Sengers syndrome

Preferred Label : Sengers syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomyopathy and cataract; MTDPS10; Mitochondrial dna depletion syndrome 10 (cardiomyopathic type);

Description : Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy (summary by Mayr et al., 2012). Skeletal muscle biopsies of 2 affected individuals showed severe mtDNA depletion (Calvo et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the acylglycerol kinase gene (AGK, 610345.0001);

Laboratory abnormalities : Increased serum lactate, particularly after exercise; Intermittent 3-methylglutaconic aciduria;

Prefixed ID : #212350;

Détails

Origin ID

212350;

UMLS CUI

C1859317;

Currated CISMeF NLP mapping
- Cataract - cardiomyopathy [ICD-11 More detail]
- Cataract and cardiomyopathy [MeSH concept]
- Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) [SNOMED CT concept]
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome [ORDO Disease]
- Sengers syndrome [DO Concept]
- cataract and cardiomyopathy [MeSH Supplementary Concept]
DO Cross reference
- Sengers syndrome [DO Concept]
Genes related to phenotype
- Acylglycerol kinase [OMIM gene]
HPO term(s)
- 3-Methylglutaconic aciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Developmental cataract [HPO term]
- Easy fatigability [HPO term]
- Exercise intolerance [HPO term]
- Exercise-induced lactic acidemia [HPO term]
- Fatigue [HPO term]
- Generalized hypotonia [HPO term]
- Glaucoma [HPO term]
- Growth delay [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Mitochondrial myopathy [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Respiratory insufficiency [HPO term]
- Strabismus [HPO term]
- Thrombocytopenia [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract - cardiomyopathy [ICD-11 More detail]
- Cataract and cardiomyopathy [MeSH concept]
- Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) [SNOMED CT concept]
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome [ORDO Disease]
- Sengers syndrome [DO Concept]
- cataract and cardiomyopathy [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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