Pierson syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME
Microcoria - congenital nephrosis
Number of Symptoms 35
OrphanetNr: 2670
OMIM Id: 609049
ICD-10: N04.8
UMLs: C1836876
MeSH: C537185
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 22 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary glomerular disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0001967) Diffuse mesangial sclerosis 11 / 7739
2
 (HPO:0000790) Hematuria Very frequent [Orphanet] 106 / 7739
3
 (HPO:0000100) Nephrotic syndrome Very frequent [Orphanet] 83 / 7739
4
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
5
 (HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
6
 (HPO:0000093) Proteinuria Very frequent [Orphanet] 169 / 7739
7
 (HPO:0007774) Hypoplasia of the ciliary body 1 / 7739
8
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
9
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
10
 (HPO:0000618) Blindness 124 / 7739
11
 (HPO:0007676) Hypoplasia of the iris 22 / 7739
12
 (HPO:0011502) Posterior lenticonus 1 / 7739
13
 (HPO:0001284) Areflexia 198 / 7739
14
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
15
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
16
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
17
 (HPO:0000822) Hypertension Very frequent [Orphanet] 224 / 7739
18
 (HPO:0000969) Edema 117 / 7739
19
 (HPO:0003075) Hypoproteinemia 27 / 7739
20
 (HPO:0001324) Muscle weakness 859 / 7739
21
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
22
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
23
 (HPO:0010547) Muscle flaccidity 466 / 7739
24
 (HPO:0003623) Neonatal onset 22 / 7739
25
 (OMIM) Death in first weeks of life without dialysis 1 / 7739
26
 (OMIM) Aplasia or atrophy of the dilatator pupillae muscle 1 / 7739
27
 (OMIM) Normal cognition 7 / 7739
28
 (OMIM) Early-onset end-stage renal disease 1 / 7739
29
 (OMIM) Psychomotor retardation in those that survive 1 / 7739
30
 (OMIM) Nonreactive, fixed narrowing of the pupil ('microcoria') 1 / 7739
31
 (OMIM) Congenital myasthenic syndrome (reported in 1 patient who survived to age 20 years) 1 / 7739
32
 (OMIM) Decreased or absent laminin beta-2 immunoreactivity in tissues of the anterior eye 1 / 7739
33
 (OMIM) Decreased or absent laminin beta-2 immunoreactivity in the glomerular basement membrane 1 / 7739
34
 (OMIM) Renal biopsy shows diffuse mesangial sclerosis 1 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Pierson et al. (1963) reported 2 sisters with congenital nephrotic syndrome and peculiar eye abnormalities. The renal disorder manifested in the newborn period with severe nephrotic syndrome followed by early-onset end-stage renal disease; both sisters died in the ...
Genotype-Phenotype Correlations OMIM Hasselbacher et al. (2006) stated that homozygosity or compound heterozygosity for LAMB2 mutations conferring complete loss of function (e.g., truncating mutations) appear to be associated consistently with the typical features of Pierson syndrome, including neonatal renal failure, severe ...
Molecular genetics OMIM In patients from 5 unrelated families with Pierson syndrome, Zenker et al. (2004) identified homozygous or compound heterozygous mutations of the LAMB2 gene (see 150325.0001-150325.0003). Most disease-associated alleles were truncating mutations. The respective LAMB2 mutations led to loss ...