FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Sengers syndrome ID (Ontology) DOID:0080132 (Human Disease)
Definition A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34.
Also Known As "mitochondrial DNA depletion syndrome 10" ; "mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)"
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
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 Alleles Genes
 Sengers syndrome       2      2
 for disease ribbon | Sengers syndrome       --       1
 model of | Sengers syndrome       2      1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___________
mitochondrial metabolism disease          |
 |__mitochondrial DNA depletion syndrome__|
                                          Sengers syndrome  4 rec.
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Is a autosomal recessive disease
mitochondrial DNA depletion syndrome
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Synonyms
  • "mitochondrial DNA depletion syndrome 10" EXACT
    "mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)" EXACT
Secondary IDs
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GARD:1142
MESH:C538280
MIM:212350
ORDO:1369