LHONAR
MCID: LBR039
MIFTS: 19

Leber Hereditary Optic Neuropathy, Autosomal Recessive (LHONAR)

Categories: Eye diseases, Genetic diseases, Neuronal diseases
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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:



External Ids:

OMIM® 57 619382
OMIM Phenotypic Series 57 PS252010
MeSH 43 D029242
SNOMED-CT via HPO 69 13164000 38950008 84884003

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.

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:

30
# Description HPO Frequency Orphanet 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)

Drugs & Therapeutics for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Search Clinical Trials, NIH Clinical Center 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:

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

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:

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

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 SNP ID
1 DNAJC30 p.Tyr51Cys VAR_085951
2 DNAJC30 p.Pro78Ser VAR_085952
3 DNAJC30 p.Leu101Gln VAR_085953

Expression for Leber Hereditary Optic Neuropathy, Autosomal Recessive

Search GEO for disease gene expression data 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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