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

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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 ⁷⁵ ²⁹ ⁶ ¹⁵ ⁷³

Lca17 ⁵⁷ ¹² ⁷⁵

Leber Congenital Amaurosis, Type 17 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

leber congenital amaurosis 17:
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 615360

Disease Ontology ¹² DOID:0110217

ICD10 ³³ H35.5

MedGen ⁴² C3715164 CN178541

MeSH ⁴⁴ D057130

SNOMED-CT via HPO ⁶⁹ 258211005

UMLS ⁷³ C3715164

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Summaries for Leber Congenital Amaurosis 17

UniProtKB/Swiss-Prot : ⁷⁵ 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, is also known as lca17. An important gene associated with Leber Congenital Amaurosis 17 is GDF6 (Growth Differentiation Factor 6), and among its related pathways/superpathways is p70S6K Signaling. Affiliated tissues include retina and eye.

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

Description from OMIM: 615360

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Related Diseases for Leber Congenital Amaurosis 17

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

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Symptoms & Phenotypes for Leber Congenital Amaurosis 17

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

615360

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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:

⁴¹

Retina, Eye

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Publications for Leber Congenital Amaurosis 17

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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	PubmedIds
1	GDF6	Growth Differentiation Factor 6	Protein Coding	1328.75	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23307924
2	EPHA5	EPH Receptor A5	Protein Coding	17.01	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	SCGB1D1	Secretoglobin Family 1D Member 1	Protein Coding	7.27	DISEASES inferred ¹⁵

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Variations for Leber Congenital Amaurosis 17

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

⁷⁵

#	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

ClinVar genetic disease variations for Leber Congenital Amaurosis 17:

⁶

(show all 11)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GDF6	NM_001001557.3(GDF6): c.595G> A (p.Ala199Thr)	single nucleotide variant	Pathogenic	rs387906794	GRCh37	Chromosome 8, 97157564: 97157564
2	GDF6	NM_001001557.3(GDF6): c.595G> A (p.Ala199Thr)	single nucleotide variant	Pathogenic	rs387906794	GRCh38	Chromosome 8, 96145336: 96145336
3	GDF6	NM_001001557.3: c.876G> Y	single nucleotide variant	Pathogenic
4	GDF6	NM_001001557.3(GDF6): c.169G> C (p.Asp57His)	single nucleotide variant	Pathogenic	rs397514725	GRCh37	Chromosome 8, 97172752: 97172752
5	GDF6	NM_001001557.3(GDF6): c.169G> C (p.Asp57His)	single nucleotide variant	Pathogenic	rs397514725	GRCh38	Chromosome 8, 96160524: 96160524
6	GDF6	NM_001001557.3(GDF6): c.936G> C (p.Ser312=)	single nucleotide variant	Benign/Likely benign	rs148861809	GRCh37	Chromosome 8, 97157223: 97157223
7	GDF6	NM_001001557.3(GDF6): c.936G> C (p.Ser312=)	single nucleotide variant	Benign/Likely benign	rs148861809	GRCh38	Chromosome 8, 96144995: 96144995
8	GDF6	NM_001001557.3(GDF6): c.255G> T (p.Pro85=)	single nucleotide variant	Benign/Likely benign	rs112296824	GRCh38	Chromosome 8, 96160438: 96160438
9	GDF6	NM_001001557.3(GDF6): c.255G> T (p.Pro85=)	single nucleotide variant	Benign/Likely benign	rs112296824	GRCh37	Chromosome 8, 97172666: 97172666
10	GDF6	NM_001001557.3(GDF6): c.99_101delGTC (p.Ser34del)	deletion	Likely benign	rs141468446	GRCh37	Chromosome 8, 97172820: 97172822
11	GDF6	NM_001001557.3(GDF6): c.99_101delGTC (p.Ser34del)	deletion	Likely benign	rs141468446	GRCh38	Chromosome 8, 96160592: 96160594

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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:

#	Super pathways	Score	Top Affiliating Genes
1	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	11.5	EPHA5 GDF6

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GO Terms for Leber Congenital Amaurosis 17

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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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia