Details of Disease

General Information of Disease (ID: DISGE06V)

Disease Name Maternally-inherited Leigh syndrome
Synonyms
Subacute necrotizing encephalomyelopathy maternally inherited; Leigh disease, maternally inherited; mitochondrial DNA-associated Leigh syndrome; maternally inherited Leigh syndrome; maternally-inherited Leigh disease; MILS; maternally-inherited infantile subacute necrotizing encephalopathy
Definition
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
Disease Hierarchy
DISWQU45: Leigh syndrome
DISGE06V: Maternally-inherited Leigh syndrome
Disease Identifiers
MONDO ID
MONDO_0016814
MESH ID
C536035
UMLS CUI
C2931092
MedGen ID
443976
Orphanet ID
255210
SNOMED CT ID
717052002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NPTX2 TTNJ5A6 Strong Biomarker [1]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ND3 OT1OC3K3 Limited GermlineCausalMutation [2]
MT-ND1 OTCLGIXV Supportive Mitochondrial [3]
ATP6 OTPHOGLX Strong Genetic Variation [1]
ND2 OTG9OHOX Strong GermlineCausalMutation [4]
ND4 OT4RQVAA Strong GermlineCausalMutation [5]
ND5 OT45LW1K Strong GermlineCausalMutation [6]
ND6 OTG47B7B Strong GermlineCausalMutation [7]
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⏷ Show the Full List of 7 DOT(s)

References

1 Functional investigation of an universally conserved leucine residue in subunit a of ATP synthase targeted by the pathogenic m.9176T>G mutation.Biochim Biophys Acta Bioenerg. 2019 Jan;1860(1):52-59. doi: 10.1016/j.bbabio.2018.11.005. Epub 2018 Nov 7.
2 The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.Dev Med Child Neurol. 2012 Jun;54(6):500-6. doi: 10.1111/j.1469-8749.2012.04224.x. Epub 2012 Feb 27.
3 Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
4 Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.Mol Genet Metab. 2007 Jan;90(1):10-4. doi: 10.1016/j.ymgme.2006.08.003. Epub 2006 Sep 22.
5 Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees.Neuromolecular Med. 2010 Sep;12(3):277-84. doi: 10.1007/s12017-010-8115-9. Epub 2010 May 26.
6 Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.Ann Neurol. 2003 Oct;54(4):473-8. doi: 10.1002/ana.10687.
7 Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.Am J Med Genet A. 2013 Aug;161A(8):2020-3. doi: 10.1002/ajmg.a.36000. Epub 2013 Jun 27.