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Allanson Pantzar McLeod syndrome

A severe autosomal recessive disorder affecting development of the kidney tubules. It is characterized by persistent fetal ANURIA and perinatal death, probably due to pulmonary hypoplasia from early-onset OLIGOHYDRAMNIOS (Potter phenotype). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. Mutations in the REN, AGT, AGTR 1, and ACE genes have been identified. OMIM: 267430
Also Known As:
Primitive renal tubule syndrome; Renal tubular dysgenesis; Renotubular dysgenesis
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