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

LCA7 MCID: LBR017 MIFTS: 39	Leber Congenital Amaurosis 7 (LCA7) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Leber Congenital Amaurosis 7

MalaCards integrated aliases for Leber Congenital Amaurosis 7:

Name: Leber Congenital Amaurosis 7 ⁵⁷ ¹² ²⁰ ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Lca7 ⁵⁷ ¹² ²⁰ ⁷²

Leber Congenital Amaurosis, Type 7 ³⁹

Characteristics:

HPO:

³¹

leber congenital amaurosis 7:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹² DOID:0110333

OMIM® ⁵⁷ 613829

OMIM Phenotypic Series ⁵⁷ PS204000

MeSH ⁴⁴ D057130

ICD10 ³² H35.5

MedGen ⁴¹ C3151192

SNOMED-CT via HPO ⁶⁸ 128306009 193570009 246622003 more

UMLS ⁷⁰ C3151192

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Summaries for Leber Congenital Amaurosis 7

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 05-Apr-2021)

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 : ⁷² 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.

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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 66)

#	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 3	10.1	GUCY2D CRX
4	cone-rod dystrophy 12	10.1	GUCY2D AIPL1
5	yemenite deaf-blind hypopigmentation syndrome	10.0	GUCY2D AIPL1
6	retinitis pigmentosa 1	10.0	IMPDH1 CRX
7	color blindness	10.0	GUCY2D AIPL1
8	solar retinopathy	9.9	RDH12 CRB1
9	retinitis pigmentosa 25	9.9	LCA5 CRB1
10	pseudoretinitis pigmentosa	9.9	IMPDH1 CRB1
11	partial central choroid dystrophy	9.9	GUCY2D CRX AIPL1
12	hereditary choroidal atrophy	9.9	GUCY2D CRX AIPL1
13	severe early-childhood-onset retinal dystrophy	9.9	SPATA7 LCA5
14	chorioretinal scar	9.9	RDH12 CRB1
15	cone-rod dystrophy 8	9.9	LCA5 GUCY2D AIPL1
16	retinitis pigmentosa 63	9.9	SPATA7 CRX
17	optic nerve hypoplasia, bilateral	9.9	CRX CRB1
18	scotoma	9.9	GUCY2D CRB1
19	degeneration of macula and posterior pole	9.9	CRX CRB1
20	late-onset retinal degeneration	9.8	CRX CRB1
21	hereditary retinal dystrophy	9.8	GUCY2D CRX CRB1
22	retinoschisis 1, x-linked, juvenile	9.8	GUCY2D CRX CRB1
23	vitelliform macular dystrophy	9.8	GUCY2D CRX CRB1
24	stargardt disease 1	9.8	CRX CRB1
25	usher syndrome type 2	9.8	LCA5 GUCY2D CRB1
26	sensory system disease	9.7	GUCY2D CRX CRB1
27	nanophthalmos	9.7	LCA5 CRB1
28	fundus albipunctatus	9.5	RDH12 GUCY2D CRX CRB1
29	pseudopapilledema	9.5	RDH12 GUCY2D CRB1 AIPL1
30	pigmented paravenous chorioretinal atrophy	9.5	RDH12 GUCY2D CRB1 AIPL1
31	macular degeneration, age-related, 1	9.5	RDH12 GUCY2D CRX CRB1
32	choroidal dystrophy, central areolar, 1	9.5	SPATA7 GUCY2D CRX AIPL1
33	eye disease	9.5	RDH12 GUCY2D CRX CRB1
34	leber congenital amaurosis 14	9.4	SPATA7 RDH12 LCA5 AIPL1
35	leber congenital amaurosis 5	9.4	SPATA7 RDH12 LCA5 AIPL1
36	leber congenital amaurosis 13	9.4	SPATA7 RDH12 LCA5 AIPL1
37	congenital stationary night blindness	9.3	RDH12 GUCY2D CRX CRB1 AIPL1
38	usher syndrome, type iiia	9.3	RDH12 LCA5 IMPDH1 CRB1 AIPL1
39	leber congenital amaurosis 12	9.2	SPATA7 RDH12 LCA5 GUCY2D AIPL1
40	leber congenital amaurosis 11	9.2	SPATA7 RDH12 LCA5 IMPDH1 AIPL1
41	leber congenital amaurosis 15	9.2	SPATA7 RDH12 LCA5 IMPDH1 AIPL1
42	eye degenerative disease	9.0	RDH12 IMPDH1 GUCY2D CRX CRB1 AIPL1
43	retinal disease	9.0	RDH12 IMPDH1 GUCY2D CRX CRB1 AIPL1
44	achromatopsia	8.9	SPATA7 RDH12 GUCY2D CRX CRB1 AIPL1
45	usher syndrome	8.8	RDH12 LCA5 IMPDH1 GUCY2D CRX CRB1
46	cone dystrophy	8.7	SPATA7 RDH12 LCA5 GUCY2D CRX CRB1
47	bardet-biedl syndrome	8.7	SPATA7 RDH12 LCA5 GUCY2D CRX CRB1
48	leber congenital amaurosis 16	8.6	SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRB1
49	retinal degeneration	8.6	SPATA7 RDH12 IMPDH1 GUCY2D CRX CRB1
50	leber congenital amaurosis 1	8.4	SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRX

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:

³¹ (show all 6)

#	Description	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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 7:

⁴⁶

#	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

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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 ²⁹	CRX

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Anatomical Context for Leber Congenital Amaurosis 7

MalaCards organs/tissues related to Leber Congenital Amaurosis 7:

⁴⁰

Retina, Eye

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Publications for Leber Congenital Amaurosis 7

Articles related to Leber Congenital Amaurosis 7:

(show all 24)

#	Title	Authors	PMID	Year
1	Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis. ⁵⁷ ⁶	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. ⁶ ⁵⁷	Swaroop A...Sieving PA	9931337	1999
3	De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. ⁶ ⁵⁷	Freund CL...Stone EM	9537410	1998
4	CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. ⁶	Yuan B...Bi W	32576985	2020
5	Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy. ⁶	Chapi M...Daftarian N	31215831	2019
6	Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. ⁶	Srikrupa NN...Soumittra N	29068479	2018
7	Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. ⁶	Birtel J...Charbel Issa P	30543658	2018
8	Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. ⁶	Han J...Choi JR	28966547	2017
9	A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree. ⁶	Lu QK...Zhang XN	26682157	2015
10	The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. ⁶	Hull S...Webster AR	25270190	2014
11	A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. ⁶	Yamamoto S...Bellen HJ	25259927	2014
12	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. ⁶	Eisenberger T...Bolz HJ	24265693	2013
13	Mutation discovered in a feline model of human congenital retinal blinding disease. ⁵⁷	Menotti-Raymond M...Narfstrom K	20053974	2010
14	Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. ⁵⁷	Chung DC...Traboulsi EI	20006823	2009
15	Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. ⁶	Stone EM	17964524	2007
16	Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. ⁶	Ziviello C...Banfi S	15994872	2005
17	Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele. ⁶	Perrault I...Kaplan J	12843339	2003
18	Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. ⁶	Lines MA...MacDonald IM	12359607	2002
19	Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy. ⁶	Chen S...Zack DJ	11971869	2002
20	Novel frameshift mutations in CRX associated with Leber congenital amaurosis. ⁶	Rivolta C...Dryja TP	11748859	2001
21	Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. ⁶	Swain PK...Zack DJ	9427255	1997
22	Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. ⁵⁷	Furukawa T...Cepko CL	9390562	1997
23	PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. ⁶¹	Zou X...Sui R	30134391	2019
24	Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶¹	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	1352.44	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	9537410
2	LCA5	Lebercilin LCA5	Protein Coding	7.82	DISEASES inferred ¹⁵
3	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	7.68	DISEASES inferred ¹⁵
4	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	7.49	DISEASES inferred ¹⁵
5	RDH12	Retinol Dehydrogenase 12	Protein Coding	7.48	DISEASES inferred ¹⁵
6	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	7.3	DISEASES inferred ¹⁵
7	SPATA7	Spermatogenesis Associated 7	Protein Coding	7.22	DISEASES inferred ¹⁵
8	IMPDH1	Inosine Monophosphate Dehydrogenase 1	Protein Coding	7.06	DISEASES inferred ¹⁵

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Variations for Leber Congenital Amaurosis 7

ClinVar genetic disease variations for Leber Congenital Amaurosis 7:

⁶ (show top 50) (show all 221)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CRX	CRX, 2-BP DEL, GLU168	Deletion	Pathogenic	7419		GRCh37: GRCh38:
2	CRX	CRX, 1-BP DEL, GLY217	Deletion	Pathogenic	7420		GRCh37: GRCh38:
3	CRX	NM_000554.6(CRX):c.520del (p.Ala174fs)	Deletion	Pathogenic	99611	rs281865515	GRCh37: 19:48342843-48342843 GRCh38: 19:47839586-47839586
4	CRX	NM_000554.6(CRX):c.529del (p.Ala177fs)	Deletion	Pathogenic	65614	rs61748449	GRCh37: 19:48342851-48342851 GRCh38: 19:47839594-47839594
5	CRX	GRCh37/hg19 19q13.33(chr19:48328087-48339179)	copy number loss	Pathogenic	915983		GRCh37: 19:48328087-48339179 GRCh38:
6	CRX	NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer)	Deletion	Pathogenic	938600		GRCh37: 19:48342585-48342598 GRCh38: 19:47839328-47839341
7	CRX	NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs)	Deletion	Pathogenic	939164		GRCh37: 19:48342985-48346262 GRCh38: 19:47839728-47843005
8	CRX	NM_000554.6(CRX):c.152_153del (p.Leu51fs)	Deletion	Pathogenic	944597		GRCh37: 19:48339551-48339552 GRCh38: 19:47836294-47836295
9	CRX	NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)	Deletion	Pathogenic	803571	rs1599991611	GRCh37: 19:48342824-48342825 GRCh38: 19:47839567-47839568
10	CRX	NM_000554.6(CRX):c.447dup (p.Ser150fs)	Duplication	Pathogenic	99607	rs61748444	GRCh37: 19:48342767-48342768 GRCh38: 19:47839510-47839511
11	CRX	NM_000554.6(CRX):c.489G>A (p.Trp163Ter)	SNV	Pathogenic	973898		GRCh37: 19:48342813-48342813 GRCh38: 19:47839556-47839556
12	CRX	NM_000554.6(CRX):c.512del (p.Leu171fs)	Deletion	Pathogenic	973899		GRCh37: 19:48342834-48342834 GRCh38: 19:47839577-47839577
13	CRX	NM_000554.6(CRX):c.523C>T (p.Gln175Ter)	SNV	Pathogenic	973900		GRCh37: 19:48342847-48342847 GRCh38: 19:47839590-47839590
14	CRX	NM_000554.6(CRX):c.549del (p.Pro184fs)	Deletion	Pathogenic	973901		GRCh37: 19:48342871-48342871 GRCh38: 19:47839614-47839614
15	CRX	NM_000554.6(CRX):c.570del (p.Tyr191fs)	Deletion	Pathogenic	973902		GRCh37: 19:48342890-48342890 GRCh38: 19:47839633-47839633
16	CRX	NM_000554.6(CRX):c.585C>A (p.Tyr195Ter)	SNV	Pathogenic	973903		GRCh37: 19:48342909-48342909 GRCh38: 19:47839652-47839652
17	CRX	NM_000554.6(CRX):c.695del (p.Pro232fs)	Deletion	Pathogenic	191298	rs786205630	GRCh37: 19:48343017-48343017 GRCh38: 19:47839760-47839760
18	CRX	NM_000554.6(CRX):c.816del (p.Thr273fs)	Deletion	Pathogenic	973904		GRCh37: 19:48343137-48343137 GRCh38: 19:47839880-47839880
19	CRX	NM_000554.6(CRX):c.191del (p.Pro64fs)	Deletion	Pathogenic	973905		GRCh37: 19:48339588-48339588 GRCh38: 19:47836331-47836331
20	CRX	NM_000554.6(CRX):c.450del (p.Gly151fs)	Deletion	Pathogenic	973941		GRCh37: 19:48342774-48342774 GRCh38: 19:47839517-47839517
21	CRX	NM_000554.6(CRX):c.458del (p.Pro153fs)	Deletion	Pathogenic	973942		GRCh37: 19:48342779-48342779 GRCh38: 19:47839522-47839522
22	CRX	NM_000554.6(CRX):c.449C>G (p.Ser150Ter)	SNV	Pathogenic	218921	rs864309706	GRCh37: 19:48342773-48342773 GRCh38: 19:47839516-47839516
23	CRX	NM_000554.6(CRX):c.404del (p.Pro135fs)	Deletion	Pathogenic	425192	rs1064797246	GRCh37: 19:48342726-48342726 GRCh38: 19:47839469-47839469
24	CRX	NM_000554.6(CRX):c.122G>A (p.Arg41Gln)	SNV	Pathogenic	7421	rs61748436	GRCh37: 19:48339521-48339521 GRCh38: 19:47836264-47836264
25	CRX	NM_000554.6(CRX):c.268C>T (p.Arg90Trp)	SNV	Pathogenic	7422	rs104894673	GRCh37: 19:48342592-48342592 GRCh38: 19:47839335-47839335
26	CRX	NM_000554.6(CRX):c.565del (p.Ala189fs)	Deletion	Likely pathogenic	599149	rs1568626289	GRCh37: 19:48342889-48342889 GRCh38: 19:47839632-47839632
27	CRX	NM_000554.6(CRX):c.101-1G>T	SNV	Likely pathogenic	858053		GRCh37: 19:48339499-48339499 GRCh38: 19:47836242-47836242
28	CRX	NM_000554.6(CRX):c.124G>A (p.Glu42Lys)	SNV	Likely pathogenic	216914	rs863224863	GRCh37: 19:48339523-48339523 GRCh38: 19:47836266-47836266
29	CRX	NM_000554.6(CRX):c.*2880T>C	SNV	Uncertain significance	329775	rs142202442	GRCh37: 19:48346104-48346104 GRCh38: 19:47842847-47842847
30	CRX	NM_000554.6(CRX):c.*809C>G	SNV	Uncertain significance	329725	rs574128797	GRCh37: 19:48344033-48344033 GRCh38: 19:47840776-47840776
31	CRX	NM_000554.6(CRX):c.*2821G>A	SNV	Uncertain significance	329773	rs571610746	GRCh37: 19:48346045-48346045 GRCh38: 19:47842788-47842788
32	CRX	NM_000554.6(CRX):c.*996C>G	SNV	Uncertain significance	329732	rs550939154	GRCh37: 19:48344220-48344220 GRCh38: 19:47840963-47840963
33	CRX	NM_000554.6(CRX):c.*2573C>T	SNV	Uncertain significance	329766	rs886054559	GRCh37: 19:48345797-48345797 GRCh38: 19:47842540-47842540
34	CRX	NM_000554.6(CRX):c.*2539C>T	SNV	Uncertain significance	329764	rs146417527	GRCh37: 19:48345763-48345763 GRCh38: 19:47842506-47842506
35	CRX	NM_000554.6(CRX):c.*746T>C	SNV	Uncertain significance	329721	rs886054552	GRCh37: 19:48343970-48343970 GRCh38: 19:47840713-47840713
36	CRX	NM_000554.6(CRX):c.-55C>T	SNV	Uncertain significance	329691	rs886054543	GRCh37: 19:48325248-48325248 GRCh38: 19:47821991-47821991
37	CRX	NM_000554.6(CRX):c.*118C>A	SNV	Uncertain significance	329702	rs543729483	GRCh37: 19:48343342-48343342 GRCh38: 19:47840085-47840085
38	CRX	NM_000554.6(CRX):c.*907C>T	SNV	Uncertain significance	329728	rs559582292	GRCh37: 19:48344131-48344131 GRCh38: 19:47840874-47840874
39	CRX	NM_000554.6(CRX):c.*1759G>T	SNV	Uncertain significance	329746	rs886054558	GRCh37: 19:48344983-48344983 GRCh38: 19:47841726-47841726
40	CRX	NM_000554.6(CRX):c.*1149G>A	SNV	Uncertain significance	329737	rs886054555	GRCh37: 19:48344373-48344373 GRCh38: 19:47841116-47841116
41	CRX	NM_000554.6(CRX):c.597C>T (p.Ser199=)	SNV	Uncertain significance	99617	rs61748455	GRCh37: 19:48342921-48342921 GRCh38: 19:47839664-47839664
42	CRX	NM_000554.6(CRX):c.*2850G>A	SNV	Uncertain significance	329774	rs769789306	GRCh37: 19:48346074-48346074 GRCh38: 19:47842817-47842817
43	CRX	NM_000554.6(CRX):c.717C>A (p.Gly239=)	SNV	Uncertain significance	329698	rs886054546	GRCh37: 19:48343041-48343041 GRCh38: 19:47839784-47839784
44	CRX	NM_000554.6(CRX):c.*1309T>C	SNV	Uncertain significance	329740	rs886054556	GRCh37: 19:48344533-48344533 GRCh38: 19:47841276-47841276
45	CRX	NM_000554.6(CRX):c.*132G>A	SNV	Uncertain significance	329703	rs886054548	GRCh37: 19:48343356-48343356 GRCh38: 19:47840099-47840099
46	CRX	NM_000554.6(CRX):c.*683G>A	SNV	Uncertain significance	329718	rs867379668	GRCh37: 19:48343907-48343907 GRCh38: 19:47840650-47840650
47	CRX	NM_000554.6(CRX):c.857T>C (p.Leu286Pro)	SNV	Uncertain significance	329699	rs886054547	GRCh37: 19:48343181-48343181 GRCh38: 19:47839924-47839924
48	CRX	NM_000554.6(CRX):c.*436G>T	SNV	Uncertain significance	329711	rs759530877	GRCh37: 19:48343660-48343660 GRCh38: 19:47840403-47840403
49	CRX	NM_000554.6(CRX):c.*392G>A	SNV	Uncertain significance	329707	rs886054550	GRCh37: 19:48343616-48343616 GRCh38: 19:47840359-47840359
50	CRX	NM_000554.6(CRX):c.105C>A (p.Ala35=)	SNV	Uncertain significance	329696	rs886054545	GRCh37: 19:48339504-48339504 GRCh38: 19:47836247-47836247

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

⁷²

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

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Expression for Leber Congenital Amaurosis 7

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

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Pathways for Leber Congenital Amaurosis 7

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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	cell projection	GO:0042995	9.56	SPATA7 LCA5 GUCY2D CRB1
2	photoreceptor connecting cilium	GO:0032391	9.16	SPATA7 LCA5
3	photoreceptor outer segment	GO:0001750	9.13	SPATA7 GUCY2D CRB1
4	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

Sources for Leber Congenital Amaurosis 7

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Leber Congenital Amaurosis 7 (LCA7)

Aliases & Classifications for Leber Congenital Amaurosis 7

MalaCards integrated aliases for Leber Congenital Amaurosis 7:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis 7

Related Diseases for Leber Congenital Amaurosis 7

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:

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

Symptoms & Phenotypes for Leber Congenital Amaurosis 7

Human phenotypes related to Leber Congenital Amaurosis 7:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 7:

Drugs & Therapeutics for Leber Congenital Amaurosis 7

Genetic Tests for Leber Congenital Amaurosis 7

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

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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

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