Details of Disease

General Information of Disease (ID: DISABU9D)

Disease Name Obsolete Leigh syndrome with leukodystrophy
Synonyms infantile subacute necrotizing encephalopathy with leukodystrophy; Leigh disease with leukodystrophy
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DISABU9D: Obsolete Leigh syndrome with leukodystrophy

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NDUFA13 TTRU1NG Supportive Autosomal recessive [1]
NDUFAF2 TTCHGVF Supportive Autosomal recessive [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC19A3 DT39CEA Supportive Autosomal recessive [3]
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This Disease Is Related to 3 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
NDUFS2 DEKX5CD Supportive Autosomal recessive [4]
NDUFS3 DE741FI Supportive Autosomal recessive [5]
NDUFS7 DEIW03B Supportive Autosomal recessive [6]
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This Disease Is Related to 28 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COX15 OTUIYHIW Supportive Autosomal recessive [7]
ECHS1 OTS0593S Supportive Autosomal recessive [8]
FOXRED1 OTYEB8YK Supportive Autosomal recessive [2]
LIPT1 OT2KCI00 Supportive Autosomal recessive [9]
MTFMT OT1OIVJL Supportive Autosomal recessive [10]
NDUFA10 OTBURQ3A Supportive Autosomal recessive [11]
NDUFA12 OTCD6I5M Supportive Autosomal recessive [12]
NDUFA13 OT0UOKIT Supportive Autosomal recessive [1]
NDUFA2 OTNSTATK Supportive Autosomal recessive [13]
NDUFA4 OTDVH3QG Supportive Autosomal recessive [14]
NDUFA9 OTMKQJJ8 Supportive Autosomal recessive [15]
NDUFAF2 OTC8QPRS Supportive Autosomal recessive [2]
NDUFAF5 OTN5V274 Supportive Autosomal recessive [16]
NDUFAF6 OTRJMIGT Supportive Autosomal recessive [17]
NDUFS1 OTTIZDFR Supportive Autosomal recessive [18]
NDUFS2 OTBT8KW9 Supportive Autosomal recessive [4]
NDUFS3 OTX61TQQ Supportive Autosomal recessive [5]
NDUFS4 OTJKUYEE Supportive Autosomal recessive [19]
NDUFS7 OTIRMB2O Supportive Autosomal recessive [6]
NDUFS8 OTMEAWKO Supportive Autosomal recessive [20]
NDUFV1 OTEVK4WW Supportive Autosomal recessive [21]
NDUFV2 OTSZF7D6 Supportive Autosomal recessive [22]
PDHA1 OTGEU8IK Supportive Autosomal recessive [23]
PET100 OTQ0J3DT Supportive Autosomal recessive [24]
SDHA OTOJ8QFF Supportive Autosomal recessive [25]
SLC19A3 OTOWP1CT Supportive Autosomal recessive [3]
SURF1 OTAINRSS Supportive Autosomal recessive [26]
TACO1 OTK1WUBL Supportive Autosomal recessive [27]
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⏷ Show the Full List of 28 DOT(s)

References

1 Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. Hum Mol Genet. 2015 Jul 15;24(14):3948-55. doi: 10.1093/hmg/ddv133. Epub 2015 Apr 21.
2 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet. 2010 Oct;42(10):851-8. doi: 10.1038/ng.659. Epub 2010 Sep 5.
3 Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18.
4 Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. Gene. 2013 Mar 1;516(1):162-7. doi: 10.1016/j.gene.2012.12.024. Epub 2012 Dec 22.
5 Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet. 2004 Jan;41(1):14-7. doi: 10.1136/jmg.2003.014316.
6 A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome. Mol Genet Metab. 2007 Apr;90(4):379-82. doi: 10.1016/j.ymgme.2006.12.007. Epub 2007 Feb 1.
7 Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome. J Med Genet. 2004 Jul;41(7):540-4. doi: 10.1136/jmg.2003.017426.
8 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. Hum Mutat. 2015 Feb;36(2):232-9. doi: 10.1002/humu.22730.
9 Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet J Rare Dis. 2013 Dec 17;8:192. doi: 10.1186/1750-1172-8-192.
10 Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet. 2012 Apr;49(4):277-83. doi: 10.1136/jmedgenet-2012-100846.
11 NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. Eur J Hum Genet. 2011 Mar;19(3):270-4. doi: 10.1038/ejhg.2010.204. Epub 2010 Dec 8.
12 Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. J Med Genet. 2011 Nov;48(11):737-40. doi: 10.1136/jmg.2011.088856. Epub 2011 May 26.
13 NDUFA2 complex I mutation leads to Leigh disease. Am J Hum Genet. 2008 Jun;82(6):1306-15. doi: 10.1016/j.ajhg.2008.05.007.
14 NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. Cell Rep. 2013 Jun 27;3(6):1795-805. doi: 10.1016/j.celrep.2013.05.005. Epub 2013 Jun 6.
15 Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. J Med Genet. 2012 Jan;49(1):10-5. doi: 10.1136/jmedgenet-2011-100466. Epub 2011 Nov 23.
16 Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. J Med Genet. 2010 Aug;47(8):507-12. doi: 10.1136/jmg.2009.067553. Epub 2009 Jun 18.
17 A mitochondrial protein compendium elucidates complex I disease biology. Cell. 2008 Jul 11;134(1):112-23. doi: 10.1016/j.cell.2008.06.016.
18 Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. Arch Neurol. 2005 Apr;62(4):659-61. doi: 10.1001/archneur.62.4.659.
19 A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S461-7. doi: 10.1007/s10545-008-1049-9. Epub 2008 Dec 26.
20 Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. Neurology. 2004 May 25;62(10):1899-901. doi: 10.1212/01.wnl.0000125251.56131.65.
21 A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome. Clin Genet. 2012 Sep;82(3):264-70. doi: 10.1111/j.1399-0004.2011.01743.x. Epub 2011 Jul 18.
22 Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. Eur J Paediatr Neurol. 2015 Sep;19(5):525-32. doi: 10.1016/j.ejpn.2015.05.002. Epub 2015 May 14.
23 Molecular genetic characterization of an X-linked form of Leigh's syndrome. Ann Neurol. 1993 Jun;33(6):652-5. doi: 10.1002/ana.410330616.
24 A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. Am J Hum Genet. 2014 Feb 6;94(2):209-22. doi: 10.1016/j.ajhg.2013.12.015. Epub 2014 Jan 23.
25 Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). J Neurol Neurosurg Psychiatry. 2006 Jan;77(1):74-6. doi: 10.1136/jnnp.2005.067041.
26 SURF1 deficiency: a multi-centre natural history study. Orphanet J Rare Dis. 2013 Jul 5;8:96. doi: 10.1186/1750-1172-8-96.
27 Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat Genet. 2009 Jul;41(7):833-7. doi: 10.1038/ng.390. Epub 2009 Jun 7.