Allanson Pantzar McLeod syndrome [Supplementary Concept]
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
Date introduced: June 25, 2010
MeSH Unique ID: C537048
Heading Mapped to:
Entry Terms:
- Renotubular dysgenesis
- Renal tubular dysgenesis
- Primitive renal tubule syndrome