eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| leber hereditary optic neuropathy | ||||
| Disease ID | 30 |
|---|---|
| Disease | leber hereditary optic neuropathy |
| Definition | A hereditary disorder caused by mitochondrial mutations, resulting in the degeneration of the retinal ganglion cells and optic atrophy. It is characterized by an acute or subacute loss of central vision. It may initially affect one eye only, but eventually the central loss of vision becomes bilateral. |
| Synonym | disease, leber's diseases, leber's hereditary optic neuroretinopathies hereditary optic neuroretinopathy leber disease leber hereditary optic atrophy leber optic atrophy leber optic atrophy and dystonia leber optic atrophy features leber optic degeneration leber optic neuropathy leber's diseases leber's hereditary optic atrophy leber's hereditary optic neuropathy leber's hereditary optic neuropathy (disorder) leber's optic atrophy leber's optic atrophy (disorder) leber's optic neuropathy lebers disease lebers optic neuropathy lhon lhon - leber hereditary optic neuropathy lhon - leber's hereditary optic neuropathy neuropathy, leber's optic neuroretinopathies, hereditary optic neuroretinopathy, hereditary optic optic atrophy, hereditary, leber optic atrophy, hereditary, leber [disease/finding] optic atrophy, leber optic atrophy, leber type optic atrophy, leber's optic atrophy, leber, hereditary optic neuropathy, leber's optic neuroretinopathies, hereditary optic neuroretinopathy, hereditary |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0917796 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0029132 | optic neuropathies | 2 C0456909 | vision loss | 2 C0520680 | central sleep apnea | 1 C0017601 | glaucoma | 1 C0017612 | open-angle glaucoma | 1 C0026769 | multiple sclerosis | 1 C0016063 | fibrous dysplasia of bone | 1 C0442874 | neuropathy | 1 C0037315 | sleep apnea | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:14) 3553 | IL1B | CTD_human 3552 | IL1A | CTD_human 4538 | MT-ND4 | GHR;UNIPROT;UniProtKB-KW 4508 | MT-ATP6 | UniProtKB-KW;UNIPROT 4535 | MT-ND1 | GHR;UNIPROT;UniProtKB-KW 4536 | MT-ND2 | UniProtKB-KW;UNIPROT 4540 | MT-ND5 | UniProtKB-KW;UNIPROT 4541 | MT-ND6 | GHR;UNIPROT;UniProtKB-KW 4514 | MT-CO3 | UniProtKB-KW;UNIPROT 9227 | LRAT | CTD_human 4519 | MT-CYB | UniProtKB-KW;UNIPROT 6121 | RPE65 | CTD_human 4512 | MT-CO1 | UniProtKB-KW 4539 | MT-ND4L | GHR;UNIPROT;UniProtKB-KW |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:13) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:60) 24 | ABCA4 | 1.907 | DISEASES 55256 | ADI1 | 2.84 | DISEASES 361 | AQP4 | 1.789 | DISEASES 712 | C1QA | 1.564 | DISEASES 720 | C4A | 1.22 | DISEASES 1121 | CHM | 2.473 | DISEASES 1351 | COX8A | 2.326 | DISEASES 1415 | CRYBB2 | 1.766 | DISEASES 1431 | CS | 1.374 | DISEASES 2021 | ENDOG | 1.238 | DISEASES 23464 | GCAT | 2.927 | DISEASES 3295 | HSD17B4 | 1.235 | DISEASES 10989 | IMMT | 2.093 | DISEASES 11202 | KLK8 | 1.094 | DISEASES 348801 | LNP1 | 2.059 | DISEASES 57129 | MRPL47 | 3.067 | DISEASES 4508 | MT-ATP6 | 4.571 | DISEASES 4509 | MT-ATP8 | 2.569 | DISEASES 4512 | MT-CO1 | 3.33 | DISEASES 4513 | MT-CO2 | 1.845 | DISEASES 4514 | MT-CO3 | 3.618 | DISEASES 4519 | MT-CYB | 4.34 | DISEASES 4535 | MT-ND1 | 5.901 | DISEASES 4536 | MT-ND2 | 3.857 | DISEASES 4537 | MT-ND3 | 3.963 | DISEASES 4538 | MT-ND4 | 8.873 | DISEASES 4539 | MT-ND4L | 5.005 | DISEASES 4540 | MT-ND5 | 5.492 | DISEASES 4541 | MT-ND6 | 7.014 | DISEASES 4550 | MT-RNR2 | 2.533 | DISEASES 4511 | MT-TC | 2.535 | DISEASES 4556 | MT-TE | 3.707 | DISEASES 4558 | MT-TF | 2.141 | DISEASES 4566 | MT-TK | 4.69 | DISEASES 4647 | MYO7A | 1.82 | DISEASES 4694 | NDUFA1 | 5.01 | DISEASES 51079 | NDUFA13 | 1.643 | DISEASES 4698 | NDUFA5 | 2.716 | DISEASES 4723 | NDUFV1 | 1.827 | DISEASES 594857 | NPS | 2.566 | DISEASES 10896 | OCLM | 2.718 | DISEASES 94233 | OPN4 | 3.954 | DISEASES 55486 | PARL | 3.028 | DISEASES 5080 | PAX6 | 1.551 | DISEASES 5160 | PDHA1 | 1.273 | DISEASES 23590 | PDSS1 | 2.929 | DISEASES 29944 | PNMA3 | 1.905 | DISEASES 6247 | RS1 | 1.207 | DISEASES 6563 | SLC14A1 | 1.809 | DISEASES 6622 | SNCA | 1.366 | DISEASES 6648 | SOD2 | 1.816 | DISEASES 8803 | SUCLA2 | 1.632 | DISEASES 8802 | SUCLG1 | 1.591 | DISEASES 6834 | SURF1 | 1.092 | DISEASES 7019 | TFAM | 2.052 | DISEASES 1678 | TIMM8A | 1.144 | DISEASES 7170 | TPM3 | 1.065 | DISEASES 6399 | TRAPPC2 | 2.332 | DISEASES 134430 | WDR36 | 1.34 | DISEASES 51067 | YARS2 | 1.942 | DISEASES |
| Locus | Symbol | Locus(Total Locus:10) |
| Disease ID | 30 |
|---|---|
| Disease | leber hereditary optic neuropathy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:31) HP:0001112 | Leber optic atrophy HP:0003198 | Myopathy HP:0000572 | Visual loss HP:0004309 | Ventricular preexcitation HP:0000622 | Blurred vision HP:0002490 | Increased CSF lactate HP:0000648 | Optic-nerve degeneration HP:0002305 | Involuntary writhing movements HP:0001257 | Spasticity HP:0001251 | Ataxia HP:0000603 | Central scotoma HP:0009830 | Peripheral neuropathy HP:0001332 | Dystonia HP:0009830 | Peripheral neuritis HP:0200125 | Mitochondrial respiratory chain defects HP:0002174 | Postural tremor HP:0001249 | Mental retardation HP:0002067 | Bradykinesia HP:0007763 | Retinal telangiectasia HP:0000576 | Centrocecal scotoma HP:0003202 | Neurogenic muscle atrophy, especially in the lower limbs HP:0002650 | Scoliosis HP:0011675 | Arrhythmia HP:0000726 | Dementia HP:0001260 | Dysarthric speech HP:0000648 | Optic atrophy HP:0002015 | Swallowing difficulty HP:0012841 | Retinal vascular tortuosity HP:0000496 | Ocular movement abnormalities HP:0007924 | Slow decrease in visual acuity HP:0002151 | Increased serum lactate |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0000572 | Visual loss | 10 HP:0003287 | Abnormality of mitochondrial metabolism | 4 HP:0003447 | Axonal loss | 2 HP:0001300 | Parkinsonism | 1 HP:0010535 | Sleep apnea | 1 HP:0002180 | Neurodegeneration | 1 HP:0002104 | Absence of spontaneous respiration | 1 HP:0000501 | Glaucoma | 1 HP:0000648 | Optic-nerve degeneration | 1 HP:0010536 | Central sleep apnoea | 1 |
| Disease ID | 30 |
|---|---|
| Disease | leber hereditary optic neuropathy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:50) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs193302927 | NA | 4537 | ND3 | umls:C0917796 | CLINVAR | NA | 0.12 | NA | ND3 | MT | 10237 | T | C |
| rs193302933 | NA | 4539 | ND4L | umls:C0917796 | CLINVAR | NA | 0.240271442 | NA | ND4L | MT | 10663 | T | C |
| rs199476104 | NA | 4541 | ND6 | umls:C0917796 | CLINVAR | NA | 0.450553895 | NA | ND6 | MT | 14484 | T | C |
| rs199476105 | NA | 4541 | ND6 | umls:C0917796 | CLINVAR | NA | 0.450553895 | NA | ND6 | MT | 14459 | G | A |
| rs199476105 | NA | 4541 | ND6 | umls:C1839040 | CLINVAR | NA | 0.24 | NA | ND6 | MT | 14459 | G | A |
| rs199476106 | NA | 4541 | ND6 | umls:C0917796 | CLINVAR | NA | 0.450553895 | NA | ND6 | MT | 14495 | A | G |
| rs199476108 | NA | 4541 | ND6 | umls:C0917796 | CLINVAR | NA | 0.450553895 | NA | ND6 | MT | 14482 | C | A,G |
| rs199476112 | NA | 4538 | ND4 | umls:C0917796 | CLINVAR | NA | 0.375363904 | NA | ND4 | MT | 11778 | G | A |
| rs199476112 | 21414825 | 4538 | ND4 | umls:C0917796 | BeFree | Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON. | 0.375363904 | 2011 | ND4 | MT | 11778 | G | A |
| rs199476115 | NA | 4536 | ND2 | umls:C0917796 | CLINVAR | NA | 0.24 | NA | ND2 | MT | 5244 | G | A |
| rs199476118 | NA | 4535 | ND1 | umls:C0917796 | CLINVAR | NA | 0.368729747 | NA | ND1 | MT | 3460 | G | A |
| rs199476119 | NA | 4535 | ND1 | umls:C0917796 | CLINVAR | NA | 0.368729747 | NA | ND1 | MT | 4160 | T | C |
| rs199476121 | NA | 4535 | ND1 | umls:C0917796 | CLINVAR | NA | 0.368729747 | NA | ND1 | MT | 4136 | A | G |
| rs199476122 | NA | 4535 | ND1 | umls:C0917796 | CLINVAR | NA | 0.368729747 | NA | ND1 | MT | 3697 | G | A |
| rs199476122 | NA | 4535 | ND1 | umls:C1839040 | CLINVAR | NA | 0.12 | NA | ND1 | MT | 3697 | G | A |
| rs199476125 | NA | 4535 | ND1 | umls:C0917796 | CLINVAR | NA | 0.368729747 | NA | ND1 | MT | 3733 | G | A |
| rs199476134 | NA | 4508 | ATP6 | umls:C0917796 | CLINVAR | NA | 0.243181358 | NA | ATP6 | MT | 9101 | T | C |
| rs199795644 | NA | 4519 | CYTB | umls:C0917796 | CLINVAR | NA | 0.241085767 | NA | CYTB | MT | 14831 | G | A |
| rs199974018 | NA | 4540 | ND5 | umls:C0917796 | CLINVAR | NA | 0.242909916 | NA | ND5 | MT | 12811 | T | C |
| rs200145866 | NA | 4538 | ND4 | umls:C0917796 | CLINVAR | NA | 0.375363904 | NA | ND4 | MT | 11253 | T | C |
| rs200336777 | NA | 4519 | CYTB | umls:C0917796 | CLINVAR | NA | 0.241085767 | NA | CYTB | MT | 15812 | G | A |
| rs200613617 | NA | 4514 | COX3 | umls:C0917796 | CLINVAR | NA | 0.24 | NA | COX3 | MT | 9804 | G | A |
| rs200855215 | NA | 4540 | ND5 | umls:C0917796 | CLINVAR | NA | 0.242909916 | NA | ND5 | MT | 13637 | A | G |
| rs200873900 | NA | 4538 | ND4 | umls:C1839040 | CLINVAR | NA | 0.24 | NA | ND4 | MT | 11696 | G | A |
| rs200873900 | NA | 4538 | ND4 | umls:C0917796 | CLINVAR | NA | 0.375363904 | NA | ND4 | MT | 11696 | G | A |
| rs201336180 | 19026397 | 4540 | ND5 | umls:C0917796 | BeFree | Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a. | 0.242909916 | 2008 | ATP6 | MT | 8684 | C | T |
| rs201336180 | 19026397 | 4508 | ATP6 | umls:C0917796 | BeFree | Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a. | 0.243181358 | 2008 | ATP6 | MT | 8684 | C | T |
| rs201863060 | NA | 4540 | ND5 | umls:C0917796 | CLINVAR | NA | 0.242909916 | NA | ND5 | MT | 12338 | T | C |
| rs267606611 | NA | 4514 | COX3 | umls:C0917796 | CLINVAR | NA | 0.24 | NA | COX3 | MT | 9438 | G | A |
| rs267606891 | NA | 4537 | ND3 | umls:C1839040 | CLINVAR | NA | 0.12 | NA | ND3 | MT | 10197 | G | A |
| rs267606895 | NA | 4540 | ND5 | umls:C0917796 | CLINVAR | NA | 0.242909916 | NA | ND5 | MT | 13045 | A | C |
| rs267606899 | NA | 4540 | ND5 | umls:C0917796 | CLINVAR | NA | 0.242909916 | NA | ND5 | MT | 12848 | C | T |
| rs28357980 | NA | 4536 | ND2 | umls:C0917796 | CLINVAR | NA | 0.24 | NA | ND2 | MT | 4917 | A | G |
| rs28359178 | NA | 4540 | ND5 | umls:C0917796 | CLINVAR | NA | 0.242909916 | NA | ND5 | MT | 13708 | G | A |
| rs28359178 | 1732158 | 4540 | ND5 | umls:C0917796 | UNIPROT | The nucleotide pair (np) 13708 mutation (G to A, ND5 gene) changed an alanine to a threonine and was found in 6/25 (24%) of non-11778 LHON pedigrees and in 5.0% of controls, the np 15257 mutation (G to A, cytochrome b gene) changed an aspartate to an asparagine and was found in 4 of the 13708-positive pedigrees and 0.3% of controls, the np 15812 mutation (G to A, cytochrome b gene) changed a valine to a methionine and was detected in two of the 15257-positive pedigrees and 0.1% of controls and the np 5244 mutation (G to A, ND2 gene) changed a glycine to a serine and was found in one of the 15812-positive patients and none of 2103 controls. | 0.242909916 | 1992 | ND5 | MT | 13708 | G | A |
| rs28616230 | NA | 4535 | ND1 | umls:C0917796 | CLINVAR | NA | 0.368729747 | NA | ND1 | MT | 4171 | C | A,T |
| rs3135028 | 19026397 | 4540 | ND5 | umls:C0917796 | BeFree | Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a. | 0.242909916 | 2008 | ATP6 | MT | 8584 | G | A |
| rs3135028 | 19026397 | 4508 | ATP6 | umls:C0917796 | BeFree | Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a. | 0.243181358 | 2008 | ATP6 | MT | 8584 | G | A |
| rs387906424 | NA | 4541 | ND6 | umls:C1839040 | CLINVAR | NA | 0.24 | NA | ND6 | MT | 14596 | A | T |
| rs387906424 | NA | 4541 | ND6 | umls:C0917796 | CLINVAR | NA | 0.450553895 | NA | ND6 | MT | 14596 | A | T |
| rs387906425 | NA | 4540 | ND5 | umls:C0917796 | CLINVAR | NA | 0.242909916 | NA | ND5 | MT | 13730 | G | A |
| rs387906426 | NA | 4536 | ND2 | umls:C0917796 | CLINVAR | NA | 0.24 | NA | ND2 | MT | 4640 | C | A |
| rs397515505 | NA | 4541 | ND6 | umls:C0917796 | CLINVAR | NA | 0.450553895 | NA | ND6 | MT | 14325 | T | C |
| rs397515506 | NA | 4541 | ND6 | umls:C0917796 | CLINVAR | NA | 0.450553895 | NA | ND6 | MT | 14568 | C | T |
| rs397515507 | NA | 4535 | ND1 | umls:C0917796 | CLINVAR | NA | 0.368729747 | NA | ND1 | MT | 3635 | G | A |
| rs397515508 | NA | 4535 | ND1 | umls:C0917796 | CLINVAR | NA | 0.368729747 | NA | ND1 | MT | 3700 | G | A |
| rs397515509 | NA | 4535 | ND1 | umls:C0917796 | CLINVAR | NA | 0.368729747 | NA | ND1 | MT | 4025 | C | T |
| rs397515612 | NA | 4535 | ND1 | umls:C0917796 | CLINVAR | NA | 0.368729747 | NA | ND1 | MT | 3376 | G | A |
| rs41460449 | NA | 4535 | ND1 | umls:C0917796 | CLINVAR | NA | 0.368729747 | NA | ND1 | MT | 3394 | T | C |
| rs41518645 | NA | 4519 | CYTB | umls:C0917796 | CLINVAR | NA | 0.241085767 | NA | CYTB | MT | 15257 | 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:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012841 | Retinal vascular tortuosity | MP:0005595 | abnormal vascular smooth muscle physiology | any functional anomaly of the nonstriated, involuntary muscle tissue of the blood vessels |
| HP:0002151 | Increased serum lactate | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0007924 | Slow decrease in visual acuity | MP:0010748 | abnormal visual evoked potential | anomaly in the electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; may be used to evaluate optic nerve damage or visual perception |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0000622 | Blurred vision | MP:0002090 | abnormal vision | inability or decreased ability to see |
| 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: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:0001112 | Leber optic atrophy | MP:0001330 | abnormal optic nerve morphology | any structural anomaly of the second cranial nerve which is responsible for conveying visual information from the retina to the brain; it extends from the retina to the optic chiasma where part of its fibers become the optic tract and cross to the opposit |
| HP:0002490 | Increased CSF lactate | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0000572 | Visual loss | MP:0011352 | proximal convoluted tubule brush border loss | attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes |
Mapped by homologous gene(Total Items:27) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002174 | Postural tremor | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0007763 | Retinal telangiectasia | MP:0011704 | decreased fibroblast proliferation | reduction in the expansion rate of a fibroblast cell population by cell division |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000576 | Centrocecal scotoma | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001112 | Leber optic atrophy | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000622 | Blurred vision | 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:0007924 | Slow decrease in visual acuity | MP:0012671 | retinal spots | the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits |
| 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:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002305 | Athetosis | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| 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: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: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:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0012841 | Retinal vascular tortuosity | MP:0013174 | pharynx stenosis | abnormal narrowing or constriction of the passage between the mouth and the posterior nares and the larynx and esophagus |
| HP:0002490 | Increased CSF lactate | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| 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:0002151 | Increased serum lactate | 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:0000726 | Dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000572 | Visual loss | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| 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:0002067 | Bradykinesia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 30 |
|---|---|
| Disease | leber hereditary optic neuropathy |
| Case | (Waiting for update.) |