Pierson Syndrome

Description

Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.

Clinical Features

Top most frequent phenotypes and symptoms related to Pierson Syndrome

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Visual impairment
  • Edema
  • Blindness
  • Renal insufficiency
  • Visual loss
  • Areflexia
  • Proteinuria

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including infantile onset, and neonatal onset .

Alternative names

Pierson Syndrome Is also known as microcoria-congenital nephrotic syndrome, microcoria-congenital nephrosis syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Pierson Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LAMB2 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

LAMB2
Specificity
100 %
Genes
100 %
Early Onset Nephrotic Syndrome Evaluation.

By Athena Diagnostics Inc (United States).

WT1, NPHS2, PLCE1, LAMB2, NPHS1
Specificity
20 %
Genes
100 %
Anterior segment defects.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

PORCN, B3GLCT, COL4A1, CYP1B1, EYA1, FOXC1, FOXE3, KERA, LAMB2, PAX2, PAX6, PITX2, PITX3
Specificity
8 %
Genes
100 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Exome PLUS Proteinuria/FSGS & Hematuria.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
LAMB2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

LAMB2
Specificity
100 %
Genes
100 %
LAMB2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

LAMB2
Specificity
100 %
Genes
100 %
Nephrotic syndrome type 5 (sequence analysis of LAMB2 gene).

By CGC Genetics (Portugal).

LAMB2
Specificity
100 %
Genes
100 %

We have 36 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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