MCID: LBR019
MIFTS: 39

Leber Congenital Amaurosis 9

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

Aliases & Classifications for Leber Congenital Amaurosis 9

MalaCards integrated aliases for Leber Congenital Amaurosis 9:

Name: Leber Congenital Amaurosis 9 57 12 53 75 29 13 6 15 73
Lca9 57 12 53 75
Amaurosis Congenita of Leber, Type 9 53
Leber Congenital Amaurosis, Type 9 40
Leber Congenital Amaurosis Type 9 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
visual impairment is present at birth and is progressive


HPO:

32
leber congenital amaurosis 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608553
Disease Ontology 12 DOID:0110005
ICD10 33 H35.5
MedGen 42 C1837873
MeSH 44 D057130
UMLS 73 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)

MalaCards based summary : Leber Congenital Amaurosis 9, also known as lca9, is related to retinal degeneration and leber congenital amaurosis. An important gene associated with Leber Congenital Amaurosis 9 is NMNAT1 (Nicotinamide Nucleotide Adenylyltransferase 1), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina, bone and eye, and related phenotypes are nystagmus and optic atrophy

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

UniProtKB/Swiss-Prot : 75 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 family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 4
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

Diseases related to Leber Congenital Amaurosis 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 retinal degeneration 26.6 AIPL1 CRB1 CRX GUCY2D RPE65 RPGRIP1
2 leber congenital amaurosis 24.0 AIPL1 CRB1 CRX GUCY2D LCA5 NMNAT1
3 severe early-childhood-onset retinal dystrophy 10.2 LCA5 RPE65
4 hereditary retinal dystrophy 10.1 GUCY2D LCA5
5 leber congenital amaurosis 3 10.0 LCA5 RDH12 RPGRIP1
6 hereditary choroidal atrophy 9.9 AIPL1 GUCY2D
7 retinitis 9.9
8 leber congenital amaurosis 12 9.9 GUCY2D RPE65
9 partial central choroid dystrophy 9.8 AIPL1 GUCY2D
10 yemenite deaf-blind hypopigmentation syndrome 9.7 AIPL1 GUCY2D RPE65
11 stargardt disease 9.7 CRB1 RDH12 RPE65
12 retinoschisis 1, x-linked, juvenile 9.5 CRB1 CRX RPE65
13 enhanced s-cone syndrome 9.5 AIPL1 CRX
14 prolonged electroretinal response suppression 9.4 CRB1 CRX GUCY2D
15 leber congenital amaurosis 4 9.0 AIPL1 CRX GUCY2D RPE65
16 keratoconus 8.5 AIPL1 CRB1 CRX GUCY2D RPE65
17 achromatopsia 3 7.8 AIPL1 CRB1 CRX GUCY2D RPE65 RPGRIP1
18 cone-rod dystrophy 2 7.8 AIPL1 CRB1 CRX GUCY2D RPE65 RPGRIP1
19 retinal disease 7.4 AIPL1 CRB1 CRX GUCY2D RDH12 RPE65
20 fundus dystrophy 6.7 AIPL1 CRB1 CRX GUCY2D LCA5 NMNAT1
21 retinitis pigmentosa 6.7 AIPL1 CRB1 CRX GUCY2D LCA5 NMNAT1

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic disc pallor
macular coloboma
attenuation of retinal blood vessels
hyperopia
more

Clinical features from OMIM:

608553

Human phenotypes related to Leber Congenital Amaurosis 9:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 optic atrophy 32 HP:0000648
3 photophobia 32 occasional (7.5%) HP:0000613
4 nyctalopia 32 occasional (7.5%) HP:0000662
5 optic disc pallor 32 HP:0000543
6 hypermetropia 32 HP:0000540
7 macular coloboma 32 HP:0001116
8 attenuation of retinal blood vessels 32 HP:0007843

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.9 AIPL1 CCDC66 CRB1 CRX GUCY2D LCA5
2 pigmentation MP:0001186 9.43 CRB1 CRX LCA5 NMNAT1 RPE65 TULP1
3 vision/eye MP:0005391 9.36 RPE65 RPGRIP1 TULP1 AIPL1 CCDC66 CRB1

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:

41
Retina, Bone, Eye

Publications for Leber Congenital Amaurosis 9

Variations for Leber Congenital Amaurosis 9

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

75 (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
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
27 NMNAT1 p.Glu257Lys VAR_068882 rs150726175
28 NMNAT1 p.Asn273Asp VAR_068883 rs387907291

ClinVar genetic disease variations for Leber Congenital Amaurosis 9:

6
(show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 NMNAT1 NM_022787.3(NMNAT1): c.838T> C (p.Ter280Gln) single nucleotide variant Pathogenic rs387907290 GRCh37 Chromosome 1, 10042757: 10042757
2 NMNAT1 NM_022787.3(NMNAT1): c.838T> C (p.Ter280Gln) single nucleotide variant Pathogenic rs387907290 GRCh38 Chromosome 1, 9982699: 9982699
3 NMNAT1 NM_022787.3(NMNAT1): c.619C> T (p.Arg207Trp) single nucleotide variant Pathogenic rs142968179 GRCh37 Chromosome 1, 10042538: 10042538
4 NMNAT1 NM_022787.3(NMNAT1): c.619C> T (p.Arg207Trp) single nucleotide variant Pathogenic rs142968179 GRCh38 Chromosome 1, 9982480: 9982480
5 NMNAT1 NM_022787.3(NMNAT1): c.769G> A (p.Glu257Lys) single nucleotide variant Pathogenic rs150726175 GRCh37 Chromosome 1, 10042688: 10042688
6 NMNAT1 NM_022787.3(NMNAT1): c.769G> A (p.Glu257Lys) single nucleotide variant Pathogenic rs150726175 GRCh38 Chromosome 1, 9982630: 9982630
7 NMNAT1 NM_022787.3(NMNAT1): c.817A> G (p.Asn273Asp) single nucleotide variant Pathogenic rs387907291 GRCh37 Chromosome 1, 10042736: 10042736
8 NMNAT1 NM_022787.3(NMNAT1): c.817A> G (p.Asn273Asp) single nucleotide variant Pathogenic rs387907291 GRCh38 Chromosome 1, 9982678: 9982678
9 NMNAT1 NM_022787.3(NMNAT1): c.451G> T (p.Val151Phe) single nucleotide variant Pathogenic rs387907292 GRCh37 Chromosome 1, 10042370: 10042370
10 NMNAT1 NM_022787.3(NMNAT1): c.451G> T (p.Val151Phe) single nucleotide variant Pathogenic rs387907292 GRCh38 Chromosome 1, 9982312: 9982312
11 NMNAT1 NMNAT1, TRP169TER undetermined variant Pathogenic
12 NMNAT1 NM_022787.3(NMNAT1): c.710G> T (p.Arg237Leu) single nucleotide variant Pathogenic rs368062092 GRCh37 Chromosome 1, 10042629: 10042629
13 NMNAT1 NM_022787.3(NMNAT1): c.710G> T (p.Arg237Leu) single nucleotide variant Pathogenic rs368062092 GRCh38 Chromosome 1, 9982571: 9982571
14 NMNAT1 NM_022787.3(NMNAT1): c.457C> G (p.Leu153Val) single nucleotide variant Pathogenic rs387907293 GRCh37 Chromosome 1, 10042376: 10042376
15 NMNAT1 NM_022787.3(NMNAT1): c.457C> G (p.Leu153Val) single nucleotide variant Pathogenic rs387907293 GRCh38 Chromosome 1, 9982318: 9982318
16 NMNAT1 NM_022787.3(NMNAT1): c.25G> A (p.Val9Met) single nucleotide variant Pathogenic rs387907294 GRCh37 Chromosome 1, 10032156: 10032156
17 NMNAT1 NM_022787.3(NMNAT1): c.25G> A (p.Val9Met) single nucleotide variant Pathogenic rs387907294 GRCh38 Chromosome 1, 9972098: 9972098
18 NMNAT1 NC_000001.11: g.(?_9981011)_(9982721_?)del deletion Pathogenic GRCh38 Chromosome 1, 9981011: 9982721
19 NMNAT1 NC_000001.11: g.(?_9981011)_(9982721_?)del deletion Pathogenic GRCh37 Chromosome 1, 10041069: 10042779
20 NMNAT1 NM_022787.3(NMNAT1): c.827A> C (p.Glu276Ala) single nucleotide variant Likely benign rs147220828 GRCh37 Chromosome 1, 10042746: 10042746
21 NMNAT1 NM_022787.3(NMNAT1): c.827A> C (p.Glu276Ala) single nucleotide variant Likely benign rs147220828 GRCh38 Chromosome 1, 9982688: 9982688
22 NMNAT1 NM_022787.3(NMNAT1): c.716T> C (p.Leu239Ser) single nucleotide variant Pathogenic rs778606847 GRCh38 Chromosome 1, 9982577: 9982577
23 NMNAT1 NM_022787.3(NMNAT1): c.716T> C (p.Leu239Ser) single nucleotide variant Pathogenic rs778606847 GRCh37 Chromosome 1, 10042635: 10042635
24 NMNAT1 NM_022787.3(NMNAT1): c.115+3A> G single nucleotide variant Likely benign rs181504239 GRCh38 Chromosome 1, 9972191: 9972191
25 NMNAT1 NM_022787.3(NMNAT1): c.115+3A> G single nucleotide variant Likely benign rs181504239 GRCh37 Chromosome 1, 10032249: 10032249

Expression for Leber Congenital Amaurosis 9

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

Pathways for Leber Congenital Amaurosis 9

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 cilium GO:0005929 9.13 LCA5 RPGRIP1 TULP1
2 photoreceptor inner segment GO:0001917 8.8 AIPL1 CRB1 TULP1

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

# Name GO ID Score Top Affiliating Genes
1 retina development in camera-type eye GO:0060041 9.54 RPE65 RPGRIP1 TULP1
2 retina homeostasis GO:0001895 9.5 AIPL1 RPE65 TULP1
3 response to stimulus GO:0050896 9.5 AIPL1 CRX GUCY2D RDH12 RPE65 RPGRIP1
4 retinoid metabolic process GO:0001523 9.46 RDH12 RPE65
5 photoreceptor cell maintenance GO:0045494 9.43 RDH12 TULP1
6 eye photoreceptor cell development GO:0042462 9.43 CRB1 RPGRIP1 TULP1
7 retinol metabolic process GO:0042572 9.4 RDH12 RPE65
8 detection of light stimulus involved in visual perception GO:0050908 9.33 CCDC66 RPE65 TULP1
9 visual perception GO:0007601 9.17 AIPL1 CRX GUCY2D RDH12 RPE65 RPGRIP1

Sources for Leber Congenital Amaurosis 9

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17 ExPASy
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74 UMLS via Orphanet
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