LCA9
MCID: LBR019
MIFTS: 47

Leber Congenital Amaurosis 9 (LCA9)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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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:



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
UMLS 71 C1837873

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.

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:



Diseases related to Leber Congenital Amaurosis 9

Symptoms & Phenotypes for Leber Congenital Amaurosis 9

Human phenotypes related to Leber Congenital Amaurosis 9:

30 (show all 18)
# Description HPO Frequency Orphanet 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

Drugs & Therapeutics for Leber Congenital Amaurosis 9

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

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

Anatomical Context for Leber Congenital Amaurosis 9

Organs/tissues related to Leber Congenital Amaurosis 9:

MalaCards : Retina, Eye, Bone

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
28369829 2018
2
NMNAT1 mutations cause Leber congenital amaurosis. 62 57 5
22842227 2012
3
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 62 57 5
22842230 2012
4
Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. 62 57 5
12734549 2003
5
NMNAT1-ASSOCIATED CONE-ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT. 57 5
32150116 2022
6
A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM. 57 5
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
32533184 2020
8
NMNAT1 variants cause cone and cone-rod dystrophy. 57 5
29184169 2018
9
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 57 5
22842229 2012
10
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. 62 5
26316326 2015
11
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. 62 5
26018082 2015
12
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. 5
32865313 2020
13
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. 5
29074561 2018
14
The genetic profile of Leber congenital amaurosis in an Australian cohort. 5
29178642 2017
15
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. 5
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
27422788 2016
17
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 5
27032803 2016
18
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 5
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
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
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
24625443 2014
22
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. 5
24830548 2014
23
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. 5
24940029 2014
24
Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology. 5
24791140 2014
25
Genomic stability in reprogramming. 5
23040504 2012
26
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 5
22842231 2012
27
Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity. 57
17132048 2006
28
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
29
Voluntary smooth eye movements with foveally stabilized targets. 5
3691693 1987
30
Relative frequency of inherited retinal dystrophies in Brazil. 62
30374144 2018
31
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. 62
29674119 2018
32
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. 62
27207593 2016
33
Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan. 62
20065226 2010
34
Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. 62
16082399 2006
35
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62
20301475 2004

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

Expression for Leber Congenital Amaurosis 9

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

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
Show member pathways
12.46 NMNAT3 NMNAT2 NMNAT1 LRAT
2
Show member pathways
12.32 RPE65 RDH12 LRAT GUCY2D
3
Show member pathways
11.95 NMNAT3 NMNAT2 NMNAT1
4
Show member pathways
11.64 NMNAT3 NMNAT2 NMNAT1
5 11.53 RPE65 RDH12 LRAT GUCY2D
6 11.51 TULP1 SPATA7 LCA5 CRX
7
Show member pathways
11.45 RPE65 RDH12 LRAT
8
Show member pathways
11.28 NMNAT3 NMNAT2 NMNAT1
9
Show member pathways
11.2 LRAT RDH12 RPE65
10 11.12 RPE65 RDH12 LRAT
11 10.39 RPE65 RDH12 LRAT
12 10.29 RPE65 RDH12 LRAT GUCY2D

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 for Leber Congenital Amaurosis 9

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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