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mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description A form of mucopolysaccharidosis, a group of diseases characterized by excessive accumulation and secretion of oligomucopoloysaccharides. MPSPS is a multisystemic disorder characterized by coarse facial features, dysostosis multiplex, hepatosplenomegaly, respiratory difficulties, mental retardation, developmental delay, pyramidal signs, severe chronic anemia, renal involvement and cardiac defects. Laboratory analyses show proteinuria with glomerular foamy cells, excess secretion of urinary glycosaminoglycans, and extremely high levels of plasma heparan sulphate. Disease onset is in infancy. Most patients die in the first years of life due to cardiorespiratory failure. MPSPS inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0015012:  mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Orphanet:505248: 
UMLS:C4310627: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

6785

Tdark

1441

Tchem

1308

Tclin

455

Tbio

4331

Tchem

803

Tdark

604

Tclin

358

Tbio

1763

Tchem

284

Tdark

193

Tclin

124

Tbio

640

Tchem

110

Tclin

48

Tdark

39

Tbio

321

Tchem

47

Tclin

19

Tdark

10

Tbio

43

Tchem

5

Tclin

1

Children
Target Novelty (Tin-x)
No novelty measurements found