Cryptogenic multifocal ulcerous stenosing enteritis
Synonyms: CMUSE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cryptogenic multifocal ulcerous stenosing enteritis | CMUSE |
| fr | Entérite sténosante ulcéreuse multifocale cryptogénétique | CMUSE · Entérite sténosante ulcéreuse plurifocale cryptogénétique |
| de | Kryptogene multifokale ulzeröse stenosierende Enteritis | = en |
| es | Enteritis ulcerativa estenosante multifocal criptogénica | CMUSE · Enteritis estenosante ulcerosa multifocal criptogénica |
| it | Enterite stenosante ulcerosa multifocale criptogenica | |
| nl | Cryptogene multifocale ulcereuze stenoserende enteritis | = en |
| pt | Enterite ulcerativa estenosante multifocal criptogénica | |
| pl | Kryptogenne wieloogniskowe wrzodziejące zwężające zapalenie jelit | = en |
| cs | Kryptogenní multifokální ulcerózní stenozující enteritida | = en |
| uk | Криптогенний мультифокальний виразковий стенозуючий ентерит | = en |
| zh | 隐源性多灶性溃疡性狭窄性肠炎 | = en |
| tr | Kriptojenik multifokal ülseröz stenoz enterit | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K63.3 | NTBT | attributed | validated |
| ICD-11 | DA94.02 | E | specific | validated |
| MONDO | 0018765 | E | validated | |
| UMLS | C4302263 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:165655Genetic intestinal disease
rare genetic diseases - ORPHA:506216Rare disorder potentially indicated for bowel transplant
rare transplant-related disorders - ORPHA:117569Rare intestinal disease
rare gastroenterological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLA2G4A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9035 | ENSG00000116711 | 600522 | 1q31.1 | phospholipase A2 group IVA | 23268370[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 24369459[PMID]_25708899[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24369459[PMID]_25708899[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/468635
- This record as JSON: /data/d/468635.json