Pulmonary Fibrosis_Interstitial Lung Disease

Gene: SMPD1

Green List (high evidence)

Niemann-Pick disease (NPD) refers to a group of disorders that present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Type A NPD patients exhibit hepatosplenomegaly in infancy and profound CNS involvement. They rarely survive beyond 2-3years of age. Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no CNS signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Intermediate patients also have been reported with mild to moderate neurological findings.

Well established gene-disease association.

Created: 14 Apr 2021, 4:23 a.m. | Last Modified: 14 Apr 2021, 4:29 a.m.

Panel Version: 0.7166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756; Niemann-Pick disease, type B, MIM# 607616; MONDO:0011871

Publications

• 32292456
• 32280632
• 28164782