Details of Disease

Disease Name

Sengers syndrome

mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type); congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; cardiomyopathic mitochondrial DNA depletion syndrome 10; cardiomyopathy and cataract; cataract and cardiomyopathy; Sengers syndrome; mitochondrial DNA depletion syndrome 10

Definition

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

Disease Hierarchy

DISIGZSM: Mitochondrial DNA depletion syndrome

DISMT2VZ: Cardiogenetic disease

DISHNY7Q: Mitochondrial substrate carrier disorder

DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis

DISV24KG: Sengers syndrome

Disease Identifiers

MONDO ID

MONDO_0008922

MESH ID

C538280

UMLS CUI

C1859317

OMIM ID

212350

MedGen ID

395228

Orphanet ID

1369

SNOMED CT ID

717812000

General Information of Disease (ID: DISV24KG)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AGK	TTJETQC	Limited	Genetic Variation	[1]
CS	TTZA6B3	Strong	Biomarker	[2]
SLC25A4	TTU5A6Q	Strong	GermlineCausalMutation	[3]
AGK	TTJETQC	Definitive	Autosomal recessive	[4]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A4	DTPTFKU	Supportive	Autosomal recessive	[3]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TKFC	DEX9ZJQ	Supportive	Autosomal recessive	[5]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC25A4	OTKYLK2J	Supportive	Autosomal recessive	[3]
TKFC	OTTWXIOI	Supportive	Autosomal recessive	[5]
EPG5	OT3P5HQD	Strong	Genetic Variation	[6]
TIMM22	OTJMHX1V	Strong	Biomarker	[7]
AGK	OTJGWBYT	Definitive	Autosomal recessive	[4]
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References

1	Mutation in the AGK gene in two siblings with unusual Sengers syndrome.Metab Brain Dis. 2017 Dec;32(6):2149-2154. doi: 10.1007/s11011-017-0101-6. Epub 2017 Sep 3.
2	Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.Mol Genet Metab. 2013 Jan;108(1):40-50. doi: 10.1016/j.ymgme.2012.11.282. Epub 2012 Dec 3.
3	Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. J Med Genet. 2012 Feb;49(2):146-50. doi: 10.1136/jmedgenet-2011-100504. Epub 2011 Dec 20.
4	[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease]. Klin Monbl Augenheilkd. 1986 Dec;189(6):482-5.
5	Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. Am J Hum Genet. 2020 Feb 6;106(2):256-263. doi: 10.1016/j.ajhg.2020.01.005. Epub 2020 Jan 30.
6	EPG5 c.1007A>G mutation in a sibling pair with rapidly progressing Vici syndrome.Ann Hum Genet. 2020 Jan;84(1):80-86. doi: 10.1111/ahg.12337. Epub 2019 Jun 11.
7	Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria. Mol Cell. 2017 Aug 3;67(3):471-483.e7.