Alper Syndrome

Preferred Label : Alper Syndrome;

NCIt synonyms : Alper's Syndrome; Alper s Syndrome; AHD; AHS;

NCIt related terms : Alpers Disease; Alpers Syndrome; Alpers Huttenlocher Disease; Alpers Huttenlocher Syndrome;

NCIt definition : A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the gene for the mitochondrial DNA polymerase POLG. Clinical signs are usually not present at birth but develop within the first two years of life and include hypoglycemia from underlying liver dysfunction, failure to thrive, spasticity, myoclonus and seizures. The clinical course follows a progression of neurologic disability and hepatic failure. The prognosis is poor with survival outside the first decade unlikely.;

Alternative definition : NICHD: A neurodegenerative disorder with autosomal recessive inheritance that presents in childhood and is characterized by spasticity, seizures, dementia, and liver disease.;

Codes from synonyms : G31.81;

Details

Origin ID

C35257;

UMLS CUI

C0205710;

Automatic exact mappings (from CISMeF team)
- Alagille syndrome 1 [OMIM Phenotype]
- Alien Limb Phenomenon [MeSH Descriptor]
- Alpha-2-hs-glycoprotein [OMIM gene]
- jagged canonical Notch ligand 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Alpers disease [PASCAL descriptor]
- Alpers disease [MedDRA Preferred Term]
- Alpers syndrome [DO Concept]
- Alpers' disease [MedDRA LLT]
- Alpers-Huttenlocher syndrome [ORDO Disease]
- Alpers-Huttenlocher syndrome [ICD-11 More detail]
- Alpers-Huttenlocher syndrome [DO Concept]
- Mitochondrial dna depletion syndrome 4a (alpers type) [OMIM Phenotype]
- 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.)]
DO Cross reference
- Alpers-Huttenlocher syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpers disease [MedDRA Preferred Term]
- Alpers syndrome [DO Concept]
- Alpers' disease [MedDRA LLT]
- Alpers-Huttenlocher syndrome [ORDO Disease]
- Alpers-Huttenlocher syndrome [DO Concept]
- Mitochondrial dna depletion syndrome 4a (alpers type) [OMIM Phenotype]
- 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]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Adverse Events Terminology [NCIt concept]
- Pediatric Adverse Events Terminology Mapped to MedDRA [NCIt concept]
- mCode Elixhauser Dementia Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_mapped_to_gene
- POLG Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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