loading...| Preferred Name |
neurodegeneration with brain iron accumulation 4 |
| Synonyms |
MPAN neurodegeneration with brain iron accumulation 4 NBIA due to C19orf12 mutation mitochondrial membrane protein-associated neurodegeneration neurodegeneration with brain iron accumulation caused by mutation in C19orf12 mitochondrial Protein-associated neurodegeneration NBIA4 neurodegeneration with brain iron accumulation due to C19orf12 mutation neurodegeneration with brain iron accumulation type 4 C19orf12 neurodegeneration with brain iron accumulation |
| Definitions |
Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0013674 |
| database_cross_reference |
DOID:0110738 Orphanet:289560 ICD9:333.0 SCTID:709415008 NCIT:C175707 GARD:0012569 UMLS:C3280371 OMIM:614298 |
| definition |
Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities. |
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C175707 http://purl.obolibrary.org/obo/Orphanet_289560 http://purl.obolibrary.org/obo/DOID_0110738 |
| has_exact_synonym |
MPAN neurodegeneration with brain iron accumulation 4 NBIA due to C19orf12 mutation neurodegeneration with brain iron accumulation caused by mutation in C19orf12 mitochondrial Protein-associated neurodegeneration NBIA4 neurodegeneration with brain iron accumulation due to C19orf12 mutation neurodegeneration with brain iron accumulation type 4 C19orf12 neurodegeneration with brain iron accumulation |
| has_related_synonym |
mitochondrial membrane protein-associated neurodegeneration |
| id |
MONDO:0013674 |
| in_subset | |
| label |
neurodegeneration with brain iron accumulation 4 |
| notation |
MONDO:0013674 |
| prefLabel |
neurodegeneration with brain iron accumulation 4 |
| treeView | |
| subClassOf |