) DEL Pathogenic
 974632 rs1975675766 GRCh37: 17:7906862-7906862
GRCh38: 17:8003544-8003544
50 CRB1 NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer) MICROSAT Pathogenic
 801600 rs1571557864 GRCh37: 1:197404453-197404454
GRCh38: 1:197435323-197435324
Sources

Expression for Leber Plus Disease

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Search GEO for disease gene expression data for Leber Plus Disease.
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Pathways for Leber Plus Disease

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Pathways related to Leber Plus Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Visual phototransduction 66
Show member pathways
 12.27 RPE65 RDH12 GUCY2D ABCA4
2
Ciliary landscape 74
11.88 SPATA7 LCA5 IQCB1 CEP290
3
Bardet-Biedl syndrome 74
Show member pathways
 11.59 LCA5 IQCB1 CRX CEP290
4
Visual Cycle in Retinal Rods 64
11.52 RPE65 RDH12 GUCY2D
5
Diseases of the neuronal system 66
Show member pathways
 11.34 RPE65 RDH12 ABCA4
6
Ciliopathies 74
11.27 TULP1 SPATA7 RPGRIP1 LCA5 IQCB1 CRX
7
Retinol metabolism (WikiPathways) 74
10.66 RPE65 RDH12
8
Visual signal transduction: Cones 61
10.49 RPE65 RDH12 GUCY2D
Sources

GO Terms for Leber Plus Disease

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Cellular components related to Leber Plus Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 10.02 TULP1 RPGRIP1 LCA5 IQCB1 CEP290 ALMS1
2 photoreceptor inner segment GO:0001917 9.86 TULP1 RDH12 CRB1 AIPL1
3 cell projection GO:0042995 9.85 ABCA4 ALMS1 CEP290 CRB1 GUCY2D LCA5
4 photoreceptor distal connecting cilium GO:0120206 9.67 SPATA7 RPGRIP1
5 photoreceptor connecting cilium GO:0032391 9.65 SPATA7 RPGRIP1 LCA5 IQCB1 CEP290
6 photoreceptor outer segment GO:0001750 9.36 TULP1 SPATA7 IQCB1 GUCY2D CRB1 ABCA4

Biological processes related to Leber Plus Disease according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.99 MT-ND6 MT-ND4 MT-ATP6
2 response to stimulus GO:0050896 9.93 TULP1 SPATA7 RPGRIP1 RPE65 RDH12 GUCY2D
3 retina homeostasis GO:0001895 9.91 TULP1 RPE65 AIPL1
4 retinoid metabolic process GO:0001523 9.88 RPE65 RDH12 ABCA4
5 detection of light stimulus involved in visual perception GO:0050908 9.85 RPE65 CRB1 TULP1
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.8 GUCY2D AIPL1
7 eye photoreceptor cell development GO:0042462 9.8 TULP1 RPGRIP1 CRB1 CEP290
8 photoreceptor cell maintenance GO:0045494 9.8 ABCA4 CRB1 IQCB1 LCA5 RDH12 SPATA7
9 phototransduction, visible light GO:0007603 9.78 AIPL1 ABCA4
10 protein localization to photoreceptor outer segment GO:1903546 9.76 TULP1 SPATA7
11 retina development in camera-type eye GO:0060041 9.72 TULP1 RPGRIP1 RPE65 CRB1
12 retina morphogenesis in camera-type eye GO:0060042 9.7 RPE65 CRB1
13 visual perception GO:0007601 9.6 RPGRIP1 RPE65 RDH12 GUCY2D CRX CRB1
Sources

Sources for Leber Plus Disease

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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