eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| perry syndrome | ||||
| Disease ID | 1211 |
|---|---|
| Disease | perry syndrome |
| Synonym | parkinsonism with alveolar hypoventilation and mental depression perry syndrome (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1868594 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:10) 203228 | C9orf72 | 1.859 | DISEASES 841 | CASP8 | 1.078 | DISEASES 1639 | DCTN1 | 7.157 | DISEASES 4094 | MAF | 2.123 | DISEASES 4137 | MAPT | 1.049 | DISEASES 594857 | NPS | 1.186 | DISEASES 6622 | SNCA | 1.068 | DISEASES 6863 | TAC1 | 1.183 | DISEASES 7054 | TH | 2.419 | DISEASES 9804 | TOMM20 | 3.517 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) DCTN1 | 2p13.1 |
| Disease ID | 1211 |
|---|---|
| Disease | perry syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0002071 | Abnormality of extrapyramidal motor function HP:0001337 | Tremor HP:0000741 | Apathy HP:0002615 | Hypotension HP:0000716 | Depression HP:0000726 | Dementia HP:0001824 | Weight loss HP:0001300 | Parkinsonism HP:0007110 | Central hypoventilation HP:0002360 | Sleep disturbance HP:0000751 | Personality changes |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1211 |
|---|---|
| Disease | perry syndrome |
| 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs67586389 | NA | 1639 | DCTN1 | umls:C1868594 | CLINVAR | NA | 0.482171535 | NA | DCTN1 | 2 | 74378067 | C | T,G |
| rs72466485 | 20437543 | 1639 | DCTN1 | umls:C1868594 | BeFree | Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. | 0.482171535 | 2010 | DCTN1 | 2 | 74378068 | C | T |
| rs72466485 | NA | 1639 | DCTN1 | umls:C1868594 | CLINVAR | NA | 0.482171535 | NA | DCTN1 | 2 | 74378068 | C | T |
| rs72466486 | NA | 1639 | DCTN1 | umls:C1868594 | CLINVAR | NA | 0.482171535 | NA | DCTN1 | 2 | 74378065 | T | G |
| rs72466487 | NA | 1639 | DCTN1 | umls:C1868594 | CLINVAR | NA | 0.482171535 | NA | DCTN1 | 2 | 74378058 | T | 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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 |
| HP:0007110 | Central hypoventilation | MP:0002321 | hypoventilation | a state in which there is a reduced amount of air entering the pulmonary alveoli (decreased alveolar ventilation), which causes an increase in arterial carbon dioxide level |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000726 | Dementia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001337 | Tremor | 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:0000741 | Apathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007110 | Central hypoventilation | MP:0013795 | abnormal colon goblet cell morphology | any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the colon, whose primary function is to secrete gel-forming mucins, the major components of mucus |
| 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:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000751 | Personality changes | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1211 |
|---|---|
| Disease | perry syndrome |
| Case | (Waiting for update.) |