Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome
Description
Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome, also known as MORM syndrome (MORMS), is a novel autosomal recessive disorder with a condition related to Bardet-Biedl syndrome [DS:H00418]. A mutation affecting INPP5E ciliary localization and cilium stability has been identified in a family with MORM syndrome. It has been suggested that INPP5E plays an essential role in the primary cilium by controlling ciliary growth factor and PI3K signaling and stability.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball posterior segment
Disorders of the retina
9B70 Inherited retinal dystrophies
H02899 Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome
Jacoby M, Cox JJ, Gayral S, Hampshire DJ, Ayub M, Blockmans M, Pernot E, Kisseleva MV, Compere P, Schiffmann SN, Gergely F, Riley JH, Perez-Morga D, Woods CG, Schurmans S
Title
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
