{ "disease_id": "DOID:0080565", "recommended_name": { "id": "DOID:0080565", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080565", "name": "congenital disorder of glycosylation Im", "description": "A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34." }, "synonyms": [ { "id": "DOID:0080565", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080565", "name": "DOLK-congenital disorder of glycosylation", "description": "" }, { "id": "DOID:0080565", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080565", "name": "congenital disorder of glycosylation 1m", "description": "" }, { "id": "DOID:0080565", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080565", "name": "dolichol kinase deficiency", "description": "" }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "DK1-congenital disorder of glycosylation", "description": "DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity." }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "CDG syndrome type Im", "description": "" }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "CDG-Im", "description": "" }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "CDG1M", "description": "" }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "DK1-CDG", "description": "" }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "DK1-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "carbohydrate deficient glycoprotein syndrome type Im", "description": "" }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "congenital disorder of glycosylation type 1m", "description": "" }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "congenital disorder of glycosylation type Im", "description": "" }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "dolichol kinase deficiency", "description": "" }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "hypotonia and ichthyosis due to dolichol phosphate deficiency", "description": "" }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "CDGIm", "description": "" }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "DOLK-CDG (CDG-Im)", "description": "" }, { "id": "MONDO:0012556", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "name": "congenital disorder of glycosylation, type Im", "description": "" }, { "id": "MIM:610768", "resource": "MIM", "url": "https://www.omim.org/entry/610768", "name": "Congenital disorder of glycosylation 1M", "description": "Congenital disorder of glycosylation 1M" } ], "children": [], "id_list": [ "DOID:0080565" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0080565", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080565", "categories": [] }, { "id": "MONDO:0012556", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556", "categories": [] }, { "id": "MIM:610768", "database": "MIM", "url": "https://www.omim.org/entry/610768", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q9UPQ8-1", "uniprot_ac": "Q9UPQ8", "uniprot_id": "DOLK_HUMAN", "refseq_ac": "NP_055723", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dolichol kinase", "type": "recommended" }, { "name": "2.7.1.108", "type": "synonym" }, { "name": "SEC59 homolog", "type": "synonym" }, { "name": "Transmembrane protein 15", "type": "synonym" }, { "name": "dolichol kinase 1", "type": "synonym" }, { "name": "dolichol kinase", "type": "synonym" }, { "name": "transmembrane protein 15", "type": "synonym" } ], "gene_names": [ { "name": "DOLK", "type": "recommended" }, { "name": "CDG1M", "type": "synonym" }, { "name": "DK1", "type": "synonym" }, { "name": "DK", "type": "synonym" }, { "name": "DOLK", "type": "synonym" }, { "name": "KIAA1094", "type": "synonym" }, { "name": "PRO4980", "type": "synonym" }, { "name": "SEC59", "type": "synonym" }, { "name": "TMEM15", "type": "synonym" } ], "record_id": "Q9UPQ8-1", "evidence": [ { "id": "22845", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/22845#disease" }, { "id": "0012556", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012556" }, { "id": "610768", "database": "MIM", "url": "https://www.omim.org/entry/610768" }, { "id": "DOLK", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/DOLK/#!details" }, { "id": "0080565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080565" } ] }, { "uniprot_canonical_ac": "Q8R2Y3-1", "uniprot_ac": "Q8R2Y3", "uniprot_id": "DOLK_MOUSE", "refseq_ac": "NP_808316", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dolichol kinase", "type": "recommended" }, { "name": "2.7.1.108", "type": "synonym" }, { "name": "Transmembrane protein 15", "type": "synonym" }, { "name": "dolichol kinase", "type": "synonym" }, { "name": "transmembrane protein 15", "type": "synonym" } ], "gene_names": [ { "name": "Dolk", "type": "recommended" }, { "name": "Dolk", "type": "synonym" }, { "name": "Tmem15", "type": "synonym" }, { "name": "mKIAA1094", "type": "synonym" } ], "record_id": "Q8R2Y3-1", "evidence": [ { "id": "0080565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080565" } ] }, { "uniprot_canonical_ac": "P20048-1", "uniprot_ac": "P20048", "uniprot_id": "DOLK_YEAST", "refseq_ac": "NP_013726", "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": "Dolichol kinase", "type": "recommended" }, { "name": "2.7.1.108", "type": "synonym" }, { "name": "dolichol kinase", "type": "synonym" } ], "gene_names": [ { "name": "SEC59", "type": "recommended" }, { "name": "SEC59", "type": "synonym" }, { "name": "YM8270.17C", "type": "synonym" } ], "record_id": "P20048-1", "evidence": [ { "id": "0080565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080565" } ] }, { "uniprot_canonical_ac": "D3ZLM6-1", "uniprot_ac": "D3ZLM6", "uniprot_id": "D3ZLM6_RAT", "refseq_ac": "NP_001101296", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "dolichol kinase", "type": "recommended" }, { "name": "2.7.1.108", "type": "synonym" }, { "name": "dolichol kinase", "type": "synonym" }, { "name": "transmembrane protein 15", "type": "synonym" } ], "gene_names": [ { "name": "Dolk", "type": "recommended" }, { "name": "Dolk", "type": "synonym" }, { "name": "Tmem15", "type": "synonym" } ], "record_id": "D3ZLM6-1", "evidence": [ { "id": "0080565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080565" } ] }, { "uniprot_canonical_ac": "A1ZAI1-1", "uniprot_ac": "A1ZAI1", "uniprot_id": "A1ZAI1_DROME", "refseq_ac": "NP_611139", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "dolichol kinase", "type": "recommended" }, { "name": "2.7.1.108", "type": "synonym" }, { "name": "CG8311-PA", "type": "synonym" }, { "name": "Dolk-PA", "type": "synonym" }, { "name": "dolichol kinase", "type": "synonym" } ], "gene_names": [ { "name": "Dolk", "type": "recommended" }, { "name": "CG8311", "type": "synonym" }, { "name": "Dmel\\CG8311", "type": "synonym" }, { "name": "Dmel_CG8311", "type": "synonym" }, { "name": "Dolk", "type": "synonym" } ], "record_id": "A1ZAI1-1", "evidence": [ { "id": "0080565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080565" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0080565" }