[DEL] SENGERS SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE)
MTDPS10
CARDIOMYOPATHY AND CATARACT
Number of Symptoms 0
OrphanetNr:
OMIM Id: 212350
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Comment:

identical to Orphanet:1369 (Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy; Sengers syndrome), disease 540;

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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., ...
Clinical Description OMIM In 7 of 22 children in 3 unrelated sibships, Sengers et al. (1975) described congenital cataract and mitochondrial myopathy of skeletal and heart muscle. Cardiomyopathy of hypertrophic type dominated the clinical picture. Histologically, abnormality of mitochondria and storage ...
Molecular genetics OMIM In 2 unrelated patients with myopathic mtDNA depletion syndrome, Calvo et al. (2012) identified homozygous or compound heterozygous mutations in the AGK gene (610345.0001-610345.0003).

In 10 patients from 9 families with Sengers syndrome, Mayr et al. ...