Table 3.

HLH protein diseases and mechanisms

Disease	Affected organ or tissue	HLH protein	evidence	Process affected
Pitt-Hopkins syndrome	Brain, face	E2-2	Human mutation	Differentiation? Cell cycle? Neuronal morphogenesis?
Fuchs corneal dystrophy	eye	E2-2	Human gene association	senescence?
schizophrenia	brain	E2-2	Human gene association	Differentiation? Cell cycle? Neuronal morphogenesis?
Rett syndrome	brain	E2A, ID1-4	Gene expression	Differentiation? Cell cycle? Neuronal morphogenesis?
atherosclerosis	arteries	E2A, ID3	Human, mouse gene association	Differentiation?
Diamond Blackfan anemia	Bone marrow	E2A, E2-2, ID2	Gene expression	Differentiation?
Diabetes, glucose and lipid metabolism	multiple	ID1–2,4	Mouse mutant models	Differentiation?
Osteoporosis	bone	ID1, ID4	Mouse mutant models	Differentiation?
Arterial vascular disease	arteries	ID1, ID3	Mouse mutant models	Cell cycle?
Congenital hydronephrosis	kidney	ID2	Mouse mutant models	Differentiation?
Polycystic kidney disease	Kidney	E2A, ID2	Gene expression	Cell cycle?
Parkinson’s disease	Brain, nerves	ID2	Mouse mutant models	Differentiation?
Sjogren’s syndrome	Lachrymal, salivary glands, skin	ID3	Mouse mutant models	Differentiation?