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

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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 ¹¹ ⁷³ ²⁸ ¹² ⁵ ¹⁴ ⁷¹

Lca9 ⁵⁷ ¹¹ ⁷³

Leber Congenital Amaurosis, Type 9 ³⁸

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
visual impairment is present at birth and is progressive
less severe phenotype with onset in early childhood (in some patients)
mild reduction in photoreceptor responses affecting cones more than rods (in some patients)

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:0110005

OMIM® ⁵⁷ 608553

OMIM Phenotypic Series ⁵⁷ PS204000

MeSH ⁴³ D057130

ICD10 ³¹ H35.5

MedGen ⁴⁰ C1837873

SNOMED-CT via HPO ⁶⁹ 18410006 23289000 246622003 more

UMLS ⁷¹ 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 mutations have been observed to 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). Some patients present with later onset and milder phenotype than typical LCA (Kumaran et al., 2021). For a general discussion of the phenotypic and genetic heterogeneity in Leber congenital amaurosis, see LCA1 (204000). (608553) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 9, also known as lca9, is related to retinal degeneration and fundus dystrophy. An important gene associated with Leber Congenital Amaurosis 9 is NMNAT1 (Nicotinamide Nucleotide Adenylyltransferase 1), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Visual phototransduction. Affiliated tissues include retina, eye and bone, and related phenotypes are photophobia and nyctalopia

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 NMNAT1 gene on chromosome 1p36.

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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 81)

#	Related Disease	Score	Top Affiliating Genes
1	retinal degeneration	27.3	TULP1 SPATA7 RPE65 RDH12 NMNAT1 LRAT
2	fundus dystrophy	26.8	TULP1 SPATA7 RPE65 RDH12 NMNAT1 LRAT
3	leber plus disease	26.8	TULP1 SPATA7 RPE65 RDH12 NMNAT3 NMNAT2
4	spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis	10.2	NMNAT1 LCA5
5	wallerian degeneration	10.1	NMNAT2 NMNAT1
6	cone-rod dystrophy 17	10.1	GUCY2D AIPL1
7	chorioretinal scar	10.1	RDH12 CRB1
8	gapo syndrome	10.1	CRB1 AIPL1
9	retinitis pigmentosa 38	10.1	GUCY2D AIPL1
10	peripheral retinal degeneration	10.1
11	retinitis pigmentosa 12	10.1	CRB1 AIPL1
12	retinal cone dystrophy 1	9.9	GUCY2D CRX
13	3-methylglutaconic aciduria, type iii	9.9
14	inherited retinal disorder	9.9
15	pigmented paravenous chorioretinal atrophy	9.9	GUCY2D CRB1 AIPL1
16	enophthalmos	9.9	GUCY2D CRB1
17	cone-rod dystrophy 3	9.9	GUCY2D CRX
18	microphthalmia, syndromic 9	9.9	RDH12 LRAT
19	occult macular dystrophy	9.9	GUCY2D CRX
20	pseudoretinitis pigmentosa	9.9	TULP1 IMPDH1 CRB1
21	retinitis pigmentosa 9	9.9	IMPDH1 CRX
22	retinitis pigmentosa 1	9.8	IMPDH1 CRX
23	cold-induced sweating syndrome 3	9.8	RPE65 GUCY2D
24	macular dystrophy, dominant cystoid	9.8	RPE65 CRB1
25	bestrophinopathy, autosomal recessive	9.8	RPE65 CRB1
26	scotoma	9.7	RPE65 GUCY2D
27	nanophthalmos	9.7	TULP1 RPE65 CRB1
28	stargardt disease 1	9.7	TULP1 RDH12 CRX CRB1
29	choroid disease	9.7	RPE65 GUCY2D CRB1
30	refractive error	9.6	RPE65 GUCY2D CRB1
31	macular retinal edema	9.6	RPE65 CRB1
32	usher syndrome type 2	9.6	RPE65 GUCY2D CRB1
33	gyrate atrophy of choroid and retina	9.6	RPE65 RDH12
34	partial central choroid dystrophy	9.6	RPE65 GUCY2D CRX
35	hereditary choroidal atrophy	9.5	RPE65 GUCY2D CRX
36	severe early-childhood-onset retinal dystrophy	9.5	SPATA7 RPE65 LRAT LCA5
37	physical disorder	9.5	RPE65 GUCY2D CRB1 AIPL1
38	retinitis	9.5	TULP1 RPE65 IMPDH1 CRB1
39	hereditary retinal dystrophy	9.5	SPATA7 RPE65 GUCY2D CRB1
40	leber congenital amaurosis 12	9.4	SPATA7 RPE65 LCA5 GUCY2D AIPL1
41	sensory system disease	9.4	RPE65 CRX CRB1
42	vitelliform macular dystrophy	9.3	RPE65 GUCY2D CRX CRB1
43	retinal disease	9.3	RPE65 GUCY2D CRX CRB1
44	degeneration of macula and posterior pole	9.3	RPE65 LRAT CRX CRB1
45	leber congenital amaurosis 15	9.3	TULP1 SPATA7 RDH12 LCA5 IMPDH1 GUCY2D
46	enhanced s-cone syndrome	9.2	RPE65 GUCY2D CRX CRB1 AIPL1
47	choroidal dystrophy, central areolar, 1	9.2	RPE65 GUCY2D CRX CRB1 AIPL1
48	color blindness	9.2	RPE65 GUCY2D CRX CRB1 AIPL1
49	retinoschisis 1, x-linked, juvenile	9.2	RPE65 GUCY2D CRX CRB1 AIPL1
50	leber congenital amaurosis 7	9.2	SPATA7 RDH12 LCA5 GUCY2D CRX CRB1

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:

³⁰ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	photophobia ³⁰	Occasional (7.5%)	HP:0000613
2	nyctalopia ³⁰	Very rare (1%)	HP:0000662
3	keratoconus ³⁰	Very rare (1%)	HP:0000563
4	color vision defect ³⁰	Very rare (1%)	HP:0000551
5	optic disc pallor ³⁰	Very rare (1%)	HP:0000543
6	macular coloboma ³⁰	Very rare (1%)	HP:0001116
7	horizontal nystagmus ³⁰	Very rare (1%)	HP:0000666
8	hypermetropia ³⁰	Very rare (1%)	HP:0000540
9	macular hypopigmentation ³⁰	Very rare (1%)	HP:0007988
10	retinal pigment epithelial mottling ³⁰	Very rare (1%)	HP:0007814
11	attenuation of retinal blood vessels ³⁰	Very rare (1%)	HP:0007843
12	macular scar ³⁰	Very rare (1%)	HP:0200056
13	bone spicule pigmentation of the retina ³⁰	Very rare (1%)	HP:0007737
14	undetectable electroretinogram ³⁰	Very rare (1%)	HP:0000550
15	retinal dots ³⁰	Very rare (1%)	HP:0032027
16	eye poking ³⁰	Very rare (1%)	HP:0001483
17	ultra-low vision with retained light perception ³⁰	Very rare (1%)	HP:0032286
18	optic atrophy ³⁰		HP:0000648

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Clinical features from OMIM®:

608553 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 9:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.73	AIPL1 CRB1 CRX GUCY2D LCA5 LRAT
2	pigmentation	MP:0001186	9.63	CRB1 CRX LCA5 NMNAT1 RPE65 TULP1
3	vision/eye	MP:0005391	9.44	AIPL1 CRB1 CRX GUCY2D IMPDH1 LCA5

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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 ²⁸	NMNAT1

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Anatomical Context for Leber Congenital Amaurosis 9

Organs/tissues related to Leber Congenital Amaurosis 9:

MalaCards : Retina, Eye, Bone

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Publications for Leber Congenital Amaurosis 9

Articles related to Leber Congenital Amaurosis 9:

(show all 35)

#	Title	Authors	PMID	Year
1	Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype. ⁶² ⁵⁷ ⁵	Khan AO...Bolz HJ	28369829	2018
2	NMNAT1 mutations cause Leber congenital amaurosis. ⁶² ⁵⁷ ⁵	Falk MJ...Pierce EA	22842227	2012
3	Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. ⁶² ⁵⁷ ⁵	Koenekoop RK...Chen R	22842230	2012
4	Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. ⁶² ⁵⁷ ⁵	Keen TJ...Inglehearn CF	12734549	2003
5	NMNAT1-ASSOCIATED CONE-ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT. ⁵⁷ ⁵	Bedoukian EC...Aleman TS	32150116	2022
6	A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM. ⁵⁷ ⁵	Kumaran N...Michaelides M	30004997	2021
7	An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. ⁵⁷ ⁵	Bedoni N...Rivolta C	32533184	2020
8	NMNAT1 variants cause cone and cone-rod dystrophy. ⁵⁷ ⁵	Nash BM...Jamieson RV	29184169	2018
9	Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. ⁵⁷ ⁵	Perrault I...Rozet JM	22842229	2012
10	Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. ⁶² ⁵	Coppieters F...De Baere E	26316326	2015
11	Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. ⁶² ⁵	Sasaki Y...Milbrandt J	26018082	2015
12	Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. ⁵	Sallum JMF...Belfort R	32865313	2020
13	Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. ⁵	Ellingford JM...Black GCM	29074561	2018
14	The genetic profile of Leber congenital amaurosis in an Australian cohort. ⁵	Thompson JA...Lamey TM	29178642	2017
15	Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. ⁵	Jinda W...Atchaneeyasakul LO	28453600	2017
16	Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. ⁵	Wang S...Zhao P	27422788	2016
17	Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. ⁵	Bravo-Gil N...Antinolo G	27032803	2016
18	Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. ⁵	Wang H...Sui R	26047050	2015
19	Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. ⁵	Boulanger-Scemama E...Audo I	26103963	2015
20	Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. ⁵	Consugar MB...Pierce EA	25412400	2015
21	Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. ⁵	Coppieters F...De Baere E	24625443	2014
22	Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. ⁵	Siemiatkowska AM...Cremers FP	24830548	2014
23	Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. ⁵	Siemiatkowska AM...Cremers FP	24940029	2014
24	Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology. ⁵	Jin X...Yin ZQ	24791140	2014
25	Genomic stability in reprogramming. ⁵	Ronen D...Benvenisty N	23040504	2012
26	Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. ⁵	Chiang PW...Qi M	22842231	2012
27	Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity. ⁵⁷	Zhai RG...Bellen HJ	17132048	2006
28	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
29	Voluntary smooth eye movements with foveally stabilized targets. ⁵	van den Berg AV...Collewijn H	3691693	1987
30	Relative frequency of inherited retinal dystrophies in Brazil. ⁶²	Motta FL...Sallum JMF	30374144	2018
31	NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. ⁶²	Eblimit A...Chen R	29674119	2018
32	Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. ⁶²	Greenwald SH...Pierce EA	27207593	2016
33	Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan. ⁶²	McKibbin M...Inglehearn CF	20065226	2010
34	Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. ⁶²	Ozgul RK...Ogus A	16082399	2006
35	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 9

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

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NMNAT1	Nicotinamide Nucleotide Adenylyltransferase 1	Protein Coding	1361.24	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Gene name Summaries (show sections)	3691693 12734549 16199547 (more) 22842227 22842229 22842230 22842231 23040504 24625443 24791140 24830548 24940029 26018082 26047050 26103963 26316326 27032803 27422788 28369829 28453600 29178642 29184169 30004997 32150116 32533184 32865313
1	NMNAT1::GH01J009942	TSS distance: +0.4kb Elite enhancer with elite association with NMNAT1			Curated enhancer-disease association ²³ ( 27569544)	26316326
2	LCA5	Lebercilin LCA5	Protein Coding	7.91	DISEASES inferred ¹⁴
3	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	7.41	DISEASES inferred ¹⁴
4	RDH12	Retinol Dehydrogenase 12	Protein Coding	7.31	DISEASES inferred ¹⁴
5	NMNAT3	Nicotinamide Nucleotide Adenylyltransferase 3	Protein Coding	7.29	DISEASES inferred ¹⁴
6	TULP1	TUB Like Protein 1	Protein Coding	7.26	DISEASES inferred ¹⁴
7	NMNAT2	Nicotinamide Nucleotide Adenylyltransferase 2	Protein Coding	7.02	DISEASES inferred ¹⁴
8	SPATA7	Spermatogenesis Associated 7	Protein Coding	7.01	DISEASES inferred ¹⁴
9	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	6.94	DISEASES inferred ¹⁴
10	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	6.9	DISEASES inferred ¹⁴
11	IMPDH1	Inosine Monophosphate Dehydrogenase 1	Protein Coding	6.85	DISEASES inferred ¹⁴
12	CRX	Cone-Rod Homeobox	Protein Coding	6.84	DISEASES inferred ¹⁴
13	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	6.53	DISEASES inferred ¹⁴
14	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	6.48	DISEASES inferred ¹⁴

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Variations for Leber Congenital Amaurosis 9

ClinVar genetic disease variations for Leber Congenital Amaurosis 9:

⁵ (show top 50) (show all 145)

#	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.507G>A (p.Trp169Ter)	SNV	Pathogenic	265453	rs371526758	GRCh37: 1:10042426-10042426 GRCh38: 1:9982368-9982368
5	NMNAT1	NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu)	SNV	Pathogenic	37138	rs368062092	GRCh37: 1:10042629-10042629 GRCh38: 1:9982571-9982571
6	NMNAT1	NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val)	SNV	Pathogenic	37139	rs387907293	GRCh37: 1:10042376-10042376 GRCh38: 1:9982318-9982318
7	NMNAT1	NM_022787.4(NMNAT1):c.25G>A (p.Val9Met)	SNV	Pathogenic	37140	rs387907294	GRCh37: 1:10032156-10032156 GRCh38: 1:9972098-9972098
8	NMNAT1	NC_000001.11:g.(?_9981011)_(9982721_?)del	DEL	Pathogenic	464669		GRCh37: 1:10041069-10042779 GRCh38: 1:9981011-9982721
9	NMNAT1	NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser)	SNV	Pathogenic	464670	rs778606847	GRCh37: 1:10042635-10042635 GRCh38: 1:9982577-9982577
10	NMNAT1	NM_022787.4(NMNAT1):c.-69C>T	SNV	Pathogenic	978238	rs1175912276	GRCh37: 1:10003561-10003561 GRCh38: 1:9943503-9943503
11	NMNAT1	NC_000001.11:g.(?_9972074)_(9972188_?)del	DEL	Pathogenic	978250		GRCh37: GRCh38: 1:9972074-9972188
12	NMNAT1	NC_000001.11:g.(?_9972074)_(9975775_?)del	DEL	Pathogenic	978251		GRCh37: GRCh38: 1:9972074-9975775
13	NMNAT1	NM_022787.4(NMNAT1):c.1A>G (p.Met1Val)	SNV	Pathogenic	978252	rs756649389	GRCh37: 1:10032132-10032132 GRCh38: 1:9972074-9972074
14	NMNAT1	NM_022787.4(NMNAT1):c.643G>T (p.Glu215Ter)	SNV	Pathogenic	978260	rs1345605596	GRCh37: 1:10042562-10042562 GRCh38: 1:9982504-9982504
15	NMNAT1	NM_022787.4(NMNAT1):c.500A>G (p.Asn167Ser)	SNV	Pathogenic	1062684		GRCh37: 1:10042419-10042419 GRCh38: 1:9982361-9982361
16	NMNAT1	NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys)	SNV	Pathogenic	438390	rs1271498710	GRCh37: 1:10035805-10035805 GRCh38: 1:9975747-9975747
17	NMNAT1	NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala)	SNV	Pathogenic	1062688		GRCh37: 1:10035779-10035779 GRCh38: 1:9975721-9975721
18	NMNAT1	NC_000001.10:g.(?_10027411)_(10042759_?)del	DEL	Pathogenic	1071528		GRCh37: 1:10027411-10042759 GRCh38:
19	NMNAT1	NM_022787.4(NMNAT1):c.319G>T (p.Glu107Ter)	SNV	Pathogenic	978255	rs1641936336	GRCh37: 1:10041108-10041108 GRCh38: 1:9981050-9981050
20	NMNAT1	NM_022787.4(NMNAT1):c.376A>T (p.Lys126Ter)	SNV	Pathogenic	978256	rs1641937559	GRCh37: 1:10041165-10041165 GRCh38: 1:9981107-9981107
21	NMNAT1	NM_022787.4(NMNAT1):c.439+1G>C	SNV	Pathogenic	978258	rs1641939338	GRCh37: 1:10041229-10041229 GRCh38: 1:9981171-9981171
22	NMNAT1	NC_000001.10:g.(?_10035630)_(10041248_?)del	DEL	Pathogenic	1426207		GRCh37: 1:10035630-10041248 GRCh38:
23	NMNAT1	NM_022787.4(NMNAT1):c.255G>A (p.Trp85Ter)	SNV	Pathogenic	1459432		GRCh37: 1:10035789-10035789 GRCh38: 1:9975731-9975731
24	NMNAT1	NM_022787.4(NMNAT1):c.469del (p.Ala157fs)	DEL	Pathogenic	1437729		GRCh37: 1:10042385-10042385 GRCh38: 1:9982327-9982327
25	NMNAT1	NM_022787.4(NMNAT1):c.116-2A>G	SNV	Pathogenic	1435359		GRCh37: 1:10035648-10035648 GRCh38: 1:9975590-9975590
26	NMNAT1	NC_000001.10:g.(?_10041069)_(10041248_?)del	DEL	Pathogenic	1451670		GRCh37: 1:10041069-10041248 GRCh38:
27	NMNAT1	NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)	SNV	Pathogenic	866255	rs771336246	GRCh37: 1:10035827-10035827 GRCh38: 1:9975769-9975769
28	NMNAT1	NM_022787.4(NMNAT1):c.299+526_*968dup	DUP	Pathogenic	1050789		GRCh37: 1:10036306-10036307 GRCh38: 1:9976248-9976249
29	NMNAT1	NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)	SNV	Pathogenic	845745	rs375110174	GRCh37: 1:10042628-10042628 GRCh38: 1:9982570-9982570
30	NMNAT1	NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)	SNV	Pathogenic	972092	rs372066126	GRCh37: 1:10035739-10035739 GRCh38: 1:9975681-9975681
31	NMNAT1	NM_022787.4(NMNAT1):c.393_394del (p.Glu131fs)	DEL	Pathogenic	1412405		GRCh37: 1:10041181-10041182 GRCh38: 1:9981123-9981124
32	NMNAT1	NM_022787.4(NMNAT1):c.676del (p.Ile226fs)	DEL	Pathogenic	1424174		GRCh37: 1:10042591-10042591 GRCh38: 1:9982533-9982533
33	NMNAT1	NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp)	SNV	Pathogenic	982555	rs763325435	GRCh37: 1:10035730-10035730 GRCh38: 1:9975672-9975672
34	NMNAT1	NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp)	SNV	Pathogenic	37133	rs142968179	GRCh37: 1:10042538-10042538 GRCh38: 1:9982480-9982480
35	NMNAT1	NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	SNV	Pathogenic	37134	rs150726175	GRCh37: 1:10042688-10042688 GRCh38: 1:9982630-9982630
36	NMNAT1	NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)	SNV	Pathogenic	190977	rs748902766	GRCh37: 1:10032184-10032184 GRCh38: 1:9972126-9972126
37	NMNAT1	NM_022787.4(NMNAT1):c.364del (p.Arg122fs)	DEL	Pathogenic	871050	rs1413885352	GRCh37: 1:10041151-10041151 GRCh38: 1:9981093-9981093
38	NMNAT1	NM_022787.4(NMNAT1):c.115+1G>A	SNV	Likely Pathogenic	1486767		GRCh37: 1:10032247-10032247 GRCh38: 1:9972189-9972189
39	NMNAT1	NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	SNV	Likely Pathogenic	195375	rs138613460	GRCh37: 1:10032168-10032168 GRCh38: 1:9972110-9972110
40	NMNAT1	NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly)	SNV	Likely Pathogenic	978259	rs1641967500	GRCh37: 1:10042437-10042437 GRCh38: 1:9982379-9982379
41	NMNAT1	NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro)	SNV	Likely Pathogenic	978257	rs1570715470	GRCh37: 1:10041228-10041228 GRCh38: 1:9981170-9981170
42	NMNAT1	NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser)	SNV	Likely Pathogenic	978261	rs771954272	GRCh37: 1:10042566-10042566 GRCh38: 1:9982508-9982508
43	NMNAT1	NM_022787.4(NMNAT1):c.752A>C (p.His251Pro)	SNV	Likely Pathogenic	978262	rs1208495291	GRCh37: 1:10042671-10042671 GRCh38: 1:9982613-9982613
44	NMNAT1	NM_022787.4(NMNAT1):c.238G>A (p.Val80Met)	SNV	Likely Pathogenic	978253	rs1641791811	GRCh37: 1:10035772-10035772 GRCh38: 1:9975714-9975714
45	NMNAT1	NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe)	SNV	Likely Pathogenic	978254	rs1641792104	GRCh37: 1:10035778-10035778 GRCh38: 1:9975720-9975720
46	NMNAT1	NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn)	SNV	Likely Pathogenic	978246	rs1641971124	GRCh37: 1:10042569-10042569 GRCh38: 1:9982511-9982511
47	NMNAT1	NM_022787.4(NMNAT1):c.-72G>A	SNV	Likely Pathogenic	978247	rs1475372376	GRCh37: 1:10003558-10003558 GRCh38: 1:9943500-9943500
48	NMNAT1	NM_022787.4(NMNAT1):c.-57+4A>G	SNV	Likely Pathogenic	978248	rs957312118	GRCh37: 1:10003577-10003577 GRCh38: 1:9943519-9943519
49	NMNAT1	NM_022787.4(NMNAT1):c.-57G>T	SNV	Likely Pathogenic	978249	rs1640875002	GRCh37: 1:10003573-10003573 GRCh38: 1:9943515-9943515
50	NMNAT1	NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg)	SNV	Likely Pathogenic	978239	rs1641789657	GRCh37: 1:10035713-10035713 GRCh38: 1:9975655-9975655

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

⁷³ (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	rs1244511644
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	rs1208495291
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:

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of water-soluble vitamins and cofactors ⁶⁶ Show member pathways Biotin metabolism, including IMDs ⁷⁴ Biotin transport and metabolism ⁶⁶ Coenzyme A biosynthesis ⁶⁶ Defective BTD causes biotidinase deficiency ⁶⁶ Defective HLCS causes multiple carboxylase deficiency ⁶⁶ Defects in biotin (Btn) metabolism ⁶⁶ Metabolism of cofactors ⁶⁶ Metabolism of folate and pterines ⁶⁶ Metabolism of vitamins and cofactors ⁶⁶ molybdenum cofactor biosynthesis ⁶¹ Molybdenum cofactor biosynthesis ⁶⁶ Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation ⁶⁶ thiamin salvage III ⁶¹ Ubiquinol biosynthesis ⁶⁶ Vitamin B1 (thiamin) metabolism ⁶⁶ Vitamin B2 (riboflavin) metabolism ⁶⁶ Vitamin B5 (pantothenate) metabolism ⁶⁶ Vitamin C (ascorbate) metabolism ⁶⁶ Vitamins B6 activation to pyridoxal phosphate ⁶⁶	12.46	NMNAT3 NMNAT2 NMNAT1 LRAT
2	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	12.32	RPE65 RDH12 LRAT GUCY2D
3	superpathway of tryptophan utilization ⁶¹ Show member pathways 2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA ⁶¹ L-kynurenine degradation ⁶¹ L-tryptophan degradation III (eukaryotic) ⁶¹ L-tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde ⁶¹ L-tryptophan degradation X (mammalian, via tryptamine) ⁶¹ L-tryptophan degradation XI (mammalian, via kynurenine) ⁶¹ NAD biosynthesis from 2-amino-3-carboxymuconate semialdehyde ⁶¹ NAD biosynthesis II (from tryptophan) ⁷⁴ NAD de novo biosynthesis ⁶¹ NAD de novo biosynthesis II (from tryptophan) ⁶¹ serotonin degradation ⁶¹ tryptophan degradation ⁶¹ tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde ⁶¹ tryptophan degradation via tryptamine ⁶¹ Tryptophan metabolism ⁷⁴	11.95	NMNAT3 NMNAT2 NMNAT1
4	NAD metabolism ²² Show member pathways NAD phosphorylation and transhydrogenation ⁶¹ NAD salvage ⁶¹ NAD salvage pathway IV (from nicotinamide riboside) ⁶¹ NAD+ biosynthetic pathways ⁷⁴ NAD+ metabolism ⁷⁴	11.64	NMNAT3 NMNAT2 NMNAT1
5	Visual Cycle in Retinal Rods ⁶⁴	11.53	RPE65 RDH12 LRAT GUCY2D
6	Ciliopathies ⁷⁴	11.51	TULP1 SPATA7 LCA5 CRX
7	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	11.45	RPE65 RDH12 LRAT
8	Nicotinate metabolism ⁶⁶ Show member pathways Nicotinamide salvaging ⁶⁶	11.28	NMNAT3 NMNAT2 NMNAT1
9	Retinol metabolism (TR) ²² Show member pathways Ifosfamide Pathway, Pharmacokinetics ⁶⁰	11.2	LRAT RDH12 RPE65
10	Vitamin A and carotenoid metabolism ⁷⁴	11.12	RPE65 RDH12 LRAT
11	Retinol metabolism (WikiPathways) ⁷⁴	10.39	RPE65 RDH12 LRAT
12	Visual signal transduction: Cones ⁶¹	10.29	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	9.7	TULP1 SPATA7 NMNAT2 LCA5 GUCY2D CRB1
2	photoreceptor outer segment	GO:0001750	9.5	TULP1 SPATA7 GUCY2D CRB1
3	photoreceptor inner segment	GO:0001917	9.23	TULP1 RDH12 CRB1 AIPL1

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

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	retinol metabolic process	GO:0042572	9.97	LRAT RDH12 RPE65
2	retina homeostasis	GO:0001895	9.95	TULP1 RPE65 AIPL1
3	retinoid metabolic process	GO:0001523	9.93	RPE65 RDH12 LRAT
4	detection of light stimulus involved in visual perception	GO:0050908	9.88	TULP1 RPE65 CRB1
5	eye photoreceptor cell development	GO:0042462	9.87	TULP1 CRB1
6	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.85	GUCY2D AIPL1
7	NAD biosynthetic process	GO:0009435	9.85	NMNAT1 NMNAT2 NMNAT3
8	photoreceptor cell maintenance	GO:0045494	9.85	TULP1 SPATA7 RDH12 LCA5 CRB1
9	retina development in camera-type eye	GO:0060041	9.84	TULP1 RPE65 CRB1
10	protein localization to photoreceptor outer segment	GO:1903546	9.83	TULP1 SPATA7
11	vitamin A metabolic process	GO:0006776	9.81	RPE65 LRAT
12	nucleotide biosynthetic process	GO:0009165	9.8	NMNAT3 NMNAT2 NMNAT1
13	retina morphogenesis in camera-type eye	GO:0060042	9.73	RPE65 CRB1
14	response to stimulus	GO:0050896	9.65	AIPL1 CRX GUCY2D LRAT RDH12 RPE65
15	biosynthetic process	GO:0009058	9.61	NMNAT3 NMNAT2 NMNAT1
16	visual perception	GO:0007601	9.55	TULP1 SPATA7 RPE65 RDH12 LRAT GUCY2D
17	pyridine nucleotide biosynthetic process	GO:0019363	9.43	NMNAT3 NMNAT2 NMNAT1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	catalytic activity	GO:0003824	9.55	RPE65 NMNAT3 NMNAT2 NMNAT1 IMPDH1
2	nucleotidyltransferase activity	GO:0016779	9.5	NMNAT3 NMNAT2 NMNAT1
3	nicotinate-nucleotide adenylyltransferase activity	GO:0004515	9.43	NMNAT3 NMNAT2 NMNAT1
4	adenylyltransferase activity	GO:0070566	9.26	NMNAT3 NMNAT1
5	nicotinamide-nucleotide adenylyltransferase activity	GO:0000309	9.1	NMNAT3 NMNAT2 NMNAT1

Sources

Sources for Leber Congenital Amaurosis 9

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

LCA9 MCID: LBR019 MIFTS: 47	Leber Congenital Amaurosis 9 (LCA9) 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 9 (LCA9)

Aliases & Classifications for Leber Congenital Amaurosis 9

MalaCards integrated aliases for Leber Congenital Amaurosis 9:

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Inheritance:

OMIM®:

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Summaries for Leber Congenital Amaurosis 9

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Diseases in the Leber Congenital Amaurosis 4 family:

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ClinVar genetic disease variations for Leber Congenital Amaurosis 9:

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

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:

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

Sources for Leber Congenital Amaurosis 9