PMM2-congenital disorder of glycosylation
http://purl.obolibrary.org/obo/MONDO_0008907
The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults. [ Orphanet:79318 ]
Term info
- SCTID:459063003 (MONDO:equivalentTo)
- OMIM:212065 (Orphanet:79318/e)
- DOID:0080552 (MONDO:equivalentTo)
- Orphanet:79318 (OMIM:212065)
- NCIT:C126868 (MONDO:equivalentTo)
- UMLS:C0349653 (Orphanet:79318)
- GARD:0009826 (MONDO:equivalentTo)
- MESH:C535739 (MONDO:equivalentTo)
ordo_disease
https://github.com/monarch-initiative/mondo/issues/5682
The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
http://purl.obolibrary.org/obo/DOID_0080552, http://purl.obolibrary.org/obo/NCIT_C126868, http://identifiers.org/snomedct/459063003, http://purl.obolibrary.org/obo/Orphanet_79318, http://linkedlifedata.com/resource/umls/id/C0349653, https://omim.org/entry/212065, http://identifiers.org/mesh/C535739
http://purl.obolibrary.org/obo/MONDO_0005093
PMM2-congenital disorder of glycosylation, PMM2-CDG, CDG syndrome type Ia, congenital disorder of glycosylation type 1a, CDG1A, phosphomannomutase 2 deficiency, CDG 1A, carbohydrate deficient glycoprotein syndrome type Ia, congenital disorder of glycosylation type Ia, CDG-IA
carbohydrate-deficient glycoprotein syndrome type 1A, carbohydrate-deficient glycoprotein syndrome, type Ia, carbohydrate-deficient glycoprotein syndrome type 1A (formerly), carbohydrate-deficient glycoprotein syndrome, type Ia, formerly, Jaeken syndrome, PMM2-CDG (CDG-Ia), congenital disorder of glycosylation, type Ia
MONDO:0008907