Chronic diarrhea with villous atrophy
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy
- Status
- active
Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic diarrhea with villous atrophy | |
| fr | Syndrome de diarrhée chronique-atrophie villositaire | |
| de | Diarrhoe, chronische mit Zottenatrophie | |
| es | Diarrea crónica con atrofia villositaria | |
| it | Diarrea cronica con atrofia dei villi | |
| nl | Chronische diarree met villusatrofie | |
| pt | Diarreia crónica com atrofia das vilosidades | |
| pl | Przewlekła biegunka z atrofią kosmków | |
| cs | Chronická diarea s vilózní atrofií | |
| uk | Хронічна діарея з атрофією ворсинок | |
| zh | 慢性腹泻伴绒毛萎缩 | |
| tr | Villöz atrofi ile kronik diyare |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 520100 | E | validated | |
| ICD-10 | K52.8 | NTBT | attributed | validated |
| ICD-11 | DA90.Y | NTBT | index | validated |
| MONDO | 0010786 | E | validated | |
| MeSH | C564019 | E | validated | |
| UMLS | C1838912 | 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:363300Genetic intractable diarrhea of infancy
rare genetic diseases - ORPHA:73014Intractable diarrhea of infancy
rare gastroenterological diseases; rare transplant-related disorders - ORPHA:254767Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 8283377[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8283377[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/1670
- This record as JSON: /data/d/1670.json