raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
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
LangNameSynonyms
enMyopathic intestinal pseudoobstruction
frPseudo-obstruction intestinale myopathique
dePseudoobstruktion, intestinale myopathische
esPseudoobstrucción intestinal miopática
itPseudo-ostruzione intestinale miopatica
nlMyopathische intestinale pseudo-obstructie
ptPseudo-obstrucção intestinal, miopática
plMiopatyczna rzekoma niedrożność jelit
csMyopatická intestinální pseudoobstrukce
ukМіопатична псевдообструкція кишечника
zh肌病性假性肠梗阻
trMiyopatik bağırsak yalancı tıkanıklığı
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10K59.8NTBTattributedvalidated
ICD-11DA90.2NTBTindexvalidated
MONDO0015191Evalidated
UMLSC5681739Evalidated
GARD19853Evalidated

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):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
ACTG2Disease-causing germline mutation(s) inAssessedHGNC:145ENSG000001630171025452p13.1actin gamma 2, smooth muscle24591628[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card