Diarrhea 2, with microvillus atrophy, with or without cholestasis

Preferred Label : Diarrhea 2, with microvillus atrophy, with or without cholestasis;

Symbol : DIAR2;

CISMeF acronym : DIAR2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Congenital familial protracted diarrhea with enterocyte brush-border abnormalities; MVID1; Microvillus atrophy, congenital; Microvillus inclusion disease 1; Davidson disease; Diarrhea 2, with microvillus atrophy;

Description : Microvillus inclusion disease (MVID) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset MVID with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. Definite diagnosis is made by transmission electron microscopy demonstrating shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature enterocytes and peripheral accumulation of periodic acid-Schiff (PAS)-positive granules or vesicles in immature enterocytes (Muller et al., 2008). The natural course of MVID is often fatal, but partial or total weaning from parenteral nutrition has been described.;

Inheritance : Autosomal recessive;

Prefixed ID : #251850;

Details

Origin ID

251850;

UMLS CUI

C0341306;

Automatic exact mappings (from CISMeF team)
- Intractable diarrhea of infancy [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital microvillous atrophy (disorder) [SNOMED CT concept]
- Microvillous atrophy [MedDRA LLT]
- Microvillous inclusion disease [MedDRA Preferred Term]
- Microvillus inclusion disease [MeSH concept]
- Microvillus inclusion disease [ORDO Disease]
- microvillus inclusion disease [DO Concept]
- microvillus inclusion disease [MeSH Supplementary Concept]
DO Cross reference
- microvillus inclusion disease [DO Concept]
Genes related to phenotype
- Myosin vb [OMIM gene]
HPO term(s)
- Abnormal intestine morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Death in infancy [HPO term]
- Dehydration [HPO term]
- Enteropathy [HPO term]
- Growth delay [HPO term]
- Malnutrition [HPO term]
- Protracted diarrhea [HPO term]
- Villous atrophy [HPO term]
ORDO concept(s)
- Microvillus inclusion disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital microvillous atrophy (disorder) [SNOMED CT concept]
- Microvillous atrophy [MedDRA LLT]
- Microvillous inclusion disease [MedDRA Preferred Term]
- Microvillus inclusion disease [MeSH concept]
- Microvillus inclusion disease [ORDO Disease]
- microvillus inclusion disease [MeSH Supplementary Concept]
- microvillus inclusion disease [DO Concept]

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