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Medical Subject Headings
Last uploaded:
August 28, 2024
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| Preferred Name | Allanson Pantzar McLeod syndrome | |
| Synonyms |
Renotubular dysgenesis Renal tubular dysgenesis Primitive renal tubule syndrome |
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| ID |
http://purl.bioontology.org/ontology/MESH/C537048 |
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| altLabel |
Renotubular dysgenesis Renal tubular dysgenesis Primitive renal tubule syndrome
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| cui |
C0266313
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| Has mapping qualifier | ||
| HM |
D014564 D007687/Q000002
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| Inverse of RB |
0
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| Mapped to | ||
| MDA |
20100625
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| MeSH Frequency |
45
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| MMR |
20150925
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| notation |
C537048
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|
| prefLabel |
Allanson Pantzar McLeod syndrome
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| SC |
3
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| Scope Statement |
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
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| TERMUI |
T741295 T741297 T741296 T741294
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| TH |
OMIM (2013) ORD (2010)
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| tui |
T047
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