Cardiology · Cardiology / Metabolic cardiomyopathy
Sengers syndrome
also: Cardiomyopathic mitochondrial DNA depletion syndrome
Congenital cataracts, hypertrophic cardiomyopathy and lactic acidosis.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Metabolic cardiomyopathy
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, neonatal
- Gene(s) involved
- AGK
- Alternative names & eponyms
- Cardiomyopathic mitochondrial DNA depletion syndrome
Etiology & mechanism
AGK deficiency impairs mitochondrial lipid and protein import.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Sengers syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Leigh syndrome
hypotonia, lactic acidosis
2 shared
Lowe syndrome
congenital cataracts, hypotonia
2 shared
Marinesco–Sjögren syndrome
congenital cataracts, hypotonia
1 shared
Allan–Herndon–Dudley syndrome
hypotonia
1 shared
Benign hereditary chorea
hypotonia
1 shared
Brain–lung–thyroid syndrome
hypotonia
1 shared
Cardiofaciocutaneous syndrome
hypertrophic cardiomyopathy
1 shared
Cerebral folate deficiency syndrome
hypotonia
1 shared
Coffin–Siris syndrome
hypotonia
1 shared
Cohen syndrome
hypotonia
Shares genes with
None.
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