Leber Congenital Amaurosis 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LCA9 MCID: LBR019 MIFTS: 45	Leber Congenital Amaurosis 9 (LCA9) 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 9

MalaCards integrated aliases for Leber Congenital Amaurosis 9:

Name: Leber Congenital Amaurosis 9 ⁵⁷ ¹² ²⁰ ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Lca9 ⁵⁷ ¹² ²⁰ ⁷²

Amaurosis Congenita of Leber, Type 9 ²⁰

Leber Congenital Amaurosis, Type 9 ³⁹

Leber Congenital Amaurosis Type 9 ²⁰

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
visual impairment is present at birth and is progressive

HPO:

³¹

leber congenital amaurosis 9:
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:0110005

OMIM® ⁵⁷ 608553

OMIM Phenotypic Series ⁵⁷ PS204000

MeSH ⁴⁴ D057130

ICD10 ³² H35.5

MedGen ⁴¹ C1837873

SNOMED-CT via HPO ⁶⁸ 246622003 258211005 302200001 more

UMLS ⁷⁰ C1837873

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Summaries for Leber Congenital Amaurosis 9

OMIM® : ⁵⁷ Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by Koenekoop et al., 2012). NMNAT1 (608700) mutations consistently cause severe and rapidly progressive macular degeneration leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve (Perrault et al., 2012). (608553) (Updated 05-Apr-2021)

MalaCards based summary : Leber Congenital Amaurosis 9, also known as lca9, is related to yemenite deaf-blind hypopigmentation syndrome and retinal degeneration. An important gene associated with Leber Congenital Amaurosis 9 is NMNAT1 (Nicotinamide Nucleotide Adenylyltransferase 1), and among its related pathways/superpathways are Drug metabolism - cytochrome P450 and Metabolism of fat-soluble vitamins. Affiliated tissues include retina, eye and bone, and related phenotypes are photophobia and nyctalopia

Disease Ontology : ¹² A Leber congenital amaurosis that has material basis in mutation in the NMNAT1 gene on chromosome 1p36.

UniProtKB/Swiss-Prot : ⁷² Leber congenital amaurosis 9: 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 9

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

(show top 50) (show all 89)

#	Related Disease	Score	Top Affiliating Genes
1	yemenite deaf-blind hypopigmentation syndrome	29.6	RPE65 GUCY2D CEP290 AIPL1
2	retinal degeneration	26.8	TULP1 SPATA7 RPE65 RDH12 NMNAT1 LRAT
3	leber plus disease	26.8	TULP1 SPATA7 RPE65 RDH12 NMNAT1 LRAT
4	fundus dystrophy	26.3	TULP1 SPATA7 RPE65 RDH12 NMNAT1 LRAT
5	solar retinopathy	10.2	RDH12 CRB1
6	cone-rod dystrophy 17	10.2	GUCY2D AIPL1
7	chorioretinal scar	10.2	RDH12 CRB1
8	cone-rod dystrophy 12	10.2	GUCY2D AIPL1
9	retinitis pigmentosa 25	10.1	LCA5 CRB1
10	retinitis pigmentosa 28	10.1	LCA5 CRX
11	simpson-golabi-behmel syndrome, type 2	10.1	LCA5 CEP290
12	retinitis pigmentosa 63	10.1	SPATA7 CRX
13	cone-rod dystrophy 8	10.1	LCA5 GUCY2D AIPL1
14	retinal ciliopathy	10.1	SPATA7 CEP290
15	cone-rod dystrophy 3	10.0	GUCY2D CRX
16	partial central choroid dystrophy	10.0	GUCY2D CRX AIPL1
17	hereditary choroidal atrophy	10.0	GUCY2D CRX AIPL1
18	enophthalmos	10.0	GUCY2D CEP290
19	pseudoretinitis pigmentosa	10.0	TULP1 IMPDH1 CRB1
20	stargardt disease 1	10.0	TULP1 CRX CRB1
21	microphthalmia, syndromic 9	9.9	RDH12 LRAT
22	3-methylglutaconic aciduria, type iii	9.9
23	inherited retinal disorder	9.9
24	retinitis pigmentosa 38	9.9	TULP1 RPE65
25	retinitis pigmentosa 1	9.9	IMPDH1 CRX
26	exotropia	9.9	RPE65 AIPL1
27	joubert syndrome 3	9.9	SPATA7 CEP290
28	bestrophinopathy, autosomal recessive	9.9	RPE65 CRB1
29	pigmented paravenous chorioretinal atrophy	9.9	RDH12 GUCY2D CRB1 AIPL1
30	joubert syndrome 9	9.8	RPE65 CEP290
31	macular dystrophy, dominant cystoid	9.8	TULP1 RPE65 CRB1
32	nanophthalmos	9.8	RPE65 LCA5 CRB1
33	color blindness	9.8	RPE65 GUCY2D AIPL1
34	retinitis pigmentosa 20	9.7	RPE65 LRAT
35	scotoma	9.7	RPE65 GUCY2D CRB1
36	coloboma of macula	9.7	NMNAT1 CRX CRB1 CEP290
37	leber congenital amaurosis / early-onset severe retinal dystrophy	9.7	RPE65 CEP290 AIPL1
38	retinitis	9.7	RPE65 IMPDH1 CRB1
39	optic nerve hypoplasia, bilateral	9.7	RPE65 CRX CRB1
40	degeneration of macula and posterior pole	9.7	RPE65 CRX CRB1
41	leber congenital amaurosis 11	9.7	SPATA7 RDH12 LCA5 IMPDH1 AIPL1
42	usher syndrome, type i	9.6	RPE65 IMPDH1 CRX
43	choroid disease	9.6	RPE65 GUCY2D CEP290
44	gyrate atrophy of choroid and retina	9.6	RPE65 LRAT
45	enhanced s-cone syndrome	9.6	RPE65 CRX
46	choroideremia	9.6	RPE65 GUCY2D CEP290
47	leber congenital amaurosis 14	9.6	SPATA7 RDH12 LRAT LCA5 AIPL1
48	aland island eye disease	9.5	RPE65 GUCY2D
49	hereditary retinal dystrophy	9.5	RPE65 GUCY2D CRX CRB1
50	leber congenital amaurosis 15	9.5	TULP1 SPATA7 RDH12 LCA5 IMPDH1 AIPL1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 9:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 9

Human phenotypes related to Leber Congenital Amaurosis 9:

³¹ (show all 8)

#	Description	HPO Frequency	HPO Source Accession
1	photophobia ³¹	occasional (7.5%)	HP:0000613
2	nyctalopia ³¹	occasional (7.5%)	HP:0000662
3	nystagmus ³¹		HP:0000639
4	optic atrophy ³¹		HP:0000648
5	optic disc pallor ³¹		HP:0000543
6	hypermetropia ³¹		HP:0000540
7	macular coloboma ³¹		HP:0001116
8	attenuation of retinal blood vessels ³¹		HP:0007843

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Eyes:
nystagmus
optic disc pallor
macular coloboma
attenuation of retinal blood vessels
hyperopia
more

Clinical features from OMIM®:

608553 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 9:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.93	AIPL1 CEP290 CRB1 CRX GUCY2D LCA5
2	pigmentation	MP:0001186	9.5	CEP290 CRB1 CRX LCA5 NMNAT1 RPE65
3	vision/eye	MP:0005391	9.44	AIPL1 CEP290 CRB1 CRX GUCY2D IMPDH1

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Drugs & Therapeutics for Leber Congenital Amaurosis 9

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 9

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Genetic Tests for Leber Congenital Amaurosis 9

Genetic tests related to Leber Congenital Amaurosis 9:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 9 ²⁹	NMNAT1

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Anatomical Context for Leber Congenital Amaurosis 9

MalaCards organs/tissues related to Leber Congenital Amaurosis 9:

⁴⁰

Retina, Eye, Bone

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Publications for Leber Congenital Amaurosis 9

Articles related to Leber Congenital Amaurosis 9:

(show all 22)

#	Title	Authors	PMID	Year
1	Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. ⁶¹ ⁵⁷ ⁶	Koenekoop RK...Chen R	22842230	2012
2	NMNAT1 mutations cause Leber congenital amaurosis. ⁶¹ ⁵⁷ ⁶	Falk MJ...Pierce EA	22842227	2012
3	Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. ⁶ ⁵⁷ ⁶¹	Keen TJ...Inglehearn CF	12734549	2003
4	Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. ⁵⁷ ⁶	Perrault I...Rozet JM	22842229	2012
5	Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. ⁶¹ ⁶	Coppieters F...De Baere E	26316326	2015
6	Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. ⁶¹ ⁶	Sasaki Y...Milbrandt J	26018082	2015
7	The genetic profile of Leber congenital amaurosis in an Australian cohort. ⁶	Thompson JA...Lamey TM	29178642	2017
8	Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. ⁶	Bravo-Gil N...Antinolo G	27032803	2016
9	Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. ⁶	Boulanger-Scemama E...Audo I	26103963	2015
10	Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. ⁶	Coppieters F...De Baere E	24625443	2014
11	Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. ⁶	Siemiatkowska AM...Cremers FP	24830548	2014
12	Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. ⁶	Siemiatkowska AM...Cremers FP	24940029	2014
13	Genomic stability in reprogramming. ⁶	Ronen D...Benvenisty N	23040504	2012
14	Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. ⁶	Chiang PW...Qi M	22842231	2012
15	Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity. ⁵⁷	Zhai RG...Bellen HJ	17132048	2006
16	Relative frequency of inherited retinal dystrophies in Brazil. ⁶¹	Motta FL...Sallum JMF	30374144	2018
17	NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. ⁶¹	Eblimit A...Chen R	29674119	2018
18	Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype. ⁶¹	Khan AO...Bolz HJ	28369829	2018
19	Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. ⁶¹	Greenwald SH...Pierce EA	27207593	2016
20	Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan. ⁶¹	McKibbin M...Inglehearn CF	20065226	2010
21	Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. ⁶¹	Ozgul RK...Ogus A	16082399	2006
22	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 9

Genes/enhancers related to Leber Congenital Amaurosis 9 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NMNAT1	Nicotinamide Nucleotide Adenylyltransferase 1	Protein Coding	1373.58	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Summaries Variants (show sections)	12734549 22842230
1	NMNAT1::GH01J009942	TSS distance: +0.4kb Elite enhancer with elite association with NMNAT1			Curated enhancer-disease association ²⁴ ( 27569544 )	26316326
2	LCA5	Lebercilin LCA5	Protein Coding	8.16	DISEASES inferred ¹⁵
3	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	7.79	DISEASES inferred ¹⁵
4	TULP1	TUB Like Protein 1	Protein Coding	7.68	DISEASES inferred ¹⁵
5	RDH12	Retinol Dehydrogenase 12	Protein Coding	7.66	DISEASES inferred ¹⁵
6	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	7.4	DISEASES inferred ¹⁵
7	SPATA7	Spermatogenesis Associated 7	Protein Coding	7.4	DISEASES inferred ¹⁵
8	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	7.3	DISEASES inferred ¹⁵
9	CRX	Cone-Rod Homeobox	Protein Coding	7.18	DISEASES inferred ¹⁵
10	IMPDH1	Inosine Monophosphate Dehydrogenase 1	Protein Coding	7.17	DISEASES inferred ¹⁵
11	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	6.96	DISEASES inferred ¹⁵
12	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	6.96	DISEASES inferred ¹⁵
13	CEP290	Centrosomal Protein 290	Protein Coding	6.77	DISEASES inferred ¹⁵

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Variations for Leber Congenital Amaurosis 9

ClinVar genetic disease variations for Leber Congenital Amaurosis 9:

⁶ (show top 50) (show all 72)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NMNAT1	NM_022787.4(NMNAT1):c.838T>C (p.Ter280Gln)	SNV	Pathogenic	37132	rs387907290	GRCh37: 1:10042757-10042757 GRCh38: 1:9982699-9982699
2	NMNAT1	NM_022787.4(NMNAT1):c.817A>G (p.Asn273Asp)	SNV	Pathogenic	37135	rs387907291	GRCh37: 1:10042736-10042736 GRCh38: 1:9982678-9982678
3	NMNAT1	NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe)	SNV	Pathogenic	37136	rs387907292	GRCh37: 1:10042370-10042370 GRCh38: 1:9982312-9982312
4	NMNAT1	NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu)	SNV	Pathogenic	37138	rs368062092	GRCh37: 1:10042629-10042629 GRCh38: 1:9982571-9982571
5	NMNAT1	NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val)	SNV	Pathogenic	37139	rs387907293	GRCh37: 1:10042376-10042376 GRCh38: 1:9982318-9982318
6	NMNAT1	NM_022787.4(NMNAT1):c.25G>A (p.Val9Met)	SNV	Pathogenic	37140	rs387907294	GRCh37: 1:10032156-10032156 GRCh38: 1:9972098-9972098
7	NMNAT1	NC_000001.11:g.(?_9981011)_(9982721_?)del	Deletion	Pathogenic	464669		GRCh37: 1:10041069-10042779 GRCh38: 1:9981011-9982721
8	NMNAT1	NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser)	SNV	Pathogenic	464670	rs778606847	GRCh37: 1:10042635-10042635 GRCh38: 1:9982577-9982577
9	NMNAT1	NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)	SNV	Pathogenic	972092		GRCh37: 1:10035739-10035739 GRCh38: 1:9975681-9975681
10	NMNAT1	NM_022787.4(NMNAT1):c.-69C>T	SNV	Pathogenic	978238		GRCh37: 1:10003561-10003561 GRCh38: 1:9943503-9943503
11	NMNAT1	NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	SNV	Pathogenic	195375	rs138613460	GRCh37: 1:10032168-10032168 GRCh38: 1:9972110-9972110
12	NMNAT1	NC_000001.11:g.(?_9972074)_(9972188_?)del	Deletion	Pathogenic	978250		GRCh37: GRCh38: 1:9972074-9972188
13	NMNAT1	NC_000001.11:g.(?_9972074)_(9975775_?)del	Deletion	Pathogenic	978251		GRCh37: GRCh38: 1:9972074-9975775
14	NMNAT1	NM_022787.4(NMNAT1):c.1A>G (p.Met1Val)	SNV	Pathogenic	978252		GRCh37: 1:10032132-10032132 GRCh38: 1:9972074-9972074
15	NMNAT1	NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)	SNV	Pathogenic	845745		GRCh37: 1:10042628-10042628 GRCh38: 1:9982570-9982570
16	NMNAT1	NM_022787.4(NMNAT1):c.319G>T (p.Glu107Ter)	SNV	Pathogenic	978255		GRCh37: 1:10041108-10041108 GRCh38: 1:9981050-9981050
17	NMNAT1	NM_022787.4(NMNAT1):c.376A>T (p.Lys126Ter)	SNV	Pathogenic	978256		GRCh37: 1:10041165-10041165 GRCh38: 1:9981107-9981107
18	NMNAT1	NM_022787.4(NMNAT1):c.643G>T (p.Glu215Ter)	SNV	Pathogenic	978260		GRCh37: 1:10042562-10042562 GRCh38: 1:9982504-9982504
19	NMNAT1	NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp)	SNV	Pathogenic	37133	rs142968179	GRCh37: 1:10042538-10042538 GRCh38: 1:9982480-9982480
20	NMNAT1	NM_022787.4(NMNAT1):c.364del (p.Arg122fs)	Deletion	Pathogenic	871050		GRCh37: 1:10041151-10041151 GRCh38: 1:9981093-9981093
21	NMNAT1	NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter)	SNV	Pathogenic	265453	rs371526758	GRCh37: 1:10042426-10042426 GRCh38: 1:9982368-9982368
22	NMNAT1	NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	SNV	Pathogenic	37134	rs150726175	GRCh37: 1:10042688-10042688 GRCh38: 1:9982630-9982630
23	NMNAT1	NM_022787.4(NMNAT1):c.439+1G>C	SNV	Pathogenic	978258		GRCh37: 1:10041229-10041229 GRCh38: 1:9981171-9981171
24	NMNAT1	NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly)	SNV	Likely pathogenic	978259		GRCh37: 1:10042437-10042437 GRCh38: 1:9982379-9982379
25	NMNAT1	NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)	SNV	Likely pathogenic	190977	rs748902766	GRCh37: 1:10032184-10032184 GRCh38: 1:9972126-9972126
26	NMNAT1	NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser)	SNV	Likely pathogenic	978261		GRCh37: 1:10042566-10042566 GRCh38: 1:9982508-9982508
27	NMNAT1	NM_022787.4(NMNAT1):c.752A>C (p.His251Pro)	SNV	Likely pathogenic	978262		GRCh37: 1:10042671-10042671 GRCh38: 1:9982613-9982613
28	NMNAT1	NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro)	SNV	Likely pathogenic	978257		GRCh37: 1:10041228-10041228 GRCh38: 1:9981170-9981170
29	NMNAT1	NM_022787.4(NMNAT1):c.238G>A (p.Val80Met)	SNV	Likely pathogenic	978253		GRCh37: 1:10035772-10035772 GRCh38: 1:9975714-9975714
30	NMNAT1	NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe)	SNV	Likely pathogenic	978254		GRCh37: 1:10035778-10035778 GRCh38: 1:9975720-9975720
31	NMNAT1	NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)	SNV	Likely pathogenic	866255		GRCh37: 1:10035827-10035827 GRCh38: 1:9975769-9975769
32	NMNAT1	NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn)	SNV	Likely pathogenic	978246		GRCh37: 1:10042569-10042569 GRCh38: 1:9982511-9982511
33	NMNAT1	NM_022787.4(NMNAT1):c.-72G>A	SNV	Likely pathogenic	978247		GRCh37: 1:10003558-10003558 GRCh38: 1:9943500-9943500
34	NMNAT1	NM_022787.4(NMNAT1):c.-57+4A>G	SNV	Likely pathogenic	978248		GRCh37: 1:10003577-10003577 GRCh38: 1:9943519-9943519
35	NMNAT1	NM_022787.4(NMNAT1):c.-57G>T	SNV	Likely pathogenic	978249		GRCh37: 1:10003573-10003573 GRCh38: 1:9943515-9943515
36	NMNAT1	NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg)	SNV	Likely pathogenic	978239		GRCh37: 1:10035713-10035713 GRCh38: 1:9975655-9975655
37	NMNAT1	NM_022787.4(NMNAT1):c.458T>C (p.Leu153Pro)	SNV	Likely pathogenic	978240		GRCh37: 1:10042377-10042377 GRCh38: 1:9982319-9982319
38	NMNAT1	NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys)	SNV	Likely pathogenic	978241		GRCh37: 1:10042461-10042461 GRCh38: 1:9982403-9982403
39	NMNAT1	NM_022787.4(NMNAT1):c.717G>T (p.Leu239Phe)	SNV	Likely pathogenic	978242		GRCh37: 1:10042636-10042636 GRCh38: 1:9982578-9982578
40	NMNAT1	NM_022787.4(NMNAT1):c.500A>T (p.Asn167Ile)	SNV	Likely pathogenic	978243		GRCh37: 1:10042419-10042419 GRCh38: 1:9982361-9982361
41	NMNAT1	NM_022787.4(NMNAT1):c.-57+10C>T	SNV	Likely pathogenic	978244		GRCh37: 1:10003583-10003583 GRCh38: 1:9943525-9943525
42	NMNAT1	NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu)	SNV	Likely pathogenic	635553	rs372066126	GRCh37: 1:10035739-10035739 GRCh38: 1:9975681-9975681
43	NMNAT1	NC_000001.11:g.(?_9972074)_(9981247_?)dup	Duplication	Uncertain significance	831274		GRCh37: 1:10032132-10041305 GRCh38:
44	NMNAT1	NC_000001.11:g.(?_9981031)_(9982701_?)dup	Duplication	Uncertain significance	831929		GRCh37: 1:10041089-10042759 GRCh38:
45	NMNAT1	NM_022787.4(NMNAT1):c.593A>G (p.Tyr198Cys)	SNV	Uncertain significance	978245		GRCh37: 1:10042512-10042512 GRCh38: 1:9982454-9982454
46	NMNAT1	NM_022787.4(NMNAT1):c.837A>G (p.Thr279=)	SNV	Uncertain significance	849205		GRCh37: 1:10042756-10042756 GRCh38: 1:9982698-9982698
47	NMNAT1	NM_022787.4(NMNAT1):c.299G>A (p.Arg100Lys)	SNV	Uncertain significance	949997		GRCh37: 1:10035833-10035833 GRCh38: 1:9975775-9975775
48	NMNAT1	NM_022787.4(NMNAT1):c.599C>T (p.Ser200Leu)	SNV	Uncertain significance	956369		GRCh37: 1:10042518-10042518 GRCh38: 1:9982460-9982460
49	NMNAT1	NM_022787.4(NMNAT1):c.13G>A (p.Glu5Lys)	SNV	Uncertain significance	966992		GRCh37: 1:10032144-10032144 GRCh38: 1:9972086-9972086
50	NMNAT1	NM_022787.4(NMNAT1):c.206T>A (p.Met69Lys)	SNV	Uncertain significance	1001921		GRCh37: 1:10035740-10035740 GRCh38: 1:9975682-9975682

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 9:

⁷² (show all 28)

#	Symbol	AA change	Variation ID	SNP ID
1	NMNAT1	p.Val9Met	VAR_068856	rs387907294
2	NMNAT1	p.Ala13Thr	VAR_068857	rs138613460
3	NMNAT1	p.Ile20Asn	VAR_068858	rs761948762
4	NMNAT1	p.Asp33Gly	VAR_068859
5	NMNAT1	p.Met35Thr	VAR_068860
6	NMNAT1	p.Ala54Val	VAR_068861	rs760965874
7	NMNAT1	p.Arg66Trp	VAR_068862	rs763325435
8	NMNAT1	p.Val67Phe	VAR_068863	rs756903689
9	NMNAT1	p.Met69Val	VAR_068864	rs372066126
10	NMNAT1	p.Leu72His	VAR_068865
11	NMNAT1	p.Val98Gly	VAR_068866	rs771336246
12	NMNAT1	p.Ala147Pro	VAR_068867
13	NMNAT1	p.Val151Phe	VAR_068868	rs387907292
14	NMNAT1	p.Leu153Pro	VAR_068869
15	NMNAT1	p.Leu153Val	VAR_068870	rs387907293
16	NMNAT1	p.Gly156Arg	VAR_068871	rs124451164
17	NMNAT1	p.Asp173Gly	VAR_068872
18	NMNAT1	p.Val178Met	VAR_068873	rs757724544
19	NMNAT1	p.Tyr181Cys	VAR_068874	rs748913297
20	NMNAT1	p.Ile184Met	VAR_068875
21	NMNAT1	p.Arg207Trp	VAR_068876	rs142968179
22	NMNAT1	p.Ile217Asn	VAR_068877
23	NMNAT1	p.Arg237Cys	VAR_068878	rs375110174
24	NMNAT1	p.Arg237Leu	VAR_068879	rs368062092
25	NMNAT1	p.Leu239Ser	VAR_068880	rs778606847
26	NMNAT1	p.His251Pro	VAR_068881	rs120849529
27	NMNAT1	p.Glu257Lys	VAR_068882	rs150726175
28	NMNAT1	p.Asn273Asp	VAR_068883	rs387907291

Sources

Expression for Leber Congenital Amaurosis 9

Search GEO for disease gene expression data for Leber Congenital Amaurosis 9.

Sources

Pathways for Leber Congenital Amaurosis 9

Pathways related to Leber Congenital Amaurosis 9 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Drug metabolism - cytochrome P450 ³⁶ Show member pathways Aflatoxin B1 metabolism ¹ Artemisinin and Derivatives Pathway, Pharmacokinetics ⁶⁰ Arylamine metabolism ¹ Benzo[a]pyrene metabolism ²³ Benzodiazepine Pathway, Pharmacokinetics ⁶⁰ Celecoxib Pathway, Pharmacokinetics ⁶⁰ Chemical carcinogenesis ³⁶ Drug metabolism - other enzymes ³⁶ Fluoxetine Pathway, Pharmacokinetics ⁶⁰ Fluvoxamine Pathway, Pharmacokinetics ⁶⁰ Haloperidol Pathway, Pharmacokinetics ⁶⁰ Ifosfamide Pathway, Pharmacokinetics ⁶⁰ Metabolism of xenobiotics by cytochrome P450 ³⁶ Naproxen Pathway, Pharmacokinetics ⁶⁰ Nicotine Metabolism ¹ Nicotine Pathway, Pharmacokinetics ⁶⁰ Retinol metabolism ³⁶ Retinol metabolism ²³ Sertraline Pathway, Pharmacokinetics ⁶⁰ Voriconazole Pathway, Pharmacokinetics ⁶⁰	12.4	RPE65 RDH12 LRAT IMPDH1
2	Metabolism of fat-soluble vitamins ⁶⁵ Show member pathways Metabolism of vitamin K ⁶⁵ Retinoid metabolism and transport ⁶⁵ The retinoid cycle in cones (daylight vision) ⁶⁵ Visual phototransduction ⁶⁵ Vitamin D (calciferol) metabolism ⁶⁵	11.95	RPE65 RDH12 LRAT GUCY2D
3	Phototransduction ³⁶ Show member pathways Activation of the phototransduction cascade ⁶⁵ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁵ The phototransduction cascade ⁶⁵ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.45	RPE65 RDH12 LRAT GUCY2D
4	the visual cycle I (vertebrates) ¹ Show member pathways retinol biosynthesis ¹ The canonical retinoid cycle in rods (twilight vision) ⁶⁵	11.17	RPE65 RDH12 LRAT
5	Vitamin A and Carotenoid Metabolism ¹	10.98	RPE65 RDH12 LRAT
6	Visual Cycle in Retinal Rods ⁶³	10.9	RPE65 RDH12 LRAT GUCY2D

Sources

GO Terms for Leber Congenital Amaurosis 9

Cellular components related to Leber Congenital Amaurosis 9 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.73	TULP1 SPATA7 LCA5 GUCY2D CRB1 CEP290
2	ciliary basal body	GO:0036064	9.5	SPATA7 LCA5 CEP290
3	photoreceptor connecting cilium	GO:0032391	9.33	SPATA7 LCA5 CEP290
4	photoreceptor outer segment	GO:0001750	9.26	TULP1 SPATA7 GUCY2D CRB1
5	photoreceptor inner segment	GO:0001917	8.92	TULP1 RDH12 CRB1 AIPL1

Biological processes related to Leber Congenital Amaurosis 9 according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.76	TULP1 SPATA7 RPE65 RDH12 LRAT GUCY2D
2	retina development in camera-type eye	GO:0060041	9.65	TULP1 RPE65 CRB1
3	retinoid metabolic process	GO:0001523	9.61	RPE65 RDH12 LRAT
4	retinol metabolic process	GO:0042572	9.58	RPE65 RDH12 LRAT
5	retina homeostasis	GO:0001895	9.54	TULP1 RPE65 AIPL1
6	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.52	GUCY2D AIPL1
7	retina morphogenesis in camera-type eye	GO:0060042	9.51	RPE65 CRB1
8	detection of light stimulus involved in visual perception	GO:0050908	9.5	TULP1 RPE65 CRB1
9	vitamin A metabolic process	GO:0006776	9.49	RPE65 LRAT
10	protein localization to photoreceptor outer segment	GO:1903546	9.46	TULP1 SPATA7
11	eye photoreceptor cell development	GO:0042462	9.43	TULP1 CRB1 CEP290
12	photoreceptor cell maintenance	GO:0045494	9.35	TULP1 SPATA7 RDH12 LCA5 CRB1
13	visual perception	GO:0007601	9.28	TULP1 SPATA7 RPE65 RDH12 LRAT GUCY2D

Sources

Sources for Leber Congenital Amaurosis 9

¹ BioSystems

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³ CDC

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

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⁶⁰ PharmGKB

⁶¹ PubMed

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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 9 (LCA9)

Aliases & Classifications for Leber Congenital Amaurosis 9

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Expression for Leber Congenital Amaurosis 9

Pathways for Leber Congenital Amaurosis 9

Pathways related to Leber Congenital Amaurosis 9 according to GeneCards Suite gene sharing:

GO Terms for Leber Congenital Amaurosis 9

Cellular components related to Leber Congenital Amaurosis 9 according to GeneCards Suite gene sharing:

Biological processes related to Leber Congenital Amaurosis 9 according to GeneCards Suite gene sharing:

Sources for Leber Congenital Amaurosis 9