LCA11
MCID: LBR006
MIFTS: 23

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 57 12 53 74 29 13 6 72
Lca11 57 12 53 74
Amaurosis Congenita of Leber, Type 11 53
Leber Congenital Amaurosis, Type 11 40
Leber Congenital Amaurosis Type 11 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
leber congenital amaurosis 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110216
MeSH 44 D057130
ICD10 33 H35.5
MedGen 42 C1840284
UMLS 72 C1840284

Summaries for Leber Congenital Amaurosis 11

OMIM : 57 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, is also known as lca11. An important gene associated with Leber Congenital Amaurosis 11 is IMPDH1 (Inosine Monophosphate Dehydrogenase 1). 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 : 74 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

Symptoms & Phenotypes for Leber Congenital Amaurosis 11

Human phenotypes related to Leber Congenital Amaurosis 11:

32
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 visual impairment 32 HP:0000505
3 reduced visual acuity 32 HP:0007663

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
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. 8 71
16384941 2006
2
Leber Congenital Amaurosis 38 71
20301475 2004
3
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview 71
30285347 2018
4
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 71
23105016 2013
5
Genetics and molecular basis of human peroxisome biogenesis disorders. 71
22871920 2012
6
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 8
20006823 2009
7
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 71
10384394 1999
8
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 71
9398847 1997
9
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 71
9398848 1997
10
[Genotype screening of retinal dystrophies in the Japanese population using a microarray]. 38
23424971 2013

Variations for Leber Congenital Amaurosis 11

ClinVar genetic disease variations for Leber Congenital Amaurosis 11:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IMPDH1 NM_000883.4(IMPDH1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs121912553 7:128040882-128040882 7:128400828-128400828
2 IMPDH1 NM_000883.4(IMPDH1): c.849T> G (p.Asn283Lys) single nucleotide variant Pathogenic rs121912554 7:128040174-128040174 7:128400120-128400120
3 IMPDH1 NM_000883.4(IMPDH1): c.1108G> A (p.Ala370Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72624961 7:128037043-128037043 7:128396989-128396989

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

74
# 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

GO Terms for Leber Congenital Amaurosis 11

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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