eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| autosomal dominant optic atrophy and cataract | ||||
| Disease ID | 1776 |
|---|---|
| Disease | autosomal dominant optic atrophy and cataract |
| Definition | A form of autosomal dominant optic atrophy with characteristics of early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. Caused by mutations in the OPA3 gene (19q13.32). |
| Synonym | autosomal dominant optic atrophy and cataract (disorder) autosomal dominant optic atrophy type 3 opa3, autosomal dominant optic atrophy 3, autosomal dominant optic atrophy and cataract, autosomal dominant optic atrophy, cataract, and neurologic disorder |
| Orphanet | |
| OMIM | |
| UMLS | C1833809 |
| 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) OPA3 | 19q13.32 |
| Disease ID | 1776 |
|---|---|
| Disease | autosomal dominant optic atrophy and cataract |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:35) HP:0000639 | Nystagmus HP:0010923 | Anterior subcapsular cataract HP:0007076 | Extrapyramidal muscular rigidity HP:0000518 | Cataract HP:0007976 | Cerulean cataract HP:0003474 | Sensory impairment HP:0012531 | Pain HP:0002522 | Areflexia of lower limbs HP:0007663 | Reduced visual acuity HP:0003401 | Paresthesia HP:0001251 | Ataxia HP:0000618 | Blindness HP:0002403 | Positive Romberg sign HP:0000603 | Central scotoma HP:0001172 | Abnormality of the thumb HP:0003394 | Muscle cramps HP:0010522 | Dyslexia HP:0001315 | Reduced tendon reflexes HP:0007787 | Posterior subcapsular cataract HP:0002174 | Postural tremor HP:0001377 | Limited elbow extension HP:0009468 | Deviation of the 2nd finger HP:0010924 | Posterior cortical cataract HP:0006248 | Limited wrist movement HP:0000552 | Tritanomaly HP:0001284 | Areflexia HP:0007795 | Anterior cortical cataract HP:0000648 | Optic atrophy HP:0002322 | Resting tremor HP:0001761 | Pes cavus HP:0000505 | Visual impairment HP:0002317 | Unsteady gait HP:0001272 | Cerebellar atrophy HP:0003438 | Absent Achilles reflex HP:0000642 | Red-green dyschromatopsia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1776 |
|---|---|
| Disease | autosomal dominant optic atrophy and cataract |
| 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 |
| rs80356524 | NA | 80207 | OPA3 | umls:C1833809 | CLINVAR | NA | 0.48 | NA | OPA3 | 19 | 45553777 | C | T |
| rs80356525 | NA | 80207 | OPA3 | umls:C1833809 | CLINVAR | NA | 0.48 | NA | OPA3 | 19 | 45553741 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| 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:0002317 | Unsteady gait | MP:0001406 | abnormal gait | abnormal pattern of movement of the limbs of animals, characterized by elements of progression, stability, speed and length over the ground |
| HP:0001172 | Abnormality of the thumb | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
| HP:0007976 | Cerulean cataract | MP:0001304 | cataract | complete or partial opacity of the lens |
| 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 |
| HP:0002522 | Areflexia of lower limbs | MP:0004485 | increased response of heart to induced stress | increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding |
| HP:0007787 | Posterior subcapsular cataract | MP:0001304 | cataract | complete or partial opacity of the lens |
| HP:0007663 | Reduced visual acuity | MP:0006149 | decreased visual acuity | loss of visual acuity or ability to distinguish small details |
Mapped by homologous gene(Total Items:31) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007076 | Extrapyramidal muscular rigidity | 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:0012531 | Pain | MP:0011968 | decreased threshold for auditory brainstem response | reduction in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system |
| HP:0002522 | Areflexia of lower limbs | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002174 | Postural tremor | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0007663 | Reduced visual acuity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001377 | Limited elbow extension | 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:0001172 | Abnormality of the thumb | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0001284 | Areflexia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003474 | Sensory impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003394 | Muscle cramps | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0010522 | Dyslexia | MP:0011747 | myelofibrosis | appearance of fibrous connective tissue in the bone marrow, often resulting from inflammation or injury; especially replacement of the marrow with collagenous connective tissue fibers, frequently accompanied by splenomegaly and anemia or cytopenias |
| 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:0003401 | Paresthesia | 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:0002322 | Resting tremor | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007976 | Cerulean cataract | MP:0011962 | increased cornea thickness | increased width of the cornea in the center plane |
| HP:0000518 | Cataract | 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:0002403 | Positive Romberg sign | 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:0002317 | Unsteady gait | 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:0003438 | Absent Achilles reflex | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0001761 | Pes cavus | 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:0006248 | Limited wrist movement | MP:0013167 | abnormal hindlimb bud morphology | any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species) |
| 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:0000603 | Central scotoma | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000642 | Red-green dyschromatopsia | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000552 | Tritanomaly | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0007787 | Posterior subcapsular cataract | MP:0014059 | abnormal photoreceptor connecting cilium morphology | any structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments |
| HP:0000505 | Visual impairment | 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:0001315 | Reduced tendon reflexes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1776 |
|---|---|
| Disease | autosomal dominant optic atrophy and cataract |
| Case | (Waiting for update.) |