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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/602579
http://purl.bioontology.org/ontology/OMIM/602579
|
|---|---|
| Preferred Name | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib |
| Synonyms |
SAGUENAY-LAC SAINT-JEAN SYNDROME
CDGIb
CDG, GASTROINTESTINAL TYPE
MANNOSEPHOSPHATE ISOMERASE DEFICIENCY
CDG1B
SLSJ SYNDROME
MPI DEFICIENCY
CDG Ib
PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SAGUENAY-LAC SAINT-JEAN SYNDROME
CDGIb
CDG, GASTROINTESTINAL TYPE
MANNOSEPHOSPHATE ISOMERASE DEFICIENCY
CDG1B
SLSJ SYNDROME
MPI DEFICIENCY
CDG Ib
PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME
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|
|---|---|
| prefLabel | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib
|
| Gene Symbol |
PMI1
CDG1B
MPI
|
| Scope Statement | Caused by mutations in the mannosephosphate isomerase gene (MPI, 154550.0001) [MOLECULAR BASIS]
Responsive to oral mannose therapy [MISCELLANEOUS]
Onset of symptoms 2-12 months [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q22-qter
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 602579
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1865145
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |