ORPHA:2290
Microvillus inclusion disease
Synonyms: Congenital microvillous atrophy · Congenital microvillus atrophy · MVID · Microvillous inclusion disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microvillus inclusion disease | Congenital microvillous atrophy · Congenital microvillus atrophy · MVID · Microvillous inclusion disease |
| fr | Maladie des inclusions microvillositaires | Atrophie microvillositaire congénitale · Diarrhée chronique congénitale avec anomalies familiales des microvillosités entérocytaires · MVID |
| de | Mikrovillöse Einschluss-Krankheit | MVID · Mikrovillus-Atrophie, kongenitale · Mikrovillus-Einschlusserkrankung · Mikrovilluseinschlusskörperchenerkrankung |
| es | Enfermedad de inclusión microvellosa | Atrofia de microvellosidades congénita · Atrofia microvellosa congénita · Enfermedad de inclusión de microvellosidades · MVID |
| it | Malattia da inclusioni microvillari | Atrofia microvillare congenita · MVID |
| nl | Microvillusinclusieziekte | Congenitale microvilleuze atrofie · Congenitale microvillusatrofie · MVID · Microvilleuze inclusieziekte |
| pt | Doença de inclusões nas microvilosidades | Atrofia congénita das microvilosidades |
| pl | Choroba wtrętowa mikrokosmków | MVID · Wrodzona atrofia mikrokosmków |
| cs | Nemoc inkluze mikrovilů | Vrozená mikrovilózní atrofie · MVID · Nemoc mikrovilózní inkluze · Vrozená atrofie mikrovilů |
| uk | Хвороба включення мікроворсинок | Вроджена мікроворсинчаста атрофія · Вроджена атрофія мікроворсинок · Хвороба мікроворсинчастого включення · MVID |
| zh | 微绒毛包涵体病 | 微绒毛包涵体病 |
| tr | Mikrovillus inklüzyon hastalığı | MVID · Doğumsal mikrovillus atrofisi · Mikrovillous inklüzyon hastalığı · Doğumsal mikrovillöz atrofi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251850 | BTNT | validated | |
| OMIM | 619445 | BTNT | validated | |
| OMIM | 619446 | BTNT | validated | |
| ICD-10 | P78.3 | NTBT | attributed | validated |
| ICD-11 | DA90.Y | NTBT | index | validated |
| MONDO | 0009635 | E | validated | |
| MeSH | C537470 | E | validated | |
| UMLS | C0341306 | E | validated | |
| GARD | 7039 | E | validated | |
| MedDRA | 10068494 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:104007Congenital enteropathy involving intestinal mucosa development
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:363300Genetic intractable diarrhea of infancy
rare genetic diseases - ORPHA:73014Intractable diarrhea of infancy
rare gastroenterological diseases; rare transplant-related disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYO5B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7603 | ENSG00000167306 | 606540 | 18q21.1 | myosin VB | 20186687[PMID] |
| STX3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11438 | ENSG00000166900 | 600876 | 11q12.1 | syntaxin 3 | 24726755[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | 16800870[PMID] |
| Cases/families | 137 cases | Worldwide | Case(s) | Validated | 24014347[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24014347[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.
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HPO phenotypes
11 annotations · validated 2017-11-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0012211 | Abnormal renal physiology | |
| HP:0011472 | Abnormality of small intestinal villus morphology | |
| HP:0001944 | Dehydration | |
| HP:0002014 | Diarrhea | |
| HP:0001263 | Global developmental delay | |
| HP:0011106 | Hypovolemia | |
| HP:0001942 | Metabolic acidosis | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000989 | Pruritus | |
| HP:0011473 | Villous atrophy | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2290
- This record as JSON: /data/d/2290.json