MCID: LBR017
MIFTS: 19

Leber Congenital Amaurosis 7

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

Aliases & Classifications for Leber Congenital Amaurosis 7

MalaCards integrated aliases for Leber Congenital Amaurosis 7:

Name: Leber Congenital Amaurosis 7 57 12 53 75 29 13 6 73
Lca7 57 12 53 75
Leber Congenital Amaurosis, Type 7 40

Characteristics:

HPO:

32
leber congenital amaurosis 7:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leber Congenital Amaurosis 7

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. (613829)

MalaCards based summary : Leber Congenital Amaurosis 7, is also known as lca7. An important gene associated with Leber Congenital Amaurosis 7 is CRX (Cone-Rod Homeobox). Affiliated tissues include retina and eye, and related phenotypes are visual impairment and cataract

Disease Ontology : 12 A Leber congenital amaurosis that has material basis in mutation in the CRX gene on chromosome 19q13.

UniProtKB/Swiss-Prot : 75 Leber congenital amaurosis 7: 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 7

Symptoms & Phenotypes for Leber Congenital Amaurosis 7

Clinical features from OMIM:

613829

Human phenotypes related to Leber Congenital Amaurosis 7:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 cataract 32 HP:0000518
3 undetectable electroretinogram 32 HP:0000550
4 keratoconus 32 HP:0000563
5 photophobia 32 HP:0000613
6 pendular nystagmus 32 HP:0012043

Drugs & Therapeutics for Leber Congenital Amaurosis 7

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 7

Genetic Tests for Leber Congenital Amaurosis 7

Genetic tests related to Leber Congenital Amaurosis 7:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 7 29 CRX

Anatomical Context for Leber Congenital Amaurosis 7

MalaCards organs/tissues related to Leber Congenital Amaurosis 7:

41
Retina, Eye

Publications for Leber Congenital Amaurosis 7

Variations for Leber Congenital Amaurosis 7

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 7:

75
# Symbol AA change Variation ID SNP ID
1 CRX p.Arg90Trp VAR_008714 rs104894673
2 CRX p.Lys88Asn VAR_063919

ClinVar genetic disease variations for Leber Congenital Amaurosis 7:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRX CRX, 2-BP DEL, GLU168 deletion Pathogenic
2 CRX CRX, 1-BP DEL, GLY217 deletion Pathogenic
3 CRX NM_000554.5(CRX): c.268C> T (p.Arg90Trp) single nucleotide variant Pathogenic rs104894673 GRCh37 Chromosome 19, 48342592: 48342592
4 CRX NM_000554.5(CRX): c.268C> T (p.Arg90Trp) single nucleotide variant Pathogenic rs104894673 GRCh38 Chromosome 19, 47839335: 47839335
5 CRX CRX, 1-BP DEL, 520G deletion Pathogenic
6 CRX NM_000554.5(CRX): c.529delG (p.Ala177Leufs) deletion Pathogenic rs61748449 GRCh37 Chromosome 19, 48342853: 48342853
7 CRX NM_000554.5(CRX): c.529delG (p.Ala177Leufs) deletion Pathogenic rs61748449 GRCh38 Chromosome 19, 47839596: 47839596
8 CRX NM_000554.5(CRX): c.124G> A (p.Glu42Lys) single nucleotide variant Likely pathogenic rs863224863 GRCh38 Chromosome 19, 47836266: 47836266
9 CRX NM_000554.5(CRX): c.124G> A (p.Glu42Lys) single nucleotide variant Likely pathogenic rs863224863 GRCh37 Chromosome 19, 48339523: 48339523
10 CRX NM_000554.5(CRX): c.448delT (p.Ser150Glnfs) deletion Pathogenic rs886044121 GRCh37 Chromosome 19, 48342772: 48342772
11 CRX NM_000554.5(CRX): c.448delT (p.Ser150Glnfs) deletion Pathogenic rs886044121 GRCh38 Chromosome 19, 47839515: 47839515

Expression for Leber Congenital Amaurosis 7

Search GEO for disease gene expression data for Leber Congenital Amaurosis 7.

Pathways for Leber Congenital Amaurosis 7

GO Terms for Leber Congenital Amaurosis 7

Sources for Leber Congenital Amaurosis 7

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
51 NDF-RT
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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