eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| autosomal dominant cerebellar ataxia | ||||
| Disease ID | 1840 |
|---|---|
| Disease | autosomal dominant cerebellar ataxia |
| Definition | Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an autosomal dominant manner. ADCA is a genetically inherited condition that causes deterioration of the nervous system leading to disorder and a decrease or loss of function to regions of the body.[1] - Wikipedia Reference: https://en.wikipedia.org/wiki/autosomal dominant cerebellar ataxia |
| Orphanet | |
| DOID | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:35) 773 | CACNA1A | UniProtKB-KW;UNIPROT 1200 | TPP1 | UniProtKB-KW 1938 | EEF2 | UniProtKB-KW 57231 | SNX14 | UniProtKB-KW 23345 | SYNE1 | UNIPROT 6311 | ATXN2 | UniProtKB-KW;UNIPROT 6785 | ELOVL4 | UniProtKB-KW 6310 | ATXN1 | UniProtKB-KW;UNIPROT 8913 | CACNA1G | UniProtKB-KW 57410 | SCYL1 | UniProtKB-KW 2259 | FGF14 | UNIPROT 146057 | TTBK2 | UniProtKB-KW 3475 | IFRD1 | UNIPROT 3752 | KCND3 | UniProtKB-KW 4311 | MME | UniProtKB-KW 7222 | TRPC3 | UniProtKB-KW 5521 | PPP2R2B | UniProtKB-KW;UNIPROT 60481 | ELOVL5 | UniProtKB-KW 6712 | SPTBN2 | UNIPROT 440193 | CCDC88C | UniProtKB-KW 51567 | TDP2 | UniProtKB-KW 747 | DAGLA | UniProtKB-KW 5582 | PRKCG | UniProtKB-KW;UNIPROT 146227 | BEAN1 | UniProtKB-KW 6314 | ATXN7 | UniProtKB-KW;UNIPROT 4287 | ATXN3 | GHR;UNIPROT;UniProtKB-KW 724066 | ATXN8 | UNIPROT 339453 | TMEM240 | UniProtKB-KW 10528 | NOP56 | UniProtKB-KW 3708 | ITPR1 | UniProtKB-KW 3748 | KCNC3 | UniProtKB-KW 1822 | ATN1 | GHR 343641 | TGM6 | UniProtKB-KW 6908 | TBP | UniProtKB-KW;UNIPROT 10939 | AFG3L2 | UniProtKB-KW |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:146) 9625 | AATK | 1.579 | DISEASES 2334 | AFF2 | 3.843 | DISEASES 3899 | AFF3 | 1.891 | DISEASES 8852 | AKAP4 | 1.125 | DISEASES 8125 | ANP32A | 3.575 | DISEASES 54840 | APTX | 1.95 | DISEASES 367 | AR | 3.575 | DISEASES 64283 | ARHGEF28 | 1.036 | DISEASES 9776 | ATG13 | 1.335 | DISEASES 1822 | ATN1 | 5.879 | DISEASES 342371 | ATXN1L | 4.852 | DISEASES 6311 | ATXN2 | 7.056 | DISEASES 11273 | ATXN2L | 3.631 | DISEASES 4287 | ATXN3 | 8.572 | DISEASES 92552 | ATXN3L | 2.593 | DISEASES 6314 | ATXN7 | 7.613 | DISEASES 552889 | ATXN7L3B | 2.751 | DISEASES 6315 | ATXN8OS | 5.17 | DISEASES 9532 | BAG2 | 2.159 | DISEASES 9531 | BAG3 | 1.244 | DISEASES 9529 | BAG5 | 1.449 | DISEASES 617 | BCS1L | 2.106 | DISEASES 146227 | BEAN1 | 1.128 | DISEASES 8678 | BECN1 | 2.063 | DISEASES 203228 | C9orf72 | 2.566 | DISEASES 773 | CACNA1A | 7.432 | DISEASES 840 | CASP7 | 1.208 | DISEASES 9738 | CCP110 | 1.674 | DISEASES 1052 | CEBPD | 1.121 | DISEASES 79598 | CEP97 | 2.397 | DISEASES 1122 | CHML | 1.303 | DISEASES 9685 | CLINT1 | 1.316 | DISEASES 152330 | CNTN4 | 1.045 | DISEASES 1385 | CREB1 | 2.123 | DISEASES 1641 | DCX | 1.586 | DISEASES 28514 | DLL1 | 3.044 | DISEASES 1743 | DLST | 1.605 | DISEASES 1760 | DMPK | 1.743 | DISEASES 3301 | DNAJA1 | 3.247 | DISEASES 9829 | DNAJC6 | 1.119 | DISEASES 7266 | DNAJC7 | 2.278 | DISEASES 1786 | DNMT1 | 2.707 | DISEASES 8894 | EIF2S2 | 1.978 | DISEASES 8672 | EIF4G3 | 2.275 | DISEASES 56943 | ENY2 | 1.665 | DISEASES 2259 | FGF14 | 4.816 | DISEASES 2332 | FMR1 | 3.023 | DISEASES 2512 | FTL | 1.854 | DISEASES 2395 | FXN | 3.459 | DISEASES 27069 | GHITM | 1.232 | DISEASES 57165 | GJC2 | 2.142 | DISEASES 2987 | GUK1 | 1.087 | DISEASES 9001 | HAP1 | 1.071 | DISEASES 26275 | HIBCH | 1.63 | DISEASES 3190 | HNRNPK | 1.957 | DISEASES 9454 | HOMER3 | 2.526 | DISEASES 3303 | HSPA1A | 1.207 | DISEASES 3309 | HSPA5 | 1.788 | DISEASES 3316 | HSPB2 | 1.491 | DISEASES 3064 | HTT | 4.508 | DISEASES 3632 | INPP5A | 2.123 | DISEASES 126119 | JOSD2 | 2.861 | DISEASES 10524 | KAT5 | 1.351 | DISEASES 3736 | KCNA1 | 2.162 | DISEASES 3747 | KCNC2 | 1.801 | DISEASES 3748 | KCNC3 | 5.604 | DISEASES 3749 | KCNC4 | 1.392 | DISEASES 30819 | KCNIP2 | 1.013 | DISEASES 22944 | KIN | 1.166 | DISEASES 57626 | KLHL1 | 4.176 | DISEASES 9223 | MAGI1 | 2.079 | DISEASES 9863 | MAGI2 | 1.039 | DISEASES 399664 | MEX3D | 1.914 | DISEASES 83876 | MRO | 1.184 | DISEASES 4566 | MT-TK | 2.057 | DISEASES 4077 | NBR1 | 1.233 | DISEASES 4734 | NEDD4 | 2.233 | DISEASES 51701 | NLK | 1.208 | DISEASES 55505 | NOP10 | 1.236 | DISEASES 10528 | NOP56 | 4.033 | DISEASES 56654 | NPDC1 | 2.219 | DISEASES 7101 | NR2E1 | 1.454 | DISEASES 4901 | NRL | 1.297 | DISEASES 5956 | OPN1LW | 1.246 | DISEASES 53829 | P2RY13 | 1.266 | DISEASES 5071 | PARK2 | 2.852 | DISEASES 11315 | PARK7 | 2.142 | DISEASES 54625 | PARP14 | 1.355 | DISEASES 5121 | PCP4 | 1.108 | DISEASES 26227 | PHGDH | 1.302 | DISEASES 9463 | PICK1 | 1.044 | DISEASES 65018 | PINK1 | 1.531 | DISEASES 25894 | PLEKHG4 | 6.135 | DISEASES 11284 | PNKP | 2.182 | DISEASES 11128 | POLR3A | 1.582 | DISEASES 5521 | PPP2R2B | 6.439 | DISEASES 5621 | PRNP | 2.028 | DISEASES 9698 | PUM1 | 1.447 | DISEASES 5886 | RAD23A | 3.308 | DISEASES 5887 | RAD23B | 2.037 | DISEASES 8480 | RAE1 | 1.944 | DISEASES 23543 | RBFOX2 | 1.15 | DISEASES 146713 | RBFOX3 | 3.045 | DISEASES 84991 | RBM17 | 3.338 | DISEASES 473 | RERE | 3.063 | DISEASES 9045 | RPL14 | 1.621 | DISEASES 6141 | RPL18 | 2.298 | DISEASES 6204 | RPS10 | 1.571 | DISEASES 6222 | RPS18 | 1.118 | DISEASES 6188 | RPS3 | 1.254 | DISEASES 26278 | SACS | 2.191 | DISEASES 51128 | SAR1B | 1.065 | DISEASES 100861563 | SCAANT1 | 2.614 | DISEASES 286205 | SCAI | 1.106 | DISEASES 12 | SERPINA3 | 1.571 | DISEASES 7536 | SF1 | 1.445 | DISEASES 10019 | SH2B3 | 1.253 | DISEASES 6456 | SH3GL2 | 2.255 | DISEASES 6457 | SH3GL3 | 1.864 | DISEASES 30011 | SH3KBP1 | 1.238 | DISEASES 9892 | SNAP91 | 1.353 | DISEASES 6622 | SNCA | 2.061 | DISEASES 51429 | SNX9 | 1.08 | DISEASES 6683 | SPAST | 1.595 | DISEASES 6709 | SPTAN1 | 1.289 | DISEASES 8878 | SQSTM1 | 1.12 | DISEASES 6789 | STK4 | 1.128 | DISEASES 7341 | SUMO1 | 2.838 | DISEASES 8867 | SYNJ1 | 1.106 | DISEASES 6949 | TCOF1 | 1.408 | DISEASES 55714 | TENM3 | 1.154 | DISEASES 7084 | TK2 | 3.857 | DISEASES 84548 | TMEM185A | 2.653 | DISEASES 339453 | TMEM240 | 4.234 | DISEASES 54802 | TRIT1 | 1.346 | DISEASES 7222 | TRPC3 | 1.95 | DISEASES 8295 | TRRAP | 2.06 | DISEASES 7311 | UBA52 | 1.686 | DISEASES 10537 | UBD | 1.609 | DISEASES 10277 | UBE4B | 2.716 | DISEASES 29978 | UBQLN2 | 1.575 | DISEASES 56893 | UBQLN4 | 2.363 | DISEASES 7415 | VCP | 3.03 | DISEASES 23230 | VPS13A | 1.579 | DISEASES 11060 | WWP2 | 1.151 | DISEASES 286451 | YIPF6 | 1.882 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1840 |
|---|---|
| Disease | autosomal dominant cerebellar ataxia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0000639 | Nystagmus HP:0001257 | Spasticity HP:0000708 | Behavioral abnormality HP:0003693 | Distal amyotrophy HP:0005978 | Type II diabetes mellitus HP:0001251 | Ataxia HP:0001288 | Gait disturbance HP:0002097 | Emphysema HP:0000544 | External ophthalmoplegia HP:0001605 | Vocal cord paralysis HP:0001272 | Cerebellar atrophy HP:0012074 | Tonic pupil HP:0100022 | Abnormality of movement HP:0007328 | Impaired pain sensation HP:0000648 | Optic atrophy HP:0001315 | Reduced tendon reflexes HP:0007703 | Abnormality of retinal pigmentation HP:0001260 | Dysarthria |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1840 |
|---|---|
| Disease | autosomal dominant cerebellar ataxia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| 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: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:0001605 | Vocal cord paralysis | MP:0000756 | forelimb paralysis | loss of power of voluntary movement in muscles of the forelimb through injury or disease of it or its nerve supply |
| HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| HP:0007328 | Impaired pain sensation | MP:0001970 | abnormal pain threshold | increased or decreased average level of perception of pain |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0005978 | Type II diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
Mapped by homologous gene(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002097 | Emphysema | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000544 | External ophthalmoplegia | 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:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0007328 | Impaired pain sensation | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0005978 | Type II diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001605 | Vocal cord paralysis | 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: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:0012074 | Tonic pupil | MP:0010760 | abnormal macrophage chemotaxis | anomaly in the accumulation of macrophages in a specific location in response to a wide variety of substances released at the sites of inflammatory reactions |
| 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:0001315 | Reduced tendon reflexes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003693 | Distal amyotrophy | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| Disease ID | 1840 |
|---|---|
| Disease | autosomal dominant cerebellar ataxia |
| Case | (Waiting for update.) |