Leber Hereditary Optic Neuropathy, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leber Hereditary Optic Neuropathy, Autosomal Recessive

MalaCards integrated aliases for Leber Hereditary Optic Neuropathy, Autosomal Recessive:

Name: Leber Hereditary Optic Neuropathy, Autosomal Recessive ⁵⁷ ⁷³ ²⁸ ⁵

Mitochondrial Complex I Deficiency, Nuclear Type 38 ⁵⁷ ⁷³

Mc1dn38 ⁵⁷ ⁷³

Lhonar ⁵⁷ ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
average age of onset 19.9 years
incomplete penetrance (male predominance)

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 619382

OMIM Phenotypic Series ⁵⁷ PS252010

MeSH ⁴³ D029242

MedGen ⁴⁰ C5543589 CN297341

SNOMED-CT via HPO ⁶⁹ 13164000 38950008 84884003

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Summaries for Leber Hereditary Optic Neuropathy, Autosomal Recessive

OMIM®: ⁵⁷ Autosomal recessive Leber hereditary optic neuropathy (LHONAR) is characterized by bilateral synchronous or asynchronous vision loss with variable recovery of visual acuity. The visual field defect is typically in the central visual field. The disorder shows incomplete penetrance and male predominance (Stenton et al., 2021). (619382) (Updated 08-Dec-2022)

MalaCards based summary: Leber Hereditary Optic Neuropathy, Autosomal Recessive, is also known as mitochondrial complex i deficiency, nuclear type 38. An important gene associated with Leber Hereditary Optic Neuropathy, Autosomal Recessive is DNAJC30 (DnaJ Heat Shock Protein Family (Hsp40) Member C30). Related phenotypes are central scotoma and reduced visual acuity

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance.

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Related Diseases for Leber Hereditary Optic Neuropathy, Autosomal Recessive

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Symptoms & Phenotypes for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Human phenotypes related to Leber Hereditary Optic Neuropathy, Autosomal Recessive:

³⁰

#	Description	HPO Frequency	HPO Source Accession
1	central scotoma ³⁰	Very rare (1%)	HP:0000603
2	reduced visual acuity ³⁰		HP:0007663
3	retinal telangiectasia ³⁰		HP:0007763
4	central retinal vessel vascular tortuosity ³⁰		HP:0007768
5	retinal nerve fiber edema ³⁰		HP:0020120

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
central scotoma
vision loss
central retinal vessel vascular tortuosity (acute phase)
circumpapillary telangiectatic microangiopathy (acute phase)
swelling of retinal nerve fiber layer (acute phase)
more

Clinical features from OMIM®:

619382 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Search Clinical Trials, NIH Clinical Center for Leber Hereditary Optic Neuropathy, Autosomal Recessive

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Genetic Tests for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Genetic tests related to Leber Hereditary Optic Neuropathy, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Leber Hereditary Optic Neuropathy, Autosomal Recessive ²⁸	DNAJC30

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Anatomical Context for Leber Hereditary Optic Neuropathy, Autosomal Recessive

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Publications for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Articles related to Leber Hereditary Optic Neuropathy, Autosomal Recessive:

#	Title	Authors	PMID	Year
1	DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. ⁵⁷ ⁵	Stenton SL...Prokisch H	35148383	2022
2	Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. ⁵⁷ ⁵	Stenton SL...Prokisch H	33465056	2021
3	Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family. ⁶²	Pojda-Wilczek D...Krawczynski MR	36359543	2022

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Genes for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Genes related to Leber Hereditary Optic Neuropathy, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DNAJC30	DnaJ Heat Shock Protein Family (Hsp40) Member C30	Protein Coding	1333.09	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	33465056 35148383

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Variations for Leber Hereditary Optic Neuropathy, Autosomal Recessive

ClinVar genetic disease variations for Leber Hereditary Optic Neuropathy, Autosomal Recessive:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	DNAJC30	NM_032317.3(DNAJC30):c.232C>T (p.Pro78Ser)	SNV	Pathogenic	1171026		GRCh37: 7:73097522-73097522 GRCh38: 7:73683192-73683192
2	DNAJC30	NM_032317.3(DNAJC30):c.302T>A (p.Leu101Gln)	SNV	Pathogenic	1171027		GRCh37: 7:73097452-73097452 GRCh38: 7:73683122-73683122
3	DNAJC30	NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)	SNV	Pathogenic/Likely Pathogenic	976691	rs61732167	GRCh37: 7:73097602-73097602 GRCh38: 7:73683272-73683272
4	DNAJC30	NM_032317.3(DNAJC30):c.293A>C (p.Tyr98Ser)	SNV	Likely Pathogenic	1299584		GRCh37: 7:73097461-73097461 GRCh38: 7:73683131-73683131

UniProtKB/Swiss-Prot genetic disease variations for Leber Hereditary Optic Neuropathy, Autosomal Recessive:

⁷³

#	Symbol	AA change	Variation ID
1	DNAJC30	p.Tyr51Cys	VAR_085951
2	DNAJC30	p.Pro78Ser	VAR_085952
3	DNAJC30	p.Leu101Gln	VAR_085953

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Expression for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Search GEO for disease gene expression data for Leber Hereditary Optic Neuropathy, Autosomal Recessive.

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Pathways for Leber Hereditary Optic Neuropathy, Autosomal Recessive

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GO Terms for Leber Hereditary Optic Neuropathy, Autosomal Recessive

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Sources for Leber Hereditary Optic Neuropathy, Autosomal Recessive

¹ BitterDB

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³⁶ LifeMap

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⁴⁰ MedGen

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⁵¹ NIH Clinical Center

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⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁶¹ PubChem

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⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LHONAR MCID: LBR039 MIFTS: 19	Leber Hereditary Optic Neuropathy, Autosomal Recessive (LHONAR) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Publications Symptoms & Phenotypes Expand all tables

Leber Hereditary Optic Neuropathy, Autosomal Recessive (LHONAR)

Aliases & Classifications for Leber Hereditary Optic Neuropathy, Autosomal Recessive

MalaCards integrated aliases for Leber Hereditary Optic Neuropathy, Autosomal Recessive:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Related Diseases for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Symptoms & Phenotypes for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Human phenotypes related to Leber Hereditary Optic Neuropathy, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Genetic Tests for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Genetic tests related to Leber Hereditary Optic Neuropathy, Autosomal Recessive:

Anatomical Context for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Publications for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Articles related to Leber Hereditary Optic Neuropathy, Autosomal Recessive:

Genes for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Genes related to Leber Hereditary Optic Neuropathy, Autosomal Recessive (1 elite genes):

Variations for Leber Hereditary Optic Neuropathy, Autosomal Recessive

ClinVar genetic disease variations for Leber Hereditary Optic Neuropathy, Autosomal Recessive:

UniProtKB/Swiss-Prot genetic disease variations for Leber Hereditary Optic Neuropathy, Autosomal Recessive:

Expression for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Pathways for Leber Hereditary Optic Neuropathy, Autosomal Recessive

GO Terms for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Sources for Leber Hereditary Optic Neuropathy, Autosomal Recessive