Table 5.

Human diseases caused by defective inositol lipid phosphatases

Disease	Enzyme Defect	Main Symptoms and Pathology	Reference Nos.
OCRL	OCRL 5-phosphatase	Early cataract, mental retardation, renal tubular acidosis, aminoaciduria	61, 1483
Dent disease	OCRL 5-phosphatase	Variable, milder forms of Lowe's syndrome	647
ALS, PLS (small %)	Sac3/Fig4	Progressive degeneration of motor neurons	252
Charcot-Marie-Tooth type CMT4J	Sac3/Fig4	Peripheral sensorimotor neuropathy	253
Downs syndrome??	Synaptojanin 1 trisomy?	Multiple neurological symptoms in CNS	1647
Joubert syndrome	INPP5E/Pharbin	Midbrain-hindbrain malformation, retinodystrophy, nephronophthisis, liver cirrhosis, polydactyly	145
X-linked myotubular myopathy	MTM1	Skeletal muscle weakness, centronuclear myopathy	858
Charcot-Marie-Tooth disease type CMT4B1	MTMR2	Peripheral neuropathy with demyelinization	159, 653
Charcot-Marie-Tooth disease type CMT4B1	MTMR13	Peripheral neuropathy with demyelinization	69
Autosomal recessive centronuclear myopathy	MTMR14/hJUMPY	Centronuclear myopathy	1566