Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome- MedGen UID:
- 1621949
- •Concept ID:
- C4539828
- •
- Disease or Syndrome
Birk-Landau-Perez syndrome (BILAPES) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay apparent from infancy or early childhood. Some patients have developmental regression with loss of speech and motor skills, whereas other patients never achieve these milestones. More variable features may include hypotonia, poor overall growth, ataxia, dystonia, abnormal eye movements, and renal insufficiency (Perez et al., 2017; Kleyner et al., 2022).
Familial juvenile hyperuricemic nephropathy type 1- MedGen UID:
- 1645893
- •Concept ID:
- C4551496
- •
- Disease or Syndrome
Autosomal dominant tubulointerstitial kidney disease – UMOD (ADTKD-UMOD) is characterized by normal urinalysis and slowly progressive chronic kidney disease (CKD), usually first noted in the teen years and progressing to end-stage renal disease (ESRD) between the third and seventh decades. Hyperuricemia is often present from an early age, and gout (resulting from reduced kidney excretion of uric acid) occurs in the teenage years in about 8% of affected individuals and develops in 55% of affected individuals over time.
Nephrotic syndrome, type 19- MedGen UID:
- 1648305
- •Concept ID:
- C4748552
- •
- Disease or Syndrome
Nephrotic syndrome type 19 (NPHS19), a disease of the renal glomerular filter, is characterized by proteinuria, edema, and hypoalbuminemia. It does not respond to drug treatment and inevitably progresses to end-stage renal disease, thus requiring dialysis or renal transplantation for survival. Renal histology shows focal segmental glomerulosclerosis (summary by Braun et al., 2018).
Combined oxidative phosphorylation deficiency 55- MedGen UID:
- 1806598
- •Concept ID:
- C5676915
- •
- Disease or Syndrome
Combined oxidative phosphorylation deficiency-55 (COXPD55) is characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia phenotype has been described in 1 patient (summary by Olahova et al., 2021).
For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Osteopetrosis, autosomal recessive 9- MedGen UID:
- 1841123
- •Concept ID:
- C5830487
- •
- Disease or Syndrome
Autosomal recessive osteopetrosis-9 (OPTB9) is characterized by increased bone density and bone fragility, as well as renal failure. Vision may be compromised due to compression of the optic nerve secondary to osteopetrotic stenosis of the optic nerve canal (Xue et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive osteopetrosis, see OPTB1 (259700).