| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (5.0%) |
28620721 |
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns. Casey JP, Hirouchi T, Hisatsune C, Lynch B, Murphy R, Dunne AM, Miyamoto A, Ennis S, van der Spek N, O'Hici B, Mikoshiba K, Lynch SA. J Neurol. 2017;264(7):1444-1453. |
| Ataxia | ||
| ITPR1 | ||
| c|SUB|C|106|T p|SUB|R|36|C rs141464488 rs797044955 | ||
| Calcium Signaling Family Females Homo sapiens Male Missense Mutation Spinocerebellar Degeneration |
Total: 20
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000750 | Delayed speech and language development | Very frequent (99-80%) |
| HP:0001260 | Dysarthria | Very frequent (99-80%) |
| HP:0001310 | Dysmetria | Very frequent (99-80%) |
| HP:0002066 | Gait ataxia | Very frequent (99-80%) |
| HP:0002080 | Intention tremor | Very frequent (99-80%) |
| HP:0002194 | Delayed gross motor development | Very frequent (99-80%) |
| HP:0010862 | Delayed fine motor development | Very frequent (99-80%) |
| HP:0000570 | Abnormal saccadic eye movements | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0000657 | Oculomotor apraxia | Frequent (79-30%) |
| HP:0001270 | Motor delay | Frequent (79-30%) |
| HP:0001272 | Cerebellar atrophy | Frequent (79-30%) |
| HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
| HP:0002075 | Dysdiadochokinesis | Frequent (79-30%) |
| HP:0006855 | Cerebellar vermis atrophy | Frequent (79-30%) |
| HP:0012434 | Delayed social development | Frequent (79-30%) |
| HP:0100543 | Cognitive impairment | Frequent (79-30%) |
| HP:0001251 | Ataxia | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0025405 | Visual fixation instability | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|