Renin deficiency
| Disorder | |
|---|---|
| OMIM #: | *179820 (Click to access OMIM database) |
| Disorder: | Renin deficiency |
| Also known as: | Oligohydramnios, Potter sequence, and calvarial hypoplasia without renal tubular dysgenesis |
| Clinical | |
| Phenotype: | severe oligohydramnios, pulmonary insufficiency, hypotension, hypocalvaria |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | REN |
| Base Change: | c.891delG |
| Amino Acid Change: | p.Tyr287* |
| Last updated: | 2022-11-15 |
| References |
|---|
| Dilliott AA, Wang J, Brown E, Singh G, Shkrum MJ, Clin M, Rupar CA, Hegele RA, Siu VM. (2020) A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin-angiotensin pathway, without renal tubular dysgenesis. Am J Med Genet A Oct;182(10):2284-2290. PubMed ID: 33043632 |
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