Polyglucosan body neuropathy, adult form

Preferred Label : Polyglucosan body neuropathy, adult form;

Symbol : APBN;

CISMeF acronym : APBD; APBN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : APBD; Polyglucosan body disease, adult form;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glycogen branching enzyme gene (GBE1, 607839.0002);

Laboratory abnormalities : Decreased or absent glycogen branching enzyme activity;

Prefixed ID : #263570;

Détails

Origin ID

263570;

UMLS CUI

C1849722;

Automatic exact mappings (from CISMeF team)
- Adult polyglucosan body disease [MedDRA Preferred Term]
- Glycogen storage disease due to glycogen branching enzyme deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Adult polyglucosan body disease [ORDO Disease]
- Adult polyglucosan body disease (disorder) [SNOMED CT concept]
- adult polyglucosan body disease [Disease (Nov.)]
- polyglucosan body disease, adult form [MeSH concept]
- polyglucosan body disease, adult form [MeSH Supplementary Concept]
Genes related to phenotype
- Glycogen branching enzyme [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormal upper motor neuron morphology [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Adult onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Distal sensory impairment [HPO term]
- Gait disturbance [HPO term]
- Micturition difficulties [HPO term]
- Neurogenic bladder [HPO term]
- Orthostatic hypotension [HPO term]
- Paresthesia [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Slowly progressive [HPO term]
- Spastic paraplegia [HPO term]
- Tetraparesis [HPO term]
ORDO concept(s)
- Adult polyglucosan body disease [ORDO Disease]
- Glycogen storage disease due to glycogen branching enzyme deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult polyglucosan body disease [ORDO Disease]
- Adult polyglucosan body disease [MedDRA Preferred Term]
- Adult polyglucosan body disease (disorder) [SNOMED CT concept]
- adult polyglucosan body disease [Disease (Nov.)]
- polyglucosan body disease, adult form [MeSH Supplementary Concept]
- polyglucosan body disease, adult form [MeSH concept]

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