LCA6
MCID: LBR016
MIFTS: 31

Leber Congenital Amaurosis 6 (LCA6)

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

Aliases & Classifications for Leber Congenital Amaurosis 6

MalaCards integrated aliases for Leber Congenital Amaurosis 6:

Name: Leber Congenital Amaurosis 6 58 12 54 76 30 13 6 15 74
Lca6 58 12 54 76
Leber Congenital Amaurosis, Type 6 41
Leber Congenital Amaurosis Type 6 54

Characteristics:

HPO:

33
leber congenital amaurosis 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110329
OMIM 58 613826
MeSH 45 D057130
ICD10 34 H35.5
MedGen 43 C1854260
UMLS 74 C1854260

Summaries for Leber Congenital Amaurosis 6

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. (613826)

MalaCards based summary : Leber Congenital Amaurosis 6, also known as lca6, is related to cone-rod dystrophy 13 and photokeratitis. An important gene associated with Leber Congenital Amaurosis 6 is RPGRIP1 (RPGR Interacting Protein 1), and among its related pathways/superpathways are Spinal Cord Injury and Amphetamine addiction. Affiliated tissues include retina and eye, and related phenotypes are cataract and photophobia

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 : 76 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

Human phenotypes related to Leber Congenital Amaurosis 6:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 photophobia 33 HP:0000613
3 keratoconus 33 HP:0000563
4 attenuation of retinal blood vessels 33 HP:0007843
5 pendular nystagmus 33 HP:0012043
6 high hypermetropia 33 HP:0008499
7 severely reduced visual acuity 33 HP:0001141
8 undetectable electroretinogram 33 HP:0000550

Clinical features from OMIM:

613826

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 30 RPGRIP1

Anatomical Context for Leber Congenital Amaurosis 6

MalaCards organs/tissues related to Leber Congenital Amaurosis 6:

42
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:

76
# 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 top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPGRIP1 RPGRIP1, 1-BP DEL, LYS342 deletion Pathogenic
2 RPGRIP1 RPGRIP1, 1-BP DEL, ASP1176 deletion Pathogenic
3 RPGRIP1 NM_020366.3(RPGRIP1): c.194G> A (p.Trp65Ter) single nucleotide variant Pathogenic rs137853124 GRCh37 Chromosome 14, 21762944: 21762944
4 RPGRIP1 NM_020366.3(RPGRIP1): c.194G> A (p.Trp65Ter) single nucleotide variant Pathogenic rs137853124 GRCh38 Chromosome 14, 21294785: 21294785
5 RPGRIP1 RPGRIP1, 1-BP INS, GLN893 insertion Pathogenic
6 RPGRIP1 NM_020366.3(RPGRIP1): c.3341A> G (p.Asp1114Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs17103671 GRCh37 Chromosome 14, 21811196: 21811196
7 RPGRIP1 NM_020366.3(RPGRIP1): c.3341A> G (p.Asp1114Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs17103671 GRCh38 Chromosome 14, 21343037: 21343037
8 RPGRIP1 RPGRIP1, 3-BP DEL, 3835GAG deletion Pathogenic
9 MKS1 NM_017777.3(MKS1): c.958G> A (p.Val320Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs386834053 GRCh37 Chromosome 17, 56288341: 56288341
10 MKS1 NM_017777.3(MKS1): c.958G> A (p.Val320Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs386834053 GRCh38 Chromosome 17, 58210980: 58210980
11 RPGRIP1 NM_020366.3(RPGRIP1): c.1103delA (p.Glu370Asnfs) deletion Pathogenic rs61751266 GRCh37 Chromosome 14, 21780617: 21780617
12 RPGRIP1 NM_020366.3(RPGRIP1): c.1103delA (p.Glu370Asnfs) deletion Pathogenic rs61751266 GRCh38 Chromosome 14, 21312458: 21312458
13 RPGRIP1 NM_020366.3(RPGRIP1): c.256C> T (p.Arg86Trp) single nucleotide variant Benign rs62646879 GRCh37 Chromosome 14, 21769162: 21769162
14 RPGRIP1 NM_020366.3(RPGRIP1): c.256C> T (p.Arg86Trp) single nucleotide variant Benign rs62646879 GRCh38 Chromosome 14, 21301003: 21301003
15 RPGRIP1 NM_020366.3(RPGRIP1): c.3546C> T (p.Asp1182=) single nucleotide variant Conflicting interpretations of pathogenicity rs34116882 GRCh37 Chromosome 14, 21813285: 21813285
16 RPGRIP1 NM_020366.3(RPGRIP1): c.3546C> T (p.Asp1182=) single nucleotide variant Conflicting interpretations of pathogenicity rs34116882 GRCh38 Chromosome 14, 21345126: 21345126
17 RPGRIP1 NM_020366.3(RPGRIP1): c.1892A> T (p.His631Leu) single nucleotide variant Pathogenic rs535922252 GRCh38 Chromosome 14, 21324747: 21324747
18 RPGRIP1 NM_020366.3(RPGRIP1): c.1892A> T (p.His631Leu) single nucleotide variant Pathogenic rs535922252 GRCh37 Chromosome 14, 21792906: 21792906
19 RPGRIP1 NM_020366.3(RPGRIP1): c.3565_3571delCGAAGGC (p.Arg1189Glyfs) deletion Pathogenic rs587783012 GRCh37 Chromosome 14, 21813304: 21813310
20 RPGRIP1 NM_020366.3(RPGRIP1): c.3565_3571delCGAAGGC (p.Arg1189Glyfs) deletion Pathogenic rs587783012 GRCh38 Chromosome 14, 21345145: 21345151
21 RPGRIP1 NM_020366.3(RPGRIP1): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs587783018 GRCh37 Chromosome 14, 21775921: 21775921
22 RPGRIP1 NM_020366.3(RPGRIP1): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs587783018 GRCh38 Chromosome 14, 21307762: 21307762
23 RPGRIP1 NM_020366.3(RPGRIP1): c.2356C> T (p.Gln786Ter) single nucleotide variant Pathogenic rs587783019 GRCh38 Chromosome 14, 21325372: 21325372
24 RPGRIP1 NM_020366.3(RPGRIP1): c.2356C> T (p.Gln786Ter) single nucleotide variant Pathogenic rs587783019 GRCh37 Chromosome 14, 21793531: 21793531
25 RPGRIP1 NM_020366.3(RPGRIP1): c.900_906+14del21 deletion Likely pathogenic rs886039911 GRCh38 Chromosome 14, 21307830: 21307850
26 RPGRIP1 NM_020366.3(RPGRIP1): c.900_906+14del21 deletion Likely pathogenic rs886039911 GRCh37 Chromosome 14, 21775989: 21776009
27 RPGRIP1 NM_020366.3(RPGRIP1): c.2284C> T (p.Leu762=) single nucleotide variant Conflicting interpretations of pathogenicity rs145896974 GRCh37 Chromosome 14, 21793459: 21793459
28 RPGRIP1 NM_020366.3(RPGRIP1): c.2284C> T (p.Leu762=) single nucleotide variant Conflicting interpretations of pathogenicity rs145896974 GRCh38 Chromosome 14, 21325300: 21325300
29 RPGRIP1 NM_020366.3(RPGRIP1): c.3719G> A (p.Gly1240Glu) single nucleotide variant Benign/Likely benign rs34725281 GRCh38 Chromosome 14, 21348273: 21348273
30 RPGRIP1 NM_020366.3(RPGRIP1): c.3719G> A (p.Gly1240Glu) single nucleotide variant Benign/Likely benign rs34725281 GRCh37 Chromosome 14, 21816432: 21816432
31 RPGRIP1 NM_020366.3(RPGRIP1): c.2292G> A (p.Ala764=) single nucleotide variant Benign rs35207255 GRCh38 Chromosome 14, 21325308: 21325308
32 RPGRIP1 NM_020366.3(RPGRIP1): c.2292G> A (p.Ala764=) single nucleotide variant Benign rs35207255 GRCh37 Chromosome 14, 21793467: 21793467
33 RPGRIP1 NM_020366.3(RPGRIP1): c.3467_3468insCT (p.Glu1157Terfs) insertion Pathogenic rs776698746 GRCh38 Chromosome 14, 21343163: 21343164
34 RPGRIP1 NM_020366.3(RPGRIP1): c.3467_3468insCT (p.Glu1157Terfs) insertion Pathogenic rs776698746 GRCh37 Chromosome 14, 21811322: 21811323
35 RPGRIP1 NM_020366.3(RPGRIP1): c.2878G> C (p.Ala960Pro) single nucleotide variant Benign rs35810926 GRCh37 Chromosome 14, 21795949: 21795949
36 RPGRIP1 NM_020366.3(RPGRIP1): c.2878G> C (p.Ala960Pro) single nucleotide variant Benign rs35810926 GRCh38 Chromosome 14, 21327790: 21327790
37 RPGRIP1 NM_020366.3(RPGRIP1): c.3766C> G (p.Leu1256Val) single nucleotide variant Uncertain significance rs1405508889 GRCh37 Chromosome 14, 21819280: 21819280
38 RPGRIP1 NM_020366.3(RPGRIP1): c.3766C> G (p.Leu1256Val) single nucleotide variant Uncertain significance rs1405508889 GRCh38 Chromosome 14, 21351121: 21351121
39 RPGRIP1 NM_020366.3(RPGRIP1): c.799C> T (p.Arg267Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 21303542: 21303542
40 RPGRIP1 NM_020366.3(RPGRIP1): c.799C> T (p.Arg267Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 21771701: 21771701
41 RPGRIP1 NM_020366.3(RPGRIP1): c.2718dup (p.Asn907Terfs) duplication Pathogenic GRCh38 Chromosome 14, 21327630: 21327630
42 RPGRIP1 NM_020366.3(RPGRIP1): c.2718dup (p.Asn907Terfs) duplication Pathogenic GRCh37 Chromosome 14, 21795789: 21795789
43 RPGRIP1 NM_020366.3(RPGRIP1): c.2017C> T (p.Gln673Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 21793031: 21793031
44 RPGRIP1 NM_020366.3(RPGRIP1): c.2017C> T (p.Gln673Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 21324872: 21324872
45 RPGRIP1 NM_020366.3(RPGRIP1): c.938G> A (p.Gly313Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 21779990: 21779990
46 RPGRIP1 NM_020366.3(RPGRIP1): c.938G> A (p.Gly313Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 21311831: 21311831
47 RPGRIP1 NM_020366.3(RPGRIP1): c.931-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 21779981: 21779981
48 RPGRIP1 NM_020366.3(RPGRIP1): c.931-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 21311822: 21311822
49 RPGRIP1 NM_020366.3(RPGRIP1): c.2302C> T (p.Arg768Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 21325318: 21325318
50 RPGRIP1 NM_020366.3(RPGRIP1): c.2302C> T (p.Arg768Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 21793477: 21793477

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 11.45 FOS MIF
2
Show member pathways
11.39 FOS TH
3
Show member pathways
11.14 MIF TH
4
Show member pathways
10.96 FOS MIF
5 10.7 FOS TH
6 9.7 FOS MIF

GO Terms for Leber Congenital Amaurosis 6

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

# Name GO ID Score Top Affiliating Genes
1 response to nutrient levels GO:0031667 9.32 MAP1LC3A TH
2 response to light stimulus GO:0009416 9.26 FOS TH
3 response to immobilization stress GO:0035902 9.16 FOS TH
4 response to corticosterone GO:0051412 8.96 FOS TH
5 eye photoreceptor cell development GO:0042462 8.62 RPGRIP1 TH

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.23 CLTB DNAL1 FOS MAP1LC3A MIF RPGRIP1

Sources for Leber Congenital Amaurosis 6

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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