LCA9
MCID: LBR019
MIFTS: 45

Leber Congenital Amaurosis 9 (LCA9)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

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:



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
UMLS 70 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 (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.

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:



Diseases related to Leber Congenital Amaurosis 9

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

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 29 NMNAT1

Anatomical Context for Leber Congenital Amaurosis 9

MalaCards organs/tissues related to Leber Congenital Amaurosis 9:

40
Retina, Eye, Bone

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
22842230 2012
2
NMNAT1 mutations cause Leber congenital amaurosis. 61 57 6
22842227 2012
3
Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36. 6 57 61
12734549 2003
4
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 57 6
22842229 2012
5
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. 61 6
26316326 2015
6
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. 61 6
26018082 2015
7
The genetic profile of Leber congenital amaurosis in an Australian cohort. 6
29178642 2017
8
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 6
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
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
24625443 2014
11
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. 6
24830548 2014
12
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. 6
24940029 2014
13
Genomic stability in reprogramming. 6
23040504 2012
14
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 6
22842231 2012
15
Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity. 57
17132048 2006
16
Relative frequency of inherited retinal dystrophies in Brazil. 61
30374144 2018
17
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. 61
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
28369829 2018
19
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. 61
27207593 2016
20
Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan. 61
20065226 2010
21
Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. 61
16082399 2006
22
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301475 2004

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

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 RPE65 RDH12 LRAT IMPDH1
2
Show member pathways
11.95 RPE65 RDH12 LRAT GUCY2D
3
Show member pathways
11.45 RPE65 RDH12 LRAT GUCY2D
4
Show member pathways
11.17 RPE65 RDH12 LRAT
5 10.98 RPE65 RDH12 LRAT
6 10.9 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 9.73 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 for Leber Congenital Amaurosis 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....