Disease #05302

Official abbreviation MPS-1
Name mucopolysaccharidosis, type I (MPS-1)
OMIM ID -
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00106839 - PubMed: Scott 1992 - - - Spain Spanish - 0 - - MPS-1 Mucopolysaccharidosis type I; MPS I IDUA IDUA 2 1 Gerard C.P. Schaafsma
00106841 - PubMed: Scott 1992 - - - Spain Spanish - 0 - - MPS-1 Mucopolysaccharidosis type I; MPS I IDUA IDUA 2 1 Gerard C.P. Schaafsma
00106867 - PubMed: Bertola 2011 - - - Turkey Turkish - 0 - - MPS-1 Mucopolysaccharidosis type I; MPS I IDUA IDUA 1 1 Gerard C.P. Schaafsma
00106869 - - Carrier of a known pathogenic mutation on the second allele F no - - - 0 - - MPS-1 clinical and biochemical confirmed MPS type I IDUA IDUA 1 1 Alexander Volk
00183080 PatA Labrijn-Marks et al, submitted - - - Netherlands - - 0 - - MPS-1 11m diagnosed; 12y cognitive level of 8y after stem cell transplant IDUA IDUA 2 1 Marianne Hoogeveen-Westerveld
Legend