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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

OMIM ⁵⁷ 608553

Disease Ontology ¹² DOID:0110005

ICD10 ³³ H35.5

MedGen ⁴² C1837873

MeSH ⁴⁴ D057130

SNOMED-CT via HPO ⁶⁹ 258211005 38101003 302200001 more

UMLS ⁷³ 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)

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.

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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:

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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

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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:

⁴¹

Retina, Bone, Eye

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Publications for Leber Congenital Amaurosis 9

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Genes for Leber Congenital Amaurosis 9

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

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NMNAT1	Nicotinamide Nucleotide Adenylyltransferase 1	Protein Coding	1359.48	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Summaries Variants (show sections)	12734549 22842230 20301475 (more) 22842229 22842231 22842227
1	NMNAT1::GH01J009942	TSS distance: +0.3kb Elite enhancer with elite association with NMNAT1			Curated enhancer-disease association ²³ ( 27569544 )	26316326
2	LCA5	LCA5, Lebercilin	Protein Coding	17.1	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	TULP1	Tubby Like Protein 1	Protein Coding	16.62	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	16.49	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	16.44	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	CRB1	Crumbs 1, Cell Polarity Complex Component	Protein Coding	16.03	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	RDH12	Retinol Dehydrogenase 12	Protein Coding	15.81	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	RPE65	RPE65, Retinoid Isomerohydrolase	Protein Coding	15.67	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	15.28	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	CRX	Cone-Rod Homeobox	Protein Coding	15.07	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	CCDC66	Coiled-Coil Domain Containing 66	Protein Coding	7.09	DISEASES inferred ¹⁵
12	RBP7	Retinol Binding Protein 7	Protein Coding	6.97	DISEASES inferred ¹⁵

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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

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Expression for Leber Congenital Amaurosis 9

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

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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	Metabolism of fat-soluble vitamins ⁶⁶ Show member pathways Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ Visual phototransduction ⁶⁶ Vitamin D (calciferol) metabolism ⁶⁶	11.76	GUCY2D RDH12 RPE65
2	Phototransduction ³⁷ Show member pathways Activation of the phototransduction cascade ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ The phototransduction cascade ⁶⁶ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.52	GUCY2D RDH12 RPE65
3	the visual cycle I (vertebrates) ¹ Show member pathways retinol biosynthesis ¹ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	11.06	RDH12 RPE65
4	Visual Cycle in Retinal Rods ⁶⁴	10.9	GUCY2D RBP7 RDH12 RPE65
5	Vitamin A and Carotenoid Metabolism ¹	10.78	RBP7 RDH12 RPE65

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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

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