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Pierson syndrome
1 OMIM reference -
1 associated gene
20 connected diseases
12 signs/symptoms
Disease Type of connection
LAMB-2-related infantile-onset nephrotic syndrome
Synaptic congenital myasthenic syndromes
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Atypical Gaucher disease due to saposin C deficiency
Autosomal dominant hyper-IgE syndrome
Encephalopathy due to prosaposin deficiency
Infantile Krabbe disease
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Metachromatic leukodystrophy, adult form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, late infantile form
Spinocerebellar ataxia type 7
Congenital muscular dystrophy type 1A
Familial isolated dilated cardiomyopathy
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, Herlitz type
LOC syndrome
Synonym(s):
- Microcoria - congenital nephrosis
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the genitourinary system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C537185
Gene symbol UniProt reference OMIM reference
LAMB2 P55268150325
Very frequent
- Autosomal recessive inheritance
- Cataract / lens opacification
- Chronic arterial hypertension
- EEG anomalies
- Hematuria / microhematuria
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypotonia
- Movement disorder
- Nephrotic syndrome
- Nystagmus
- Proteinuria

Frequent
- Micropenis / small penis / agenesis