LCA7
MCID: LBR017
MIFTS: 38

Leber Congenital Amaurosis 7 (LCA7)

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

Aliases & Classifications for Leber Congenital Amaurosis 7

MalaCards integrated aliases for Leber Congenital Amaurosis 7:

Name: Leber Congenital Amaurosis 7 56 12 52 73 29 13 6 15 71
Lca7 56 12 52 73
Leber Congenital Amaurosis, Type 7 39

Characteristics:

HPO:

31
leber congenital amaurosis 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110333
OMIM 56 613829
OMIM Phenotypic Series 56 PS204000
MeSH 43 D057130
ICD10 32 H35.5
MedGen 41 C3151192
UMLS 71 C3151192

Summaries for Leber Congenital Amaurosis 7

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. (613829)

MalaCards based summary : Leber Congenital Amaurosis 7, also known as lca7, is related to retinitis pigmentosa 28 and cone-rod dystrophy 17. An important gene associated with Leber Congenital Amaurosis 7 is CRX (Cone-Rod Homeobox). Affiliated tissues include retina and eye, and related phenotypes are cataract and visual impairment

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

UniProtKB/Swiss-Prot : 73 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

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28 10.1 LCA5 CRX
2 cone-rod dystrophy 17 10.1 GUCY2D AIPL1
3 cone-rod dystrophy 12 10.0 GUCY2D AIPL1
4 cone-rod dystrophy 3 10.0 GUCY2D CRX
5 enhanced s-cone syndrome 10.0 CRX AIPL1
6 choroid disease 10.0 GUCY2D AIPL1
7 retinitis pigmentosa 1 9.9 IMPDH1 CRX
8 solar retinopathy 9.9 RDH12 CRB1
9 achromatopsia 3 9.8 GUCY2D CRB1
10 pseudoretinitis pigmentosa 9.8 IMPDH1 CRB1
11 partial central choroid dystrophy 9.8 GUCY2D CRX AIPL1
12 hereditary choroidal atrophy 9.8 GUCY2D CRX AIPL1
13 chorioretinal scar 9.8 RDH12 CRB1
14 cone-rod dystrophy 8 9.8 LCA5 GUCY2D AIPL1
15 color blindness 9.8 GUCY2D CRX AIPL1
16 scotoma 9.8 GUCY2D CRB1
17 retinoschisis 1, x-linked, juvenile 9.7 CRX CRB1
18 degeneration of macula and posterior pole 9.7 CRX CRB1
19 hereditary retinal dystrophy 9.7 GUCY2D CRX CRB1
20 cone-rod dystrophy 6 9.6 GUCY2D CRX CRB1
21 yemenite deaf-blind hypopigmentation syndrome 9.6 GUCY2D CRB1 AIPL1
22 retinitis 9.5 RDH12 IMPDH1 CRB1
23 nanophthalmos 9.5 LCA5 CRB1
24 cone-rod dystrophy 2 9.4 RDH12 GUCY2D CRX AIPL1
25 fundus albipunctatus 9.3 RDH12 GUCY2D CRX CRB1
26 pseudopapilledema 9.3 RDH12 GUCY2D CRB1 AIPL1
27 pigmented paravenous chorioretinal atrophy 9.3 RDH12 GUCY2D CRB1 AIPL1
28 choroidal dystrophy, central areolar, 1 9.2 SPATA7 GUCY2D CRX AIPL1
29 leber congenital amaurosis 12 9.2 SPATA7 LCA5 GUCY2D AIPL1
30 macular degeneration, age-related, 1 9.2 RDH12 GUCY2D CRX CRB1
31 leber congenital amaurosis 13 9.2 SPATA7 RDH12 LCA5 AIPL1
32 usher syndrome 9.0 RDH12 LCA5 GUCY2D CRX CRB1
33 congenital stationary night blindness 9.0 RDH12 GUCY2D CRX CRB1 AIPL1
34 eye disease 9.0 RDH12 GUCY2D CRX CRB1 AIPL1
35 usher syndrome, type iiia 8.9 RDH12 LCA5 IMPDH1 CRB1 AIPL1
36 leber congenital amaurosis 14 8.8 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
37 leber congenital amaurosis 5 8.8 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
38 leber congenital amaurosis 15 8.8 SPATA7 RDH12 LCA5 IMPDH1 AIPL1
39 leber congenital amaurosis 16 8.8 SPATA7 LCA5 GUCY2D CRB1 AIPL1
40 eye degenerative disease 8.6 RDH12 IMPDH1 GUCY2D CRX CRB1 AIPL1
41 retinal disease 8.6 RDH12 IMPDH1 GUCY2D CRX CRB1 AIPL1
42 leber congenital amaurosis 11 8.5 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D AIPL1
43 achromatopsia 8.4 SPATA7 RDH12 GUCY2D CRX CRB1 AIPL1
44 stargardt disease 8.4 SPATA7 RDH12 GUCY2D CRX CRB1 AIPL1
45 inherited retinal disorder 8.1 SPATA7 RDH12 LCA5 GUCY2D CRX CRB1
46 leber congenital amaurosis 6 8.0 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
47 retinal degeneration 8.0 SPATA7 RDH12 IMPDH1 GUCY2D CRX CRB1
48 leber congenital amaurosis 1 7.8 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRX
49 pathologic nystagmus 7.8 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRX
50 keratoconus 7.8 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRX

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 7:



Diseases related to Leber Congenital Amaurosis 7

Symptoms & Phenotypes for Leber Congenital Amaurosis 7

Human phenotypes related to Leber Congenital Amaurosis 7:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 visual impairment 31 HP:0000505
3 photophobia 31 HP:0000613
4 keratoconus 31 HP:0000563
5 pendular nystagmus 31 HP:0012043
6 undetectable electroretinogram 31 HP:0000550

Clinical features from OMIM:

613829

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 7:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 AIPL1 CRB1 CRX GUCY2D LCA5 RDH12
2 vision/eye MP:0005391 9.23 AIPL1 CRB1 CRX GUCY2D IMPDH1 LCA5

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:

40
Retina, Eye

Publications for Leber Congenital Amaurosis 7

Articles related to Leber Congenital Amaurosis 7:

(show all 14)
# Title Authors PMID Year
1
Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis. 56 6
12208271 2002
2
Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. 56 6
9931337 1999
3
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. 56 6
9537410 1998
4
Leber Congenital Amaurosis – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
20301475 2004
5
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview 6
30285347 2018
6
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 6
23105016 2013
7
Genetics and molecular basis of human peroxisome biogenesis disorders. 6
22871920 2012
8
Mutation discovered in a feline model of human congenital retinal blinding disease. 56
20053974 2010
9
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. 56
20006823 2009
10
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. 6
10384394 1999
11
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. 6
9398847 1997
12
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. 6
9398848 1997
13
Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. 56
9390562 1997
14
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. 61
30134391 2019

Variations for Leber Congenital Amaurosis 7

ClinVar genetic disease variations for Leber Congenital Amaurosis 7:

6 (show top 50) (show all 157) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRX CRX, 2-BP DEL, GLU168deletion Pathogenic 7419
2 CRX CRX, 1-BP DEL, GLY217deletion Pathogenic 7420
3 CRX NM_000554.6(CRX):c.529del (p.Ala177fs)deletion Pathogenic 65614 rs61748449 19:48342851-48342851 19:47839594-47839594
4 CRX NM_000554.6(CRX):c.520del (p.Ala174fs)deletion Pathogenic 99611 rs281865515 19:48342843-48342843 19:47839586-47839586
5 CRX NM_000554.6(CRX):c.122G>A (p.Arg41Gln)SNV Pathogenic/Likely pathogenic 7421 rs61748436 19:48339521-48339521 19:47836264-47836264
6 CRX NM_000554.6(CRX):c.268C>T (p.Arg90Trp)SNV Likely pathogenic 7422 rs104894673 19:48342592-48342592 19:47839335-47839335
7 CRX NM_000554.6(CRX):c.101-1G>TSNV Likely pathogenic 858053 19:48339499-48339499 19:47836242-47836242
8 CRX NM_000554.6(CRX):c.124G>A (p.Glu42Lys)SNV Likely pathogenic 216914 rs863224863 19:48339523-48339523 19:47836266-47836266
9 CRX NM_000554.6(CRX):c.565del (p.Ala189fs)deletion Likely pathogenic 599149 rs1568626289 19:48342889-48342889 19:47839632-47839632
10 CRX NM_000554.6(CRX):c.118C>T (p.Arg40Trp)SNV Conflicting interpretations of pathogenicity 864383 19:48339517-48339517 19:47836260-47836260
11 CRX NM_000554.6(CRX):c.594_606del (p.Ser199fs)deletion Conflicting interpretations of pathogenicity 839142 19:48342916-48342928 19:47839659-47839671
12 CRX NM_000554.6(CRX):c.460A>G (p.Thr154Ala)SNV Conflicting interpretations of pathogenicity 893436 19:48342784-48342784 19:47839527-47839527
13 CRX NM_000554.6(CRX):c.*1684G>ASNV Conflicting interpretations of pathogenicity 893631 19:48344908-48344908 19:47841651-47841651
14 CRX NM_000554.6(CRX):c.*2040G>ASNV Conflicting interpretations of pathogenicity 892854 19:48345264-48345264 19:47842007-47842007
15 CRX NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)SNV Conflicting interpretations of pathogenicity 99605 rs61748442 19:48342749-48342749 19:47839492-47839492
16 CRX NM_000554.6(CRX):c.549G>A (p.Gly183=)SNV Conflicting interpretations of pathogenicity 99613 rs61748451 19:48342873-48342873 19:47839616-47839616
17 CRX NM_000554.6(CRX):c.597C>T (p.Ser199=)SNV Conflicting interpretations of pathogenicity 99617 rs61748455 19:48342921-48342921 19:47839664-47839664
18 CRX NM_000554.6(CRX):c.100+3_100+5delinsTTAindel Conflicting interpretations of pathogenicity 422939 rs1064796109 19:48337803-48337805 19:47834546-47834548
19 CRX NM_000554.6(CRX):c.253-15G>ASNV Conflicting interpretations of pathogenicity 99600 rs145805694 19:48342562-48342562 19:47839305-47839305
20 CRX NM_000554.6(CRX):c.*16T>CSNV Conflicting interpretations of pathogenicity 893767 19:48343240-48343240 19:47839983-47839983
21 CRX NM_000554.6(CRX):c.*366C>TSNV Conflicting interpretations of pathogenicity 893798 19:48343590-48343590 19:47840333-47840333
22 CRX NM_000554.6(CRX):c.*117T>ASNV Conflicting interpretations of pathogenicity 892703 19:48343341-48343341 19:47840084-47840084
23 CRX NM_000554.6(CRX):c.*595C>TSNV Conflicting interpretations of pathogenicity 329715 rs111448395 19:48343819-48343819 19:47840562-47840562
24 CRX NM_000554.6(CRX):c.*2039C>TSNV Conflicting interpretations of pathogenicity 329752 rs189556251 19:48345263-48345263 19:47842006-47842006
25 CRX NM_000554.6(CRX):c.*2539C>TSNV Conflicting interpretations of pathogenicity 329764 rs146417527 19:48345763-48345763 19:47842506-47842506
26 CRX NM_000554.6(CRX):c.28C>G (p.His10Asp)SNV Conflicting interpretations of pathogenicity 329693 rs139340178 19:48337728-48337728 19:47834471-47834471
27 CRX NM_000554.6(CRX):c.*996C>GSNV Conflicting interpretations of pathogenicity 329732 rs550939154 19:48344220-48344220 19:47840963-47840963
28 CRX NM_000554.6(CRX):c.*2739G>ASNV Conflicting interpretations of pathogenicity 329770 rs149039830 19:48345963-48345963 19:47842706-47842706
29 CRX NM_000554.6(CRX):c.*2880T>CSNV Conflicting interpretations of pathogenicity 329775 rs142202442 19:48346104-48346104 19:47842847-47842847
30 CRX NM_000554.6(CRX):c.*1917G>ASNV Conflicting interpretations of pathogenicity 329749 rs557773336 19:48345141-48345141 19:47841884-47841884
31 CRX NM_000554.6(CRX):c.*6G>ASNV Conflicting interpretations of pathogenicity 329700 rs375770558 19:48343230-48343230 19:47839973-47839973
32 CRX NM_000554.6(CRX):c.*118C>ASNV Conflicting interpretations of pathogenicity 329702 rs543729483 19:48343342-48343342 19:47840085-47840085
33 CRX NM_000554.6(CRX):c.*767G>ASNV Conflicting interpretations of pathogenicity 329723 rs544037698 19:48343991-48343991 19:47840734-47840734
34 CRX NM_000554.6(CRX):c.*2137G>ASNV Conflicting interpretations of pathogenicity 329755 rs181823708 19:48345361-48345361 19:47842104-47842104
35 CRX NM_000554.6(CRX):c.*2785C>TSNV Uncertain significance 329772 rs886054560 19:48346009-48346009 19:47842752-47842752
36 CRX NM_000554.6(CRX):c.*2850G>ASNV Uncertain significance 329774 rs769789306 19:48346074-48346074 19:47842817-47842817
37 CRX NM_000554.6(CRX):c.*2889G>ASNV Uncertain significance 329776 rs886054561 19:48346113-48346113 19:47842856-47842856
38 CRX NM_000554.6(CRX):c.*839C>TSNV Uncertain significance 329726 rs541379131 19:48344063-48344063 19:47840806-47840806
39 CRX NM_000554.6(CRX):c.*908G>ASNV Uncertain significance 329729 rs886054554 19:48344132-48344132 19:47840875-47840875
40 CRX NM_000554.6(CRX):c.*683G>ASNV Uncertain significance 329718 rs867379668 19:48343907-48343907 19:47840650-47840650
41 CRX NM_000554.6(CRX):c.*756T>ASNV Uncertain significance 329722 rs886054553 19:48343980-48343980 19:47840723-47840723
42 CRX NM_000554.6(CRX):c.*1149G>ASNV Uncertain significance 329737 rs886054555 19:48344373-48344373 19:47841116-47841116
43 CRX NM_000554.6(CRX):c.*2573C>TSNV Uncertain significance 329766 rs886054559 19:48345797-48345797 19:47842540-47842540
44 CRX NM_000554.6(CRX):c.-55C>TSNV Uncertain significance 329691 rs886054543 19:48325248-48325248 19:47821991-47821991
45 CRX NM_000554.6(CRX):c.105C>A (p.Ala35=)SNV Uncertain significance 329696 rs886054545 19:48339504-48339504 19:47836247-47836247
46 CRX NM_000554.6(CRX):c.*234G>ASNV Uncertain significance 329704 rs754333326 19:48343458-48343458 19:47840201-47840201
47 CRX NM_000554.6(CRX):c.*809C>GSNV Uncertain significance 329725 rs574128797 19:48344033-48344033 19:47840776-47840776
48 CRX NM_000554.6(CRX):c.78G>A (p.Met26Ile)SNV Uncertain significance 329694 rs886054544 19:48337778-48337778 19:47834521-47834521
49 CRX NM_000554.6(CRX):c.857T>C (p.Leu286Pro)SNV Uncertain significance 329699 rs886054547 19:48343181-48343181 19:47839924-47839924
50 CRX NM_000554.6(CRX):c.*2113A>GSNV Uncertain significance 329754 rs555800382 19:48345337-48345337 19:47842080-47842080

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

73
# Symbol AA change Variation ID SNP ID
1 CRX p.Arg90Trp VAR_008714 rs104894673
2 CRX p.Lys88Asn VAR_063919

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

Cellular components related to Leber Congenital Amaurosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.16 SPATA7 GUCY2D
2 photoreceptor connecting cilium GO:0032391 8.96 SPATA7 LCA5
3 photoreceptor inner segment GO:0001917 8.8 RDH12 CRB1 AIPL1

Biological processes related to Leber Congenital Amaurosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.55 SPATA7 RDH12 GUCY2D CRX AIPL1
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 GUCY2D AIPL1
3 photoreceptor cell maintenance GO:0045494 9.26 SPATA7 RDH12 LCA5 CRB1
4 visual perception GO:0007601 9.1 SPATA7 RDH12 GUCY2D CRX CRB1 AIPL1

Sources for Leber Congenital Amaurosis 7

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