Leber Congenital Amaurosis 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leber Congenital Amaurosis 6

MalaCards integrated aliases for Leber Congenital Amaurosis 6:

Name: Leber Congenital Amaurosis 6 ⁵⁷ ¹² ⁵³ ⁷⁵ ²⁹ ¹³ ⁶ ¹⁵ ⁷³

Lca6 ⁵⁷ ¹² ⁵³ ⁷⁵

Leber Congenital Amaurosis, Type 6 ⁴⁰

Leber Congenital Amaurosis Type 6 ⁵³

Characteristics:

HPO:

³²

leber congenital amaurosis 6:
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 613826

Disease Ontology ¹² DOID:0110329

ICD10 ³³ H35.5

MedGen ⁴² C1854260

MeSH ⁴⁴ D057130

SNOMED-CT via HPO ⁶⁹ 258211005 128306009 193570009 more

UMLS ⁷³ C1854260

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Summaries for Leber Congenital Amaurosis 6

OMIM : ⁵⁷ Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (613826)

MalaCards based summary : Leber Congenital Amaurosis 6, also known as lca6, is related to pheochromocytoma. An important gene associated with Leber Congenital Amaurosis 6 is RPGRIP1 (RPGR Interacting Protein 1), and among its related pathways/superpathways are Amphetamine addiction and ATF-2 transcription factor network. Affiliated tissues include retina and eye, and related phenotypes are cataract and undetectable electroretinogram

Disease Ontology : ¹² A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has material basis in mutation in the RPGRIP1 gene on chromosome 14q11.

UniProtKB/Swiss-Prot : ⁷⁵ Leber congenital amaurosis 6: 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 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	pheochromocytoma	9.2	FOS TH

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Symptoms & Phenotypes for Leber Congenital Amaurosis 6

Clinical features from OMIM:

613826

Human phenotypes related to Leber Congenital Amaurosis 6:

³² (show all 8)

#	Description	HPO Source Accession
1	cataract ³²	HP:0000518
2	undetectable electroretinogram ³²	HP:0000550
3	keratoconus ³²	HP:0000563
4	photophobia ³²	HP:0000613
5	severe visual impairment ³²	HP:0001141
6	attenuation of retinal blood vessels ³²	HP:0007843
7	high hypermetropia ³²	HP:0008499
8	pendular nystagmus ³²	HP:0012043

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Drugs & Therapeutics for Leber Congenital Amaurosis 6

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 6

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Genetic Tests for Leber Congenital Amaurosis 6

Genetic tests related to Leber Congenital Amaurosis 6:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 6 ²⁹	RPGRIP1

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Anatomical Context for Leber Congenital Amaurosis 6

MalaCards organs/tissues related to Leber Congenital Amaurosis 6:

⁴¹

Retina, Eye

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Publications for Leber Congenital Amaurosis 6

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Genes for Leber Congenital Amaurosis 6

Genes related to Leber Congenital Amaurosis 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	1335.68	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	11283794 20301475 11528500 (more) 15800011 24997176
2	TH	Tyrosine Hydroxylase	Protein Coding	14.56	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	14.14	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	CLTB	Clathrin Light Chain B	Protein Coding	6.4	DISEASES inferred ¹⁵
5	MAP1LC3A	Microtubule Associated Protein 1 Light Chain 3 Alpha	Protein Coding	6.08	DISEASES inferred ¹⁵

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Variations for Leber Congenital Amaurosis 6

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 6:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	RPGRIP1	p.Gly746Glu	VAR_017833	rs61751268
2	RPGRIP1	p.Asp1114Gly	VAR_017836	rs17103671
3	RPGRIP1	p.His631Pro	VAR_067186
4	RPGRIP1	p.Val1211Glu	VAR_076823

ClinVar genetic disease variations for Leber Congenital Amaurosis 6:

⁶

(show all 34)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	RPGRIP1	RPGRIP1, 1-BP DEL, ASP1176	deletion	Pathogenic
2	RPGRIP1	NM_020366.3(RPGRIP1): c.194G> A (p.Trp65Ter)	single nucleotide variant	Pathogenic	rs137853124	GRCh37	Chromosome 14, 21762944: 21762944
3	RPGRIP1	NM_020366.3(RPGRIP1): c.194G> A (p.Trp65Ter)	single nucleotide variant	Pathogenic	rs137853124	GRCh38	Chromosome 14, 21294785: 21294785
4	RPGRIP1	RPGRIP1, 1-BP INS, GLN893	insertion	Pathogenic
5	RPGRIP1	RPGRIP1, 1-BP DEL, LYS342	deletion	Pathogenic
6	RPGRIP1	RPGRIP1, 3-BP DEL, 3835GAG	deletion	Pathogenic
7	RPGRIP1	NM_020366.3(RPGRIP1): c.1103delA (p.Glu370Asnfs)	deletion	Pathogenic	rs61751266	GRCh37	Chromosome 14, 21780617: 21780617
8	RPGRIP1	NM_020366.3(RPGRIP1): c.1103delA (p.Glu370Asnfs)	deletion	Pathogenic	rs61751266	GRCh38	Chromosome 14, 21312458: 21312458
9	RPGRIP1	NM_020366.3(RPGRIP1): c.1892A> T (p.His631Leu)	single nucleotide variant	Pathogenic	rs535922252	GRCh38	Chromosome 14, 21324747: 21324747
10	RPGRIP1	NM_020366.3(RPGRIP1): c.1892A> T (p.His631Leu)	single nucleotide variant	Pathogenic	rs535922252	GRCh37	Chromosome 14, 21792906: 21792906
11	RPGRIP1	NM_020366.3(RPGRIP1): c.3565_3571delCGAAGGC (p.Arg1189Glyfs)	deletion	Pathogenic	rs587783012	GRCh37	Chromosome 14, 21813304: 21813310
12	RPGRIP1	NM_020366.3(RPGRIP1): c.3565_3571delCGAAGGC (p.Arg1189Glyfs)	deletion	Pathogenic	rs587783012	GRCh38	Chromosome 14, 21345145: 21345151
13	RPGRIP1	NM_020366.3(RPGRIP1): c.832C> T (p.Arg278Ter)	single nucleotide variant	Pathogenic	rs587783018	GRCh37	Chromosome 14, 21775921: 21775921
14	RPGRIP1	NM_020366.3(RPGRIP1): c.832C> T (p.Arg278Ter)	single nucleotide variant	Pathogenic	rs587783018	GRCh38	Chromosome 14, 21307762: 21307762
15	RPGRIP1	NM_020366.3(RPGRIP1): c.2356C> T (p.Gln786Ter)	single nucleotide variant	Pathogenic	rs587783019	GRCh38	Chromosome 14, 21325372: 21325372
16	RPGRIP1	NM_020366.3(RPGRIP1): c.2356C> T (p.Gln786Ter)	single nucleotide variant	Pathogenic	rs587783019	GRCh37	Chromosome 14, 21793531: 21793531
17	RPGRIP1	NM_020366.3(RPGRIP1): c.900_906+14del21	deletion	Likely pathogenic	rs886039911	GRCh38	Chromosome 14, 21307830: 21307850
18	RPGRIP1	NM_020366.3(RPGRIP1): c.900_906+14del21	deletion	Likely pathogenic	rs886039911	GRCh37	Chromosome 14, 21775989: 21776009
19	RPGRIP1	NM_020366.3(RPGRIP1): c.2284C> T (p.Leu762=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145896974	GRCh37	Chromosome 14, 21793459: 21793459
20	RPGRIP1	NM_020366.3(RPGRIP1): c.2284C> T (p.Leu762=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145896974	GRCh38	Chromosome 14, 21325300: 21325300
21	RPGRIP1	NM_020366.3(RPGRIP1): c.3719G> A (p.Gly1240Glu)	single nucleotide variant	Benign/Likely benign	rs34725281	GRCh38	Chromosome 14, 21348273: 21348273
22	RPGRIP1	NM_020366.3(RPGRIP1): c.3719G> A (p.Gly1240Glu)	single nucleotide variant	Benign/Likely benign	rs34725281	GRCh37	Chromosome 14, 21816432: 21816432
23	RPGRIP1	NM_020366.3(RPGRIP1): c.2292G> A (p.Ala764=)	single nucleotide variant	Benign	rs35207255	GRCh38	Chromosome 14, 21325308: 21325308
24	RPGRIP1	NM_020366.3(RPGRIP1): c.2292G> A (p.Ala764=)	single nucleotide variant	Benign	rs35207255	GRCh37	Chromosome 14, 21793467: 21793467
25	RPGRIP1	NM_020366.3(RPGRIP1): c.1468-2A> G	single nucleotide variant	Pathogenic	rs751342895	GRCh37	Chromosome 14, 21789416: 21789416
26	RPGRIP1	NM_020366.3(RPGRIP1): c.1468-2A> G	single nucleotide variant	Pathogenic	rs751342895	GRCh38	Chromosome 14, 21321257: 21321257
27	RPGRIP1	NM_020366.3(RPGRIP1): c.2554C> T (p.Arg852Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 14, 21794176: 21794176
28	RPGRIP1	NM_020366.3(RPGRIP1): c.2554C> T (p.Arg852Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 14, 21326017: 21326017
29	RPGRIP1	NM_020366.3(RPGRIP1): c.3467_3468insCT (p.Glu1157Terfs)	insertion	Pathogenic	rs776698746	GRCh38	Chromosome 14, 21343163: 21343164
30	RPGRIP1	NM_020366.3(RPGRIP1): c.3467_3468insCT (p.Glu1157Terfs)	insertion	Pathogenic	rs776698746	GRCh37	Chromosome 14, 21811322: 21811323
31	RPGRIP1	NM_020366.3(RPGRIP1): c.2878G> C (p.Ala960Pro)	single nucleotide variant	Benign	rs35810926	GRCh37	Chromosome 14, 21795949: 21795949
32	RPGRIP1	NM_020366.3(RPGRIP1): c.2878G> C (p.Ala960Pro)	single nucleotide variant	Benign	rs35810926	GRCh38	Chromosome 14, 21327790: 21327790
33	RPGRIP1	NM_020366.3(RPGRIP1): c.3766C> G (p.Leu1256Val)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 14, 21819280: 21819280
34	RPGRIP1	NM_020366.3(RPGRIP1): c.3766C> G (p.Leu1256Val)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 14, 21351121: 21351121

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Expression for Leber Congenital Amaurosis 6

Search GEO for disease gene expression data for Leber Congenital Amaurosis 6.

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Pathways for Leber Congenital Amaurosis 6

Pathways related to Leber Congenital Amaurosis 6 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Amphetamine addiction ³⁷ Show member pathways Cocaine addiction ³⁷	11.02	FOS TH
2	ATF-2 transcription factor network ¹	10.36	FOS TH

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GO Terms for Leber Congenital Amaurosis 6

Cellular components related to Leber Congenital Amaurosis 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasmic vesicle membrane	GO:0030659	8.96	CLTB TH
2	cytoplasmic vesicle	GO:0031410	8.8	CLTB MAP1LC3A TH

Biological processes related to Leber Congenital Amaurosis 6 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	visual perception	GO:0007601	9.43	RPGRIP1 TH
2	response to lipopolysaccharide	GO:0032496	9.4	FOS TH
3	response to organic cyclic compound	GO:0014070	9.37	FOS TH
4	response to nutrient levels	GO:0031667	9.32	MAP1LC3A TH
5	response to light stimulus	GO:0009416	9.26	FOS TH
6	response to immobilization stress	GO:0035902	9.16	FOS TH
7	eye photoreceptor cell development	GO:0042462	8.96	RPGRIP1 TH
8	response to corticosterone	GO:0051412	8.62	FOS TH

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Sources for Leber Congenital Amaurosis 6

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⁷¹ TGDB

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⁷⁶ Wikipedia