MeSH Browser

MeSH Supplementary: Allanson Pantzar McLeod syndrome
Unique ID: C537048
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537048
Entry Term(s): Primitive renal tubule syndrome; Renal tubular dysgenesis; Renotubular dysgenesis
Registry Number: 0
Heading Mapped to: Kidney Tubules, Proximal / *abnormalities; *Urogenital Abnormalities
Frequency: 45
Note: 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 of Entry: 2010/06/25
Revision Date: 2015/09/25

Concept UI: M0531509
Registry Number: 0
Terms: Allanson Pantzar McLeod syndrome Preferred Term
Term UI T741294
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Renotubular dysgenesis
Term UI T741296
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Renal tubular dysgenesis
Term UI T741297
Date02/24/2009
LexicalTag NON
ThesaurusID; Primitive renal tubule syndrome
Term UI T741295
Date02/24/2009
LexicalTag NON
ThesaurusID

Allanson Pantzar McLeod syndrome MeSH Supplementary Concept Data 2024