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Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome

MedGen UID:
349095
Concept ID:
C1859104
Disease or Syndrome
Synonym: Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
 
Monarch Initiative: MONDO:0008976
OMIM®: 215250

Clinical features

From HPO
Nephrotic syndrome
MedGen UID:
10308
Concept ID:
C0027726
Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Mucopolysacchariduria
MedGen UID:
870284
Concept ID:
C4024726
Finding
Excessive amounts of mucopolysaccharide in the urine.
Cor pulmonale
MedGen UID:
18765
Concept ID:
C0034072
Disease or Syndrome
Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Macronodular cirrhosis
MedGen UID:
384466
Concept ID:
C2004456
Disease or Syndrome
A type of cirrhosis characterized by the presence of large regenerative nodules.
Generalized bone demineralization
MedGen UID:
371539
Concept ID:
C1833326
Finding
A generalized decrease in bone mineral density.
Abnormality of the respiratory system
MedGen UID:
866322
Concept ID:
C4018871
Anatomical Abnormality
An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
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.
Decreased circulating IgA level
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Abnormal T cell morphology
MedGen UID:
343416
Concept ID:
C1855752
Finding
An abnormality of T cells.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.

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