Leber Congenital Amaurosis 17 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LCA17 MCID: LBR029 MIFTS: 35	Leber Congenital Amaurosis 17 (LCA17) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Leber Congenital Amaurosis 17

MalaCards integrated aliases for Leber Congenital Amaurosis 17:

Name: Leber Congenital Amaurosis 17 ⁵⁷ ¹² ⁷² ²⁹ ⁶ ¹⁵ ⁷⁰

Lca17 ⁵⁷ ¹² ⁷²

Leber Congenital Amaurosis, Type 17 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
clinically unaffected heterozygotes may show changes on electroretinography
clinical features based on 1 reported family (last curated august 2013)

HPO:

³¹

leber congenital amaurosis 17:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹² DOID:0110217

OMIM® ⁵⁷ 615360

OMIM Phenotypic Series ⁵⁷ PS204000

MeSH ⁴⁴ D057130

ICD10 ³² H35.5

MedGen ⁴¹ C3715164 CN178541

SNOMED-CT via HPO ⁶⁸ 258211005

UMLS ⁷⁰ C3715164

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Summaries for Leber Congenital Amaurosis 17

UniProtKB/Swiss-Prot : ⁷² Leber congenital amaurosis 17: 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 almost absent pupillary responses, photophobia, high hyperopia and keratoconus.

MalaCards based summary : Leber Congenital Amaurosis 17, also known as lca17, is related to brachydactyly, type a1 and klippel-feil syndrome 1. An important gene associated with Leber Congenital Amaurosis 17 is GDF6 (Growth Differentiation Factor 6), and among its related pathways/superpathways are GPCR Pathway and PEDF Induced Signaling. Affiliated tissues include retina, eye and bone, and related phenotype is ultra-low vision with retained motion projection.

Disease Ontology : ¹² A Leber congenital amaurosis that has material basis in mutation in the GDF6 gene on chromosome 8q22.

More information from OMIM: 615360 PS204000

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Related Diseases for Leber Congenital Amaurosis 17

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

(show all 15)

#	Related Disease	Score	Top Affiliating Genes
1	brachydactyly, type a1	10.0	GDF6 GDF5
2	klippel-feil syndrome 1	10.0	GDF6 GDF5
3	klippel-feil syndrome	10.0	GDF6 GDF5
4	shoulder impingement syndrome	9.9	GDF7 GDF6
5	synostoses, tarsal, carpal, and digital	9.9	GDF6 GDF5
6	epicondylitis	9.9	GDF7 GDF6
7	bone deterioration disease	9.8	GDF6 GDF5
8	bone structure disease	9.7	GDF6 GDF5
9	microphthalmia, syndromic 6	9.7	GDF7 GDF6 BMP8A
10	du pan syndrome	9.6	PAEP GDF5
11	proximal symphalangism	9.5	PAEP GDF6 GDF5
12	multiple synostoses syndrome	9.5	PAEP GDF6 GDF5
13	brachydactyly, type a2	9.5	PAEP GDF6 GDF5
14	microphthalmia, isolated 4	9.0	PAEP GDF7 GDF6 GDF5 BMP8A
15	brachydactyly, type a1, c	8.9	PAEP GDF7 GDF6 GDF5 BMP8A

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 17:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 17

Human phenotypes related to Leber Congenital Amaurosis 17:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	ultra-low vision with retained motion projection ³¹	very rare (1%)	HP:0032284

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Eyes:
vision limited to detection of hand motion
extinguished responses on electroretinography

Clinical features from OMIM®:

615360 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Leber Congenital Amaurosis 17

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 17

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Genetic Tests for Leber Congenital Amaurosis 17

Genetic tests related to Leber Congenital Amaurosis 17:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 17 ²⁹	GDF6

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Anatomical Context for Leber Congenital Amaurosis 17

MalaCards organs/tissues related to Leber Congenital Amaurosis 17:

⁴⁰

Retina, Eye, Bone

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Publications for Leber Congenital Amaurosis 17

Articles related to Leber Congenital Amaurosis 17:

#	Title	Authors	PMID	Year
1	Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. ⁵⁷ ⁶	Asai-Coakwell M...Lehmann OJ	23307924	2013
2	Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. ⁶	Ye M...Lehmann OJ	19864492	2010
3	Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. ⁶	Asai-Coakwell M...Lehmann OJ	19129173	2009
4	Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. ⁶	Tassabehji M...Clarke RA	18425797	2008

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Genes for Leber Congenital Amaurosis 17

Genes related to Leber Congenital Amaurosis 17 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GDF6	Growth Differentiation Factor 6	Protein Coding	1326.28	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23307924
2	EPHA5	EPH Receptor A5	Protein Coding	6.12	DISEASES inferred ¹⁵
3	GDF5	Growth Differentiation Factor 5	Protein Coding	6.02	DISEASES inferred ¹⁵
4	BMP8A	Bone Morphogenetic Protein 8a	Protein Coding	5.64	DISEASES inferred ¹⁵
5	PAEP	Progestagen Associated Endometrial Protein	Protein Coding	5.49	DISEASES inferred ¹⁵
6	GDF7	Growth Differentiation Factor 7	Protein Coding	5.22	DISEASES inferred ¹⁵

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Variations for Leber Congenital Amaurosis 17

ClinVar genetic disease variations for Leber Congenital Amaurosis 17:

⁶ (show top 50) (show all 51)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GDF6	NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)	SNV	Pathogenic	8371	rs121909352	GRCh37: 8:97157413-97157413 GRCh38: 8:96145185-96145185
2	GDF6	NM_001001557.4(GDF6):c.169G>C (p.Asp57His)	SNV	Pathogenic	60534	rs397514725	GRCh37: 8:97172752-97172752 GRCh38: 8:96160524-96160524
3	GDF6	NM_001001557.4(GDF6):c.876G>Y (p.Glu292Asp)	SNV	Pathogenic	60533	rs1401531865	GRCh37: 8:97157283-97157283 GRCh38: 8:96145055-96145055
4	GDF6	NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr)	SNV	Pathogenic	30159	rs387906794	GRCh37: 8:97157564-97157564 GRCh38: 8:96145336-96145336
5	GDF6	NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val)	SNV	Uncertain significance	364042	rs140782427	GRCh37: 8:97156855-97156855 GRCh38: 8:96144627-96144627
6	GDF6	NM_001001557.4(GDF6):c.631G>A (p.Gly211Ser)	SNV	Uncertain significance	1034940		GRCh37: 8:97157528-97157528 GRCh38: 8:96145300-96145300
7	GDF6	NM_001001557.4(GDF6):c.883G>A (p.Glu295Lys)	SNV	Uncertain significance	1037153		GRCh37: 8:97157276-97157276 GRCh38: 8:96145048-96145048
8	GDF6	NM_001001557.4(GDF6):c.1322A>G (p.Tyr441Cys)	SNV	Uncertain significance	1043780		GRCh37: 8:97156837-97156837 GRCh38: 8:96144609-96144609
9	GDF6	NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu)	SNV	Uncertain significance	836995		GRCh37: 8:97157344-97157344 GRCh38: 8:96145116-96145116
10	GDF6	NM_001001557.4(GDF6):c.878T>C (p.Met293Thr)	SNV	Uncertain significance	959329		GRCh37: 8:97157281-97157281 GRCh38: 8:96145053-96145053
11	GDF6	NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly)	SNV	Uncertain significance	286405	rs886043381	GRCh37: 8:97157434-97157434 GRCh38: 8:96145206-96145206
12	GDF6	NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe)	SNV	Uncertain significance	968855		GRCh37: 8:97172559-97172559 GRCh38: 8:96160331-96160331
13	GDF6	NM_001001557.4(GDF6):c.460A>G (p.Met154Val)	SNV	Uncertain significance	835633		GRCh37: 8:97157699-97157699 GRCh38: 8:96145471-96145471
14	GDF6	NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu)	SNV	Uncertain significance	837877		GRCh37: 8:97157536-97157536 GRCh38: 8:96145308-96145308
15	GDF6	NM_001001557.4(GDF6):c.27G>A (p.Ser9=)	SNV	Uncertain significance	846167		GRCh37: 8:97172894-97172894 GRCh38: 8:96160666-96160666
16	GDF6	NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro)	SNV	Uncertain significance	853665		GRCh37: 8:97157731-97157731 GRCh38: 8:96145503-96145503
17	GDF6	NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr)	SNV	Uncertain significance	863448		GRCh37: 8:97172599-97172599 GRCh38: 8:96160371-96160371
18	GDF6	NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys)	SNV	Uncertain significance	954499		GRCh37: 8:97172616-97172616 GRCh38: 8:96160388-96160388
19	GDF6	NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys)	SNV	Uncertain significance	914077		GRCh37: 8:97172671-97172671 GRCh38: 8:96160443-96160443
20	GDF6	NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser)	SNV	Uncertain significance	958860		GRCh37: 8:97172668-97172668 GRCh38: 8:96160440-96160440
21	GDF6	NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg)	SNV	Uncertain significance	964319		GRCh37: 8:97157401-97157401 GRCh38: 8:96145173-96145173
22	GDF6	NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser)	SNV	Uncertain significance	1001816		GRCh37: 8:97156849-97156849 GRCh38: 8:96144621-96144621
23	GDF6	NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln)	SNV	Uncertain significance	1002016		GRCh37: 8:97157623-97157623 GRCh38: 8:96145395-96145395
24	GDF6	NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu)	SNV	Uncertain significance	1002101		GRCh37: 8:97157263-97157263 GRCh38: 8:96145035-96145035
25	GDF6	NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu)	SNV	Uncertain significance	1007576		GRCh37: 8:97157548-97157548 GRCh38: 8:96145320-96145320
26	GDF6	NM_001001557.4(GDF6):c.377C>T (p.Thr126Met)	SNV	Uncertain significance	1008100		GRCh37: 8:97172544-97172544 GRCh38: 8:96160316-96160316
27	GDF6	NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro)	SNV	Uncertain significance	1008463		GRCh37: 8:97172649-97172649 GRCh38: 8:96160421-96160421
28	GDF6	NM_001001557.4(GDF6):c.281C>G (p.Pro94Arg)	SNV	Uncertain significance	1009700		GRCh37: 8:97172640-97172640 GRCh38: 8:96160412-96160412
29	GDF6	NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro)	SNV	Uncertain significance	836171		GRCh37: 8:97172754-97172754 GRCh38: 8:96160526-96160526
30	GDF6	NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn)	SNV	Uncertain significance	939495		GRCh37: 8:97157374-97157374 GRCh38: 8:96145146-96145146
31	GDF6	NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys)	SNV	Uncertain significance	954246		GRCh37: 8:97157303-97157303 GRCh38: 8:96145075-96145075
32	GDF6	NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr)	SNV	Uncertain significance	962453		GRCh37: 8:97172698-97172698 GRCh38: 8:96160470-96160470
33	GDF6	NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu)	SNV	Uncertain significance	965244		GRCh37: 8:97172839-97172839 GRCh38: 8:96160611-96160611
34	GDF6	NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup)	Microsatellite	Uncertain significance	968900		GRCh37: 8:97157154-97157155 GRCh38: 8:96144926-96144927
35	GDF6	NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp)	SNV	Uncertain significance	1015372		GRCh37: 8:97172598-97172598 GRCh38: 8:96160370-96160370
36	GDF6	NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly)	SNV	Uncertain significance	1023649		GRCh37: 8:97157257-97157257 GRCh38: 8:96145029-96145029
37	GDF6	NM_001001557.4(GDF6):c.954C>T (p.Gly318=)	SNV	Uncertain significance	1023889		GRCh37: 8:97157205-97157205 GRCh38: 8:96144977-96144977
38	GDF6	NM_001001557.4(GDF6):c.1229T>G (p.Met410Arg)	SNV	Uncertain significance	1026389		GRCh37: 8:97156930-97156930 GRCh38: 8:96144702-96144702
39	GDF6	NM_001001557.4(GDF6):c.728G>T (p.Gly243Val)	SNV	Uncertain significance	1027057		GRCh37: 8:97157431-97157431 GRCh38: 8:96145203-96145203
40	GDF6	NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly)	Indel	Uncertain significance	836825		GRCh37: 8:97157156-97157157 GRCh38: 8:96144928-96144929
41	GDF6	NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser)	SNV	Uncertain significance	851090		GRCh37: 8:97172698-97172698 GRCh38: 8:96160470-96160470
42	GDF6	NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu)	SNV	Uncertain significance	939263		GRCh37: 8:97157289-97157289 GRCh38: 8:96145061-96145061
43	GDF6	NM_001001557.4(GDF6):c.96_98GTC[1] (p.Ser34del)	Microsatellite	Likely benign	470717	rs141468446	GRCh37: 8:97172820-97172822 GRCh38: 8:96160592-96160594
44	GDF6	NM_001001557.4(GDF6):c.24C>G (p.Leu8=)	SNV	Likely benign	707560	rs369859861	GRCh37: 8:97172897-97172897 GRCh38: 8:96160669-96160669
45	GDF6	NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg)	SNV	Likely benign	707574	rs139075817	GRCh37: 8:97172809-97172809 GRCh38: 8:96160581-96160581
46	GDF6	NM_001001557.4(GDF6):c.483G>T (p.Leu161=)	SNV	Likely benign	772997	rs200585226	GRCh37: 8:97157676-97157676 GRCh38: 8:96145448-96145448
47	GDF6	NM_001001557.4(GDF6):c.870C>T (p.Phe290=)	SNV	Likely benign	364045	rs765928590	GRCh37: 8:97157289-97157289 GRCh38: 8:96145061-96145061
48	GDF6	NM_001001557.4(GDF6):c.255G>T (p.Pro85=)	SNV	Benign	256847	rs112296824	GRCh37: 8:97172666-97172666 GRCh38: 8:96160438-96160438
49	GDF6	NM_001001557.4(GDF6):c.852C>G (p.Ser284=)	SNV	Benign	364046	rs74498875	GRCh37: 8:97157307-97157307 GRCh38: 8:96145079-96145079
50	GDF6	NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg)	SNV	Benign	364051	rs140579014	GRCh37: 8:97172565-97172565 GRCh38: 8:96160337-96160337

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 17:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	GDF6	p.Ala249Glu	VAR_046903	rs121909352
2	GDF6	p.Ala199Thr	VAR_065151	rs387906794
3	GDF6	p.Asp57His	VAR_070254	rs397514725
4	GDF6	p.Glu292Asp	VAR_070255	rs140153186

Sources

Expression for Leber Congenital Amaurosis 17

Search GEO for disease gene expression data for Leber Congenital Amaurosis 17.

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Pathways for Leber Congenital Amaurosis 17

Pathways related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	GPCR Pathway ⁶³ Show member pathways Breast Cancer Regulation by Stathmin1 ⁶³ Estrogen Pathway ⁶³ NFAT in Immune Response ⁶³ P2Y Receptor Signaling ⁶³ Pancreatic Adenocarcinoma ⁶³ Paxillin Interactions ⁶³ Ras Pathway ⁶³	13.23	GDF6 GDF5 EPHA5 BMP8A
2	PEDF Induced Signaling ⁶³ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶³ Cytokine-cytokine receptor interaction ³⁶ Endothelin-1 Signaling Pathway ⁶³ Glucocorticoid Receptor Signaling ⁶³ IL-6 Pathway ⁶³ MIF Mediated Glucocorticoid Regulation ⁶³ MIF Regulation of Innate Immune Cells ⁶³ NFAT Signaling and Lymphocyte Interactions ⁶³ PGC1Alpha Pathway ⁶³ RAR-Gamma-RXR-Alpha Degradation ⁶³ STAT3 Pathway ⁶³	13.14	GDF7 GDF6 GDF5 EPHA5 BMP8A
3	Activation of cAMP-Dependent PKA ⁶³ Show member pathways Activation of PKA through GPCR ⁶³ cAMP Pathway ⁶³ PKA Signaling ⁶³	13.09	GDF6 GDF5 EPHA5 BMP8A
4	TGF-Beta Pathway ⁶³ Show member pathways JAK-STAT Pathway ⁶³ JNK Pathway ⁶³ MAPK Family Pathway ⁶³ Regulation of eIF4 and p70S6K ⁶³ SOCS Pathway ⁶³	13.06	GDF6 GDF5 EPHA5 BMP8A
5	Akt Signaling ⁶³ Show member pathways p38 Signaling ⁶³ Tec Kinases Signaling ⁶³	12.96	GDF6 GDF5 EPHA5 BMP8A
6	CREB Pathway ⁶³ Show member pathways Activation of PKC through GPCR ⁶³ Intracellular Calcium Signaling ⁶³ IP3 Pathway ⁶³	12.86	GDF6 GDF5 EPHA5 BMP8A
7	Nanog in Mammalian ESC Pluripotency ⁶³ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶³ eNOS Signaling ⁶³ GSK3 Signaling ⁶³	12.81	GDF6 GDF5 EPHA5 BMP8A
8	Phospholipase-C Pathway ⁶³ Show member pathways PTEN Pathway ⁶³	12.62	GDF6 GDF5 BMP8A
9	p70S6K Signaling ⁶³ Show member pathways mTOR Pathway ⁶³ Renin-Angiotensin Pathway ⁶³	12.55	GDF6 GDF5 EPHA5 BMP8A
10	NF-KappaB Family Pathway ⁶³ Show member pathways NF-KappaB (p50-p65) Pathway ⁶³	12.29	GDF6 GDF5 BMP8A
11	G-protein signaling RAC1 in cellular process ²³ Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²³ RAC1 signaling pathway ¹	11.85	GDF6 GDF5 EPHA5 BMP8A
12	Immune response IFN alpha/beta signaling pathway ²³ Show member pathways Cytokine Network ⁶³ Interferon alpha/beta signaling ⁶⁵ Regulation of IFNA signaling ⁶⁵	11.82	GDF6 GDF5 BMP8A
13	Hippo signaling pathway ³⁶	11.45	GDF7 GDF6 GDF5 BMP8A
14	G-protein signaling_RhoA regulation pathway ²³	11.15	GDF6 GDF5 EPHA5 BMP8A
15	TGF-beta signaling pathway (KEGG) ³⁶	10.9	GDF7 GDF6 GDF5 BMP8A
16	G-protein signaling_Rap2B regulation pathway ²³	10.53	GDF6 GDF5 EPHA5 BMP8A

Sources

GO Terms for Leber Congenital Amaurosis 17

Cellular components related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.35	PAEP GDF7 GDF6 GDF5 BMP8A
2	extracellular space	GO:0005615	9.02	PAEP GDF7 GDF6 GDF5 BMP8A

Biological processes related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	multicellular organism development	GO:0007275	9.71	PAEP GDF6 EPHA5 BMP8A
2	positive regulation of neuron differentiation	GO:0045666	9.46	GDF7 GDF5
3	BMP signaling pathway	GO:0030509	9.46	GDF7 GDF6 GDF5 BMP8A
4	cartilage development	GO:0051216	9.43	GDF5 BMP8A
5	activin receptor signaling pathway	GO:0032924	9.37	GDF7 GDF6
6	positive regulation of chondrocyte differentiation	GO:0032332	9.32	GDF6 GDF5
7	pathway-restricted SMAD protein phosphorylation	GO:0060389	9.26	GDF7 GDF6
8	SMAD protein signal transduction	GO:0060395	9.26	GDF7 GDF6 GDF5 BMP8A
9	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	8.92	GDF7 GDF6 GDF5 BMP8A

Molecular functions related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytokine activity	GO:0005125	9.26	GDF7 GDF6 GDF5 BMP8A
2	growth factor activity	GO:0008083	8.92	GDF7 GDF6 GDF5 BMP8A

Sources

Sources for Leber Congenital Amaurosis 17

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

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Leber Congenital Amaurosis 17 (LCA17)

Aliases & Classifications for Leber Congenital Amaurosis 17

MalaCards integrated aliases for Leber Congenital Amaurosis 17:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis 17

Related Diseases for Leber Congenital Amaurosis 17

Diseases in the Leber Congenital Amaurosis 4 family:

Diseases related to Leber Congenital Amaurosis 17 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 17:

Symptoms & Phenotypes for Leber Congenital Amaurosis 17

Human phenotypes related to Leber Congenital Amaurosis 17:

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Genes related to Leber Congenital Amaurosis 17 (1 elite genes):

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UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 17:

Expression for Leber Congenital Amaurosis 17

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Pathways related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

GO Terms for Leber Congenital Amaurosis 17

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Molecular functions related to Leber Congenital Amaurosis 17 according to GeneCards Suite gene sharing:

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