Leber Congenital Amaurosis 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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. (613829) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 7, also known as lca7, is related to leber plus disease and severe early-childhood-onset retinal dystrophy. An important gene associated with Leber Congenital Amaurosis 7 is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Ciliopathies. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and visual impairment

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ A Leber congenital amaurosis that has material basis in mutation in the CRX gene on chromosome 19q13.

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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 64)

#	Related Disease	Score	Top Affiliating Genes
1	leber plus disease	27.9	SPATA7 RDH12 LCA5 GUCY2D CRX CRB1
2	severe early-childhood-onset retinal dystrophy	10.0	SPATA7 LCA5
3	gapo syndrome	9.9	CRB1 AIPL1
4	retinitis pigmentosa 12	9.9	CRB1 AIPL1
5	retinal cone dystrophy 1	9.9	GUCY2D CRX
6	chorioretinal scar	9.9	RDH12 CRB1
7	partial central choroid dystrophy	9.9	GUCY2D CRX
8	degeneration of macula and posterior pole	9.9	CRX CRB1
9	hereditary choroidal atrophy	9.9	GUCY2D CRX
10	usher syndrome, type iia	9.9	CRB1 AIPL1
11	cone-rod dystrophy 17	9.8	GUCY2D AIPL1
12	cone-rod dystrophy 3	9.8	GUCY2D CRX
13	occult macular dystrophy	9.8	GUCY2D CRX
14	retinitis pigmentosa 38	9.8	GUCY2D AIPL1
15	stargardt disease 1	9.7	RDH12 CRX CRB1
16	enophthalmos	9.7	GUCY2D CRB1
17	choroid disease	9.7	GUCY2D CRB1
18	blood group, globoside system	9.7	RDH12 CRB1 AIPL1
19	vitelliform macular dystrophy	9.6	GUCY2D CRX CRB1
20	pigmented paravenous chorioretinal atrophy	9.6	GUCY2D CRB1 AIPL1
21	refractive error	9.6	GUCY2D CRB1
22	retinal disease	9.6	GUCY2D CRX CRB1
23	physical disorder	9.6	GUCY2D CRB1 AIPL1
24	hereditary retinal dystrophy	9.6	SPATA7 GUCY2D CRB1
25	leber congenital amaurosis 14	9.5	SPATA7 RDH12 LCA5 AIPL1
26	leber congenital amaurosis 13	9.5	SPATA7 RDH12 LCA5 AIPL1
27	usher syndrome type 2	9.5	GUCY2D CRB1
28	leber congenital amaurosis 1	9.5	LCA5 GUCY2D CRX CRB1
29	enhanced s-cone syndrome	9.4	GUCY2D CRX CRB1 AIPL1
30	choroidal dystrophy, central areolar, 1	9.4	GUCY2D CRX CRB1 AIPL1
31	color blindness	9.4	GUCY2D CRX CRB1 AIPL1
32	late-onset retinal degeneration	9.4	GUCY2D CRX CRB1 AIPL1
33	leber congenital amaurosis 12	9.4	SPATA7 LCA5 GUCY2D AIPL1
34	retinoschisis 1, x-linked, juvenile	9.4	GUCY2D CRX CRB1 AIPL1
35	night blindness	9.3	RDH12 GUCY2D CRX CRB1
36	fundus albipunctatus	9.3	RDH12 GUCY2D CRX CRB1
37	macular degeneration, age-related, 1	9.3	RDH12 GUCY2D CRX CRB1
38	pseudopapilledema	9.1	RDH12 GUCY2D CRX CRB1 AIPL1
39	leber congenital amaurosis 15	9.1	SPATA7 RDH12 LCA5 GUCY2D AIPL1
40	eye degenerative disease	9.1	RDH12 GUCY2D CRX CRB1 AIPL1
41	eye disease	9.1	RDH12 GUCY2D CRX CRB1 AIPL1
42	coloboma of macula	8.9	RDH12 LCA5 GUCY2D CRX CRB1 AIPL1
43	congenital stationary night blindness	8.9	RDH12 LCA5 GUCY2D CRX CRB1 AIPL1
44	stargardt disease	8.9	SPATA7 RDH12 GUCY2D CRX CRB1 AIPL1
45	leber congenital amaurosis 16	8.9	SPATA7 RDH12 LCA5 GUCY2D CRB1 AIPL1
46	leber congenital amaurosis 11	8.9	SPATA7 RDH12 LCA5 GUCY2D CRB1 AIPL1
47	retinal degeneration	8.8	SPATA7 RDH12 GUCY2D CRX CRB1 AIPL1
48	achromatopsia	8.7	SPATA7 RDH12 LCA5 GUCY2D CRX CRB1
49	leber congenital amaurosis 8	8.7	SPATA7 RDH12 LCA5 GUCY2D CRX CRB1
50	leber congenital amaurosis 6	8.7	SPATA7 RDH12 LCA5 GUCY2D CRX CRB1

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

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Symptoms & Phenotypes for Leber Congenital Amaurosis 7

Human phenotypes related to Leber Congenital Amaurosis 7:

³⁰ (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³⁰	Very rare (1%)	HP:0000639
2	visual impairment ³⁰	Very rare (1%)	HP:0000505
3	undetectable electroretinogram ³⁰	Very rare (1%)	HP:0000550
4	cataract ³⁰		HP:0000518
5	photophobia ³⁰		HP:0000613
6	keratoconus ³⁰		HP:0000563
7	pendular nystagmus ³⁰		HP:0012043

Clinical features from OMIM®:

613829 (Updated 08-Dec-2022)

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	pigmentation	MP:0001186	9.33	CRB1 CRX LCA5
3	vision/eye	MP:0005391	9.17	AIPL1 CRB1 CRX GUCY2D LCA5 RDH12

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Drugs & Therapeutics for Leber Congenital Amaurosis 7

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 7

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Genetic Tests for Leber Congenital Amaurosis 7

Genetic tests related to Leber Congenital Amaurosis 7:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 7 ²⁸	CRX

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Anatomical Context for Leber Congenital Amaurosis 7

Organs/tissues related to Leber Congenital Amaurosis 7:

MalaCards : Retina, Eye

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Publications for Leber Congenital Amaurosis 7

Articles related to Leber Congenital Amaurosis 7:

(show all 41)

#	Title	Authors	PMID	Year
1	Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis. ⁵⁷ ⁵	Nakamura M...Miyake Y	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. ⁵⁷ ⁵	Swaroop A...Sieving PA	9931337	1999
3	De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. ⁵⁷ ⁵	Freund CL...Stone EM	9537410	1998
4	A mutation in CRX causing pigmented paravenous retinochoroidal atrophy. ⁵	Oh JK...Tsang SH	32927963	2022
5	CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. ⁵	Yuan B...Bi W	32576985	2020
6	Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. ⁵	Sallum JMF...Belfort R	32865313	2020
7	Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. ⁵	Xu K...Li Y	31630094	2020
8	Whole-genome sequencing of patients with rare diseases in a national health system. ⁵	Turro E...Ouwehand WH	32581362	2020
9	Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association. ⁵	Fujinami-Yokokawa Y...Japan Eye Genetics Consortium	32533067	2020
10	Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis. ⁵	Yi Z...Zhang Q	31626798	2019
11	Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy. ⁵	Chapi M...Daftarian N	31215831	2019
12	Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. ⁵	Jespersgaard C...Gronskov K	30718709	2019
13	Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population. ⁵	Maeda A...Takahashi M	29785639	2018
14	Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families. ⁵	Martin-Merida I...Ayuso C	29847639	2018
15	Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. ⁵	Birtel J...Charbel Issa P	29555955	2018
16	Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. ⁵	Srikrupa NN...Soumittra N	29068479	2018
17	Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa. ⁵	Huang H...Yi X	29641573	2018
18	Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. ⁵	Birtel J...Charbel Issa P	30543658	2018
19	Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. ⁵	Carss KJ...Raymond FL	28041643	2017
20	Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. ⁵	Huang L...Zhang Q	26992781	2016
21	Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. ⁵	Bravo-Gil N...Antinolo G	27032803	2016
22	Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations. ⁵	Arai Y...Takahashi M	26161267	2015
23	A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree. ⁵	Lu QK...Zhang XN	26682157	2015
24	The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. ⁵	Hull S...Webster AR	25270190	2014
25	A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. ⁵	Yamamoto S...Bellen HJ	25259927	2014
26	Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. ⁵	Shanks ME...Nemeth AH	22968130	2013
27	Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. ⁵	Eisenberger T...Bolz HJ	24265693	2013
28	Mutation discovered in a feline model of human congenital retinal blinding disease. ⁵⁷	Menotti-Raymond M...Narfstrom K	20053974	2010
29	Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. ⁵⁷	Chung DC...Traboulsi EI	20006823	2009
30	Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. ⁵	Stone EM	17964524	2007
31	Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. ⁵	Ziviello C...Banfi S	15994872	2005
32	Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele. ⁵	Perrault I...Kaplan J	12843339	2003
33	Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy. ⁵	Chen S...Zack DJ	11971869	2002
34	Novel frameshift mutations in CRX associated with Leber congenital amaurosis. ⁵	Rivolta C...Dryja TP	11748859	2001
35	Visual phenotype in patients with Arg41Gln and ala196+1bp mutations in the CRX gene. ⁵	Tzekov RT...Birch DG	10916183	2000
36	Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. ⁵	Swain PK...Zack DJ	9427255	1997
37	Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. ⁵⁷	Furukawa T...Cepko CL	9390562	1997
38	Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. ⁶²	Maltese PE...Iarossi G	35836572	2022
39	Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model. ⁶²	Chirco KR...Lamba DA	34653402	2021
40	PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. ⁶²	Zou X...Sui R	30134391	2019
41	Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶²	Weleber RG...Beattie C	20301475	2004

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Genes for Leber Congenital Amaurosis 7

Genes related to Leber Congenital Amaurosis 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CRX	Cone-Rod Homeobox	Protein Coding	1338.34	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	9427255 9537410 9931337 (more) 10916183 11748859 11971869 12208271 12843339 15994872 17964524 24265693 25259927 25270190 26161267 26682157 26992781 27032803 28041643 29068479 29641573 29785639 29847639 30543658 30718709 31215831 31626798 31630094 32533067 32576985 32581362 32865313 32927963 22968130 29555955
2	LCA5	Lebercilin LCA5	Protein Coding	6.52	DISEASES inferred ¹⁴
3	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	6.45	DISEASES inferred ¹⁴
4	SPATA7	Spermatogenesis Associated 7	Protein Coding	6.41	DISEASES inferred ¹⁴
5	RDH12	Retinol Dehydrogenase 12	Protein Coding	6.38	DISEASES inferred ¹⁴
6	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	6.27	DISEASES inferred ¹⁴
7	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	6.01	DISEASES inferred ¹⁴

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Variations for Leber Congenital Amaurosis 7

ClinVar genetic disease variations for Leber Congenital Amaurosis 7:

⁵ (show top 50) (show all 344)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CRX	NM_000554.6(CRX):c.520del (p.Ala174fs)	DEL	Pathogenic	99611	rs281865515	GRCh37: 19:48342843-48342843 GRCh38: 19:47839586-47839586
2	CRX	GRCh37/hg19 19q13.33(chr19:48328087-48339179)	CN LOSS	Pathogenic	915983		GRCh37: 19:48328087-48339179 GRCh38:
3	CRX	NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs)	DEL	Pathogenic	939164		GRCh37: 19:48342985-48346262 GRCh38: 19:47839728-47843005
4	CRX	NM_000554.6(CRX):c.489G>A (p.Trp163Ter)	SNV	Pathogenic	973898	rs1968166379	GRCh37: 19:48342813-48342813 GRCh38: 19:47839556-47839556
5	CRX	NM_000554.6(CRX):c.549del (p.Pro184fs)	DEL	Pathogenic	973901	rs1968167603	GRCh37: 19:48342871-48342871 GRCh38: 19:47839614-47839614
6	CRX	NM_000554.6(CRX):c.570del (p.Tyr191fs)	DEL	Pathogenic	973902	rs1968168564	GRCh37: 19:48342890-48342890 GRCh38: 19:47839633-47839633
7	CRX	NM_000554.6(CRX):c.585C>A (p.Tyr195Ter)	SNV	Pathogenic	973903	rs373497612	GRCh37: 19:48342909-48342909 GRCh38: 19:47839652-47839652
8	CRX	NM_000554.6(CRX):c.695del (p.Pro232fs)	DEL	Pathogenic	191298	rs786205630	GRCh37: 19:48343017-48343017 GRCh38: 19:47839760-47839760
9	CRX	NM_000554.6(CRX):c.816del (p.Thr273fs)	DEL	Pathogenic	973904	rs1968173864	GRCh37: 19:48343137-48343137 GRCh38: 19:47839880-47839880
10	CRX	NM_000554.6(CRX):c.191del (p.Pro64fs)	DEL	Pathogenic	973905	rs1968117526	GRCh37: 19:48339588-48339588 GRCh38: 19:47836331-47836331
11	CRX	NM_000554.6(CRX):c.450del (p.Gly151fs)	DEL	Pathogenic	973941	rs1968165665	GRCh37: 19:48342774-48342774 GRCh38: 19:47839517-47839517
12	CRX	NM_000554.6(CRX):c.458del (p.Pro153fs)	DEL	Pathogenic	973942	rs1968165787	GRCh37: 19:48342779-48342779 GRCh38: 19:47839522-47839522
13	CRX	NC_000019.9:g.(?_48339500)_(48343224_?)del	DEL	Pathogenic	1071706		GRCh37: 19:48339500-48343224 GRCh38:
14	CRX	NC_000019.9:g.(?_48342985)_48346262del	DEL	Pathogenic	1071707		GRCh37: GRCh38:
15	CRX	NM_000554.6(CRX):c.564del (p.Ala189fs)	DEL	Pathogenic	1172711		GRCh37: 19:48342887-48342887 GRCh38: 19:47839630-47839630
16	CRX	NM_000554.6(CRX):c.119G>A (p.Arg40Gln)	SNV	Pathogenic	437959	rs771450991	GRCh37: 19:48339518-48339518 GRCh38: 19:47836261-47836261
17	CRX	NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)	DEL	Pathogenic	803571	rs1599991611	GRCh37: 19:48342824-48342825 GRCh38: 19:47839567-47839568
18	CRX	NM_000554.6(CRX):c.118C>T (p.Arg40Trp)	SNV	Pathogenic	864383	rs749738655	GRCh37: 19:48339517-48339517 GRCh38: 19:47836260-47836260
19	CRX	NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer)	DEL	Pathogenic	938600	rs1968160841	GRCh37: 19:48342585-48342598 GRCh38: 19:47839328-47839341
20	CRX	NM_000554.6(CRX):c.449C>G (p.Ser150Ter)	SNV	Pathogenic	218921	rs864309706	GRCh37: 19:48342773-48342773 GRCh38: 19:47839516-47839516
21	CRX	NM_000554.6(CRX):c.127C>T (p.Arg43Cys)	SNV	Pathogenic	636019	rs1437021651	GRCh37: 19:48339526-48339526 GRCh38: 19:47836269-47836269
22	CRX	NM_000554.6(CRX):c.447dup (p.Ser150fs)	DUP	Pathogenic	99607	rs61748444	GRCh37: 19:48342767-48342768 GRCh38: 19:47839510-47839511
23	CRX	NM_000554.6(CRX):c.512del (p.Leu171fs)	DEL	Pathogenic Pathogenic	973899	rs1968166909	GRCh37: 19:48342834-48342834 GRCh38: 19:47839577-47839577
24	CRX	NM_000554.6(CRX):c.239A>C (p.Glu80Ala)	SNV	Pathogenic	7416	rs104894671	GRCh37: 19:48339638-48339638 GRCh38: 19:47836381-47836381
25	CRX	NM_000554.6(CRX):c.152_153del (p.Leu51fs)	DEL	Pathogenic	944597	rs1968116898	GRCh37: 19:48339551-48339552 GRCh38: 19:47836294-47836295
26	CRX	NM_000554.6(CRX):c.128G>A (p.Arg43His)	SNV	Pathogenic	956064	rs771736389	GRCh37: 19:48339527-48339527 GRCh38: 19:47836270-47836270
27	CRX	NM_000554.6(CRX):c.571del (p.Tyr191fs)	DEL	Pathogenic	99614	rs61748452	GRCh37: 19:48342895-48342895 GRCh38: 19:47839638-47839638
28	CRX	NM_000554.6(CRX):c.503_504del (p.Glu168fs)	MICROSAT	Pathogenic	99609	rs61748446	GRCh37: 19:48342825-48342826 GRCh38: 19:47839568-47839569
29	CRX	NM_000554.6(CRX):c.650del (p.Gly217fs)	DEL	Pathogenic	99619	rs281865517	GRCh37: 19:48342973-48342973 GRCh38: 19:47839716-47839716
30	CRX	NM_000554.6(CRX):c.122G>A (p.Arg41Gln)	SNV	Pathogenic	7421	rs61748436	GRCh37: 19:48339521-48339521 GRCh38: 19:47836264-47836264
31	CRX	NM_000554.6(CRX):c.404del (p.Pro135fs)	DEL	Pathogenic	425192	rs1064797246	GRCh37: 19:48342726-48342726 GRCh38: 19:47839469-47839469
32	CRX	NM_000554.6(CRX):c.121C>T (p.Arg41Trp)	SNV	Pathogenic	7418	rs104894672	GRCh37: 19:48339520-48339520 GRCh38: 19:47836263-47836263
33	CRX	NM_000554.6(CRX):c.522_523dup (p.Gln175fs)	MICROSAT	Pathogenic	1184468		GRCh37: 19:48342843-48342844 GRCh38: 19:47839586-47839587
34	CRX	NM_000554.6(CRX):c.268C>T (p.Arg90Trp)	SNV	Pathogenic Uncertain Significance	7422	rs104894673	GRCh37: 19:48342592-48342592 GRCh38: 19:47839335-47839335
35	CRX	NM_000554.6(CRX):c.523C>T (p.Gln175Ter)	SNV	Pathogenic	973900	rs1968167093	GRCh37: 19:48342847-48342847 GRCh38: 19:47839590-47839590
36	CRX	NM_000554.6(CRX):c.663C>A (p.Tyr221Ter)	SNV	Likely Pathogenic	425193	rs1064797247	GRCh37: 19:48342987-48342987 GRCh38: 19:47839730-47839730
37	CRX	NM_000554.6(CRX):c.437_449del (p.Leu146fs)	DEL	Likely Pathogenic	866158	rs1968165080	GRCh37: 19:48342755-48342767 GRCh38: 19:47839498-47839510
38	CRX	NM_000554.6(CRX):c.766C>T (p.Gln256Ter)	SNV	Likely Pathogenic	861103	rs1968173024	GRCh37: 19:48343090-48343090 GRCh38: 19:47839833-47839833
39	CRX	NM_000554.6(CRX):c.101-1G>T	SNV	Likely Pathogenic	858053	rs1968115710	GRCh37: 19:48339499-48339499 GRCh38: 19:47836242-47836242
40	CRX	NM_000554.6(CRX):c.774T>A (p.Tyr258Ter)	SNV	Likely Pathogenic	1479901		GRCh37: 19:48343098-48343098 GRCh38: 19:47839841-47839841
41	CRX	NM_000554.6(CRX):c.565del (p.Ala189fs)	DEL	Likely Pathogenic	599149	rs1568626289	GRCh37: 19:48342889-48342889 GRCh38: 19:47839632-47839632
42	CRX	NM_000554.6(CRX):c.124G>A (p.Glu42Lys)	SNV	Likely Pathogenic	216914	rs863224863	GRCh37: 19:48339523-48339523 GRCh38: 19:47836266-47836266
43	CRX	NM_000554.6(CRX):c.*2880T>C	SNV	Uncertain Significance	329775	rs142202442	GRCh37: 19:48346104-48346104 GRCh38: 19:47842847-47842847
44	CRX	NM_000554.6(CRX):c.*809C>G	SNV	Uncertain Significance	329725	rs574128797	GRCh37: 19:48344033-48344033 GRCh38: 19:47840776-47840776
45	CRX	NM_000554.6(CRX):c.*2821G>A	SNV	Uncertain Significance	329773	rs571610746	GRCh37: 19:48346045-48346045 GRCh38: 19:47842788-47842788
46	CRX	NM_000554.6(CRX):c.*996C>G	SNV	Uncertain Significance	329732	rs550939154	GRCh37: 19:48344220-48344220 GRCh38: 19:47840963-47840963
47	CRX	NM_000554.6(CRX):c.*2573C>T	SNV	Uncertain Significance	329766	rs886054559	GRCh37: 19:48345797-48345797 GRCh38: 19:47842540-47842540
48	CRX	NM_000554.6(CRX):c.*2539C>T	SNV	Uncertain Significance	329764	rs146417527	GRCh37: 19:48345763-48345763 GRCh38: 19:47842506-47842506
49	CRX	NM_000554.6(CRX):c.*746T>C	SNV	Uncertain Significance	329721	rs886054552	GRCh37: 19:48343970-48343970 GRCh38: 19:47840713-47840713
50	CRX	NM_000554.6(CRX):c.-55C>T	SNV	Uncertain Significance	329691	rs886054543	GRCh37: 19:48325248-48325248 GRCh38: 19:47821991-47821991

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

Sources

Expression for Leber Congenital Amaurosis 7

Search GEO for disease gene expression data for Leber Congenital Amaurosis 7.

Sources

Pathways for Leber Congenital Amaurosis 7

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

#	Super pathways	Score	Top Affiliating Genes
1	Visual Cycle in Retinal Rods ⁶⁴	11.13	RDH12 GUCY2D
2	Ciliopathies ⁷⁴	10.85	SPATA7 LCA5 CRX
3	Visual signal transduction: Cones ⁶¹	10.32	RDH12 GUCY2D

Sources

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 connecting cilium	GO:0032391	9.56	SPATA7 LCA5
2	cell projection	GO:0042995	9.46	SPATA7 LCA5 GUCY2D CRB1
3	photoreceptor outer segment	GO:0001750	9.35	SPATA7 GUCY2D CRB1
4	photoreceptor inner segment	GO:0001917	9.1	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	9.7	SPATA7 RDH12 GUCY2D CRX AIPL1
2	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.56	GUCY2D AIPL1
3	photoreceptor cell maintenance	GO:0045494	9.56	SPATA7 RDH12 LCA5 CRB1
4	visual perception	GO:0007601	9.36	SPATA7 RDH12 GUCY2D CRX CRB1 AIPL1

Sources

Sources for Leber Congenital Amaurosis 7

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LCA7 MCID: LBR017 MIFTS: 41	Leber Congenital Amaurosis 7 (LCA7) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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Leber Congenital Amaurosis 7 (LCA7)

Aliases & Classifications for Leber Congenital Amaurosis 7

MalaCards integrated aliases for Leber Congenital Amaurosis 7:

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Diseases in the Leber Congenital Amaurosis 4 family:

Diseases related to Leber Congenital Amaurosis 7 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Expression for Leber Congenital Amaurosis 7

Pathways for Leber Congenital Amaurosis 7

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

GO Terms for Leber Congenital Amaurosis 7

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

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

Sources for Leber Congenital Amaurosis 7