| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 2 (4.0%) |
23087559 (3459528) |
Diffuse mesangial sclerosis - Report of two cases. Vankalakunti M, Jha PK, Madraki RM, Siddini V, Babu K, Ballal SH. Indian J Nephrol. 2012;22(3):213-6. |
| Nephrotic syndrome | ||
| 2 (4.0%) |
22228401 |
Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR. Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper MJ. Pediatr Nephrol. 2012;27(5):865-8. |
| Proteinuria | ||
| c|SUB|T|240|G;RS#:746230397 p|SUB|S|80|R;RS#:746230397 | ||
| Angiotensin II Type 1 Receptor Blockers Angiotensin-Converting Enzyme Inhibitors Biopsy Eye Abnormalities Females Glomerular Filtration Rate Homo sapiens Kidney Laminin Missense Mutation Mutation Myasthenic Syndromes, Congenital Myopia Nephrotic Syndrome Phenotype Proteinuria Pupil Disorders Retinal Detachment Vision Disorders | ||
| 2 (4.0%) |
19861315 |
The first Chinese Pierson syndrome with novel mutations in LAMB2. Zhao D, Ding J, Wang F, Fan Q, Guan N, Wang S, Zhang Y. Nephrol Dial Transplant. 2010;25(3):776-8. |
| Nystagmus | ||
| LAMB2 | ||
| Child, Preschool China Eye Abnormalities Females Gene Deletion Homo sapiens Kidney Diseases Laminin Mutation Proteinuria Syndrome | ||
| 2 (4.0%) |
18278520 |
Variable phenotype of Pierson syndrome. Choi HJ, Lee BH, Kang JH, Jeong HJ, Moon KC, Ha IS, Yu YS, Matejas V, Zenker M, Choi Y, Cheong HI. Pediatr Nephrol. 2008;23(6):995-1000. |
| Nephrotic syndrome | ||
| DNA Mutational Analysis Eye Abnormalities Females Genetic Predisposition to Disease Glomerular Basement Membrane Homo sapiens Infant Infant, Newborn Kidney Kidney Function Tests Korea Laminin Mutation Nephrotic Syndrome Phenotype Severity of Illness Index Ultrasonography | ||
| 2 (4.0%) |
17943323 |
A milder variant of Pierson syndrome. Kagan M, Cohen AH, Matejas V, Vlangos C, Zenker M. Pediatr Nephrol. 2008;23(2):323-7. |
| Myopia | ||
| Blindness Eye Abnormalities Homo sapiens Infant Laminin Male Missense Mutation Nephrotic Syndrome Psychomotor Disorders Syndrome | ||
| 2 (4.0%) |
16898484 |
[LAMB2 gene mutation as a cause of congenital nephrotic syndrome with distinct eye abnormalities and hypotonia]. Zurowska A, Zaluska-Lesniewska I, Zenker M. Przegl Lek. 2006;63 Suppl 3:37-9. |
| Cataract | ||
| LAMB2 | ||
| Eye Abnormalities Fatal Outcome Females Homo sapiens Infant Laminin Missense Mutation Molecular Sequence Data Nephrotic Syndrome Pregnancy | ||
| 2 (4.0%) |
16864643 |
Pierson syndrome: a novel cause of congenital nephrotic syndrome. VanDeVoorde R, Witte D, Kogan J, Goebel J. Pediatrics. 2006;118(2):e501-5. |
| Renal insufficiency | ||
| KCNMB2 | ||
| Adult Biopsy Differential Diagnosis Edema Females Heterozygote Homo sapiens Infant, Newborn Infant, Small for Gestational Age Kidney Kidney Glomerulus Laminin Male Mesangial Cells, Kidney Nephrotic Syndrome Oligohydramnios Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 2 (4.0%) |
16450351 |
Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome. Mark K, Reis A, Zenker M. Prenat Diagn. 2006;26(3):262-6. |
| Nephrotic syndrome | ||
| LAMB2 NPHS1 | ||
| Anencephaly Eye Abnormalities Fatal Outcome Females Fetal Death Fetal Diseases Homo sapiens Infant Lamin Type B Male Mutation Nephrotic Syndrome Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 2 (4.0%) |
15372515 |
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dotsch J, Reis A, Muntefering H, Neumann LM. Am J Med Genet A. 2004;130A(2):138-45. |
| Nephrotic syndrome | ||
| Eye Abnormalities Fatal Outcome Females Genes, Recessive Homo sapiens Infant Infant, Newborn Male Necrosis Nephrosis Pupil Disorders Syndrome |
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 |