{ "disease_id": "DOID:0080554", "recommended_name": { "id": "DOID:0080554", "resource": "Disease Ontology", "url": "http://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": "http://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 Ib", "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": "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": "Mannosephosphate isomerase deficiency", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "Mpi deficiency", "description": "" }, { "id": "MONDO:0011257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257", "name": "Protein-losing enteropathy-hepatic fibrosis syndrome", "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": "Saguenay-Lac Saint-Jean syndrome", "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": "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": "http://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": "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", "resource": "UniProtKB", "type": "recommended" }, { "name": "5.3.1.8", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG8417-PA; Mpi-PA", "resource": "RefSeq", "type": "synonym" }, { "name": "Phosphohexomutase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Phosphomannose isomerase", "resource": "UniProtKB", "type": "synonym" }, { "name": "mannose phosphate isomerase", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Mpi", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG8417; Dmel\\CG8417; dMPI; MPI", "resource": "RefSeq", "type": "synonym" }, { "name": "CG8417", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG8417", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG8417", "resource": "UniProtKB", "type": "synonym" }, { "name": "MPI", "resource": "UniProtKB", "type": "synonym" }, { "name": "Mpi", "resource": "RefSeq", "type": "synonym" }, { "name": "dMPI", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0080554", "database": "Alliance of Genome Resources", "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", "resource": "UniProtKB", "type": "recommended" }, { "name": "5.3.1.8", "resource": "UniProtKB", "type": "synonym" }, { "name": "PMI", "resource": "UniProtKB", "type": "synonym" }, { "name": "Phosphohexomutase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Phosphomannose isomerase", "resource": "UniProtKB", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase", "resource": "RefSeq", "type": "synonym" }, { "name": "phosphomannose isomerase; PMI; phosphohexomutase; mannose phosphate isomerase 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Mpi", "resource": "UniProtKB", "type": "recommended" }, { "name": "1110002E17Rik; Mpi-1; Mpi1", "resource": "RefSeq", "type": "synonym" }, { "name": "Mpi1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Mpi", "resource": "RefSeq", "type": "synonym" }, { "name": "Pmi", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0080554", "database": "Alliance of Genome Resources", "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", "resource": "UniProtKB", "type": "recommended" }, { "name": "5.3.1.8", "resource": "UniProtKB", "type": "synonym" }, { "name": "PMI", "resource": "UniProtKB", "type": "synonym" }, { "name": "Phosphohexomutase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Phosphomannose isomerase", "resource": "UniProtKB", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase PMI40", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "PMI40", "resource": "UniProtKB", "type": "recommended" }, { "name": "PMI40", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0080554", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080554" } ] }, { "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", "resource": "UniProtKB", "type": "recommended" }, { "name": "5.3.1.8", "resource": "UniProtKB", "type": "synonym" }, { "name": "PMI", "resource": "UniProtKB", "type": "synonym" }, { "name": "Phosphohexomutase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Phosphomannose isomerase", "resource": "UniProtKB", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase isoform 3", "resource": "RefSeq", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase; phosphomannose isomerase 1; phosphohexomutase", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "MPI", "resource": "UniProtKB", "type": "recommended" }, { "name": "CDG1B; PMI; PMI1", "resource": "RefSeq", "type": "synonym" }, { "name": "MPI", "resource": "RefSeq", "type": "synonym" }, { "name": "PMI1", "resource": "UniProtKB", "type": "synonym" }, { "name": "hCG_2006995", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "MPI", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MPI/#!details" }, { "id": "0080554", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080554" }, { "id": "0011257", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011257" }, { "id": "602579", "database": "MIM", "url": "https://www.omim.org/entry/602579" }, { "id": "4351", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/4351#disease" } ] }, { "uniprot_canonical_ac": "Q3ZB95-1", "uniprot_ac": "Q3ZB95", "uniprot_id": "Q3ZB95_DANRE", "refseq_ac": "NP_001028282", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Mannose-6-phosphate isomerase", "resource": "UniProtKB", "type": "recommended" }, { "name": "5.3.1.8", "resource": "UniProtKB", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "mpi", "resource": "UniProtKB", "type": "recommended" }, { "name": "im:7140016; zgc:110773", "resource": "RefSeq", "type": "synonym" }, { "name": "im:7140016", "resource": "UniProtKB", "type": "synonym" }, { "name": "mpi", "resource": "RefSeq", "type": "synonym" }, { "name": "zgc:110773", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0080554", "database": "Alliance of Genome Resources", "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", "resource": "UniProtKB", "type": "recommended" }, { "name": "5.3.1.8", "resource": "UniProtKB", "type": "synonym" }, { "name": "PMI; phosphohexomutase; phosphomannose isomerase", "resource": "RefSeq", "type": "synonym" }, { "name": "PMI", "resource": "UniProtKB", "type": "synonym" }, { "name": "Phosphohexomutase", "resource": "UniProtKB", "type": "synonym" }, { "name": "Phosphomannose isomerase", "resource": "UniProtKB", "type": "synonym" }, { "name": "mannose-6-phosphate isomerase", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Mpi", "resource": "UniProtKB", "type": "recommended" }, { "name": "Mpi", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0080554", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080554" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0080554" }