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Congenital microvillous atrophy(DIAR2)

MedGen UID:
137954
•Concept ID:
C0341306
•
Disease or Syndrome
Synonyms: Congenital familial protracted diarrhea; Congenital familial protracted diarrhea with enterocyte brush-border abnormalities; Davidson disease; Davidson's disease; DIAR2; DIARRHEA 2, WITH MICROVILLUS ATROPHY, WITH OR WITHOUT CHOLESTASIS; Diarrhea with Microvillus Atrophy 2; Familial enteropathy, microvillus; Microvillus atrophy, congenital; Microvillus inclusion disease
SNOMED CT: Congenital microvillous atrophy (235729009); Davidson disease (235729009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): MYO5B (18q21.1)
 
Monarch Initiative: MONDO:0009635
OMIM®: 251850
Orphanet: ORPHA2290

Definition

Diarrhea-2 with microvillus atrophy, with or without cholestasis (DIAR2) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease (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. For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). [from OMIM]

Additional description

From MedlinePlus Genetics
Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea.

Microvillus inclusion disease prevents the absorption of nutrients from food during digestion, resulting in malnutrition and dehydration. Affected infants often have difficulty gaining weight and growing at the expected rate (failure to thrive), developmental delay, liver and kidney problems, and thinning of the bones (osteoporosis). Some affected individuals develop cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis).

In individuals with microvillus inclusion disease, lifelong nutritional support is needed and given through intravenous feedings (parenteral nutrition).

A variant of microvillus inclusion disease with milder diarrhea often does not require full-time parenteral nutrition. Individuals with the variant type frequently live past childhood.  https://medlineplus.gov/genetics/condition/microvillus-inclusion-disease

Clinical features

From HPO
Growth delay
MedGen UID:
99124
•Concept ID:
C0456070
•
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
See: Feature record | Search on this feature
Malnutrition
MedGen UID:
56429
•Concept ID:
C0162429
•
Disease or Syndrome
A deficiency in the intake of energy and nutrients.
See: Feature record | Search on this feature
Protracted diarrhea
MedGen UID:
141631
•Concept ID:
C0473133
•
Disease or Syndrome
See: Feature record | Search on this feature
Villous atrophy
MedGen UID:
154306
•Concept ID:
C0554101
•
Finding
The enteric villi are atrophic or absent.
See: Feature record | Search on this feature
Abnormal intestine morphology
MedGen UID:
1388201
•Concept ID:
C4316788
•
Finding
An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.
See: Feature record | Search on this feature
Dehydration
MedGen UID:
8273
•Concept ID:
C0011175
•
Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital microvillous atrophy
Follow this link to review classifications for Congenital microvillous atrophy in Orphanet.

Recent clinical studies

Diagnosis

Neonatal congenital microvillus atrophy.
Pecache N, Patole S, Hagan R, Hill D, Charles A, Papadimitriou JM
Postgrad Med J 2004 Feb;80(940):80-3. doi: 10.1136/pmj.2003.007930. PMID: 14970294Free PMC Article
Immunoreactive epidermal growth factor receptors are present in gastrointestinal epithelial cells of preterm infants with necrotising enterocolitis.
Fagbemi AO, Wright N, Lakhoo K, Edwards AD
Early Hum Dev 2001 Oct;65(1):1-9. doi: 10.1016/s0378-3782(01)00164-5. PMID: 11520624
Hypophosphatemic rickets accompanying congenital microvillous atrophy.
Kagitani K, Yamamoto T, Miki K, Matsumoto S, Shima M, Tajiri H, Harada T, Okada S
J Bone Miner Res 1998 Dec;13(12):1946-52. doi: 10.1359/jbmr.1998.13.12.1946. PMID: 9844114
Intractable diarrhoea in infancy in the 1990s: a survey in Italy.
Ventura A, Dragovich D
Eur J Pediatr 1995 Jul;154(7):522-5. doi: 10.1007/BF02074826. PMID: 7556315
Congenital microvillous atrophy: specific diagnostic features.
Phillips AD, Jenkins P, Raafat F, Walker-Smith JA
Arch Dis Child 1985 Feb;60(2):135-40. doi: 10.1136/adc.60.2.135. PMID: 3977385Free PMC Article

Therapy

Complications during home parenteral nutrition in children affected by congenital microvillous atrophy.
Gambarara M, Ferretti F, Papadatou B, Diamanti A, Lucidi V, Bella S, Rosati P, Castro M
Transplant Proc 1997 May;29(3):1870-1. doi: 10.1016/s0041-1345(97)00104-8. PMID: 9142308

Prognosis

Neonatal congenital microvillus atrophy.
Pecache N, Patole S, Hagan R, Hill D, Charles A, Papadimitriou JM
Postgrad Med J 2004 Feb;80(940):80-3. doi: 10.1136/pmj.2003.007930. PMID: 14970294Free PMC Article
Complications during home parenteral nutrition in children affected by congenital microvillous atrophy.
Gambarara M, Ferretti F, Papadatou B, Diamanti A, Lucidi V, Bella S, Rosati P, Castro M
Transplant Proc 1997 May;29(3):1870-1. doi: 10.1016/s0041-1345(97)00104-8. PMID: 9142308
Intractable diarrhoea in infancy in the 1990s: a survey in Italy.
Ventura A, Dragovich D
Eur J Pediatr 1995 Jul;154(7):522-5. doi: 10.1007/BF02074826. PMID: 7556315
Congenital microvillous atrophy: specific diagnostic features.
Phillips AD, Jenkins P, Raafat F, Walker-Smith JA
Arch Dis Child 1985 Feb;60(2):135-40. doi: 10.1136/adc.60.2.135. PMID: 3977385Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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