LCA11
MCID: LBR006
MIFTS: 19

Leber Congenital Amaurosis 11 (LCA11)

Categories: Eye diseases, Genetic diseases, Metabolic 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 58 12 54 76 30 13 6 74
Lca11 58 12 54 76
Amaurosis Congenita of Leber, Type 11 54
Leber Congenital Amaurosis, Type 11 41
Leber Congenital Amaurosis Type 11 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
leber congenital amaurosis 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110216
OMIM 58 613837
MeSH 45 D057130
ICD10 34 H35.5
MedGen 43 C1840284
UMLS 74 C1840284

Summaries for Leber Congenital Amaurosis 11

OMIM : 58 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 : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 visual impairment 33 HP:0000505

Symptoms via clinical synopsis from OMIM:

58
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 30 IMPDH1

Anatomical Context for Leber Congenital Amaurosis 11

MalaCards organs/tissues related to Leber Congenital Amaurosis 11:

42
Retina, Eye

Publications for Leber Congenital Amaurosis 11

Variations for Leber Congenital Amaurosis 11

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

76
# Symbol AA change Variation ID SNP ID
1 IMPDH1 p.Arg105Trp VAR_065616
2 IMPDH1 p.Asn198Lys VAR_065618

ClinVar genetic disease variations for Leber Congenital Amaurosis 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IMPDH1 NM_000883.3(IMPDH1): c.849T> G (p.Asn283Lys) single nucleotide variant Pathogenic rs121912554 GRCh37 Chromosome 7, 128040174: 128040174
2 IMPDH1 NM_000883.3(IMPDH1): c.849T> G (p.Asn283Lys) single nucleotide variant Pathogenic rs121912554 GRCh38 Chromosome 7, 128400120: 128400120
3 IMPDH1 NM_000883.3(IMPDH1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs121912553 GRCh37 Chromosome 7, 128040882: 128040882
4 IMPDH1 NM_000883.3(IMPDH1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs121912553 GRCh38 Chromosome 7, 128400828: 128400828

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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