Proteinuria

Gene: LAMB2

Green List (high evidence)

Pierson syndrome (PIERS) 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. Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus. More than 5 unrelated families reported.

Created: 25 Mar 2022, 2:58 a.m. | Last Modified: 25 Mar 2022, 2:58 a.m.

Panel Version: 0.174

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199

Publications

• 14136829
• 15372515
• 17256789

Green List (high evidence)

Pierson syndrome (PIERS) 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.

Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.

More than 5 unrelated families reported.

Created: 24 Mar 2022, 12:07 a.m. | Last Modified: 24 Mar 2022, 12:09 a.m.

Panel Version: 0.11864

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199

Publications

• 14136829
• 15372515
• 17256789