eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| progressive non-fluent aphasia | ||||
| Disease ID | 1772 |
|---|---|
| Disease | progressive non-fluent aphasia |
| Definition | A form of frontotemporal lobar degeneration and a progressive form of dementia characterized by motor speech impairment and AGRAMMATISM, with relative sparing of single word comprehension and semantic memory. |
| Synonym | aphasia, progressive nonfluent aphasias, progressive nonfluent non fluent primary progressive aphasia non-fluent primary progressive aphasia nonfluent aphasia, progressive nonfluent aphasias, progressive ppa syndrome ppa syndromes primary progressive non fluent aphasia primary progressive non fluent aphasia (disorder) primary progressive nonfluent aphasia primary progressive nonfluent aphasia [disease/finding] progressive nonfluent aphasia progressive nonfluent aphasias syndrome, ppa syndromes, ppa |
| Orphanet | |
| UMLS | C0751706 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0085084 | motor neuron disease | 1 C0002395 | alzheimer's disease | 1 C0003635 | apraxia | 1 C0497327 | dementia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:7) |
| Disease ID | 1772 |
|---|---|
| Disease | progressive non-fluent aphasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0001297 | Stroke HP:0002186 | Apraxia HP:0002366 | Abnormal lower motor neuron morphology HP:0006977 | Grammar-specific speech disorder HP:0001268 | Mental deterioration HP:0002354 | Memory impairment HP:0000474 | Thickened nuchal skin fold HP:0001300 | Parkinsonism HP:0007112 | Temporal cortical atrophy HP:0100256 | Senile plaques HP:0030223 | Perseveration HP:0002185 | Neurofibrillary tangles HP:0000739 | Anxiety HP:0010523 | Alexia HP:0000711 | Restlessness HP:0002446 | Astrocytosis HP:0002145 | Frontotemporal dementia HP:0000708 | Behavioral abnormality HP:0002071 | Abnormality of extrapyramidal motor function HP:0011204 | EEG with continuous slow activity HP:0006892 | Frontotemporal cerebral atrophy HP:0030692 | Brain neoplasm HP:0002300 | Mutism HP:0012658 | Abnormal brain FDG positron emission tomography HP:0002427 | Motor aphasia HP:0000751 | Personality changes HP:0100315 | Lewy bodies HP:0010526 | Dysgraphia HP:0030391 | Spoken Word Recognition Deficit HP:0002357 | Dysphasia HP:0000716 | Depression HP:0002500 | Abnormality of the cerebral white matter HP:0002381 | Aphasia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0000726 | Dementia | 1 HP:0001300 | Parkinsonism | 1 HP:0011098 | Verbal dyspraxia | 1 HP:0002167 | Speech disorder | 1 HP:0002186 | Apraxia | 1 |
| Disease ID | 1772 |
|---|---|
| Disease | progressive non-fluent aphasia |
| Manually Symptom | (Waiting for update.) |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs63750869 | 21343707 | 4137 | MAPT | umls:C0751706 | BeFree | The V363I mutation of the microtubule-associated protein tau gene has previously been associated with a case of primary progressive nonfluent aphasia with variable penetrance. | 0.120814326 | 2011 | MAPT | 17 | 46018707 | G | A |
| rs63750869 | 17712160 | 4137 | MAPT | umls:C0751706 | BeFree | Progressive nonfluent aphasia associated with a new mutation V363I in tau gene. | 0.120814326 | 2007 | MAPT | 17 | 46018707 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002500 | Abnormality of the cerebral white matter | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0002185 | Neurofibrillary tangles | MP:0003214 | neurofibrillary tangles | dense intraneuronal accumulations of helical filaments (neurofilaments and microtubules) that assume twisted contorted patterns; found in subclasses of cells of the neocortex, hippocampus, brain stem, and diencephalon in individuals with Alzheimer disease |
| HP:0000474 | Thickened nuchal skin fold | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0006892 | Frontotemporal cerebral atrophy | MP:0009417 | skeletal muscle atrophy | acquired diminution of the size of skeletal muscle tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or |
| HP:0002366 | Abnormal lower motor neuron morphology | MP:0011448 | decreased dopaminergic neuron number | fewer than normal numbers of the neurons that utilize dopamine as a neurotransmitter |
| 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 |
Mapped by homologous gene(Total Items:25) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002300 | Mutism | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002381 | Aphasia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000474 | Thickened nuchal skin fold | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0030223 | Perseveration | 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:0002427 | Motor aphasia | MP:0010400 | increased liver glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in liver |
| HP:0002145 | Frontotemporal dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001268 | Mental deterioration | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001300 | Parkinsonism | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0006892 | Frontotemporal cerebral atrophy | MP:0011635 | abnormal mitochondrial crista morphology | Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, whe |
| HP:0001297 | Stroke | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000751 | Personality changes | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002366 | Abnormal lower motor neuron morphology | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000711 | Restlessness | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002500 | Abnormality of the cerebral white matter | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007112 | Temporal cortical atrophy | MP:0011635 | abnormal mitochondrial crista morphology | Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, whe |
| 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 |
| HP:0002185 | Neurofibrillary tangles | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002446 | Astrocytosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002354 | Memory impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002357 | Dysphasia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002186 | Apraxia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100315 | Lewy bodies | MP:0011635 | abnormal mitochondrial crista morphology | Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, whe |
| Disease ID | 1772 |
|---|---|
| Disease | progressive non-fluent aphasia |
| Case | (Waiting for update.) |