Leber Congenital Amaurosis 14 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leber Congenital Amaurosis 14

MalaCards integrated aliases for Leber Congenital Amaurosis 14:

Name: Leber Congenital Amaurosis 14 ⁵⁷ ¹¹ ⁷³ ²⁸ ¹² ⁵ ⁴³ ¹⁴ ⁷¹

Lca14 ⁵⁷ ¹¹ ⁷³

Retinitis Pigmentosa, Juvenile, Lrat-Related ²⁸ ⁵

Retinal Dystrophy, Early-Onset Severe, Lrat-Related ⁵

Severe Early-Onset Retinal Dystrophy Lrat-Related ⁷³

Retinitis Pigmentosa Juvenile Lrat-Related ⁷³

Retinal Dystrophy, Early-Onset Severe ⁵⁷

Leber Congenital Amaurosis, Type 14 ³⁸

Retinitis Pigmentosa, Juvenile ⁵⁷

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹¹ DOID:0110188

OMIM® ⁵⁷ 613341

OMIM Phenotypic Series ⁵⁷ PS204000

MeSH ⁴³ C567636 D057130

ICD10 ³¹ H35.5

MedGen ⁴⁰ C2750063 C2750064 C2750065

SNOMED-CT via HPO ⁶⁹ 13164000 161898004 1912002 more

UMLS ⁷¹ C2750063

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Summaries for Leber Congenital Amaurosis 14

OMIM®: ⁵⁷ Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. (613341) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 14, also known as lca14, is related to stargardt disease 1 and severe early-childhood-onset retinal dystrophy, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 14 is LRAT (Lecithin Retinol Acyltransferase), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. Affiliated tissues include retina, eye and bone, and related phenotypes are nystagmus and photophobia

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 LRAT gene on chromosome 4q31.

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Related Diseases for Leber Congenital Amaurosis 14

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

(show top 50) (show all 53)

#	Related Disease	Score	Top Affiliating Genes
1	stargardt disease 1	32.4	TULP1 RDH12
2	severe early-childhood-onset retinal dystrophy	31.8	SPATA7 RPE65 LRAT LCA5
3	leber congenital amaurosis 4	30.0	TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
4	retinal dystrophy, juvenile cataracts, and short stature syndrome	11.5
5	retinitis pigmentosa 14	11.2
6	hereditary retinal dystrophy	10.1	SPATA7 RPE65
7	degeneration of macula and posterior pole	10.0	RPE65 LRAT
8	microphthalmia, syndromic 9	10.0	RDH12 LRAT
9	gyrate atrophy of choroid and retina	10.0	RPE65 RDH12
10	enhanced s-cone syndrome	9.9	RPE65 AIPL1
11	choroidal dystrophy, central areolar, 1	9.9	RPE65 AIPL1
12	color blindness	9.9	RPE65 AIPL1
13	cone-rod dystrophy 13	9.9	SPATA7 IQCB1
14	nanophthalmos	9.9	TULP1 RPE65
15	retinoschisis 1, x-linked, juvenile	9.8	RPE65 AIPL1
16	leber congenital amaurosis 1	9.7	TULP1 RPE65 LRAT LCA5
17	pseudopapilledema	9.7	RPE65 RDH12 AIPL1
18	late-onset retinal degeneration	9.7	TULP1 RPE65 AIPL1
19	retinal vascular disease	9.7	RPE65 AIPL1
20	macular degeneration, age-related, 1	9.6	RPE65 RDH12 LRAT
21	nephronophthisis	9.6	SPATA7 LCA5 IQCB1
22	night blindness	9.6	TULP1 RPE65 RDH12 LRAT
23	fundus albipunctatus	9.6	TULP1 RPE65 RDH12 LRAT
24	leber congenital amaurosis 7	9.5	SPATA7 RDH12 LCA5 AIPL1
25	blood group, globoside system	9.3	TULP1 RPE65 RDH12 LRAT AIPL1
26	leber congenital amaurosis 6	9.2	TULP1 SPATA7 RDH12 LRAT LCA5 AIPL1
27	retinal degeneration	9.1	TULP1 SPATA7 RPE65 RDH12 LRAT AIPL1
28	coloboma of macula	9.1	RPE65 RDH12 LCA5 IQCB1 AIPL1
29	leber congenital amaurosis 12	9.0	SPATA7 RPE65 LCA5 KCNJ13 IQCB1 AIPL1
30	leber congenital amaurosis 8	9.0	TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
31	leber congenital amaurosis 9	9.0	TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
32	leber congenital amaurosis 2	9.0	TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
33	eye degenerative disease	8.9	TULP1 RPE65 RDH12 LRAT IQCB1 AIPL1
34	eye disease	8.9	TULP1 RPE65 RDH12 LRAT IQCB1 AIPL1
35	stargardt disease	8.7	TULP1 SPATA7 RPE65 RDH12 LRAT IQCB1
36	senior-loken syndrome 1	8.7	TULP1 SPATA7 RPE65 RDH12 LCA5 IQCB1
37	congenital stationary night blindness	8.7	TULP1 RPE65 RDH12 LRAT LCA5 IQCB1
38	achromatopsia	8.7	TULP1 SPATA7 RPE65 RDH12 LCA5 IQCB1
39	leber congenital amaurosis 15	8.7	TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
40	leber congenital amaurosis 11	8.7	TULP1 SPATA7 RDH12 LCA5 KCNJ13 IQCB1
41	bardet-biedl syndrome	8.7	TULP1 SPATA7 RPE65 RDH12 LCA5 IQCB1
42	cone dystrophy	8.5	TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
43	leber congenital amaurosis 3	8.5	TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
44	keratoconus	8.5	TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
45	usher syndrome	8.5	TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
46	joubert syndrome 1	8.5	TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
47	leber congenital amaurosis 16	8.5	TULP1 SPATA7 RPE65 RDH12 LCA5 KCNJ13
48	leber congenital amaurosis 10	8.5	TULP1 SPATA7 RPE65 RDH12 LCA5 KCNJ13
49	leber plus disease	8.3	TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
50	leber congenital amaurosis 13	8.3	TULP1 SPATA7 RPE65 RDH12 LRAT LCA5

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 14:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 14

Human phenotypes related to Leber Congenital Amaurosis 14:

³⁰ (show all 11)

#	Description	HPO Source Accession
1	nystagmus ³⁰	HP:0000639
2	photophobia ³⁰	HP:0000613
3	pallor ³⁰	HP:0000980
4	reduced visual acuity ³⁰	HP:0007663
5	nyctalopia ³⁰	HP:0000662
6	rod-cone dystrophy ³⁰	HP:0000510
7	optic disc pallor ³⁰	HP:0000543
8	falls ³⁰	HP:0002527
9	congenital blindness ³⁰	HP:0007875
10	undetectable electroretinogram ³⁰	HP:0000550
11	decreased light- and dark-adapted electroretinogram amplitude ³⁰	HP:0000654

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
nystagmus
photophobia
optic disc pallor
decreased visual acuity
night blindness
more

Clinical features from OMIM®:

613341 (Updated 08-Dec-2022)

UMLS symptoms related to Leber Congenital Amaurosis 14:

photophobia

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 14:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.5	AIPL1 LCA5 LRAT RDH12 RPE65 SPATA7
2	vision/eye	MP:0005391	9.23	AIPL1 IQCB1 LCA5 LRAT RDH12 RPE65

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Drugs & Therapeutics for Leber Congenital Amaurosis 14

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 14

Cochrane evidence based reviews: leber congenital amaurosis 14

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Genetic Tests for Leber Congenital Amaurosis 14

Genetic tests related to Leber Congenital Amaurosis 14:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 14 ²⁸	LRAT
2	Retinitis Pigmentosa, Juvenile, Lrat-Related ²⁸

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Anatomical Context for Leber Congenital Amaurosis 14

Organs/tissues related to Leber Congenital Amaurosis 14:

MalaCards : Retina, Eye, Bone

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Publications for Leber Congenital Amaurosis 14

Articles related to Leber Congenital Amaurosis 14:

#	Title	Authors	PMID	Year
1	Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. ⁵⁷ ⁵	den Hollander AI...Koenekoop RK	18055821	2007
2	Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. ⁵⁷ ⁵	Senechal A...Hamel CP	17011878	2006
3	Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. ⁵⁷ ⁵	Thompson DA...Gal A	11381255	2001
4	Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. ⁵	Sallum JMF...Belfort R	32865313	2020
5	Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. ⁵	Porto FBO...Chen R	29186038	2017
6	Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. ⁵⁷	Gu SM...Gal A	9326941	1997
7	Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. ⁶²	Di Iorio V...Simonelli F	29053603	2017
8	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 14

Genes related to Leber Congenital Amaurosis 14 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	1350.13	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)	11381255 17011878 18055821 (more) 32865313 29186038
2	SPATA7	Spermatogenesis Associated 7	Protein Coding	6.42	DISEASES inferred ¹⁴
3	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	6.36	DISEASES inferred ¹⁴
4	LCA5	Lebercilin LCA5	Protein Coding	6.27	DISEASES inferred ¹⁴
5	KCNJ13	Potassium Inwardly Rectifying Channel Subfamily J Member 13	Protein Coding	6.12	DISEASES inferred ¹⁴
6	RDH12	Retinol Dehydrogenase 12	Protein Coding	6.09	DISEASES inferred ¹⁴
7	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	5.97	DISEASES inferred ¹⁴
8	IQCB1	IQ Motif Containing B1	Protein Coding	5.92	DISEASES inferred ¹⁴
9	TULP1	TUB Like Protein 1	Protein Coding	5.9	DISEASES inferred ¹⁴

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Variations for Leber Congenital Amaurosis 14

ClinVar genetic disease variations for Leber Congenital Amaurosis 14:

⁵ (show top 50) (show all 91)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	LRAT	NM_004744.5(LRAT):c.525T>A (p.Ser175Arg)	SNV	Pathogenic	5334	rs104893848	GRCh37: 4:155666003-155666003 GRCh38: 4:154744851-154744851
2	LRAT	NM_004744.5(LRAT):c.400_401del (p.Lys134fs)	DEL	Pathogenic	5335	rs761717462	GRCh37: 4:155665875-155665876 GRCh38: 4:154744723-154744724
3	LRAT	NC_000004.12:g.(?_154740841)_(154749136_?)del	DEL	Pathogenic	978446		GRCh37: GRCh38: 4:154740841-154749136
4	LRAT	NM_004744.5(LRAT):c.554_555del (p.Val185fs)	MICROSAT	Pathogenic	978449	rs1732935012	GRCh37: 4:155670147-155670148 GRCh38: 4:154748995-154748996
5	LRAT	NM_004744.5(LRAT):c.504C>A (p.Cys168Ter)	SNV	Pathogenic	1172717		GRCh37: 4:155665982-155665982 GRCh38: 4:154744830-154744830
6	LRAT	NM_004744.5(LRAT):c.217_218del (p.Met73fs)	DEL	Pathogenic Pathogenic	5336	rs1560870755	GRCh37: 4:155665695-155665696 GRCh38: 4:154744543-154744544
7	LRAT	NM_004744.5(LRAT):c.224C>T (p.Pro75Leu)	SNV	Likely Pathogenic	1172716		GRCh37: 4:155665702-155665702 GRCh38: 4:154744550-154744550
8	LRAT	NM_004744.5(LRAT):c.346T>C (p.Phe116Leu)	SNV	Likely Pathogenic	802098	rs1578860322	GRCh37: 4:155665824-155665824 GRCh38: 4:154744672-154744672
9	LRAT	NM_004744.5(LRAT):c.299G>A (p.Gly100Asp)	SNV	Likely Pathogenic	842208	rs1396648864	GRCh37: 4:155665777-155665777 GRCh38: 4:154744625-154744625
10	LRAT	NM_004744.5(LRAT):c.149T>G (p.Val50Gly)	SNV	Likely Pathogenic	978450	rs1384466058	GRCh37: 4:155665627-155665627 GRCh38: 4:154744475-154744475
11	LRAT	NM_004744.5(LRAT):c.481T>C (p.Cys161Arg)	SNV	Likely Pathogenic	978447	rs1732848653	GRCh37: 4:155665959-155665959 GRCh38: 4:154744807-154744807
12	LRAT	NM_004744.5(LRAT):c.487C>T (p.His163Tyr)	SNV	Likely Pathogenic	978448	rs1010347467	GRCh37: 4:155665965-155665965 GRCh38: 4:154744813-154744813
13	LRAT	NM_004744.5(LRAT):c.316G>A (p.Ala106Thr)	SNV	Uncertain Significance	1065731		GRCh37: 4:155665794-155665794 GRCh38: 4:154744642-154744642
14	LRAT	NM_004744.5(LRAT):c.403G>T (p.Ala135Ser)	SNV	Uncertain Significance	347851	rs139819099	GRCh37: 4:155665881-155665881 GRCh38: 4:154744729-154744729
15	LRAT	NM_004744.5(LRAT):c.205C>T (p.Arg69Cys)	SNV	Uncertain Significance	347848	rs775838916	GRCh37: 4:155665683-155665683 GRCh38: 4:154744531-154744531
16	LRAT	NM_004744.5(LRAT):c.80C>G (p.Ser27Trp)	SNV	Uncertain Significance	899603	rs141705269	GRCh37: 4:155665558-155665558 GRCh38: 4:154744406-154744406
17	LRAT	NM_004744.5(LRAT):c.258G>A (p.Gly86=)	SNV	Uncertain Significance	347850	rs768389044	GRCh37: 4:155665736-155665736 GRCh38: 4:154744584-154744584
18	LRAT	NM_004744.5(LRAT):c.244A>G (p.Thr82Ala)	SNV	Uncertain Significance	347849	rs747900628	GRCh37: 4:155665722-155665722 GRCh38: 4:154744570-154744570
19	LRAT	NM_004744.5(LRAT):c.*2190C>T	SNV	Uncertain Significance	347868	rs886059169	GRCh37: 4:155672478-155672478 GRCh38: 4:154751326-154751326
20	LRAT	NM_004744.5(LRAT):c.*2418G>A	SNV	Uncertain Significance	347872	rs886059170	GRCh37: 4:155672706-155672706 GRCh38: 4:154751554-154751554
21	LRAT	NM_004744.5(LRAT):c.-2+7A>C	SNV	Uncertain Significance	347847	rs886059161	GRCh37: 4:155665381-155665381 GRCh38: 4:154744229-154744229
22	LRAT	NM_004744.5(LRAT):c.*2310A>T	SNV	Uncertain Significance	347870	rs368622887	GRCh37: 4:155672598-155672598 GRCh38: 4:154751446-154751446
23	LRAT	NM_004744.5(LRAT):c.*3264G>A	SNV	Uncertain Significance	347882	rs115053323	GRCh37: 4:155673552-155673552 GRCh38: 4:154752400-154752400
24	LRAT	NM_004744.5(LRAT):c.*3654T>C	SNV	Uncertain Significance	347886	rs191784588	GRCh37: 4:155673942-155673942 GRCh38: 4:154752790-154752790
25	LRAT	NM_004744.5(LRAT):c.*1281C>A	SNV	Uncertain Significance	347864	rs572110901	GRCh37: 4:155671569-155671569 GRCh38: 4:154750417-154750417
26	LRAT	NM_004744.5(LRAT):c.*3509C>A	SNV	Uncertain Significance	899855	rs1243976906	GRCh37: 4:155673797-155673797 GRCh38: 4:154752645-154752645
27	LRAT	NM_004744.5(LRAT):c.364A>G (p.Ile122Val)	SNV	Uncertain Significance	900735	rs907805484	GRCh37: 4:155665842-155665842 GRCh38: 4:154744690-154744690
28	LRAT	NM_004744.5(LRAT):c.*561A>G	SNV	Uncertain Significance	900814	rs1046022135	GRCh37: 4:155670849-155670849 GRCh38: 4:154749697-154749697
29	LRAT	NM_004744.5(LRAT):c.*624T>C	SNV	Uncertain Significance	900815	rs1732952951	GRCh37: 4:155670912-155670912 GRCh38: 4:154749760-154749760
30	LRAT	NM_004744.5(LRAT):c.*1936G>C	SNV	Uncertain Significance	900893	rs1011111572	GRCh37: 4:155672224-155672224 GRCh38: 4:154751072-154751072
31	LRAT	NM_004744.5(LRAT):c.*2064T>G	SNV	Uncertain Significance	900894	rs959693267	GRCh37: 4:155672352-155672352 GRCh38: 4:154751200-154751200
32	LRAT	NM_004744.5(LRAT):c.*2629G>A	SNV	Uncertain Significance	900961	rs112759047	GRCh37: 4:155672917-155672917 GRCh38: 4:154751765-154751765
33	LRAT	NM_004744.5(LRAT):c.*3714T>C	SNV	Uncertain Significance	901031	rs183640442	GRCh37: 4:155674002-155674002 GRCh38: 4:154752850-154752850
34	LRAT	NM_004744.5(LRAT):c.*3917A>G	SNV	Uncertain Significance	901584	rs1052203357	GRCh37: 4:155674205-155674205 GRCh38: 4:154753053-154753053
35	LRAT	NM_004744.5(LRAT):c.*81T>C	SNV	Uncertain Significance	902420	rs763149722	GRCh37: 4:155670369-155670369 GRCh38: 4:154749217-154749217
36	LRAT	NM_004744.5(LRAT):c.*2222G>C	SNV	Uncertain Significance	902562	rs940106140	GRCh37: 4:155672510-155672510 GRCh38: 4:154751358-154751358
37	LRAT	NM_004744.5(LRAT):c.*2322C>T	SNV	Uncertain Significance	902563	rs1046783706	GRCh37: 4:155672610-155672610 GRCh38: 4:154751458-154751458
38	LRAT	NM_004744.5(LRAT):c.*2347C>T	SNV	Uncertain Significance	902564	rs528985596	GRCh37: 4:155672635-155672635 GRCh38: 4:154751483-154751483
39	LRAT	NM_004744.5(LRAT):c.*2854A>G	SNV	Uncertain Significance	902616	rs745679958	GRCh37: 4:155673142-155673142 GRCh38: 4:154751990-154751990
40	LRAT	NM_004744.5(LRAT):c.*2855A>G	SNV	Uncertain Significance	902617	rs1733006832	GRCh37: 4:155673143-155673143 GRCh38: 4:154751991-154751991
41	LRAT	NM_004744.5(LRAT):c.*3072G>T	SNV	Uncertain Significance	902618	rs944531041	GRCh37: 4:155673360-155673360 GRCh38: 4:154752208-154752208
42	LRAT	NM_004744.5(LRAT):c.-15C>T	SNV	Uncertain Significance	903210	rs113018020	GRCh37: 4:155665361-155665361 GRCh38: 4:154744209-154744209
43	LRAT	NM_004744.5(LRAT):c.*98C>A	SNV	Uncertain Significance	903276	rs529360609	GRCh37: 4:155670386-155670386 GRCh38: 4:154749234-154749234
44	LRAT	NM_004744.5(LRAT):c.*138C>A	SNV	Uncertain Significance	899673	rs1241475769	GRCh37: 4:155670426-155670426 GRCh38: 4:154749274-154749274
45	LRAT	NM_004744.5(LRAT):c.*828G>C	SNV	Uncertain Significance	903351	rs1732961028	GRCh37: 4:155671116-155671116 GRCh38: 4:154749964-154749964
46	LRAT	NM_004744.5(LRAT):c.*1120C>T	SNV	Uncertain Significance	903352	rs745651761	GRCh37: 4:155671408-155671408 GRCh38: 4:154750256-154750256
47	LRAT	NM_004744.5(LRAT):c.*2417G>A	SNV	Uncertain Significance	903413	rs569981218	GRCh37: 4:155672705-155672705 GRCh38: 4:154751553-154751553
48	LRAT	NM_004744.5(LRAT):c.*3081A>C	SNV	Uncertain Significance	903464	rs779703148	GRCh37: 4:155673369-155673369 GRCh38: 4:154752217-154752217
49	LRAT	NM_004744.5(LRAT):c.*3163C>T	SNV	Uncertain Significance	903465	rs768550356	GRCh37: 4:155673451-155673451 GRCh38: 4:154752299-154752299
50	LRAT	NM_004744.5(LRAT):c.*3213C>T	SNV	Uncertain Significance	903466	rs1733014698	GRCh37: 4:155673501-155673501 GRCh38: 4:154752349-154752349

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 14:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	LRAT	p.Ser175Arg	VAR_018386	rs104893848

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Expression for Leber Congenital Amaurosis 14

Search GEO for disease gene expression data for Leber Congenital Amaurosis 14.

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Pathways for Leber Congenital Amaurosis 14

Pathways related to Leber Congenital Amaurosis 14 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Visual phototransduction ⁶⁶ Show member pathways Activation of the phototransduction cascade ⁶⁶ Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ menaquinol-4 biosynthesis II ⁶¹ Metabolism of fat-soluble vitamins ⁶⁶ Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ retinol biosynthesis ⁶¹ The phototransduction cascade ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ the visual cycle I (vertebrates) ⁶¹ Visual signal transduction: Rods ⁶¹ Vitamin E ⁶⁶	12.17	RPE65 RDH12 LRAT
2	Ciliary landscape ⁷⁴	11.94	SPATA7 LCA5 IQCB1
3	Visual Cycle in Retinal Rods ⁶⁴	11.55	RPE65 RDH12 LRAT
4	Diseases of the neuronal system ⁶⁶ Show member pathways Biosynthesis of A2E, implicated in retinal degradation ⁶⁶ Diseases associated with visual transduction ⁶⁶ Retinoid cycle disease events ⁶⁶ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	11.38	RPE65 RDH12 LRAT
5	Ciliopathies ⁷⁴	11.31	TULP1 SPATA7 LCA5 IQCB1
6	Retinol metabolism (TR) ²² Show member pathways Ifosfamide Pathway, Pharmacokinetics ⁶⁰	11.15	RPE65 RDH12 LRAT
7	Vitamin A and carotenoid metabolism ⁷⁴	11.06	RPE65 RDH12 LRAT
8	Visual signal transduction: Cones ⁶¹	10.69	RPE65 RDH12 LRAT
9	Retinol metabolism (WikiPathways) ⁷⁴	10.05	RPE65 RDH12 LRAT

Sources

GO Terms for Leber Congenital Amaurosis 14

Cellular components related to Leber Congenital Amaurosis 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor outer segment	GO:0001750	9.55	TULP1 SPATA7 IQCB1
2	photoreceptor inner segment	GO:0001917	9.43	TULP1 RDH12 AIPL1
3	photoreceptor connecting cilium	GO:0032391	9.1	SPATA7 LCA5 IQCB1

Biological processes related to Leber Congenital Amaurosis 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	retinol metabolic process	GO:0042572	9.85	RPE65 RDH12 LRAT
2	retina homeostasis	GO:0001895	9.8	TULP1 RPE65 AIPL1
3	detection of light stimulus involved in visual perception	GO:0050908	9.76	TULP1 RPE65
4	protein localization to photoreceptor outer segment	GO:1903546	9.73	TULP1 SPATA7
5	retinoid metabolic process	GO:0001523	9.73	LRAT RDH12 RPE65
6	visual perception	GO:0007601	9.73	TULP1 SPATA7 RPE65 RDH12 LRAT AIPL1
7	vitamin A metabolic process	GO:0006776	9.71	RPE65 LRAT
8	response to stimulus	GO:0050896	9.7	TULP1 SPATA7 RPE65 RDH12 LRAT AIPL1
9	photoreceptor cell maintenance	GO:0045494	9.32	TULP1 SPATA7 RDH12 LCA5 IQCB1

Sources

Sources for Leber Congenital Amaurosis 14

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

LCA14 MCID: LBR009 MIFTS: 43	Leber Congenital Amaurosis 14 (LCA14) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Leber Congenital Amaurosis 14 (LCA14)

Aliases & Classifications for Leber Congenital Amaurosis 14

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Diseases in the Leber Congenital Amaurosis 4 family:

Diseases related to Leber Congenital Amaurosis 14 via text searches within MalaCards or GeneCards Suite gene sharing:

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Pathways related to Leber Congenital Amaurosis 14 according to GeneCards Suite gene sharing:

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Cellular components related to Leber Congenital Amaurosis 14 according to GeneCards Suite gene sharing:

Biological processes related to Leber Congenital Amaurosis 14 according to GeneCards Suite gene sharing:

Sources for Leber Congenital Amaurosis 14