{ "disease_id": "DOID:1064", "recommended_name": { "id": "DOID:1064", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1064", "name": "cystinosis", "description": "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17." }, "synonyms": [ { "id": "DOID:1064", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1064", "name": "cystine storage disease", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "nephropathic cystinosis", "description": "An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction." }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "Abderhalden Kaufmann Lignac syndrome", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "Abderhalden Lignac Kaufmann disease", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "Abderhalden-Kaufmann-Lignac syndrome", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "Abderhalden-Lignac-Kaufmann disease", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "CTNS", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "cystinosis, atypical nephropathic", "description": "" }, { "id": "MONDO:0100151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "name": "cystinosis, nephropathic", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "juvenile nephropathic cystinosis", "description": "Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes." }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "cystinosis, late-onset juvenile or adolescent nephropathic", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "intermediate cystinosis", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "juvenile cystinosis", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "juvenile nephropathic cystinosis", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "cystinosis, intermediate", "description": "" }, { "id": "MONDO:0009066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "name": "cystinosis, late-onset juvenile or adolescent nephropathic type", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "ocular cystinosis", "description": "Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations." }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "adult-onset cystinosis", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "non-nephropathic cystinosis", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "ocular cystinosis", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "cystinosis, ADULT NONNEPHROPATHIC", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "cystinosis, benign Nonnephropathic", "description": "" }, { "id": "MONDO:0009064", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "name": "cystinosis, ocular Nonnephropathic", "description": "" }, { "id": "MIM:219800", "resource": "MIM", "url": "https://www.omim.org/entry/219800", "name": "Cystinosis, nephropathic type", "description": "Cystinosis, nephropathic type" }, { "id": "MIM:219900", "resource": "MIM", "url": "https://www.omim.org/entry/219900", "name": "Cystinosis, late-onset juvenile or adolescent nephropathic type", "description": "Cystinosis, late-onset juvenile or adolescent nephropathic type" }, { "id": "MIM:219750", "resource": "MIM", "url": "https://www.omim.org/entry/219750", "name": "Cystinosis, adult, non-nephropathic type", "description": "Cystinosis, adult, non-nephropathic type" } ], "children": [], "id_list": [ "DOID:1064" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:1064", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1064", "categories": [] }, { "id": "MONDO:0100151", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100151", "categories": [] }, { "id": "MONDO:0009066", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009066", "categories": [] }, { "id": "MONDO:0009064", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009064", "categories": [] }, { "id": "MIM:219800", "database": "MIM", "url": "https://www.omim.org/entry/219800", "categories": [] }, { "id": "MIM:219900", "database": "MIM", "url": "https://www.omim.org/entry/219900", "categories": [] }, { "id": "MIM:219750", "database": "MIM", "url": "https://www.omim.org/entry/219750", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q9VCR7-1", "uniprot_ac": "Q9VCR7", "uniprot_id": "CTNS_DROME", "refseq_ac": "NP_651116", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Cystinosin", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG17119-PA; Ctns-PA", "resource": "RefSeq", "type": "synonym" }, { "name": "cystinosin, isoform A", "resource": "RefSeq", "type": "synonym" }, { "name": "dCTNS", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Ctns", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG17119; CTNS; dCTNS; Dmel\\CG17119", "resource": "RefSeq", "type": "synonym" }, { "name": "CG17119", "resource": "UniProtKB", "type": "synonym" }, { "name": "Ctns", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1064", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1064" } ] }, { "uniprot_canonical_ac": "P57757-1", "uniprot_ac": "P57757", "uniprot_id": "CTNS_MOUSE", "refseq_ac": "NP_112541", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cystinosin", "resource": "UniProtKB", "type": "recommended" }, { "name": "cystinosin precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "cystinosin", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Ctns", "resource": "UniProtKB", "type": "recommended" }, { "name": "Ctns", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1064", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1064" } ] }, { "uniprot_canonical_ac": "Q64261-1", "uniprot_ac": "Q64261", "uniprot_id": "CDK6_MOUSE", "refseq_ac": "NP_034003", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cyclin-dependent kinase 6", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.11.22", "resource": "UniProtKB", "type": "synonym" }, { "name": "CR2 protein kinase", "resource": "UniProtKB", "type": "synonym" }, { "name": "CRK2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cell division protein kinase 6", "resource": "UniProtKB", "type": "synonym" }, { "name": "Serine/threonine-protein kinase PLSTIRE", "resource": "UniProtKB", "type": "synonym" }, { "name": "cell division protein kinase 6; serine/threonine-protein kinase PLSTIRE; CR2 protein kinase", "resource": "RefSeq", "type": "synonym" }, { "name": "cyclin-dependent kinase 6", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Cdk6", "resource": "UniProtKB", "type": "recommended" }, { "name": "Cdk6", "resource": "RefSeq", "type": "synonym" }, { "name": "Cdkn6", "resource": "UniProtKB", "type": "synonym" }, { "name": "Crk2", "resource": "RefSeq", "type": "synonym" }, { "name": "Crk2", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1064", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1064" } ] }, { "uniprot_canonical_ac": "P30285-1", "uniprot_ac": "P30285", "uniprot_id": "CDK4_MOUSE", "refseq_ac": "NP_034000", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Cyclin-dependent kinase 4", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.11.22", "resource": "UniProtKB", "type": "synonym" }, { "name": "CRK3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cell division protein kinase 4", "resource": "UniProtKB", "type": "synonym" }, { "name": "PSK-J3", "resource": "UniProtKB", "type": "synonym" }, { "name": "cell division protein kinase 4; serine/threonine kinase; PSK-J3; p34/cdk4", "resource": "RefSeq", "type": "synonym" }, { "name": "cyclin-dependent kinase 4 isoform 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Cdk4", "resource": "UniProtKB", "type": "recommended" }, { "name": "Cdk4", "resource": "RefSeq", "type": "synonym" }, { "name": "Crk3", "resource": "RefSeq", "type": "synonym" }, { "name": "Crk3", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1064", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1064" } ] }, { "uniprot_canonical_ac": "P17261-1", "uniprot_ac": "P17261", "uniprot_id": "ERS1_YEAST", "refseq_ac": "NP_010000", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Cystine transporter", "resource": "UniProtKB", "type": "recommended" }, { "name": "ERD suppressor", "resource": "UniProtKB", "type": "synonym" }, { "name": "Transmembrane protein ERS1", "resource": "UniProtKB", "type": "synonym" }, { "name": "cystinosin-like protein ERS1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "ERS1", "resource": "UniProtKB", "type": "recommended" }, { "name": "ERS1", "resource": "RefSeq", "type": "synonym" }, { "name": "YCR75C", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1064", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1064" } ] }, { "uniprot_canonical_ac": "P43568-1", "uniprot_ac": "P43568", "uniprot_id": "CAK1_YEAST", "refseq_ac": "NP_116624", "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": [ { 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"glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Cystinosin", "resource": "UniProtKB", "type": "recommended" }, { "name": "cystinosin isoform 1 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "cystinosis nephropathic", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "CTNS", "resource": "UniProtKB", "type": "recommended" }, { "name": "CTNS-LSB; PQLC4; SLC66A4", "resource": "RefSeq", "type": "synonym" }, { "name": "CTNS", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1064", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1064" }, { "id": "219750", "database": "MIM", "url": "https://www.omim.org/entry/219750" }, { "id": "219800", "database": "MIM", "url": "https://www.omim.org/entry/219800" }, { "id": "219900", "database": "MIM", "url": "https://www.omim.org/entry/219900" } ] }, { "uniprot_canonical_ac": "Q00534-1", 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"url": "https://www.alliancegenome.org/disease/DOID:1064" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.1064" }