Mitochondrial dna depletion syndrome 4a (alpers type)

Preferred Label : Mitochondrial dna depletion syndrome 4a (alpers type);

Symbol : MTDPS4A;

CISMeF acronym : MTDPS4A; PNDC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neuronal degeneration of childhood with liver disease, progressive; PNDC; Alpers progressive infantile poliodystrophy; Alpers syndrome; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis; Alpers-huttenlocher syndrome;

Description : Mitochondrial DNA depletion syndrome-4A, also known as Alpers syndrome, is an autosomal recessive disorder characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children. Pathologic findings include neuronal loss in the cerebral gray matter with reactive astrocytosis and liver cirrhosis. The disorder is progressive and often leads to death from hepatic failure or status epilepticus before age 3 years (review by Milone and Massie, 2010). Some affected individuals may show mild intermittent 3-methylglutaconic aciduria and defects in mitochondrial oxidative phosphorylation (Wortmann et al., 2009). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). Neuropathologic changes characteristic of Alpers syndrome, namely laminar cortical necrosis, may also be seen in some patients with combined oxidative phosphorylation deficiency-14 (COXPD14; 614946) due to mutation in the FARS2 gene (611592).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nuclear-encoded mitochondrial DNA polymerase-gamma gene (POLG, 174763.0008);

Laboratory abnormalities : Elevated liver function tests; Decreased DNA polymerase-gamma (POLG, 174763) activity; Increased CSF protein; Increased serum lactate; Intermittent 3-methylglutaconic aciduria; Intermittent ethylmalonic aciduria; Intermittent dicarbonic aciduria;

Prefixed ID : #203700;

Details

Origin ID

203700;

UMLS CUI

C0205710;

Currated CISMeF NLP mapping
- Alper Syndrome [NCIt concept]
- Alpers disease [PASCAL descriptor]
- Alpers syndrome [DO Concept]
- Alpers-Huttenlocher syndrome [ICD-11 More detail]
- Alpers-Huttenlocher syndrome [DO Concept]
- Alpers-Huttenlocher syndrome [ORDO Disease]
- Diffuse Cerebral Sclerosis of Schilder [NCIt concept]
- Progressive sclerosing poliodystrophy (disorder) [SNOMED CT concept]
- alpers syndrome [MeSH concept]
- alpers' disease [MedDRA Preferred Term]
- progressive sclerosing poliodystrophy [Disease (Nov.)]
- progressive sclerosing poliodystrophy [SNOMED Notion]
DO Cross reference
- Alpers-Huttenlocher syndrome [DO Concept]
Genes related to phenotype
- Polymerase, dna, gamma [OMIM gene]
HPO term(s)
- 3-Methylglutaconic aciduria [HPO term]
- Abnormality of mitochondrial metabolism [HPO term]
- Abnormality of visual evoked potentials [HPO term]
- Aciduria [HPO term]
- Astrocytosis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bile duct proliferation [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical neurodegeneration [HPO term]
- Cerebral visual impairment [HPO term]
- Cortical blindness [HPO term]
- Dementia [HPO term]
- Developmental regression [HPO term]
- Elevated hepatic transaminase [HPO term]
- Epilepsia partialis continua [HPO term]
- Ethylmalonic aciduria [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- Hepatic failure [HPO term]
- Hepatomegaly [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Increased CSF protein [HPO term]
- Increased liver function tests [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Micronodular cirrhosis [HPO term]
- Microvesicular hepatic steatosis [HPO term]
- Myoclonus [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Paralysis [HPO term]
- Psychomotor regression [HPO term]
- Rapidly progressive [HPO term]
- Status epilepticus [HPO term]
- Visual loss [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Alpers-Huttenlocher syndrome [ORDO Disease]
See also inter- (CISMeF)
- POLG wt Allele [NCIt concept]
- diffuse cerebral sclerosis of schilder [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alper Syndrome [NCIt concept]
- Alpers disease [MedDRA Preferred Term]
- Alpers syndrome [DO Concept]
- Alpers' disease [MedDRA LLT]
- Alpers-Huttenlocher syndrome [ORDO Disease]
- Alpers-Huttenlocher syndrome [DO Concept]
- Progressive sclerosing poliodystrophy (disorder) [SNOMED CT concept]
- alpers syndrome [MeSH concept]
- alpers' disease [MedDRA Preferred Term]
- progressive sclerosing poliodystrophy [SNOMED Notion]
- progressive sclerosing poliodystrophy [Disease (Nov.)]

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