mitochondrial DNA depletion syndrome 4a
A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
MONDO:0100033
metabolic epilepsy
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0024237
inherited neurodegenerative disorder
is_a
MONDO:0100512
mitochondrial DNA depletion syndrome, hepatocerebral form
is_a
AHD
exact
AHS
exact
Alper syndrome
exact
Alper's disease
exact
Alper's syndrome
exact
Alpers Disease
exact
Alpers Huttenlocher disease
exact
Alpers Huttenlocher syndrome
exact
Alpers diffuse Degeneration of cerebral Grey matter with hepatic cirrhosis
related
Alpers disease
exact
Alpers progressive infantile poliodystrophy
exact
Alpers progressive sclerosing poliodystrophy
exact
Alpers syndrome
exact
Alpers-Huttenlocher
exact
Alpers-Huttenlocher syndrome
exact
MTDPS4A
related
PNDC
related
Poliodystrophia cerebri progressiva
related
diffuse cerebral degeneration in infancy
related
infantile poliodystrophy
related
mitochondrial DNA depletion syndrome 4A
exact
mitochondrial DNA depletion syndrome 4A (Alpers type)
related
mitochondrial DNA depletion syndrome type 4a
exact
progressive cerebral poliodystrophy
related
progressive neuronal degeneration of childhood with liver disease
exact
SPCC24B10.22