Combined saposin deficiency

Preferred Label : Combined saposin deficiency;

Symbol : PSAPD;

CISMeF acronym : PSAPD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Combined sap deficiency; Prosaposin deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the prosaposin gene (PSAP, 176801.0005);

Laboratory abnormalities : Multiple tissue biopsies show lysosomal storage disease; Deficiency of saposins A, B, C, and D; Decreased activity of glycosylceramidase, galactosylceramidase, ceramidase, and other lysosomal enzymes; Increased urinary glycosphingolipids, particularly globotriaosylceramide;

Prefixed ID : #611721;

Details

Origin ID

611721;

UMLS CUI

C2673635;

Automatic exact mappings (from CISMeF team)
- PSAP wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Encephalopathy due to prosaposin deficiency [ICD-11 More detail]
- Encephalopathy due to prosaposin deficiency [ORDO Disease]
- Encephalopathy due to prosaposin deficiency (disorder) [SNOMED CT concept]
- combined saposin deficiency [DO Concept]
- combined saposin deficiency [MeSH concept]
- combined saposin deficiency [MeSH Supplementary Concept]
DO Cross reference
- combined saposin deficiency [DO Concept]
Genes related to phenotype
- Prosaposin [OMIM gene]
HPO term(s)
- Abnormal glycosphingolipid metabolism [HPO term]
- Abnormal periventricular white matter morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- CNS demyelination [HPO term]
- Congenital onset [HPO term]
- Death in infancy [HPO term]
- Demyelination [HPO term]
- Fasciculations [HPO term]
- Feeding difficulties [HPO term]
- Generalized clonic seizure [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- Hyperkinetic movements [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Myoclonus [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Optic atrophy [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Encephalopathy due to prosaposin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Encephalopathy due to prosaposin deficiency [ORDO Disease]
- combined saposin deficiency [MeSH Supplementary Concept]
- combined saposin deficiency [MeSH concept]

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