Pyloric stenosis, infantile hypertrophic, 1- MedGen UID:
- 357978
- •Concept ID:
- C1867403
- •
- Disease or Syndrome
Infantile pyloric stenosis is the most common condition requiring surgical intervention in the first year of life. It typically presents in infants 2 to 6 weeks after birth. Clinically the disorder is characterized by projectile vomiting, visible gastric peristalsis, and a palpable pyloric tumor (summary by Everett et al., 2008). Mortality was high until successful treatment by pyloromyotomy was developed by Ramstedt (1912).
Genetic Heterogeneity of Infantile Hypertrophic Pyloric Stenosis
Multiple susceptibility loci have been implicated in IHPS including IHPS1 on chromosome 12q, IHPS2 (610260) on chromosome 16p13-p12, IHPS3 (612017) on chromosome 11q14-q22, IHPS4 (300711) on chromosome Xq23, and IHPS5 (612525) on chromosome 16q24.
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome- MedGen UID:
- 462559
- •Concept ID:
- C3151209
- •
- Disease or Syndrome
HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely (summary by Belostotsky et al., 2011).