Details of Disease | DrugMAP

General Information of Disease (ID: DIS0DF3C)

Disease Name	Pierson syndrome
Synonyms	microcoria - congenital nephrosis; microcoria-congenital nephrotic syndrome; microcoria - congenital nephrotic syndrome; Pierson syndrome; microcoria-congenital nephrosis syndrome
Definition	Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISPHEAV: LAMB2-related infantile-onset nephrotic syndrome DIS0DF3C: Pierson syndrome
Disease Identifiers	MONDO ID MONDO_0012184 MESH ID C537185 UMLS CUI C1836876 OMIM ID 609049 MedGen ID 373199 Orphanet ID 2670 SNOMED CT ID 723449004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NPHS1	OT21JD3P	moderate	Genetic Variation	[1]
NPHS2	OTLCNUII	moderate	Biomarker	[1]
TNS2	OTP72P0F	Strong	Biomarker	[2]
LAMB2	OT71OI2Y	Definitive	Autosomal recessive	[3]
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References

1	Molecular pathology of nephrotic syndrome in childhood: a contemporary approach to diagnosis.Pediatr Dev Pathol. 2008 Jul-Aug;11(4):154-63. doi: 10.2350/07-11-0375.1.
2	Deficiency of the tensin2 gene in the ICGN mouse: an animal model for congenital nephrotic syndrome.Mamm Genome. 2006 May;17(5):407-16. doi: 10.1007/s00335-005-0167-z.
3	A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome. Front Med (Lausanne). 2019 Feb 4;6:12. doi: 10.3389/fmed.2019.00012. eCollection 2019.