LCA11
MCID: LBR006
MIFTS: 36

Leber Congenital Amaurosis 11 (LCA11)

Categories: Eye diseases, Genetic 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 56 12 52 73 29 13 6 15 71
Lca11 56 12 52 73
Amaurosis Congenita of Leber, Type 11 52
Leber Congenital Amaurosis, Type 11 39
Leber Congenital Amaurosis Type 11 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
leber congenital amaurosis 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110216
OMIM 56 613837
OMIM Phenotypic Series 56 PS204000
MeSH 43 D057130
ICD10 32 H35.5
MedGen 41 C1840284
UMLS 71 C1840284

Summaries for Leber Congenital Amaurosis 11

OMIM : 56 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, also known as lca11, is related to cone-rod dystrophy 17 and partial central choroid dystrophy. An important gene associated with Leber Congenital Amaurosis 11 is IMPDH1 (Inosine Monophosphate Dehydrogenase 1), and among its related pathways/superpathways is Visual Cycle in Retinal Rods. 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 : 73 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

Diseases in the Leber Congenital Amaurosis 4 family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 9 Leber Congenital Amaurosis 12
Leber Congenital Amaurosis 10 Leber Congenital Amaurosis 13
Leber Congenital Amaurosis 14 Leber Congenital Amaurosis 6
Leber Congenital Amaurosis 7 Leber Congenital Amaurosis 8
Leber Congenital Amaurosis 11 Leber Congenital Amaurosis 15
Leber Congenital Amaurosis 16 Leber Congenital Amaurosis 17
Leber Congenital Amaurosis 19

Diseases related to Leber Congenital Amaurosis 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 17 9.8 GUCY2D AIPL1
2 partial central choroid dystrophy 9.8 GUCY2D AIPL1
3 hereditary choroidal atrophy 9.8 GUCY2D AIPL1
4 cone-rod dystrophy 12 9.8 GUCY2D AIPL1
5 yemenite deaf-blind hypopigmentation syndrome 9.7 GUCY2D AIPL1
6 choroid disease 9.7 GUCY2D AIPL1
7 color blindness 9.7 GUCY2D AIPL1
8 cone-rod dystrophy 8 9.5 LCA5 GUCY2D AIPL1
9 fundus albipunctatus 9.5 RDH12 GUCY2D
10 choroidal dystrophy, central areolar, 1 9.4 SPATA7 GUCY2D AIPL1
11 usher syndrome 9.4 RDH12 LCA5 GUCY2D
12 pseudopapilledema 9.3 RDH12 GUCY2D AIPL1
13 pigmented paravenous chorioretinal atrophy 9.2 RDH12 GUCY2D AIPL1
14 leber congenital amaurosis 16 9.2 SPATA7 LCA5 GUCY2D AIPL1
15 leber congenital amaurosis 12 9.2 SPATA7 LCA5 GUCY2D AIPL1
16 congenital stationary night blindness 9.1 RDH12 GUCY2D AIPL1
17 usher syndrome, type iiia 9.0 RDH12 LCA5 IMPDH1 AIPL1
18 leber congenital amaurosis 13 9.0 SPATA7 RDH12 LCA5 AIPL1
19 eye degenerative disease 8.9 RDH12 IMPDH1 GUCY2D AIPL1
20 retinal disease 8.9 RDH12 IMPDH1 GUCY2D AIPL1
21 eye disease 8.9 RDH12 GUCY2D AIPL1
22 achromatopsia 8.9 SPATA7 RDH12 GUCY2D AIPL1
23 stargardt disease 8.8 SPATA7 RDH12 GUCY2D AIPL1
24 cone-rod dystrophy 2 8.8 RDH12 GUCY2D AIPL1
25 leber congenital amaurosis 14 8.7 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
26 leber congenital amaurosis 5 8.7 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
27 leber congenital amaurosis 15 8.7 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
28 retinal degeneration 8.6 SPATA7 RDH12 IMPDH1 GUCY2D AIPL1
29 inherited retinal disorder 8.5 SPATA7 RDH12 LCA5 GUCY2D AIPL1
30 leber congenital amaurosis 8 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
31 leber congenital amaurosis 7 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
32 leber congenital amaurosis 6 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
33 leber congenital amaurosis 1 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
34 leber congenital amaurosis 10 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
35 leber congenital amaurosis 9 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
36 leber congenital amaurosis 4 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
37 leber congenital amaurosis 3 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
38 leber congenital amaurosis 2 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
39 senior-loken syndrome 1 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
40 pathologic nystagmus 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
41 keratoconus 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
42 leber plus disease 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
43 bardet-biedl syndrome 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
44 joubert syndrome 1 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
45 fundus dystrophy 8.3 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
46 retinitis pigmentosa 7.9 SPATA7 RDH12 LOC107986845 LCA5 IMPDH1 GUCY2D

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 11:



Diseases related to Leber Congenital Amaurosis 11

Symptoms & Phenotypes for Leber Congenital Amaurosis 11

Human phenotypes related to Leber Congenital Amaurosis 11:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 nystagmus 31 HP:0000639
3 reduced visual acuity 31 HP:0007663

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 11:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 AIPL1 GUCY2D IMPDH1 LCA5 RDH12 SPATA7

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:

40
Retina, Eye

Publications for Leber Congenital Amaurosis 11

Articles related to Leber Congenital Amaurosis 11:

(show all 11)
# Title Authors PMID Year
1
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. 6 56
16384941 2006
2
Leber Congenital Amaurosis – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
20301475 2004
3
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview 6
30285347 2018
4
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 6
23105016 2013
5
Genetics and molecular basis of human peroxisome biogenesis disorders. 6
22871920 2012
6
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 56
20006823 2009
7
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
8
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
9
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6
9398848 1997
10
Discovering candidate imprinted genes and imprinting control regions in the human genome. 61
32475352 2020
11
[Genotype screening of retinal dystrophies in the Japanese population using a microarray]. 61
23424971 2013

Variations for Leber Congenital Amaurosis 11

ClinVar genetic disease variations for Leber Congenital Amaurosis 11:

6 (show top 50) (show all 75) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IMPDH1 NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys)SNV Pathogenic 14838 rs121912554 7:128040174-128040174 7:128400120-128400120
2 IMPDH1 NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr)SNV Conflicting interpretations of pathogenicity 193819 rs72624961 7:128037043-128037043 7:128396989-128396989
3 IMPDH1 NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)SNV Conflicting interpretations of pathogenicity 14837 rs121912553 7:128040882-128040882 7:128400828-128400828
4 IMPDH1 NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)SNV Conflicting interpretations of pathogenicity 197169 rs547740249 7:128045838-128045838 7:128405784-128405784
5 IMPDH1 NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=)SNV Conflicting interpretations of pathogenicity 358875 rs199623010 7:128035252-128035252 7:128395198-128395198
6 IMPDH1 NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala)SNV Conflicting interpretations of pathogenicity 358878 rs144659635 7:128040404-128040404 7:128400350-128400350
7 IMPDH1 NM_000883.4(IMPDH1):c.*223C>GSNV Conflicting interpretations of pathogenicity 358868 rs543042380 7:128032838-128032838 7:128392784-128392784
8 IMPDH1 NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)SNV Conflicting interpretations of pathogenicity 636175 7:128034606-128034606 7:128394552-128394552
9 IMPDH1 NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg)SNV Conflicting interpretations of pathogenicity 707014 7:128037009-128037009 7:128396955-128396955
10 IMPDH1 NM_000883.4(IMPDH1):c.930C>T (p.Thr310=)SNV Conflicting interpretations of pathogenicity 772300 7:128038612-128038612 7:128398558-128398558
11 IMPDH1 NM_000883.4(IMPDH1):c.189A>G (p.Ser63=)SNV Conflicting interpretations of pathogenicity 767199 7:128049496-128049496 7:128409442-128409442
12 IMPDH1 NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=)SNV Conflicting interpretations of pathogenicity 711446 7:128034536-128034536 7:128394482-128394482
13 IMPDH1 NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=)SNV Conflicting interpretations of pathogenicity 729916 7:128034542-128034542 7:128394488-128394488
14 IMPDH1 NM_000883.4(IMPDH1):c.*196C>TSNV Conflicting interpretations of pathogenicity 909847 7:128032865-128032865 7:128392811-128392811
15 IMPDH1 NM_000883.4(IMPDH1):c.*168G>ASNV Uncertain significance 909848 7:128032893-128032893 7:128392839-128392839
16 IMPDH1 NM_000883.4(IMPDH1):c.*137G>CSNV Uncertain significance 909849 7:128032924-128032924 7:128392870-128392870
17 IMPDH1 NM_000883.4(IMPDH1):c.*130A>GSNV Uncertain significance 909850 7:128032931-128032931 7:128392877-128392877
18 IMPDH1 NM_000883.4(IMPDH1):c.*102G>TSNV Uncertain significance 910744 7:128032959-128032959 7:128392905-128392905
19 IMPDH1 NM_000883.4(IMPDH1):c.1589G>A (p.Gly530Asp)SNV Uncertain significance 909033 7:128034615-128034615 7:128394561-128394561
20 IMPDH1 NM_000883.4(IMPDH1):c.1573G>T (p.Ala525Ser)SNV Uncertain significance 909034 7:128034631-128034631 7:128394577-128394577
21 IMPDH1 NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu)SNV Uncertain significance 910797 7:128035310-128035310 7:128395256-128395256
22 IMPDH1 NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp)SNV Uncertain significance 910798 7:128036689-128036689 7:128396635-128396635
23 IMPDH1 NM_000883.4(IMPDH1):c.795G>A (p.Thr265=)SNV Uncertain significance 909095 7:128040228-128040228 7:128400174-128400174
24 IMPDH1 NM_000883.4(IMPDH1):c.694A>G (p.Thr232Ala)SNV Uncertain significance 909950 7:128040479-128040479 7:128400425-128400425
25 IMPDH1 NM_000883.4(IMPDH1):c.675T>C (p.Ser225=)SNV Uncertain significance 909951 7:128040498-128040498 7:128400444-128400444
26 IMPDH1 NM_000883.4(IMPDH1):c.561C>T (p.Asn187=)SNV Uncertain significance 910850 7:128040889-128040889 7:128400835-128400835
27 IMPDH1 NM_000883.4(IMPDH1):c.424C>T (p.Arg142Trp)SNV Uncertain significance 910851 7:128041149-128041149 7:128401095-128401095
28 IMPDH1 NM_000883.4(IMPDH1):c.-13C>TSNV Uncertain significance 908060 7:128049968-128049968 7:128409914-128409914
29 IMPDH1 NM_000883.4(IMPDH1):c.-17T>CSNV Uncertain significance 908061 7:128049972-128049972 7:128409918-128409918
30 IMPDH1 NM_000883.4(IMPDH1):c.-73G>CSNV Uncertain significance 910016 7:128050028-128050028 7:128409974-128409974
31 IMPDH1 NM_000883.4(IMPDH1):c.-77G>CSNV Uncertain significance 910017 7:128050032-128050032 7:128409978-128409978
32 IMPDH1 NM_000883.4(IMPDH1):c.1695-11C>TSNV Uncertain significance 911966 7:128034426-128034426 7:128394372-128394372
33 IMPDH1 NM_000883.4(IMPDH1):c.1075-3C>TSNV Uncertain significance 912009 7:128037079-128037079 7:128397025-128397025
34 IMPDH1 NM_000883.4(IMPDH1):c.255-10C>TSNV Uncertain significance 912068 7:128045929-128045929 7:128405875-128405875
35 IMPDH1 NM_000883.4(IMPDH1):c.146+6G>TSNV Uncertain significance 908059 7:128049804-128049804 7:128409750-128409750
36 IMPDH1 NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro)SNV Uncertain significance 813046 7:128049885-128049885 7:128409831-128409831
37 IMPDH1 NM_000883.4(IMPDH1):c.841G>C (p.Glu281Gln)SNV Uncertain significance 855604 7:128040182-128040182 7:128400128-128400128
38 IMPDH1 NM_000883.4(IMPDH1):c.443C>T (p.Thr148Met)SNV Uncertain significance 857776 7:128041130-128041130 7:128401076-128401076
39 IMPDH1 NM_000883.4(IMPDH1):c.*721G>ASNV Uncertain significance 911853 7:128032340-128032340 7:128392286-128392286
40 IMPDH1 NM_000883.4(IMPDH1):c.*694C>ASNV Uncertain significance 908908 7:128032367-128032367 7:128392313-128392313
41 IMPDH1 NM_000883.4(IMPDH1):c.*642G>ASNV Uncertain significance 908909 7:128032419-128032419 7:128392365-128392365
42 IMPDH1 NM_000883.4(IMPDH1):c.*613T>CSNV Uncertain significance 909777 7:128032448-128032448 7:128392394-128392394
43 IMPDH1 NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile)SNV Uncertain significance 358871 rs886061984 7:128034406-128034406 7:128394352-128394352
44 IMPDH1 NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=)SNV Uncertain significance 358874 rs780213373 7:128035240-128035240 7:128395186-128395186
45 IMPDH1 NM_000883.4(IMPDH1):c.*259G>ASNV Uncertain significance 358863 rs535964010 7:128032802-128032802 7:128392748-128392748
46 IMPDH1 NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln)SNV Uncertain significance 194611 rs150628823 7:128034396-128034396 7:128394342-128394342
47 IMPDH1 NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln)SNV Uncertain significance 358879 rs201071873 7:128040436-128040436 7:128400382-128400382
48 IMPDH1 NM_000883.4(IMPDH1):c.*105T>ASNV Uncertain significance 358870 rs886061983 7:128032956-128032956 7:128392902-128392902
49 IMPDH1 NM_000883.4(IMPDH1):c.-59G>ASNV Uncertain significance 358881 rs886061985 7:128050014-128050014 7:128409960-128409960
50 IMPDH1 NM_000883.4(IMPDH1):c.*631C>TSNV Uncertain significance 358859 rs760544024 7:128032430-128032430 7:128392376-128392376

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

73
# Symbol AA change Variation ID SNP ID
1 IMPDH1 p.Arg105Trp VAR_065616
2 IMPDH1 p.Asn198Lys VAR_065618

Expression for Leber Congenital Amaurosis 11

Search GEO for disease gene expression data for Leber Congenital Amaurosis 11.

Pathways for Leber Congenital Amaurosis 11

Pathways related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.6 RDH12 GUCY2D

GO Terms for Leber Congenital Amaurosis 11

Cellular components related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axoneme GO:0005930 9.26 SPATA7 LCA5
2 photoreceptor outer segment GO:0001750 9.16 SPATA7 GUCY2D
3 photoreceptor inner segment GO:0001917 8.96 RDH12 AIPL1
4 photoreceptor connecting cilium GO:0032391 8.62 SPATA7 LCA5

Biological processes related to Leber Congenital Amaurosis 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.46 SPATA7 RDH12 GUCY2D AIPL1
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 GUCY2D AIPL1
3 visual perception GO:0007601 9.26 SPATA7 RDH12 GUCY2D AIPL1
4 photoreceptor cell maintenance GO:0045494 8.8 SPATA7 RDH12 LCA5

Sources for Leber Congenital Amaurosis 11

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11 DGIdb
17 EFO
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57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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