{ "disease_id": "DOID:0080554", "recommended_name": { "id": "DOID:0080554", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080554", "name": "congenital disorder of glycosylation Ib", "description": "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24." }, "synonyms": [ { "id": "DOID:0080554", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080554", "name": "congenital disorder of glycosylation 1b", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "MPI-congenital disorder of glycosylation", "description": "MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1)." }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "CDG syndrome type IB", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "CDG-Ib", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "CDG1B", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "MPI-CDG", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "carbohydrate deficient glycoprotein syndrome type IB", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "congenital disorder of glycosylation type 1b", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "congenital disorder of glycosylation type IB", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "phosphomannose isomerase deficiency", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "CDG 1B", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "CDG gastrointestinal type", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "MPI-CDG (CDG-Ib)", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "SLSJ syndrome", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "Saguenay Lac Saint Jean syndrome", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "carbohydrate-deficient glycoprotein syndrome type 1B", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "congenital disorder of glycosylation, type IB", "description": "" }, { "id": "MIM:602579", "resource": "MIM", "url": "https://www.omim.org/entry/602579", "name": "Congenital disorder of glycosylation 1B", "description": "Congenital disorder of glycosylation 1B" } ], "children": [], "id_list": [ "DOID:0080554" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0080554", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080554", "categories": [] }, { "id": "MONDO:0011257", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "categories": [] }, { "id": "MIM:602579", "database": "MIM", "url": "https://www.omim.org/entry/602579", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "P34949-1", "uniprot_ac": "P34949", "uniprot_id": "MPI_HUMAN", "refseq_ac": "NP_001276085", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Mannose-6-phosphate isomerase", "type": "recommended" }, { "name": "5.3.1.8", "type": "synonym" }, { "name": "PMI", "type": "synonym" }, { "name": "Phosphohexomutase", "type": "synonym" }, { "name": "Phosphomannose isomerase", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase isoform 3", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase", "type": "synonym" }, { "name": "phosphohexomutase", "type": "synonym" }, { "name": "phosphomannose isomerase 1", "type": "synonym" } ], "gene_names": [ { "name": "MPI", "type": "recommended" }, { "name": "CDG1B", "type": "synonym" }, { "name": "MPI", "type": "synonym" }, { "name": "PMI1", "type": "synonym" }, { "name": "PMI", "type": "synonym" } ], "record_id": "P34949-1", "evidence": [ { "id": "4351", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4351#disease" }, { "id": "0011257", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257" }, { "id": "602579", "database": "MIM", "url": "https://www.omim.org/entry/602579" }, { "id": "MPI", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MPI/#!details" }, { "id": "0080554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080554" } ] }, { "uniprot_canonical_ac": "Q924M7-1", "uniprot_ac": "Q924M7", "uniprot_id": "MPI_MOUSE", "refseq_ac": "NP_080113", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Mannose-6-phosphate isomerase", "type": "recommended" }, { "name": "5.3.1.8", "type": "synonym" }, { "name": "PMI", "type": "synonym" }, { "name": "Phosphohexomutase", "type": "synonym" }, { "name": "Phosphomannose isomerase", "type": "synonym" }, { "name": "mannose phosphate isomerase 1", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase", "type": "synonym" }, { "name": "phosphohexomutase", "type": "synonym" }, { "name": "phosphomannose isomerase", "type": "synonym" } ], "gene_names": [ { "name": "Mpi", "type": "recommended" }, { "name": "1110002E17Rik", "type": "synonym" }, { "name": "Mpi-1", "type": "synonym" }, { "name": "Mpi1", "type": "synonym" }, { "name": "Mpi", "type": "synonym" }, { "name": "Pmi", "type": "synonym" } ], "record_id": "Q924M7-1", "evidence": [ { "id": "0080554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080554" } ] }, { "uniprot_canonical_ac": "P29952-1", "uniprot_ac": "P29952", "uniprot_id": "MPI_YEAST", "refseq_ac": "NP_010918", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Mannose-6-phosphate isomerase", "type": "recommended" }, { "name": "5.3.1.8", "type": "synonym" }, { "name": "PMI", "type": "synonym" }, { "name": "Phosphohexomutase", "type": "synonym" }, { "name": "Phosphomannose isomerase", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase PMI40", "type": "synonym" } ], "gene_names": [ { "name": "PMI40", "type": "recommended" }, { "name": "PMI40", "type": "synonym" } ], "record_id": "P29952-1", "evidence": [ { "id": "0080554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080554" } ] }, { "uniprot_canonical_ac": "Q68FX1-1", "uniprot_ac": "Q68FX1", "uniprot_id": "MPI_RAT", "refseq_ac": "NP_001004081", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Mannose-6-phosphate isomerase", "type": "recommended" }, { "name": "5.3.1.8", "type": "synonym" }, { "name": "PMI", "type": "synonym" }, { "name": "Phosphohexomutase", "type": "synonym" }, { "name": "Phosphomannose isomerase", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase", "type": "synonym" }, { "name": "phosphohexomutase", "type": "synonym" }, { "name": "phosphomannose isomerase", "type": "synonym" } ], "gene_names": [ { "name": "Mpi", "type": "recommended" }, { "name": "Mpi", "type": "synonym" } ], "record_id": "Q68FX1-1", "evidence": [ { "id": "0080554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080554" } ] }, { "uniprot_canonical_ac": "Q9VH77-1", "uniprot_ac": "Q9VH77", "uniprot_id": "Q9VH77_DROME", "refseq_ac": "NP_649940", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "mannose-6-phosphate isomerase", "type": "recommended" }, { "name": "5.3.1.8", "type": "synonym" }, { "name": "CG8417-PA", "type": "synonym" }, { "name": "Mpi-PA", "type": "synonym" }, { "name": "Phosphohexomutase", "type": "synonym" }, { "name": "Phosphomannose isomerase", "type": "synonym" }, { "name": "mannose phosphate isomerase", "type": "synonym" } ], "gene_names": [ { "name": "Mpi", "type": "recommended" }, { "name": "CG8417", "type": "synonym" }, { "name": "Dmel\\CG8417", "type": "synonym" }, { "name": "Dmel_CG8417", "type": "synonym" }, { "name": "MPI", "type": "synonym" }, { "name": "Mpi", "type": "synonym" }, { "name": "dMPI", "type": "synonym" } ], "record_id": "Q9VH77-1", "evidence": [ { "id": "0080554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080554" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0080554" }