eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| neuroferritinopathy | ||||
| Disease ID | 931 |
|---|---|
| Disease | neuroferritinopathy |
| Definition | Neuroferritinopathy or adult-onset basal ganglia disease is a genetic neurodegenerative disorder characterized by the accumulation of iron in the basal ganglia, cerebellum, and motor cortex of the human brain. Symptoms, which are extrapyramidal in nature, progress slowly and generally do not become apparent until adulthood.[1] These symptoms include chorea, dystonia, and cognitive deficits which worsen with age.[2] [3] - Wikipedia Reference: https://en.wikipedia.org/wiki/neuroferritinopathy |
| Synonym | adult onset basal ganglia disease basal ganglia disease, adult-onset ferritin related neurodegeneration ferritin-related neurodegeneration hereditary ferritinopathy neuroferritinopathy (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C1853578 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) FTL | 19q13.33 |
| Disease ID | 931 |
|---|---|
| Disease | neuroferritinopathy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0000708 | Behavioral abnormality HP:0001257 | Spasticity HP:0001618 | Dysphonia HP:0002067 | Bradykinesia HP:0001251 | Ataxia HP:0001288 | Gait disturbance HP:0000496 | Abnormality of eye movement HP:0002015 | Dysphagia HP:0002019 | Constipation HP:0002615 | Hypotension HP:0000726 | Dementia HP:0001332 | Dystonia HP:0001264 | Spastic diplegia HP:0001300 | Parkinsonism HP:0000648 | Optic atrophy HP:0000546 | Retinal degeneration HP:0002072 | Chorea HP:0002310 | Orofacial dyskinesia HP:0002376 | Developmental regression HP:0002463 | Language impairment HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0002072 | Chorea | 2 HP:0000733 | Repetitive movements | 1 HP:0100033 | Tic disorder | 1 HP:0002315 | Headaches | 1 |
| Disease ID | 931 |
|---|---|
| Disease | neuroferritinopathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0026650 | movement disorders |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894685 | NA | 2512 | FTL | umls:C1853578 | CLINVAR | NA | 0.485157396 | NA | FTL | 19 | 48966317 | G | A |
| rs398124640 | NA | 2512 | FTL | umls:C1853578 | CLINVAR | NA | 0.485157396 | NA | FTL | 19 | 48966691 | - | GGCCCGGAGGCTGGGC |
| rs587776840 | NA | 2512 | FTL | umls:C1853578 | CLINVAR | NA | 0.485157396 | NA | FTL | 19 | 48966665 | - | A |
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:0000496 | Abnormality of eye movement | MP:0012287 | increased frequency of paradoxical sleep | increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity |
| HP:0000546 | Retinal degeneration | MP:0009412 | skeletal muscle fiber degeneration | pathological deterioration of skeletal muscle fiber tissue, often accompanied by loss of function |
| 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:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002463 | Language impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000726 | Dementia | 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:0001264 | Spastic diplegia | 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: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:0000496 | Abnormality of eye movement | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002615 | Hypotension | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000546 | Retinal degeneration | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002072 | Chorea | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002376 | Developmental regression | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001300 | Parkinsonism | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001618 | Dysphonia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0002019 | Constipation | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002067 | Bradykinesia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002310 | Orofacial dyskinesia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 931 |
|---|---|
| Disease | neuroferritinopathy |
| Case | (Waiting for update.) |