LCA3
MCID: LBR013
MIFTS: 37

Leber Congenital Amaurosis 3 (LCA3) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Leber Congenital Amaurosis 3

Aliases & Descriptions for Leber Congenital Amaurosis 3:

Name: Leber Congenital Amaurosis 3 54 12 50 66 13 14 69
Leber Congenital Amaurosis Type 3 50 29 69
Lca3 12 50 66
Retinitis Pigmentosa, Juvenile, Autosomal Recessive 54
Amaurosis Congenita of Leber, Type 3 50

Characteristics:

HPO:

32
leber congenital amaurosis 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 604232
Disease Ontology 12 DOID:0110331
ICD10 33 H35.5
MeSH 42 D057130

Summaries for Leber Congenital Amaurosis 3

OMIM : 54 Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and... (604232) more...

MalaCards based summary : Leber Congenital Amaurosis 3, also known as leber congenital amaurosis type 3, is related to leber congenital amaurosis 1 and retinitis pigmentosa, and has symptoms including nystagmus, visual loss and constriction of peripheral visual field. An important gene associated with Leber Congenital Amaurosis 3 is SPATA7 (Spermatogenesis Associated 7). The drugs cysteine and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotype is vision/eye.

Disease Ontology : 12 A Leber congenital amaurosis that has material basis in mutation in the SPATA7 gene on chromosome 14q31.

UniProtKB/Swiss-Prot : 66 Leber congenital amaurosis 3: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Related Diseases for Leber Congenital Amaurosis 3

Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 9 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 12
Leber Congenital Amaurosis 16 Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 11 Leber Congenital Amaurosis 17
Leber Congenital Amaurosis 10 Leber Congenital Amaurosis 6
Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 3
Leber Congenital Amaurosis 4 Leber Congenital Amaurosis 1
Leber Congenital Amaurosis 7 Aipl1-Related Leber Congenital Amaurosis
Cep290-Related Leber Congenital Amaurosis Crb1-Related Leber Congenital Amaurosis
Crx-Related Leber Congenital Amaurosis Gucy2d-Related Leber Congenital Amaurosis
Impdh1-Related Leber Congenital Amaurosis Iqcb1-Related Leber Congenital Amaurosis
Kcnj13-Related Leber Congenital Amaurosis Lca5-Related Leber Congenital Amaurosis
Lrat-Related Leber Congenital Amaurosis Nmnat1-Related Leber Congenital Amaurosis
Rd3-Related Leber Congenital Amaurosis Rdh12-Related Leber Congenital Amaurosis
Rpe65-Related Leber Congenital Amaurosis Rpgrip1-Related Leber Congenital Amaurosis
Spata7-Related Leber Congenital Amaurosis Tulp1-Related Leber Congenital Amaurosis

Diseases related to Leber Congenital Amaurosis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
id Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 1 10.8
2 retinitis pigmentosa 10.8
3 2p13.2 microdeletion syndrome 10.1 LCA5 SPATA7
4 bartholin's duct cyst 10.0 LCA5 SPATA7
5 epilepsy, nocturnal frontal lobe, 5 9.9 LCA5 RPGRIP1
6 adult liposarcoma 9.8 RDH12 RPGRIP1
7 leber congenital amaurosis 9 9.8 LCA5 RDH12 RPGRIP1
8 puerperal pulmonary embolism 9.6 LCA5 RDH12 RPGRIP1 SPATA7
9 liver cirrhosis 9.6 LCA5 RDH12 RPGRIP1 SPATA7
10 sertoli cell-only syndrome 9.5 LCA5 RDH12 RPGRIP1 SPATA7
11 charcot-marie-tooth disease, axonal, type 20 9.3 LCA5 RDH12 RPGRIP1 SPATA7 UGT2A3

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 3:



Diseases related to Leber Congenital Amaurosis 3

Symptoms & Phenotypes for Leber Congenital Amaurosis 3

Clinical features from OMIM:

604232

Human phenotypes related to Leber Congenital Amaurosis 3:

32
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 visual loss 32 HP:0000572
3 constriction of peripheral visual field 32 HP:0001133
4 nyctalopia 32 HP:0000662

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 3:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.92 LCA5 RDH12 RPGRIP1 SPATA7

Drugs & Therapeutics for Leber Congenital Amaurosis 3

Drugs for Leber Congenital Amaurosis 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 cysteine Nutraceutical Phase 1, Phase 2
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 11103-57-4, 68-26-8 445354
3
acetic acid Approved, Nutraceutical Phase 1 64-19-7 176
4
Retinol acetate Phase 1 127-47-9 10245972
5 Adjuvants, Immunologic Phase 1
6 Trace Elements Phase 1
7 Vitamins Phase 1
8 Protective Agents Phase 1
9 Retinol palmitate Phase 1
10 Micronutrients Phase 1
11 Lecithin Nutraceutical Phase 1
12 retinol Nutraceutical Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00999609 Phase 3
2 Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2
3 Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis Completed NCT00643747 Phase 1, Phase 2
4 Study to Evaluate QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Not yet recruiting NCT03140969 Phase 1, Phase 2
5 Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations Unknown status NCT00821340 Phase 1
6 Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1
7 Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA) Recruiting NCT02781480 Phase 1
8 Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations Active, not recruiting NCT00481546 Phase 1
9 Safety Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00516477 Phase 1
10 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. Completed NCT02970266

Search NIH Clinical Center for Leber Congenital Amaurosis 3

Genetic Tests for Leber Congenital Amaurosis 3

Genetic tests related to Leber Congenital Amaurosis 3:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 3 29

Anatomical Context for Leber Congenital Amaurosis 3

MalaCards organs/tissues related to Leber Congenital Amaurosis 3:

39
Retina, Eye

Publications for Leber Congenital Amaurosis 3

Variations for Leber Congenital Amaurosis 3

ClinVar genetic disease variations for Leber Congenital Amaurosis 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SPATA7 NM_018418.4(SPATA7): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80044281 GRCh37 Chromosome 14, 88883138: 88883138
2 SPATA7 NM_018418.4(SPATA7): c.960dupA (p.Pro321Thrfs) duplication Pathogenic rs386834241 GRCh37 Chromosome 14, 88895739: 88895739
3 SPATA7 NM_018418.4(SPATA7): c.1183C> T (p.Arg395Ter) single nucleotide variant Pathogenic rs75895925 GRCh37 Chromosome 14, 88903909: 88903909
4 SPATA7 NM_018418.4(SPATA7): c.1395delA (p.Gln465Hisfs) deletion Pathogenic rs386834243 GRCh37 Chromosome 14, 88904361: 88904361
5 SPATA7 SPATA7, 4-BP DEL, 265CTCA deletion Pathogenic
6 SPATA7 SPATA7, 3-BP DEL, 1227CAC deletion Pathogenic
7 SPATA7 NM_018418.4(SPATA7): c.253C> T (p.Arg85Ter) single nucleotide variant Pathogenic rs140287375 GRCh37 Chromosome 14, 88883069: 88883069
8 SPATA7 NM_018418.4(SPATA7): c.94+2T> C single nucleotide variant Likely pathogenic rs786204787 GRCh37 Chromosome 14, 88857801: 88857801

Expression for Leber Congenital Amaurosis 3

Search GEO for disease gene expression data for Leber Congenital Amaurosis 3.

Pathways for Leber Congenital Amaurosis 3

GO Terms for Leber Congenital Amaurosis 3

Cellular components related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.33 LCA5 RPGRIP1 SPATA7
2 cilium GO:0005929 9.26 LCA5 RPGRIP1
3 axoneme GO:0005930 8.96 RPGRIP1 SPATA7
4 photoreceptor connecting cilium GO:0032391 8.62 RPGRIP1 SPATA7

Biological processes related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.33 RDH12 RPGRIP1 SPATA7
2 photoreceptor cell maintenance GO:0045494 8.96 RDH12 SPATA7
3 visual perception GO:0007601 8.8 RDH12 RPGRIP1 SPATA7

Sources for Leber Congenital Amaurosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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