eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| neurodegeneration with brain iron accumulation | ||||
| Disease ID | 1610 |
|---|---|
| Disease | neurodegeneration with brain iron accumulation |
| Definition | Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurological disorders in which iron accumulates in the basal ganglia, resulting in progressive dystonia, Parkinsonism, spasticity, optic atrophy or retinal degeneration and neuropsychiatric abnormalities. NBIA have been associated with genes in synapse and lipid metabolism related pathways.[1] Describes a group of disorders characterized by an accumulation of brain iron and the presence of axonal spheroids in the central nervous system.[2] Iron accumulation can occur any where in the brain, with accumulation typically occurring in globus pallidus, substantia nigra, pars reticula, striatum and cerebellar dentate nuclei.[3] Symptoms can include various movement disorders, seizures, visual disturbances, and cognitive decline, usually in combination.[3] The known causes of NBIA disorders are mutation in genes directly involved in iron metabolism, impaired phospholipid and ceramide metabolism, lysosomal disorders, as well as mutations in genes with unknown functions.[3] Onset can occur at different ages, from early childhood to late adulthood.[3] Magnetic resonance imaging (MRI) is used to distinguish between the different forms of NBIA due to the accumulation of iron in different areas of the brain.[4] Patients typically fall into two different categories: (1) early onset, rapid progression or (2) late onset, slow progression.[4] The first type is considered to be the classic presentation, while they second type is the atypical presentation. Phenotypes of the different disorders appear to be dependent on age, i.e. amount of iron accumulation, cognitive ability.[5] - Wikipedia Reference: https://en.wikipedia.org/wiki/neurodegeneration with brain iron accumulation |
| Orphanet | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0013421 | dystonia | 2 C0338473 | neuroaxonal dystrophy | 1 C1858581 | aceruloplasminemia | 1 C0033975 | psychotic disorder | 1 C0282193 | iron overload | 1 C0004134 | ataxia | 1 C0016719 | friedreich's ataxia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:58) 26090 | ABHD12 | 2.038 | DISEASES 212 | ALAS2 | 1.316 | DISEASES 224 | ALDH3A2 | 1.281 | DISEASES 1822 | ATN1 | 1.904 | DISEASES 57130 | ATP13A1 | 3.292 | DISEASES 23400 | ATP13A2 | 4.957 | DISEASES 344905 | ATP13A5 | 3.413 | DISEASES 23545 | ATP6V0A2 | 1.292 | DISEASES 617 | BCS1L | 2.232 | DISEASES 83636 | C19orf12 | 6.874 | DISEASES 203228 | C9orf72 | 1.76 | DISEASES 1267 | CNP | 1.652 | DISEASES 80347 | COASY | 5.43 | DISEASES 80067 | DCAF17 | 4.156 | DISEASES 28514 | DLL1 | 2.207 | DISEASES 2259 | FGF14 | 3.082 | DISEASES 2512 | FTL | 6.695 | DISEASES 2395 | FXN | 2.888 | DISEASES 2643 | GCH1 | 2.236 | DISEASES 2869 | GRK5 | 1.9 | DISEASES 3052 | HCCS | 2.262 | DISEASES 9843 | HEPH | 1.459 | DISEASES 3077 | HFE | 2.664 | DISEASES 148738 | HFE2 | 2.348 | DISEASES 3182 | HNRNPAB | 2.641 | DISEASES 3792 | KEL | 1.56 | DISEASES 149175 | MANEAL | 3.505 | DISEASES 4668 | NAGA | 2.482 | DISEASES 63908 | NAPB | 3.571 | DISEASES 283869 | NPW | 2.265 | DISEASES 4958 | OMD | 1.296 | DISEASES 55229 | PANK4 | 3.411 | DISEASES 5071 | PARK2 | 1.081 | DISEASES 11315 | PARK7 | 1.223 | DISEASES 8398 | PLA2G6 | 6.712 | DISEASES 57104 | PNPLA2 | 3.088 | DISEASES 10908 | PNPLA6 | 1.815 | DISEASES 11128 | POLR3A | 1.366 | DISEASES 5454 | POU3F2 | 1.426 | DISEASES 56342 | PPAN | 1.511 | DISEASES 116442 | RAB39B | 2.291 | DISEASES 5901 | RAN | 1.466 | DISEASES 23322 | RPGRIP1L | 1.393 | DISEASES 26278 | SACS | 1.084 | DISEASES 4891 | SLC11A2 | 2.446 | DISEASES 254428 | SLC41A1 | 2.056 | DISEASES 6622 | SNCA | 3.715 | DISEASES 6623 | SNCG | 2.481 | DISEASES 6949 | TCOF1 | 2.217 | DISEASES 9895 | TECPR2 | 2.737 | DISEASES 7018 | TF | 1.913 | DISEASES 7037 | TFRC | 1.624 | DISEASES 9804 | TOMM20 | 1.812 | DISEASES 1861 | TOR1A | 2.391 | DISEASES 8725 | URI1 | 1.627 | DISEASES 23230 | VPS13A | 4.291 | DISEASES 7454 | WAS | 2.4 | DISEASES 11152 | WDR45 | 6.892 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1610 |
|---|---|
| Disease | neurodegeneration with brain iron accumulation |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:10) HP:0012675 | Iron accumulation in brain HP:0001257 | Spasticity HP:0002071 | Abnormality of extrapyramidal motor function HP:0000488 | Retinopathy HP:0001272 | Cerebellar atrophy HP:0002063 | Rigidity HP:0001332 | Dystonia HP:0000648 | Optic atrophy HP:0002072 | Chorea HP:0001260 | Dysarthria |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0002180 | Neurodegeneration | 51 HP:0001332 | Dystonia | 2 HP:0001251 | Ataxia | 1 HP:0100033 | Tic disorder | 1 |
| Disease ID | 1610 |
|---|---|
| Disease | neurodegeneration with brain iron accumulation |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| WDR45 | c.G439C (p.G147R) | doi:10.1038/gim.2016.42 | Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2 |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001272 | Cerebellar atrophy | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002071 | Abnormality of extrapyramidal motor function | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000488 | Retinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002063 | Rigidity | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002072 | Chorea | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001272 | Cerebellar atrophy | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002071 | Abnormality of extrapyramidal motor function | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1610 |
|---|---|
| Disease | neurodegeneration with brain iron accumulation |
| Case | (Waiting for update.) |