Dalmatian hypouricemia- MedGen UID:
- 141632
- •Concept ID:
- C0473219
- •
- Disease or Syndrome
Renal hypouricemia is characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells. The syndrome is not lethal and may be asymptomatic. However, it is accompanied by nephrolithiasis and exercise-induced acute renal failure in about 10% of patients (Ichida et al., 2008).
Genetic Heterogeneity of Renal Hypouricemia
See also RHUC2 (612076), which is caused by mutation in the SLC2A9 gene (606142).
Renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies- MedGen UID:
- 370587
- •Concept ID:
- C1969055
- •
- Disease or Syndrome
Nephrotic syndrome, type 24- MedGen UID:
- 1781068
- •Concept ID:
- C5543267
- •
- Disease or Syndrome
Nephrotic syndrome type 24 (NPHS24) is an autosomal recessive renal disorder characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. Additional features include edema and hyperlipidemia. The disorder is slowly progressive, and most patients eventually develop end-stage renal disease. Renal biopsy shows focal segmental glomerulosclerosis (FSGS) (summary by Schneider et al., 2020).
For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300).
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2- MedGen UID:
- 1788773
- •Concept ID:
- C5543476
- •
- Disease or Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome-2 (MMIHS2) is characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure (summary by Wang et al., 2019).
For a discussion of genetic heterogeneity of MMIHS, see 249210.