{
    "disease_id": "DOID:0080061",
    "recommended_name": {
        "id": "DOID:0080061",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080061",
        "name": "autosomal recessive spinocerebellar ataxia 2",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0080061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080061",
            "name": "SCAR2",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "autosomal recessive spinocerebellar ataxia 2",
            "description": "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training."
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "PMPCA autosomal recessive congenital cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "SCAR2",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "autosomal recessive spinocerebellar ataxia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "CPD3",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "CPDIII",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "cerebellar granular cell hypoplasia and mental retardation, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0008943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "name": "spinocerebellar ataxia, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MIM:213200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/213200",
            "name": "Spinocerebellar ataxia, autosomal recessive, 2",
            "description": "Spinocerebellar ataxia, autosomal recessive, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080061"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080061",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080061",
            "categories": []
        },
        {
            "id": "MONDO:0008943",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008943",
            "categories": []
        },
        {
            "id": "MIM:213200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/213200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DC61-1",
            "uniprot_ac": "Q9DC61",
            "uniprot_id": "MPPA_MOUSE",
            "refseq_ac": "NP_775272",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial-processing peptidase subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-MPP",
                    "type": "synonym"
                },
                {
                    "name": "Inactive zinc metalloprotease alpha",
                    "type": "synonym"
                },
                {
                    "name": "P-55",
                    "type": "synonym"
                },
                {
                    "name": "inactive zinc metalloprotease alpha",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial matrix processing protease, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing peptidase subunit alpha isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing peptidase subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pmpca",
                    "type": "recommended"
                },
                {
                    "name": "1200002L24Rik",
                    "type": "synonym"
                },
                {
                    "name": "4933435E07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-MPP",
                    "type": "synonym"
                },
                {
                    "name": "Inpp5e",
                    "type": "synonym"
                },
                {
                    "name": "P-55",
                    "type": "synonym"
                },
                {
                    "name": "Pmpca",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DC61-1",
            "evidence": [
                {
                    "id": "0080061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q10713-1",
            "uniprot_ac": "Q10713",
            "uniprot_id": "MPPA_HUMAN",
            "refseq_ac": "NP_001269873",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial-processing peptidase subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-MPP",
                    "type": "synonym"
                },
                {
                    "name": "Cerebellar ataxia-1",
                    "type": "synonym"
                },
                {
                    "name": "Inactive zinc metalloprotease alpha",
                    "type": "synonym"
                },
                {
                    "name": "P-55",
                    "type": "synonym"
                },
                {
                    "name": "cerebellar ataxia 1 (autosomal recessive)",
                    "type": "synonym"
                },
                {
                    "name": "inactive zinc metalloprotease alpha",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate-5-phosphatase, 72 kD",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial matrix processing protease, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing peptidase subunit alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing peptidase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "peptidase, mitochondrial processing alpha subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMPCA",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-MPP",
                    "type": "synonym"
                },
                {
                    "name": "CLA1",
                    "type": "synonym"
                },
                {
                    "name": "CPD3",
                    "type": "synonym"
                },
                {
                    "name": "INPP5E",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0123",
                    "type": "synonym"
                },
                {
                    "name": "MAS2",
                    "type": "synonym"
                },
                {
                    "name": "MPPA",
                    "type": "synonym"
                },
                {
                    "name": "P-55",
                    "type": "synonym"
                },
                {
                    "name": "PMPCA",
                    "type": "synonym"
                },
                {
                    "name": "SCAR2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q10713-1",
            "evidence": [
                {
                    "id": "213200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/213200"
                },
                {
                    "id": "0080061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11914-1",
            "uniprot_ac": "P11914",
            "uniprot_id": "MPPA_YEAST",
            "refseq_ac": "NP_011889",
            "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": "Mitochondrial-processing peptidase subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-MPP",
                    "type": "synonym"
                },
                {
                    "name": "Inactive zinc metalloprotease alpha",
                    "type": "synonym"
                },
                {
                    "name": "MPP",
                    "type": "synonym"
                },
                {
                    "name": "Matrix processing peptidase",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial assembly protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial import function protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial-processing protease subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAS2",
                    "type": "recommended"
                },
                {
                    "name": "MAS2",
                    "type": "synonym"
                },
                {
                    "name": "MIF2",
                    "type": "synonym"
                }
            ],
            "record_id": "P11914-1",
            "evidence": [
                {
                    "id": "0080061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080061"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20069-1",
            "uniprot_ac": "P20069",
            "uniprot_id": "MPPA_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial-processing peptidase subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-MPP",
                    "type": "synonym"
                },
                {
                    "name": "Inactive zinc metalloprotease alpha",
                    "type": "synonym"
                },
                {
                    "name": "P-55",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pmpca",
                    "type": "recommended"
                },
                {
                    "name": "Mppa",
                    "type": "synonym"
                }
            ],
            "record_id": "P20069-1",
            "evidence": [
                {
                    "id": "0080061",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080061"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080061"
}