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

LCA14 MCID: LBR009 MIFTS: 41	Leber Congenital Amaurosis 14 (LCA14) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 ¹² ²⁰ ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Lca14 ⁵⁷ ¹² ²⁰ ⁷²

Retinitis Pigmentosa, Juvenile, Lrat-Related ²⁹ ⁶

Retinal Dystrophy, Early-Onset Severe, Lrat-Related ⁶

Severe Early-Onset Retinal Dystrophy Lrat-Related ⁷²

Retinitis Pigmentosa Juvenile Lrat-Related ⁷²

Retinal Dystrophy, Early-Onset Severe ⁵⁷

Leber Congenital Amaurosis, Type 14 ³⁹

Retinitis Pigmentosa, Juvenile ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

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

HPO:

³¹

leber congenital amaurosis 14:
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:0110188

OMIM® ⁵⁷ 613341

OMIM Phenotypic Series ⁵⁷ PS204000

MeSH ⁴⁴ D057130

ICD10 ³² H35.5

MedGen ⁴¹ C2750063 C2750064 C2750065

SNOMED-CT via HPO ⁶⁸ 13164000 161898004 1912002 more

UMLS ⁷⁰ 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 20-May-2021)

MalaCards based summary : Leber Congenital Amaurosis 14, also known as lca14, is related to severe early-childhood-onset retinal dystrophy and leber congenital amaurosis 4, 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 Cycle in Retinal Rods and the visual cycle I (vertebrates). Affiliated tissues include eye, retina and bone, and related phenotypes are nystagmus and photophobia

Disease Ontology : ¹² A Leber congenital amaurosis that has material basis in mutation in the LRAT gene on chromosome 4q31.

UniProtKB/Swiss-Prot : ⁷² Leber congenital amaurosis 14: 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 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 all 47)

#	Related Disease	Score	Top Affiliating Genes
1	severe early-childhood-onset retinal dystrophy	31.9	SPATA7 LRAT LCA5
2	leber congenital amaurosis 4	30.5	SPATA7 RDH12 LRAT LCA5 IQCB1 AIPL1
3	leber congenital amaurosis 3	30.3	SPATA7 RDH12 LRAT LCA5 IQCB1 AIPL1
4	stargardt disease 1	11.6
5	retinitis pigmentosa 14	11.2
6	retinal dystrophy, juvenile cataracts, and short stature syndrome	11.2
7	retinal ciliopathy	10.0	SPATA7 IQCB1
8	cone-rod dystrophy 13	10.0	SPATA7 IQCB1
9	cone-rod dystrophy 8	9.9	LCA5 AIPL1
10	joubert syndrome 3	9.9	SPATA7 IQCB1
11	choroidal dystrophy, central areolar, 1	9.8	SPATA7 AIPL1
12	microphthalmia, syndromic 9	9.8	RDH12 LRAT
13	pseudopapilledema	9.7	RDH12 AIPL1
14	pigmented paravenous chorioretinal atrophy	9.7	RDH12 AIPL1
15	nephronophthisis	9.6	SPATA7 LCA5 IQCB1
16	fundus albipunctatus	9.6	RDH12 LRAT
17	retinal disease	9.5	RDH12 LRAT AIPL1
18	leber congenital amaurosis 11	9.3	SPATA7 RDH12 LCA5 AIPL1
19	leber congenital amaurosis 7	9.3	SPATA7 RDH12 LCA5 AIPL1
20	leber congenital amaurosis 8	9.3	SPATA7 RDH12 LCA5 AIPL1
21	leber congenital amaurosis 6	9.3	SPATA7 RDH12 LCA5 AIPL1
22	usher syndrome, type iiia	9.3	RDH12 LRAT LCA5 AIPL1
23	pathologic nystagmus	9.3	SPATA7 RDH12 LCA5 AIPL1
24	retinal degeneration	9.3	SPATA7 RDH12 LRAT AIPL1
25	eye degenerative disease	9.3	RDH12 LRAT IQCB1 AIPL1
26	achromatopsia	9.3	SPATA7 RDH12 IQCB1 AIPL1
27	congenital stationary night blindness	9.2	RDH12 LRAT IQCB1 AIPL1
28	leber congenital amaurosis 5	9.1	SPATA7 RDH12 LRAT LCA5 AIPL1
29	leber congenital amaurosis 9	9.1	SPATA7 RDH12 LRAT LCA5 AIPL1
30	leber congenital amaurosis 2	9.1	SPATA7 RDH12 LRAT LCA5 AIPL1
31	stargardt disease	9.1	SPATA7 RDH12 LRAT LCA5 AIPL1
32	cone dystrophy	9.1	SPATA7 RDH12 LRAT LCA5 AIPL1
33	leber congenital amaurosis 12	9.1	SPATA7 RDH12 LCA5 KCNJ13 AIPL1
34	leber congenital amaurosis 16	9.1	SPATA7 RDH12 LCA5 KCNJ13 AIPL1
35	senior-loken syndrome 1	9.0	SPATA7 RDH12 LCA5 IQCB1 AIPL1
36	usher syndrome	9.0	RDH12 LRAT LCA5 IQCB1 AIPL1
37	bardet-biedl syndrome	9.0	SPATA7 RDH12 LCA5 IQCB1 AIPL1
38	joubert syndrome 1	9.0	SPATA7 RDH12 LCA5 IQCB1 AIPL1
39	keratoconus	8.8	SPATA7 RDH12 LRAT LCA5 IQCB1 AIPL1
40	cone-rod dystrophy 2	8.8	SPATA7 RDH12 LRAT LCA5 IQCB1 AIPL1
41	leber congenital amaurosis 15	8.8	SPATA7 RDH12 LCA5 KCNJ13 IQCB1 AIPL1
42	leber congenital amaurosis 13	8.8	SPATA7 RDH12 LCA5 KCNJ13 IQCB1 AIPL1
43	leber congenital amaurosis 10	8.8	SPATA7 RDH12 LCA5 KCNJ13 IQCB1 AIPL1
44	leber congenital amaurosis 1	8.6	SPATA7 RDH12 LRAT LCA5 KCNJ13 IQCB1
45	leber plus disease	8.6	SPATA7 RDH12 LRAT LCA5 KCNJ13 IQCB1
46	fundus dystrophy	8.5	SPATA7 RDH12 LRAT LCA5 KCNJ13 IQCB1
47	retinitis pigmentosa	8.5	SPATA7 RDH12 LRAT LCA5 KCNJ13 IQCB1

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:

³¹ (show all 11)

#	Description	HPO Source Accession
1	nystagmus ³¹	HP:0000639
2	photophobia ³¹	HP:0000613
3	pallor ³¹	HP:0000980
4	reduced visual acuity ³¹	HP:0007663
5	nyctalopia ³¹	HP:0000662
6	rod-cone dystrophy ³¹	HP:0000510
7	optic disc pallor ³¹	HP:0000543
8	falls ³¹	HP:0002527
9	congenital blindness ³¹	HP:0007875
10	decreased light- and dark-adapted electroretinogram amplitude ³¹	HP:0000654
11	undetectable electroretinogram ³¹	HP:0000550

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

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

Clinical features from OMIM®:

613341 (Updated 20-May-2021)

UMLS symptoms related to Leber Congenital Amaurosis 14:

photophobia

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 14:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye	MP:0005391	9.02	AIPL1 LCA5 LRAT RDH12 SPATA7

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Drugs & Therapeutics for Leber Congenital Amaurosis 14

Search Clinical Trials , NIH Clinical Center for 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 ²⁹	LRAT
2	Retinitis Pigmentosa, Juvenile, Lrat-Related ²⁹

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Anatomical Context for Leber Congenital Amaurosis 14

MalaCards organs/tissues related to Leber Congenital Amaurosis 14:

⁴⁰

Eye, Retina, 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 ⁶	den Hollander AI...Koenekoop RK	18055821	2007
2	Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. ⁵⁷ ⁶	Senechal A...Hamel CP	17011878	2006
3	Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. ⁵⁷ ⁶	Thompson DA...Gal A	11381255	2001
4	Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. ⁵⁷	Gu SM...Gal A	9326941	1997
5	Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. ⁶¹	Di Iorio V...Simonelli F	29053603	2017
6	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 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	1361.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)	11381255
2	SPATA7	Spermatogenesis Associated 7	Protein Coding	7.06	DISEASES inferred ¹⁵
3	LCA5	Lebercilin LCA5	Protein Coding	6.9	DISEASES inferred ¹⁵
4	KCNJ13	Potassium Inwardly Rectifying Channel Subfamily J Member 13	Protein Coding	6.84	DISEASES inferred ¹⁵
5	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	6.63	DISEASES inferred ¹⁵
6	RDH12	Retinol Dehydrogenase 12	Protein Coding	6.61	DISEASES inferred ¹⁵
7	IQCB1	IQ Motif Containing B1	Protein Coding	6.59	DISEASES inferred ¹⁵

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Variations for Leber Congenital Amaurosis 14

ClinVar genetic disease variations for Leber Congenital Amaurosis 14:

⁶ (show top 50) (show all 88)

#	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)	Deletion	Pathogenic	5335	rs761717462	GRCh37: 4:155665875-155665876 GRCh38: 4:154744723-154744724
3	LRAT	NM_004744.5(LRAT):c.217_218del (p.Met73fs)	Deletion	Pathogenic	5336	rs1560870755	GRCh37: 4:155665695-155665696 GRCh38: 4:154744543-154744544
4	LRAT	NM_004744.5(LRAT):c.217_218del (p.Met73fs)	Deletion	Pathogenic	5336	rs1560870755	GRCh37: 4:155665695-155665696 GRCh38: 4:154744543-154744544
5	LRAT	NC_000004.12:g.(?_154740841)_(154749136_?)del	Deletion	Pathogenic	978446		GRCh37: GRCh38: 4:154740841-154749136
6	LRAT	NM_004744.5(LRAT):c.554_555del (p.Val185fs)	Microsatellite	Pathogenic	978449		GRCh37: 4:155670147-155670148 GRCh38: 4:154748995-154748996
7	LRAT	NM_004744.5(LRAT):c.149T>G (p.Val50Gly)	SNV	Likely pathogenic	978450		GRCh37: 4:155665627-155665627 GRCh38: 4:154744475-154744475
8	LRAT	NM_004744.5(LRAT):c.299G>A (p.Gly100Asp)	SNV	Likely pathogenic	842208		GRCh37: 4:155665777-155665777 GRCh38: 4:154744625-154744625
9	LRAT	NM_004744.5(LRAT):c.481T>C (p.Cys161Arg)	SNV	Likely pathogenic	978447		GRCh37: 4:155665959-155665959 GRCh38: 4:154744807-154744807
10	LRAT	NM_004744.5(LRAT):c.487C>T (p.His163Tyr)	SNV	Likely pathogenic	978448		GRCh37: 4:155665965-155665965 GRCh38: 4:154744813-154744813
11	LRAT	NM_004744.5(LRAT):c.*2453C>A	SNV	Uncertain significance	347873	rs886059171	GRCh37: 4:155672741-155672741 GRCh38: 4:154751589-154751589
12	LRAT	NM_004744.5(LRAT):c.205C>T (p.Arg69Cys)	SNV	Uncertain significance	347848	rs775838916	GRCh37: 4:155665683-155665683 GRCh38: 4:154744531-154744531
13	LRAT	NM_004744.5(LRAT):c.*2625A>G	SNV	Uncertain significance	347878	rs77071498	GRCh37: 4:155672913-155672913 GRCh38: 4:154751761-154751761
14	LRAT	NM_004744.5(LRAT):c.80C>G (p.Ser27Trp)	SNV	Uncertain significance	899603		GRCh37: 4:155665558-155665558 GRCh38: 4:154744406-154744406
15	LRAT	NM_004744.5(LRAT):c.*336C>T	SNV	Uncertain significance	899674		GRCh37: 4:155670624-155670624 GRCh38: 4:154749472-154749472
16	LRAT	NM_004744.5(LRAT):c.*495C>T	SNV	Uncertain significance	899675		GRCh37: 4:155670783-155670783 GRCh38: 4:154749631-154749631
17	LRAT	NM_004744.5(LRAT):c.*517G>A	SNV	Uncertain significance	899676		GRCh37: 4:155670805-155670805 GRCh38: 4:154749653-154749653
18	LRAT	NM_004744.5(LRAT):c.*1390G>A	SNV	Uncertain significance	899736		GRCh37: 4:155671678-155671678 GRCh38: 4:154750526-154750526
19	LRAT	NM_004744.5(LRAT):c.*1418C>G	SNV	Uncertain significance	899737		GRCh37: 4:155671706-155671706 GRCh38: 4:154750554-154750554
20	LRAT	NM_004744.5(LRAT):c.*2458C>T	SNV	Uncertain significance	899798		GRCh37: 4:155672746-155672746 GRCh38: 4:154751594-154751594
21	LRAT	NM_004744.5(LRAT):c.*3509C>A	SNV	Uncertain significance	899855		GRCh37: 4:155673797-155673797 GRCh38: 4:154752645-154752645
22	LRAT	NM_004744.5(LRAT):c.364A>G (p.Ile122Val)	SNV	Uncertain significance	900735		GRCh37: 4:155665842-155665842 GRCh38: 4:154744690-154744690
23	LRAT	NM_004744.5(LRAT):c.*561A>G	SNV	Uncertain significance	900814		GRCh37: 4:155670849-155670849 GRCh38: 4:154749697-154749697
24	LRAT	NM_004744.5(LRAT):c.*624T>C	SNV	Uncertain significance	900815		GRCh37: 4:155670912-155670912 GRCh38: 4:154749760-154749760
25	LRAT	NM_004744.5(LRAT):c.*1936G>C	SNV	Uncertain significance	900893		GRCh37: 4:155672224-155672224 GRCh38: 4:154751072-154751072
26	LRAT	NM_004744.5(LRAT):c.*2064T>G	SNV	Uncertain significance	900894		GRCh37: 4:155672352-155672352 GRCh38: 4:154751200-154751200
27	LRAT	NM_004744.5(LRAT):c.*2629G>A	SNV	Uncertain significance	900961		GRCh37: 4:155672917-155672917 GRCh38: 4:154751765-154751765
28	LRAT	NM_004744.5(LRAT):c.*3714T>C	SNV	Uncertain significance	901031		GRCh37: 4:155674002-155674002 GRCh38: 4:154752850-154752850
29	LRAT	NM_004744.5(LRAT):c.*3917A>G	SNV	Uncertain significance	901584		GRCh37: 4:155674205-155674205 GRCh38: 4:154753053-154753053
30	LRAT	NM_004744.5(LRAT):c.476A>G (p.Asn159Ser)	SNV	Uncertain significance	902418		GRCh37: 4:155665954-155665954 GRCh38: 4:154744802-154744802
31	LRAT	NM_004744.5(LRAT):c.519G>T (p.Pro173=)	SNV	Uncertain significance	902419		GRCh37: 4:155665997-155665997 GRCh38: 4:154744845-154744845
32	LRAT	NM_004744.5(LRAT):c.*81T>C	SNV	Uncertain significance	902420		GRCh37: 4:155670369-155670369 GRCh38: 4:154749217-154749217
33	LRAT	NM_004744.5(LRAT):c.*2222G>C	SNV	Uncertain significance	902562		GRCh37: 4:155672510-155672510 GRCh38: 4:154751358-154751358
34	LRAT	NM_004744.5(LRAT):c.*2322C>T	SNV	Uncertain significance	902563		GRCh37: 4:155672610-155672610 GRCh38: 4:154751458-154751458
35	LRAT	NM_004744.5(LRAT):c.*2347C>T	SNV	Uncertain significance	902564		GRCh37: 4:155672635-155672635 GRCh38: 4:154751483-154751483
36	LRAT	NM_004744.5(LRAT):c.*2854A>G	SNV	Uncertain significance	902616		GRCh37: 4:155673142-155673142 GRCh38: 4:154751990-154751990
37	LRAT	NM_004744.5(LRAT):c.*2855A>G	SNV	Uncertain significance	902617		GRCh37: 4:155673143-155673143 GRCh38: 4:154751991-154751991
38	LRAT	NM_004744.5(LRAT):c.*3072G>T	SNV	Uncertain significance	902618		GRCh37: 4:155673360-155673360 GRCh38: 4:154752208-154752208
39	LRAT	NM_004744.5(LRAT):c.-15C>T	SNV	Uncertain significance	903210		GRCh37: 4:155665361-155665361 GRCh38: 4:154744209-154744209
40	LRAT	NM_004744.5(LRAT):c.*98C>A	SNV	Uncertain significance	903276		GRCh37: 4:155670386-155670386 GRCh38: 4:154749234-154749234
41	LRAT	NM_004744.5(LRAT):c.*138C>A	SNV	Uncertain significance	899673		GRCh37: 4:155670426-155670426 GRCh38: 4:154749274-154749274
42	LRAT	NM_004744.5(LRAT):c.*828G>C	SNV	Uncertain significance	903351		GRCh37: 4:155671116-155671116 GRCh38: 4:154749964-154749964
43	LRAT	NM_004744.5(LRAT):c.*1120C>T	SNV	Uncertain significance	903352		GRCh37: 4:155671408-155671408 GRCh38: 4:154750256-154750256
44	LRAT	NM_004744.5(LRAT):c.*2417G>A	SNV	Uncertain significance	903413		GRCh37: 4:155672705-155672705 GRCh38: 4:154751553-154751553
45	LRAT	NM_004744.5(LRAT):c.*3081A>C	SNV	Uncertain significance	903464		GRCh37: 4:155673369-155673369 GRCh38: 4:154752217-154752217
46	LRAT	NM_004744.5(LRAT):c.*3163C>T	SNV	Uncertain significance	903465		GRCh37: 4:155673451-155673451 GRCh38: 4:154752299-154752299
47	LRAT	NM_004744.5(LRAT):c.*3213C>T	SNV	Uncertain significance	903466		GRCh37: 4:155673501-155673501 GRCh38: 4:154752349-154752349
48	LRAT	NM_004744.5(LRAT):c.*3263C>T	SNV	Uncertain significance	903467		GRCh37: 4:155673551-155673551 GRCh38: 4:154752399-154752399
49	LRAT	NM_004744.5(LRAT):c.*3980T>C	SNV	Uncertain significance	347893	rs191125324	GRCh37: 4:155674268-155674268 GRCh38: 4:154753116-154753116
50	LRAT	NM_004744.5(LRAT):c.*1585T>G	SNV	Uncertain significance	347866	rs886059168	GRCh37: 4:155671873-155671873 GRCh38: 4:154750721-154750721

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

⁷²

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

Sources

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 Cycle in Retinal Rods ⁶³	11.13	RDH12 LRAT
2	the visual cycle I (vertebrates) ¹ Show member pathways retinol biosynthesis ¹ The canonical retinoid cycle in rods (twilight vision) ⁶⁵	10.7	RDH12 LRAT
3	Vitamin A and Carotenoid Metabolism ¹	10.27	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	axoneme	GO:0005930	9.26	SPATA7 LCA5
2	photoreceptor outer segment	GO:0001750	9.16	SPATA7 IQCB1
3	photoreceptor inner segment	GO:0001917	8.96	RDH12 AIPL1
4	photoreceptor connecting cilium	GO:0032391	8.8	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	response to stimulus	GO:0050896	9.46	SPATA7 RDH12 LRAT AIPL1
2	retinoid metabolic process	GO:0001523	9.32	RDH12 LRAT
3	retinol metabolic process	GO:0042572	9.26	RDH12 LRAT
4	visual perception	GO:0007601	9.26	SPATA7 RDH12 LRAT AIPL1
5	photoreceptor cell maintenance	GO:0045494	8.92	SPATA7 RDH12 LCA5 IQCB1

Sources

Sources for Leber Congenital Amaurosis 14

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

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Leber Congenital Amaurosis 14 (LCA14)

Aliases & Classifications for Leber Congenital Amaurosis 14

MalaCards integrated aliases for Leber Congenital Amaurosis 14:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis 14

Related Diseases for Leber Congenital Amaurosis 14

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:

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

Symptoms & Phenotypes for Leber Congenital Amaurosis 14

Human phenotypes related to Leber Congenital Amaurosis 14:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Leber Congenital Amaurosis 14:

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 14:

Drugs & Therapeutics for Leber Congenital Amaurosis 14

Genetic Tests for Leber Congenital Amaurosis 14

Genetic tests related to Leber Congenital Amaurosis 14:

Anatomical Context for Leber Congenital Amaurosis 14

MalaCards organs/tissues related to Leber Congenital Amaurosis 14:

Publications for Leber Congenital Amaurosis 14

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Genes for Leber Congenital Amaurosis 14

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

Variations for Leber Congenital Amaurosis 14

ClinVar genetic disease variations for Leber Congenital Amaurosis 14:

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

Expression for Leber Congenital Amaurosis 14

Pathways for Leber Congenital Amaurosis 14

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

GO Terms for Leber Congenital Amaurosis 14

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