MCID: LBR016
MIFTS: 28

Leber Congenital Amaurosis 6

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

Aliases & Classifications for Leber Congenital Amaurosis 6

MalaCards integrated aliases for Leber Congenital Amaurosis 6:

Name: Leber Congenital Amaurosis 6 57 12 53 75 29 13 6 15 73
Lca6 57 12 53 75
Leber Congenital Amaurosis, Type 6 40
Leber Congenital Amaurosis Type 6 53

Characteristics:

HPO:

32
leber congenital amaurosis 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613826
Disease Ontology 12 DOID:0110329
ICD10 33 H35.5
MedGen 42 C1854260
MeSH 44 D057130
UMLS 73 C1854260

Summaries for Leber Congenital Amaurosis 6

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. (613826)

MalaCards based summary : Leber Congenital Amaurosis 6, also known as lca6, is related to pheochromocytoma. An important gene associated with Leber Congenital Amaurosis 6 is RPGRIP1 (RPGR Interacting Protein 1), and among its related pathways/superpathways are Amphetamine addiction and ATF-2 transcription factor network. Affiliated tissues include retina and eye, and related phenotypes are cataract and undetectable electroretinogram

Disease Ontology : 12 A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has material basis in mutation in the RPGRIP1 gene on chromosome 14q11.

UniProtKB/Swiss-Prot : 75 Leber congenital amaurosis 6: 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 6

Symptoms & Phenotypes for Leber Congenital Amaurosis 6

Clinical features from OMIM:

613826

Human phenotypes related to Leber Congenital Amaurosis 6:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 undetectable electroretinogram 32 HP:0000550
3 keratoconus 32 HP:0000563
4 photophobia 32 HP:0000613
5 severe visual impairment 32 HP:0001141
6 attenuation of retinal blood vessels 32 HP:0007843
7 high hypermetropia 32 HP:0008499
8 pendular nystagmus 32 HP:0012043

Drugs & Therapeutics for Leber Congenital Amaurosis 6

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 6

Genetic Tests for Leber Congenital Amaurosis 6

Genetic tests related to Leber Congenital Amaurosis 6:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 6 29 RPGRIP1

Anatomical Context for Leber Congenital Amaurosis 6

MalaCards organs/tissues related to Leber Congenital Amaurosis 6:

41
Retina, Eye

Publications for Leber Congenital Amaurosis 6

Variations for Leber Congenital Amaurosis 6

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 6:

75
# Symbol AA change Variation ID SNP ID
1 RPGRIP1 p.Gly746Glu VAR_017833 rs61751268
2 RPGRIP1 p.Asp1114Gly VAR_017836 rs17103671
3 RPGRIP1 p.His631Pro VAR_067186
4 RPGRIP1 p.Val1211Glu VAR_076823

ClinVar genetic disease variations for Leber Congenital Amaurosis 6:

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPGRIP1 RPGRIP1, 1-BP DEL, ASP1176 deletion Pathogenic
2 RPGRIP1 NM_020366.3(RPGRIP1): c.194G> A (p.Trp65Ter) single nucleotide variant Pathogenic rs137853124 GRCh37 Chromosome 14, 21762944: 21762944
3 RPGRIP1 NM_020366.3(RPGRIP1): c.194G> A (p.Trp65Ter) single nucleotide variant Pathogenic rs137853124 GRCh38 Chromosome 14, 21294785: 21294785
4 RPGRIP1 RPGRIP1, 1-BP INS, GLN893 insertion Pathogenic
5 RPGRIP1 RPGRIP1, 1-BP DEL, LYS342 deletion Pathogenic
6 RPGRIP1 RPGRIP1, 3-BP DEL, 3835GAG deletion Pathogenic
7 RPGRIP1 NM_020366.3(RPGRIP1): c.1103delA (p.Glu370Asnfs) deletion Pathogenic rs61751266 GRCh37 Chromosome 14, 21780617: 21780617
8 RPGRIP1 NM_020366.3(RPGRIP1): c.1103delA (p.Glu370Asnfs) deletion Pathogenic rs61751266 GRCh38 Chromosome 14, 21312458: 21312458
9 RPGRIP1 NM_020366.3(RPGRIP1): c.1892A> T (p.His631Leu) single nucleotide variant Pathogenic rs535922252 GRCh38 Chromosome 14, 21324747: 21324747
10 RPGRIP1 NM_020366.3(RPGRIP1): c.1892A> T (p.His631Leu) single nucleotide variant Pathogenic rs535922252 GRCh37 Chromosome 14, 21792906: 21792906
11 RPGRIP1 NM_020366.3(RPGRIP1): c.3565_3571delCGAAGGC (p.Arg1189Glyfs) deletion Pathogenic rs587783012 GRCh37 Chromosome 14, 21813304: 21813310
12 RPGRIP1 NM_020366.3(RPGRIP1): c.3565_3571delCGAAGGC (p.Arg1189Glyfs) deletion Pathogenic rs587783012 GRCh38 Chromosome 14, 21345145: 21345151
13 RPGRIP1 NM_020366.3(RPGRIP1): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs587783018 GRCh37 Chromosome 14, 21775921: 21775921
14 RPGRIP1 NM_020366.3(RPGRIP1): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs587783018 GRCh38 Chromosome 14, 21307762: 21307762
15 RPGRIP1 NM_020366.3(RPGRIP1): c.2356C> T (p.Gln786Ter) single nucleotide variant Pathogenic rs587783019 GRCh38 Chromosome 14, 21325372: 21325372
16 RPGRIP1 NM_020366.3(RPGRIP1): c.2356C> T (p.Gln786Ter) single nucleotide variant Pathogenic rs587783019 GRCh37 Chromosome 14, 21793531: 21793531
17 RPGRIP1 NM_020366.3(RPGRIP1): c.900_906+14del21 deletion Likely pathogenic rs886039911 GRCh38 Chromosome 14, 21307830: 21307850
18 RPGRIP1 NM_020366.3(RPGRIP1): c.900_906+14del21 deletion Likely pathogenic rs886039911 GRCh37 Chromosome 14, 21775989: 21776009
19 RPGRIP1 NM_020366.3(RPGRIP1): c.2284C> T (p.Leu762=) single nucleotide variant Conflicting interpretations of pathogenicity rs145896974 GRCh37 Chromosome 14, 21793459: 21793459
20 RPGRIP1 NM_020366.3(RPGRIP1): c.2284C> T (p.Leu762=) single nucleotide variant Conflicting interpretations of pathogenicity rs145896974 GRCh38 Chromosome 14, 21325300: 21325300
21 RPGRIP1 NM_020366.3(RPGRIP1): c.3719G> A (p.Gly1240Glu) single nucleotide variant Benign/Likely benign rs34725281 GRCh38 Chromosome 14, 21348273: 21348273
22 RPGRIP1 NM_020366.3(RPGRIP1): c.3719G> A (p.Gly1240Glu) single nucleotide variant Benign/Likely benign rs34725281 GRCh37 Chromosome 14, 21816432: 21816432
23 RPGRIP1 NM_020366.3(RPGRIP1): c.2292G> A (p.Ala764=) single nucleotide variant Benign rs35207255 GRCh38 Chromosome 14, 21325308: 21325308
24 RPGRIP1 NM_020366.3(RPGRIP1): c.2292G> A (p.Ala764=) single nucleotide variant Benign rs35207255 GRCh37 Chromosome 14, 21793467: 21793467
25 RPGRIP1 NM_020366.3(RPGRIP1): c.1468-2A> G single nucleotide variant Pathogenic rs751342895 GRCh37 Chromosome 14, 21789416: 21789416
26 RPGRIP1 NM_020366.3(RPGRIP1): c.1468-2A> G single nucleotide variant Pathogenic rs751342895 GRCh38 Chromosome 14, 21321257: 21321257
27 RPGRIP1 NM_020366.3(RPGRIP1): c.2554C> T (p.Arg852Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 21794176: 21794176
28 RPGRIP1 NM_020366.3(RPGRIP1): c.2554C> T (p.Arg852Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 21326017: 21326017
29 RPGRIP1 NM_020366.3(RPGRIP1): c.3467_3468insCT (p.Glu1157Terfs) insertion Pathogenic rs776698746 GRCh38 Chromosome 14, 21343163: 21343164
30 RPGRIP1 NM_020366.3(RPGRIP1): c.3467_3468insCT (p.Glu1157Terfs) insertion Pathogenic rs776698746 GRCh37 Chromosome 14, 21811322: 21811323
31 RPGRIP1 NM_020366.3(RPGRIP1): c.2878G> C (p.Ala960Pro) single nucleotide variant Benign rs35810926 GRCh37 Chromosome 14, 21795949: 21795949
32 RPGRIP1 NM_020366.3(RPGRIP1): c.2878G> C (p.Ala960Pro) single nucleotide variant Benign rs35810926 GRCh38 Chromosome 14, 21327790: 21327790
33 RPGRIP1 NM_020366.3(RPGRIP1): c.3766C> G (p.Leu1256Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 21819280: 21819280
34 RPGRIP1 NM_020366.3(RPGRIP1): c.3766C> G (p.Leu1256Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 21351121: 21351121

Expression for Leber Congenital Amaurosis 6

Search GEO for disease gene expression data for Leber Congenital Amaurosis 6.

Pathways for Leber Congenital Amaurosis 6

Pathways related to Leber Congenital Amaurosis 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.02 FOS TH
2 10.36 FOS TH

GO Terms for Leber Congenital Amaurosis 6

Cellular components related to Leber Congenital Amaurosis 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle membrane GO:0030659 8.96 CLTB TH
2 cytoplasmic vesicle GO:0031410 8.8 CLTB MAP1LC3A TH

Biological processes related to Leber Congenital Amaurosis 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.43 RPGRIP1 TH
2 response to lipopolysaccharide GO:0032496 9.4 FOS TH
3 response to organic cyclic compound GO:0014070 9.37 FOS TH
4 response to nutrient levels GO:0031667 9.32 MAP1LC3A TH
5 response to light stimulus GO:0009416 9.26 FOS TH
6 response to immobilization stress GO:0035902 9.16 FOS TH
7 eye photoreceptor cell development GO:0042462 8.96 RPGRIP1 TH
8 response to corticosterone GO:0051412 8.62 FOS TH

Sources for Leber Congenital Amaurosis 6

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
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44 MeSH
45 MESH via Orphanet
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49 NCI
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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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