Pierson syndrome

Preferred Label : Pierson syndrome;

Symbol : PIERS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microcoria-congenital nephrotic syndrome;

Description : Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by Zenker et al., 2004). Mutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5; 614199).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the laminin beta-2 gene (LAMB2, 150325.0001);

Laboratory abnormalities : Hypoproteinemia;

Prefixed ID : #609049;

Details

Origin ID

609049;

UMLS CUI

C1836876;

Currated CISMeF NLP mapping
- Pierson Syndrome [NCIt concept]
- Pierson syndrome [DO Concept]
- Pierson syndrome [Disease (Nov.)]
- Pierson syndrome [ICD-11 More detail]
- Pierson syndrome [MeSH concept]
- Pierson syndrome [ORDO Disease]
- Pierson syndrome (disorder) [SNOMED CT concept]
- pierson syndrome [MeSH Supplementary Concept]
DO Cross reference
- Pierson syndrome [DO Concept]
Genes related to phenotype
- Laminin, beta-2 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cataract [HPO term]
- Congenital onset [HPO term]
- Death in childhood [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Edema [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- High myopia [HPO term]
- Hyperechogenic kidneys [HPO term]
- Hypertension [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Hypoplasia of the ciliary body [HPO term]
- Hypoplasia of the iris [HPO term]
- Hypoproteinemia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Macular hypoplasia [HPO term]
- Microcephaly [HPO term]
- Microcoria [HPO term]
- Microphthalmia [HPO term]
- Motor delay [HPO term]
- Neonatal onset [HPO term]
- Nephrotic syndrome [HPO term]
- Oligohydramnios [HPO term]
- Persistent head lag [HPO term]
- Posterior lenticonus [HPO term]
- Progressive microcephaly [HPO term]
- Proteinuria [HPO term]
- Psychomotor retardation [HPO term]
- Remnants of the hyaloid vascular system [HPO term]
- Retinal detachment [HPO term]
- Retinal hemorrhage [HPO term]
- Retinal vascular tortuosity [HPO term]
- Rieger anomaly [HPO term]
- Skeletal muscle atrophy [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Tube feeding [HPO term]
- Uveal ectropion [HPO term]
ORDO concept(s)
- Pierson syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pierson Syndrome [NCIt concept]
- Pierson syndrome [ORDO Disease]
- Pierson syndrome [MeSH concept]
- Pierson syndrome [DO Concept]
- Pierson syndrome [Disease (Nov.)]
- Pierson syndrome (disorder) [SNOMED CT concept]
- pierson syndrome [MeSH Supplementary Concept]

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