Preferred Label : Spastic paraplegia 9a, autosomal dominant;
Symbol : SPG9A;
CISMeF acronym : SPG9A;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux; Cataracts with motor neuronopathy, short stature, and skeletal abnormalities;
Description : For a general phenotypic description and a discussion of genetic heterogeneity of
autosomal dominant spastic paraplegia, see SPG3A (182600).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the aldehyde dehydrogenase 18 family, member A1 gene (ALDH18A1,
138250.0006);
Laboratory abnormalities : Low plasma levels of citrulline, ornithine, proline, and arginine;
Prefixed ID : #601162;
Origin ID : 601162;
UMLS CUI : C5568978;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)