eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| narp syndrome | ||||
| Disease ID | 1787 |
|---|---|
| Disease | narp syndrome |
| Synonym | narp - neurogenic muscle weakness, ataxia and retinitis pigmentosa neurogenic muscle weakness, ataxia and retinitis pigmentosa neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder) neurogenic muscle weakness, ataxia, and retinitis pigmentosa neuropathy ataxia and retinis pigmentosa neuropathy ataxia and retinitis pigmentosa neuropathy, ataxia and retinitis pigmentosa (narp syndrome) neuropathy, ataxia, and retinitis pigmentosa neuropathy, ataxia, retinitis pigmentosa syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1328349 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) MT-ATP6 | mitochondria |
| Disease ID | 1787 |
|---|---|
| Disease | narp syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0000639 | Nystagmus HP:0003701 | Proximal limb muscle weakness HP:0001250 | Seizures HP:0003198 | Myopathic changes HP:0001251 | Ataxia HP:0001263 | Developmental retardation HP:0000618 | Blindness HP:0000763 | Sensory neuropathy HP:0000510 | Retinitis pigmentosa HP:0007814 | Focal hypopigmentation of the retinal pigment epithelium HP:0007117 | Corticospinal tract atrophy HP:0000726 | Dementia HP:0003737 | Mitochondrial myopathy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 1787 |
|---|---|
| Disease | narp syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1962966 | retinopathy |
| 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: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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003737 | Mitochondrial myopathy | MP:0000751 | myopathy | any abnormal condition or disease of the skeletal muscle |
| HP:0000510 | Rod-cone dystrophy | MP:0003225 | axonal dystrophy | axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0003701 | Proximal muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001263 | Global developmental delay | 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:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0000726 | Dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007814 | Retinal pigment epithelial mottling | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0001250 | Seizures | 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:0000510 | Rod-cone dystrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0003737 | Mitochondrial myopathy | 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:0000639 | Nystagmus | 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:0003701 | Proximal muscle weakness | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000763 | Sensory neuropathy | 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 |
| Disease ID | 1787 |
|---|---|
| Disease | narp syndrome |
| Case | (Waiting for update.) |