MCID: LBR006
MIFTS: 18

Leber Congenital Amaurosis 11

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

Aliases & Classifications for Leber Congenital Amaurosis 11

MalaCards integrated aliases for Leber Congenital Amaurosis 11:

Name: Leber Congenital Amaurosis 11 57 12 53 75 29 13 6 73
Lca11 57 12 53 75
Amaurosis Congenita of Leber, Type 11 53
Leber Congenital Amaurosis, Type 11 40
Leber Congenital Amaurosis Type 11 53

Characteristics:

HPO:

32
leber congenital amaurosis 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613837
Disease Ontology 12 DOID:0110216
ICD10 33 H35.5
MedGen 42 C1840284
MeSH 44 D057130
UMLS 73 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 visual impairment and nystagmus

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 : 75 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

Clinical features from OMIM:

613837

Human phenotypes related to Leber Congenital Amaurosis 11:

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

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

Variations for Leber Congenital Amaurosis 11

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

75
# 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.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs121912553 GRCh37 Chromosome 7, 128040882: 128040882
2 IMPDH1 NM_000883.3(IMPDH1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs121912553 GRCh38 Chromosome 7, 128400828: 128400828
3 IMPDH1 NM_000883.3(IMPDH1): c.849T> G (p.Asn283Lys) single nucleotide variant Pathogenic rs121912554 GRCh37 Chromosome 7, 128040174: 128040174
4 IMPDH1 NM_000883.3(IMPDH1): c.849T> G (p.Asn283Lys) single nucleotide variant Pathogenic rs121912554 GRCh38 Chromosome 7, 128400120: 128400120

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 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
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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