loading...| Preferred Name |
Pierson syndrome |
| Synonyms |
Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C537185 |
| altLabel |
Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome Microcoria-Congenital Nephrotic Syndrome Microcoria and congenital nephrotic syndrome |
| cui |
C1836876 C3501249 |
| HM |
D020294 D009404 D011681 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D020294 |
| MDA |
20100825 |
| MeSH Frequency |
40 |
| MMR |
20190222 |
| notation |
C537185 |
| PI |
ABNORMALITIES, MULTIPLE (2010-2019) *EYE ABNORMALITIES (2010-2019) |
| prefLabel |
Pierson syndrome |
| SC |
3 |
| Scope Statement |
A hereditary autosomal recessive disorder characterized by congenital nephrotic syndrome with diffuse SCLEROSIS of the GLOMERULAR MESANGIUM and distinct ocular abnormalities, including microcoria (narrowing of the pupil) and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die in infancy, and those who survive tend to show neurodevelopmental delay and visual loss. Mutations in the LAMB2 gene have been identified. OMIM: 150325 |
| TERMUI |
T803635 T741750 T810855 T741749 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |