| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (34.8%) |
29051055 |
Skeletal impairment in Pierson syndrome: Is there a role for lamininbeta2 in bone physiology? Beaufils C, Farlay D, Machuca-Gayet I, Fassier A, Zenker M, Freychet C, Bonnelye E, Bertholet-Thomas A, Ranchin B, Bacchetta J. Bone. 2018;106:187-193. |
| Scoliosis Genu varum | ||
| Eye Abnormalities Females Homo sapiens Laminin Mutation Myasthenic Syndromes, Congenital Nephrotic Syndrome Neuromuscular Diseases Pupil Disorders | ||
| 2 (4.0%) |
30778388 |
A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome. Zhu HT, Maimaiti M, Cao C, Luo YF, Julaiti D, Liang L, Abudureheman A. Front Med (Lausanne). 2019;6:12. |
| Proteinuria | ||
| c|INS|2044_2045|TT p|FS|C|682|F|13 | ||
| 2 (4.0%) |
29094445 |
Kidney transplantation in a child with Pierson syndrome. Guler S, Cimen S, Acott P, Whelan K, Molinari M. Pediatr Transplant. 2017;21(8):. |
| Nephrotic syndrome | ||
| Child, Preschool Eye Abnormalities Homo sapiens Kidney Transplantation Male Myasthenic Syndromes, Congenital Nephrotic Syndrome Pupil Disorders | ||
| 2 (4.0%) |
28683731 (5501564) |
Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations. Kino J, Tsukaguchi H, Kimata T, Nguyen HT, Nakano Y, Miyake N, Matsumoto N, Kaneko K. BMC Nephrol. 2017;18(1):220. |
| Glomerular sclerosis | ||
| LAMB2 | ||
| c|SUB|G|1225+1|A p|SUB|G|1693|A | ||
| Fatal Outcome Females Homo sapiens Infant Laminin Loss of Function Mutation Nephrons Nephrotic Syndrome | ||
| 2 (4.0%) |
28188379 (5352804) |
A novel mutation of laminin beta2 (LAMB2) in two siblings with renal failure. Falix FA, Bennebroek CA, van der Zwaag B, Lapid-Gortzak R, Florquin S, Oosterveld MJ. Eur J Pediatr. 2017;176(4):515-519. |
| Renal insufficiency | ||
| LAMB2 | ||
| c|SUB|T|970|C p|SUB|C|324|R | ||
| Child Child, Preschool Eye Abnormalities Females Homo sapiens Kidney Kidney Glomerulus Laminin Mutation Myasthenic Syndromes, Congenital Nephrectomy Nephrotic Syndrome Phenotype Pupil Disorders Renal Insufficiency Retina Sibling Tomography, Optical | ||
| 2 (4.0%) |
27925579 |
LAMB2 mutation with different phenotypes in China
. Zhang H, Cui J, Wang F, Xiao H, Ding J, Yao Y. Clin Nephrol. 2017;87 (2017)(1):33-38. |
| Nephrotic syndrome | ||
| LAMB2 | ||
| Child, Preschool China Eye Abnormalities Females Homo sapiens Infant Laminin Mutation Myasthenic Syndromes, Congenital Nephrotic Syndrome Phenotype Pupil Disorders | ||
| 2 (4.0%) |
27130041 (4851796) |
A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome. Zemrani B, Cachat F, Bonny O, Giannoni E, Durig J, Fellmann F, Chehade H. Eur J Med Res. 2016;21:19. |
| Respiratory distress | ||
| LAMB2 | ||
| c|SUB|C|2890|T;RS#:730880125 p|SUB|R|964|* | ||
| Codon, Nonsense DNA Mutational Analysis Eye Abnormalities Fatal Outcome Females Homo sapiens Infant, Newborn Laminin Male Myasthenic Syndromes, Congenital Nephrotic Syndrome Phenotype Pupil Disorders Severity of Illness Index | ||
| 2 (4.0%) |
27004562 (4802576) |
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report. Qiu L, Zhou J. BMC Pediatr. 2016;16:44. |
| Congenital nephrotic syndrome | ||
| LAMB2 NPHP1 | ||
| c|DEL|1176_1178|TCT c|SUB|T|4923+2|G | ||
| Adaptor Proteins, Signal Transducing China Cytoskeletal Proteins Females Genetic Markers Heterozygote Homo sapiens Infant Laminin Membrane Proteins Mutation Nephrotic Syndrome Phenotype | ||
| 2 (4.0%) |
24032283 |
A novel mutation of laminin beta-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period. Aydin B, Ipek MS, Ozaltin F, Zenciroglu A, Dilli D, Beken S, Okumus N, Hosagasi N, Saygili-Karagol B, Kundak A, Renda R, Aydog O. Genet Couns. 2013;24(2):141-7. |
| Nephrotic syndrome | ||
| LAMB2 | ||
| c|SUB|T|IVS4+2|C | ||
| Eye Abnormalities Fatal Outcome Females Gestational Age Homo sapiens Infant, Newborn Laminin Mutation Myasthenic Syndromes, Congenital Nephrotic Syndrome Pupil Disorders RNA Splicing | ||
| 2 (4.0%) |
23679161 |
First Japanese case of Pierson syndrome with mutations in LAMB2. Togawa H, Nakanishi K, Mukaiyama H, Hama T, Shima Y, Nakano M, Fujita N, Iijima K, Yoshikawa N. Pediatr Int. 2013;55(2):229-31. |
| Congenital nephrotic syndrome | ||
| LAMB2 | ||
| c|INS|3974_3975|A c|SUB|C|4519|T p|FS|N|1325|K|1331 p|SUB|Q|1507|X | ||
| DNA DNA Mutational Analysis Eye Abnormalities Females Homo sapiens Infant, Newborn Japan Laminin Mutation Myasthenic Syndromes, Congenital Nephrotic Syndrome Phenotype Pupil Disorders |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 10
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0008677 | Congenital nephrotic syndrome | 10 |
| HP:0025492 | Microcoria | 9 |
| HP:0000100 | Nephrotic syndrome | 3 |
| HP:0001967 | Diffuse mesangial sclerosis | 2 |
| HP:0000093 | Proteinuria | 1 |
| HP:0000526 | Aniridia | 1 |
| HP:0000545 | Myopia | 1 |
| HP:0002323 | Anencephaly | 1 |
| HP:0011003 | High myopia | 1 |
| HP:0012588 | Steroid-resistant nephrotic syndrome | 1 |