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Hyperzincemia with functional zinc depletion

MedGen UID:
356415
Concept ID:
C1865986
Disease or Syndrome
Synonym: Hyperzincemia with Functional Zinc Depletion
 
Monarch Initiative: MONDO:0011174
OMIM®: 601979

Clinical features

From HPO
Vasculitis
MedGen UID:
12054
Concept ID:
C0042384
Disease or Syndrome
Inflammation of blood vessel.
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.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Skin rash
MedGen UID:
1830322
Concept ID:
C5779628
Sign or Symptom
A red eruption of the skin.
Increased serum zinc
MedGen UID:
892436
Concept ID:
C0856208
Finding
An increased consentration of zinc in the blood.

Recent clinical studies

Diagnosis

Xu XM, Huang H, Ding F, Yang Z, Wang J, Jin YL
Am J Med Genet A 2021 Oct;185(10):3074-3082. Epub 2021 May 28 doi: 10.1002/ajmg.a.62367. PMID: 34047005
Hashmi SK, Bergstrom K, Bertuch AA, Despotovic JM, Muscal E, Xia F, Bi W, Marcogliese A, Diaz R
Pediatr Blood Cancer 2019 Jan;66(1):e27439. Epub 2018 Sep 10 doi: 10.1002/pbc.27439. PMID: 30198636

Prognosis

Hashmi SK, Bergstrom K, Bertuch AA, Despotovic JM, Muscal E, Xia F, Bi W, Marcogliese A, Diaz R
Pediatr Blood Cancer 2019 Jan;66(1):e27439. Epub 2018 Sep 10 doi: 10.1002/pbc.27439. PMID: 30198636

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