{ "disease_id": "DOID:0110728", "recommended_name": { "id": "DOID:0110728", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110728", "name": "neuronal ceroid lipofuscinosis 5", "description": "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22." }, "synonyms": [ { "id": "DOID:0110728", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110728", "name": "CLN5", "description": "" }, { "id": "DOID:0110728", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110728", "name": "neuronal ceroid lipofuscinosis 5 variable age of onset", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "neuronal ceroid lipofuscinosis 5", "description": "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms." }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "CLN5", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "CLN5 neuronal ceroid lipofuscinosis", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "ceroid lipofuscinosis, neuronal, type 5", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "neuronal ceroid lipofuscinosis caused by mutation in CLN5", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "neuronal ceroid lipofuscinosis type 5", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "CLN5 disease, adult", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "CLN5 disease, juvenile", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "CLN5 disease, late infantile (subtype)", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "ceroid lipofuscinosis, neuronal, 5", "description": "" }, { "id": "MONDO:0009745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "name": "neuronal ceroid lipofuscinosis Finnish variant", "description": "" }, { "id": "MIM:256731", "resource": "MIM", "url": "https://www.omim.org/entry/256731", "name": "Ceroid lipofuscinosis, neuronal, 5", "description": "Ceroid lipofuscinosis, neuronal, 5" } ], "children": [], "id_list": [ "DOID:0110728" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0110728", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110728", "categories": [] }, { "id": "MONDO:0009745", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009745", "categories": [] }, { "id": "MIM:256731", "database": "MIM", "url": "https://www.omim.org/entry/256731", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0AA54CSY2-1", "uniprot_ac": "A0AA54CSY2", "uniprot_id": "A0AA54CSY2_DANRE", "refseq_ac": "XP_009302855", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Bis(monoacylglycero)phosphate synthase CLN5", "type": "recommended" }, { "name": "Ceroid-lipofuscinosis neuronal protein 5", "type": "synonym" }, { "name": "Palmitoyl protein thioesterase CLN5", "type": "synonym" }, { "name": "S-depalmitoylase CLN5", "type": "synonym" }, { "name": "bis(monoacylglycero)phosphate synthase CLN5", "type": "synonym" } ], "gene_names": [ { "name": "cln5", "type": "recommended" }, { "name": "cln5", "type": "synonym" } ], "record_id": "A0AA54CSY2-1", "evidence": [ { "id": "0110728", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110728" } ] }, { "uniprot_canonical_ac": "Q3UMW8-1", "uniprot_ac": "Q3UMW8", "uniprot_id": "CLN5_MOUSE", "refseq_ac": "NP_001028414", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Bis(monoacylglycero)phosphate synthase CLN5", "type": "recommended" }, { "name": "2.3.1.-", "type": "synonym" }, { "name": "3.1.2.22", "type": "synonym" }, { "name": "BMP synthase CLN5", "type": "synonym" }, { "name": "Ceroid-lipofuscinosis neuronal protein 5", "type": "synonym" }, { "name": "Palmitoyl protein thioesterase CLN5", "type": "synonym" }, { "name": "Protein CLN5", "type": "synonym" }, { "name": "S-depalmitoylase CLN5", "type": "synonym" }, { "name": "bis(monoacylglycero)phosphate synthase CLN5 precursor", "type": "synonym" }, { "name": "bis(monoacylglycero)phosphate synthase CLN5", "type": "synonym" }, { "name": "ceroid-lipofuscinosis neuronal protein 5 homolog", "type": "synonym" }, { "name": "palmitoyl protein thioesterase CLN5", "type": "synonym" } ], "gene_names": [ { "name": "Cln5", "type": "recommended" }, { "name": "A730075N08Rik", "type": "synonym" }, { "name": "Bmps", "type": "synonym" }, { "name": "Cln5", "type": "synonym" } ], "record_id": "Q3UMW8-1", "evidence": [ { "id": "0110728", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110728" } ] }, { "uniprot_canonical_ac": "O75503-1", "uniprot_ac": "O75503", "uniprot_id": "CLN5_HUMAN", "refseq_ac": "NP_006484", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Bis(monoacylglycero)phosphate synthase CLN5", "type": "recommended" }, { "name": "2.3.1.-", "type": "synonym" }, { "name": "3.1.2.22", "type": "synonym" }, { "name": "BMP synthase CLN5", "type": "synonym" }, { "name": "CLN5 intracellular trafficking protein", "type": "synonym" }, { "name": "Ceroid-lipofuscinosis neuronal protein 5", "type": "synonym" }, { "name": "Palmitoyl protein thioesterase CLN5", "type": "synonym" }, { "name": "Protein CLN5", "type": "synonym" }, { "name": "S-depalmitoylase CLN5", "type": "synonym" }, { "name": "bis(monoacylglycero)phosphate synthase CLN5 isoform 1", "type": "synonym" }, { "name": "bis(monoacylglycero)phosphate synthase CLN5", "type": "synonym" }, { "name": "ceroid-lipofuscinosis neuronal protein 5", "type": "synonym" }, { "name": 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"name": "3.1.2.22", "type": "synonym" }, { "name": "Ceroid-lipofuscinosis neuronal protein 5", "type": "synonym" }, { "name": "Palmitoyl protein thioesterase CLN5", "type": "synonym" }, { "name": "S-depalmitoylase CLN5", "type": "synonym" }, { "name": "ceroid-lipofuscinosis neuronal protein 5 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Cln5", "type": "recommended" }, { "name": "AABR07008608.1", "type": "synonym" }, { "name": "AABR07019209.2", "type": "synonym" }, { "name": "Cln5", "type": "synonym" } ], "record_id": "A0A1W2Q672-1", "evidence": [ { "id": "0110728", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110728" } ] }, { "uniprot_canonical_ac": "P39069-1", "uniprot_ac": "P39069", "uniprot_id": "KAD1_RAT", "refseq_ac": "NP_077325", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Adenylate kinase isoenzyme 1", "type": "recommended" }, { "name": "2.7.4.3", "type": "synonym" }, { "name": "2.7.4.4", "type": "synonym" }, { "name": "2.7.4.6", "type": "synonym" }, { "name": "AK 1", "type": "synonym" }, { "name": "ATP-AMP transphosphorylase 1", "type": "synonym" }, { "name": "ATP:AMP phosphotransferase", "type": "synonym" }, { "name": "Adenylate monophosphate kinase", "type": "synonym" }, { "name": "Myokinase", "type": "synonym" }, { "name": "adenylate kinase isoenzyme 1-like", "type": "synonym" }, { "name": "adenylate kinase isoenzyme 1", "type": "synonym" }, { "name": "adenylate monophosphate kinase", "type": "synonym" }, { "name": "myokinase", "type": "synonym" } ], "gene_names": [ { "name": "AABR07051450.1", "type": "recommended" }, { "name": "Ak1", "type": "recommended" }, { "name": "AABR07051450.1", "type": "synonym" }, { "name": "AK1", "type": "synonym" }, { "name": "Ak 1", "type": "synonym" }, { "name": "Ak1", "type": "synonym" } ], "record_id": "P39069-1", 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