LCA11
MCID: LBR006
MIFTS: 35

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 57 12 20 73 29 13 6 15 71
Lca11 57 12 20 73
Amaurosis Congenita of Leber, Type 11 20
Leber Congenital Amaurosis, Type 11 39
Leber Congenital Amaurosis Type 11 20

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 613837
OMIM Phenotypic Series 57 PS204000
MeSH 44 D057130
ICD10 32 H35.5
MedGen 41 C1840284
UMLS 71 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) (Updated 05-Mar-2021)

MalaCards based summary : Leber Congenital Amaurosis 11, also known as lca11, is related to severe early-childhood-onset retinal dystrophy and cone-rod dystrophy 8. 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 nystagmus and visual impairment

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 37)
# Related Disease Score Top Affiliating Genes
1 severe early-childhood-onset retinal dystrophy 9.9 SPATA7 LCA5
2 cone-rod dystrophy 8 9.7 LCA5 AIPL1
3 pseudopapilledema 9.7 RDH12 AIPL1
4 pigmented paravenous chorioretinal atrophy 9.6 RDH12 AIPL1
5 eye degenerative disease 9.5 RDH12 IMPDH1 AIPL1
6 choroidal dystrophy, central areolar, 1 9.4 SPATA7 AIPL1
7 achromatopsia 9.4 SPATA7 RDH12 AIPL1
8 retinal disease 9.4 RDH12 IMPDH1 AIPL1
9 usher syndrome, type iiia 9.3 RDH12 LCA5 IMPDH1 AIPL1
10 usher syndrome 9.3 RDH12 LCA5 IMPDH1 AIPL1
11 leber congenital amaurosis 14 9.2 SPATA7 RDH12 LCA5 AIPL1
12 leber congenital amaurosis 13 9.2 SPATA7 RDH12 LCA5 AIPL1
13 leber congenital amaurosis 12 9.2 SPATA7 RDH12 LCA5 AIPL1
14 retinal degeneration 9.2 SPATA7 RDH12 IMPDH1 AIPL1
15 cone dystrophy 9.2 SPATA7 RDH12 LCA5 AIPL1
16 bardet-biedl syndrome 9.1 SPATA7 RDH12 LCA5 AIPL1
17 leber congenital amaurosis 1 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
18 leber congenital amaurosis 7 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
19 leber congenital amaurosis 16 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
20 leber congenital amaurosis 5 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
21 leber congenital amaurosis 15 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
22 leber congenital amaurosis 6 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
23 leber congenital amaurosis 9 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
24 leber congenital amaurosis 8 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
25 leber congenital amaurosis 10 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
26 leber congenital amaurosis 3 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
27 leber congenital amaurosis 4 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
28 leber congenital amaurosis 2 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
29 pathologic nystagmus 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
30 senior-loken syndrome 1 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
31 stargardt disease 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
32 keratoconus 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
33 leber plus disease 9.0 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
34 joubert syndrome 1 8.9 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
35 fundus dystrophy 8.9 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
36 cone-rod dystrophy 2 8.9 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
37 retinitis pigmentosa 8.7 SPATA7 RDH12 LOC107986845 LCA5 IMPDH1 AIPL1

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 nystagmus 31 HP:0000639
2 visual impairment 31 HP:0000505
3 reduced visual acuity 31 HP:0007663

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
nystagmus
reduced visual acuity
reduced night vision
reduced peripheral vision
diffuse mottling of retinal pigment epithelium

Clinical features from OMIM®:

613837 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 11:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 AIPL1 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:

# Title Authors PMID Year
1
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. 6 57
16384941 2006
2
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 57
20006823 2009
3
Discovering candidate imprinted genes and imprinting control regions in the human genome. 61
32475352 2020
4
[Genotype screening of retinal dystrophies in the Japanese population using a microarray]. 61
23424971 2013
5
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301475 2004

Variations for Leber Congenital Amaurosis 11

ClinVar genetic disease variations for Leber Congenital Amaurosis 11:

6 (show top 50) (show all 81)
# 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.928A>C (p.Thr310Pro) SNV Likely pathogenic 374177 rs1057518949 7:128038614-128038614 7:128398560-128398560
3 IMPDH1 NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) SNV Uncertain significance 636175 rs144498273 7:128034606-128034606 7:128394552-128394552
4 IMPDH1 NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp) SNV Uncertain significance 14837 rs121912553 7:128040882-128040882 7:128400828-128400828
5 IMPDH1 NM_000883.4(IMPDH1):c.255-10C>T SNV Uncertain significance 912068 7:128045929-128045929 7:128405875-128405875
6 IMPDH1 NM_000883.4(IMPDH1):c.189A>G (p.Ser63=) SNV Uncertain significance 767199 rs143796089 7:128049496-128049496 7:128409442-128409442
7 IMPDH1 NM_000883.4(IMPDH1):c.146+6G>T SNV Uncertain significance 908059 7:128049804-128049804 7:128409750-128409750
8 IMPDH1 NM_000883.4(IMPDH1):c.1030C>T (p.Arg344Cys) SNV Uncertain significance 450043 rs370988040 7:128038512-128038512 7:128398458-128398458
9 IMPDH1 NM_000883.4(IMPDH1):c.290A>G (p.Tyr97Cys) SNV Uncertain significance 931163 7:128045884-128045884 7:128405830-128405830
10 IMPDH1 NM_000883.4(IMPDH1):c.942G>T (p.Lys314Asn) SNV Uncertain significance 931488 7:128038600-128038600 7:128398546-128398546
11 IMPDH1 NM_000883.4(IMPDH1):c.968A>C (p.Lys323Thr) SNV Uncertain significance 931699 7:128038574-128038574 7:128398520-128398520
12 IMPDH1 NM_000883.4(IMPDH1):c.*102G>T SNV Uncertain significance 910744 7:128032959-128032959 7:128392905-128392905
13 IMPDH1 NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu) SNV Uncertain significance 910797 7:128035310-128035310 7:128395256-128395256
14 IMPDH1 NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp) SNV Uncertain significance 910798 7:128036689-128036689 7:128396635-128396635
15 IMPDH1 NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg) SNV Uncertain significance 707014 rs61751223 7:128037009-128037009 7:128396955-128396955
16 IMPDH1 NM_000883.4(IMPDH1):c.561C>T (p.Asn187=) SNV Uncertain significance 910850 7:128040889-128040889 7:128400835-128400835
17 IMPDH1 NM_000883.4(IMPDH1):c.443C>T (p.Thr148Met) SNV Uncertain significance 857776 7:128041130-128041130 7:128401076-128401076
18 IMPDH1 NM_000883.4(IMPDH1):c.424C>T (p.Arg142Trp) SNV Uncertain significance 910851 7:128041149-128041149 7:128401095-128401095
19 IMPDH1 NM_000883.4(IMPDH1):c.*721G>A SNV Uncertain significance 911853 7:128032340-128032340 7:128392286-128392286
20 IMPDH1 NM_000883.4(IMPDH1):c.1695-11C>T SNV Uncertain significance 911966 7:128034426-128034426 7:128394372-128394372
21 IMPDH1 NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=) SNV Uncertain significance 711446 rs201803921 7:128034536-128034536 7:128394482-128394482
22 IMPDH1 NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=) SNV Uncertain significance 729916 rs139785999 7:128034542-128034542 7:128394488-128394488
23 IMPDH1 NM_000883.4(IMPDH1):c.1075-3C>T SNV Uncertain significance 912009 7:128037079-128037079 7:128397025-128397025
24 IMPDH1 NM_000883.4(IMPDH1):c.146+9C>T SNV Uncertain significance 358880 rs749118285 7:128049801-128049801 7:128409747-128409747
25 IMPDH1 NM_000883.4(IMPDH1):c.*259G>A SNV Uncertain significance 358863 rs535964010 7:128032802-128032802 7:128392748-128392748
26 IMPDH1 NM_000883.4(IMPDH1):c.1653C>T (p.His551=) SNV Uncertain significance 358872 rs147882304 7:128034551-128034551 7:128394497-128394497
27 IMPDH1 NM_000883.4(IMPDH1):c.*231C>G SNV Uncertain significance 358866 rs1042267 7:128032830-128032830 7:128392776-128392776
28 IMPDH1 NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=) SNV Uncertain significance 358874 rs780213373 7:128035240-128035240 7:128395186-128395186
29 IMPDH1 NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=) SNV Uncertain significance 358875 rs199623010 7:128035252-128035252 7:128395198-128395198
30 IMPDH1 NM_000883.4(IMPDH1):c.888C>T (p.Ile296=) SNV Uncertain significance 358877 rs72624957 7:128038654-128038654 7:128398600-128398600
31 IMPDH1 NM_000883.4(IMPDH1):c.*410G>A SNV Uncertain significance 909779 7:128032651-128032651 7:128392597-128392597
32 IMPDH1 NM_000883.4(IMPDH1):c.*196C>T SNV Uncertain significance 909847 7:128032865-128032865 7:128392811-128392811
33 IMPDH1 NM_000883.4(IMPDH1):c.*168G>A SNV Uncertain significance 909848 7:128032893-128032893 7:128392839-128392839
34 IMPDH1 NM_000883.4(IMPDH1):c.*137G>C SNV Uncertain significance 909849 7:128032924-128032924 7:128392870-128392870
35 IMPDH1 NM_000883.4(IMPDH1):c.*130A>G SNV Uncertain significance 909850 7:128032931-128032931 7:128392877-128392877
36 IMPDH1 NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile) SNV Uncertain significance 560464 rs564132747 7:128035060-128035060 7:128395006-128395006
37 IMPDH1 NM_000883.4(IMPDH1):c.694A>G (p.Thr232Ala) SNV Uncertain significance 909950 7:128040479-128040479 7:128400425-128400425
38 IMPDH1 NM_000883.4(IMPDH1):c.675T>C (p.Ser225=) SNV Uncertain significance 909951 7:128040498-128040498 7:128400444-128400444
39 IMPDH1 NM_000883.4(IMPDH1):c.-73G>C SNV Uncertain significance 910016 7:128050028-128050028 7:128409974-128409974
40 IMPDH1 NM_000883.4(IMPDH1):c.-77G>C SNV Uncertain significance 910017 7:128050032-128050032 7:128409978-128409978
41 IMPDH1 NM_000883.4(IMPDH1):c.-59G>A SNV Uncertain significance 358881 rs886061985 7:128050014-128050014 7:128409960-128409960
42 IMPDH1 NM_000883.4(IMPDH1):c.*202C>T SNV Uncertain significance 358869 rs886061982 7:128032859-128032859 7:128392805-128392805
43 IMPDH1 NM_000883.4(IMPDH1):c.*105T>A SNV Uncertain significance 358870 rs886061983 7:128032956-128032956 7:128392902-128392902
44 IMPDH1 NM_000883.4(IMPDH1):c.*321G>T SNV Uncertain significance 358861 rs571536404 7:128032740-128032740 7:128392686-128392686
45 IMPDH1 NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) SNV Uncertain significance 194611 rs150628823 7:128034396-128034396 7:128394342-128394342
46 IMPDH1 NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) SNV Uncertain significance 358878 rs144659635 7:128040404-128040404 7:128400350-128400350
47 IMPDH1 NM_000883.4(IMPDH1):c.*631C>T SNV Uncertain significance 358859 rs760544024 7:128032430-128032430 7:128392376-128392376
48 IMPDH1 NM_000883.4(IMPDH1):c.*223C>G SNV Uncertain significance 358868 rs543042380 7:128032838-128032838 7:128392784-128392784
49 IMPDH1 NM_000883.4(IMPDH1):c.*321G>A SNV Uncertain significance 358862 rs571536404 7:128032740-128032740 7:128392686-128392686
50 IMPDH1 NM_000883.4(IMPDH1):c.*258C>T SNV Uncertain significance 358864 rs886061981 7:128032803-128032803 7:128392749-128392749

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

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 ciliary basal body GO:0036064 9.26 SPATA7 LCA5
2 axoneme GO:0005930 9.16 SPATA7 LCA5
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 9.33 SPATA7 RDH12 AIPL1
2 visual perception GO:0007601 9.13 SPATA7 RDH12 AIPL1
3 photoreceptor cell maintenance GO:0045494 8.8 SPATA7 RDH12 LCA5

Sources for Leber Congenital Amaurosis 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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