ORPHA:104077
Myopathic intestinal pseudoobstruction
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Unknown
- Status
- active
This disease is described under Chronic intestinal pseudoobstruction
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myopathic intestinal pseudoobstruction | |
| fr | Pseudo-obstruction intestinale myopathique | |
| de | Pseudoobstruktion, intestinale myopathische | |
| es | Pseudoobstrucción intestinal miopática | |
| it | Pseudo-ostruzione intestinale miopatica | |
| nl | Myopathische intestinale pseudo-obstructie | |
| pt | Pseudo-obstrucção intestinal, miopática | |
| pl | Miopatyczna rzekoma niedrożność jelit | |
| cs | Myopatická intestinální pseudoobstrukce | |
| uk | Міопатична псевдообструкція кишечника | |
| zh | 肌病性假性肠梗阻 | |
| tr | Miyopatik bağırsak yalancı tıkanıklığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K59.8 | NTBT | attributed | validated |
| ICD-11 | DA90.2 | NTBT | index | validated |
| MONDO | 0015191 | E | validated | |
| UMLS | C5681739 | E | validated | |
| GARD | 19853 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2978Chronic intestinal pseudoobstruction syndrome
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACTG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:145 | ENSG00000163017 | 102545 | 2p13.1 | actin gamma 2, smooth muscle | 24591628[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/104077
- This record as JSON: /data/d/104077.json