LCA11
MCID: LBR006
MIFTS: 34

Leber Congenital Amaurosis 11 (LCA11)

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

Aliases & Classifications for Leber Congenital Amaurosis 11

MalaCards integrated aliases for Leber Congenital Amaurosis 11:

Name: Leber Congenital Amaurosis 11 56 12 52 73 29 13 6 15 71
Lca11 56 12 52 73
Amaurosis Congenita of Leber, Type 11 52
Leber Congenital Amaurosis, Type 11 39
Leber Congenital Amaurosis Type 11 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 2 unrelated patients (last curated january 2019)
onset within the first few years of life


HPO:

31
leber congenital amaurosis 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110216
OMIM 56 613837
OMIM Phenotypic Series 56 PS204000
MeSH 43 D057130
ICD10 32 H35.5
MedGen 41 C1840284
UMLS 71 C1840284

Summaries for Leber Congenital Amaurosis 11

OMIM : 56 Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (613837)

MalaCards based summary : Leber Congenital Amaurosis 11, also known as lca11, is related to severe early-childhood-onset retinal dystrophy and pseudoretinitis pigmentosa. An important gene associated with Leber Congenital Amaurosis 11 is IMPDH1 (Inosine Monophosphate Dehydrogenase 1), and among its related pathways/superpathways is Visual Cycle in Retinal Rods. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and visual impairment

Disease Ontology : 12 A Leber congenital amaurosis that has material basis in mutation n the IMPDH1 gene on chromosome 7q31.3-q32.

UniProtKB/Swiss-Prot : 73 Leber congenital amaurosis 11: 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 11

Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 5 Leber Congenital Amaurosis 9
Leber Congenital Amaurosis 12 Leber Congenital Amaurosis 10
Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 6 Leber Congenital Amaurosis 7
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 11
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 16
Leber Congenital Amaurosis 17 Leber Congenital Amaurosis 19

Diseases related to Leber Congenital Amaurosis 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 severe early-childhood-onset retinal dystrophy 10.0 SPATA7 LCA5
2 pseudoretinitis pigmentosa 10.0 IMPDH1 CRB1
3 chorioretinal scar 9.9 RDH12 CRB1
4 retinoschisis 1, x-linked, juvenile 9.7 CRB1 AIPL1
5 fundus albipunctatus 9.7 RDH12 CRB1
6 usher syndrome 9.7 RDH12 LCA5 CRB1
7 cone-rod dystrophy 12 9.5 GUCY2D AIPL1
8 color blindness 9.5 GUCY2D AIPL1
9 cone-rod dystrophy 6 9.4 GUCY2D CRB1
10 cone-rod dystrophy 8 9.3 LCA5 GUCY2D AIPL1
11 choroidal dystrophy, central areolar, 1 9.2 SPATA7 GUCY2D AIPL1
12 leber congenital amaurosis 13 9.2 SPATA7 RDH12 LCA5 AIPL1
13 yemenite deaf-blind hypopigmentation syndrome 9.2 GUCY2D CRB1 AIPL1
14 macular degeneration, age-related, 1 9.1 RDH12 GUCY2D CRB1
15 inherited retinal disorder 9.0 RDH12 LCA5 GUCY2D CRB1
16 leber congenital amaurosis 14 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
17 hereditary retinal dystrophy 9.0 SPATA7 RDH12 GUCY2D CRB1
18 leber congenital amaurosis 15 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
19 leber congenital amaurosis 5 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
20 usher syndrome, type iiia 8.9 RDH12 LCA5 IMPDH1 CRB1 AIPL1
21 pseudopapilledema 8.9 RDH12 GUCY2D CRB1 AIPL1
22 cone-rod dystrophy 2 8.8 GUCY2D CRB1 AIPL1
23 eye disease 8.8 RDH12 GUCY2D CRB1 AIPL1
24 leber congenital amaurosis 16 8.6 SPATA7 LCA5 GUCY2D CRB1 AIPL1
25 retinal disease 8.6 RDH12 IMPDH1 GUCY2D CRB1 AIPL1
26 stargardt disease 8.6 RDH12 LCA5 GUCY2D CRB1 AIPL1
27 congenital stationary night blindness 8.5 RDH12 LCA5 GUCY2D CRB1 AIPL1
28 achromatopsia 8.5 SPATA7 RDH12 GUCY2D CRB1 AIPL1
29 leber congenital amaurosis 12 8.4 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
30 retinal degeneration 8.2 SPATA7 RDH12 IMPDH1 GUCY2D CRB1 AIPL1
31 leber congenital amaurosis 1 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
32 leber congenital amaurosis 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
33 pathologic nystagmus 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
34 leber congenital amaurosis 8 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
35 leber congenital amaurosis 7 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
36 leber congenital amaurosis 6 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
37 leber congenital amaurosis 10 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
38 leber congenital amaurosis 9 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
39 leber congenital amaurosis 4 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
40 leber congenital amaurosis 3 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
41 senior-loken syndrome 1 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
42 leber congenital amaurosis 2 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
43 keratoconus 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
44 fundus dystrophy 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
45 bardet-biedl syndrome 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
46 joubert syndrome 1 7.9 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
47 retinitis pigmentosa 7.9 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 11:



Diseases related to Leber Congenital Amaurosis 11

Symptoms & Phenotypes for Leber Congenital Amaurosis 11

Human phenotypes related to Leber Congenital Amaurosis 11:

31
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 visual impairment 31 HP:0000505
3 reduced visual acuity 31 HP:0007663

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
reduced visual acuity
reduced peripheral vision
reduced night vision
diffuse mottling of retinal pigment epithelium

Clinical features from OMIM:

613837

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 11:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.43 AIPL1 CRB1 GUCY2D LCA5 RDH12 SPATA7
2 vision/eye MP:0005391 9.17 AIPL1 CRB1 GUCY2D IMPDH1 LCA5 RDH12

Drugs & Therapeutics for Leber Congenital Amaurosis 11

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 11

Genetic Tests for Leber Congenital Amaurosis 11

Genetic tests related to Leber Congenital Amaurosis 11:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 11 29 IMPDH1

Anatomical Context for Leber Congenital Amaurosis 11

MalaCards organs/tissues related to Leber Congenital Amaurosis 11:

40
Retina, Eye

Publications for Leber Congenital Amaurosis 11

Articles related to Leber Congenital Amaurosis 11:

# Title Authors PMID Year
1
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. 56 6
16384941 2006
2
Leber Congenital Amaurosis 61 6
20301475 2004
3
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview 6
30285347 2018
4
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 6
23105016 2013
5
Genetics and molecular basis of human peroxisome biogenesis disorders. 6
22871920 2012
6
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 56
20006823 2009
7
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
8
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
9
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6
9398848 1997
10
[Genotype screening of retinal dystrophies in the Japanese population using a microarray]. 61
23424971 2013

Variations for Leber Congenital Amaurosis 11

ClinVar genetic disease variations for Leber Congenital Amaurosis 11:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IMPDH1 NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys)SNV Pathogenic 14838 rs121912554 7:128040174-128040174 7:128400120-128400120
2 IMPDH1 NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr)SNV Conflicting interpretations of pathogenicity 193819 rs72624961 7:128037043-128037043 7:128396989-128396989
3 IMPDH1 NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)SNV Benign 14837 rs121912553 7:128040882-128040882 7:128400828-128400828

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 11:

73
# Symbol AA change Variation ID SNP ID
1 IMPDH1 p.Arg105Trp VAR_065616
2 IMPDH1 p.Asn198Lys VAR_065618

Expression for Leber Congenital Amaurosis 11

Search GEO for disease gene expression data for Leber Congenital Amaurosis 11.

Pathways for Leber Congenital Amaurosis 11

Pathways related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.6 RDH12 GUCY2D

GO Terms for Leber Congenital Amaurosis 11

Cellular components related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axoneme GO:0005930 9.26 SPATA7 LCA5
2 photoreceptor outer segment GO:0001750 9.16 SPATA7 GUCY2D
3 photoreceptor connecting cilium GO:0032391 8.96 SPATA7 LCA5
4 photoreceptor inner segment GO:0001917 8.8 RDH12 CRB1 AIPL1

Biological processes related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.46 SPATA7 RDH12 GUCY2D AIPL1
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 GUCY2D AIPL1
3 visual perception GO:0007601 9.26 SPATA7 RDH12 GUCY2D AIPL1
4 photoreceptor cell maintenance GO:0045494 8.8 SPATA7 RDH12 LCA5

Sources for Leber Congenital Amaurosis 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....