Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
combined saposin deficiency (DOID:0111330)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
combined saposin deficiency  
A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1. (DO)
Diffuse Cerebral Sclerosis, Scholz Type 
Metachromatic Leukodystrophy due to Saposin B Deficiency  
Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A 
Pseudoarylsulfatase A Deficiency  

Synonyms
Exact Synonyms: COMBINED SAP DEFICIENCY ;   PSAPD ;   Prosaposin Deficiency ;   encephalopathy due to prosaposin deficiency
Primary IDs: MESH:C567125
Alternate IDs: DOID:9004179 ;   OMIM:611721 ;   RDO:0015284
Xrefs: ORDO:139406
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11309366, https://www.ncbi.nlm.nih.gov/pubmed/1371116

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.