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Enteropathy, familial, with villous edema and immunoglobulin G2 deficiency

MedGen UID:
324980
Concept ID:
C1838238
Disease or Syndrome
Synonym: Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency
 
Monarch Initiative: MONDO:0010874
OMIM®: 600351

Clinical features

From HPO
Shock
MedGen UID:
20738
Concept ID:
C0036974
Pathologic Function
The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.
Abnormality of the cardiovascular system
MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
Any abnormality of the cardiovascular system.
Anorexia
MedGen UID:
315
Concept ID:
C0003123
Disease or Syndrome
A lack or loss of appetite for food (as a medical condition).
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Secretory diarrhea
MedGen UID:
75635
Concept ID:
C0267557
Disease or Syndrome
Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.
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.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
Decreased circulating IgG level
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Hypoalbuminemia
MedGen UID:
68694
Concept ID:
C0239981
Finding
Reduction in the concentration of albumin in the blood.
Hypoproteinemia
MedGen UID:
581229
Concept ID:
C0392692
Finding
A decreased concentration of protein in the blood.

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