Table 7.

Reported human candidate genes for ROHHAD/NET.

Gene	Location	Protein	Function	Reference Number
RAI1	17p11.2	p.R1089X	Craniofacial and nervous system development	Thaker et al. [12]
NTRK2	9q21.33	p.P204H Tropomyosin receptor kinase B (TrkB),	Neuroendocrine /synaptic plasticity	Ize-Ludlow et al. [6]
NECDIN	15q11–q13	Necdin (p.V318A)	Hypothalamic/respiratory	De Pontual et al.[52]
ASCL1	12q23.2	Human achaete-scute homolog 1 (hASH1)	Neuroendocrine	De Pontual et al. [52]
PHOX2B	4p13,	Paired mesoderm homeobox protein 2B (NBPhox)	Respiratory/autonomic	Ize-Ludlow et al. [6] De Pontual et al. [52]
BDNF	11p14.1	Brain-derived neurotrophic factor (BDNF)	Neuronal development/synaptic plasticity	Ize-Ludlow et al.[6] Han et al. [53]
HCRT	17q21.2	Hypocretins	Sleep/wake regulation, energy balance, and the control of breathing	Barclay et al. [51]
HCRTR1	1p35.2	Hypocretin receptor type 1 (HcrtR1),	Sleep/wake regulation, energy balance, and the control of breathing	Barclay et al. [51]
HCRTR2	6p12.1	Hypocretin receptor type 2 (HcrtR2),	Sleep/wake regulation, energy balance, and the control of breathing	Barclay et al. [51]
HTR 1A	5q12.3	5-hydroxytryptamine (serotonin) receptor 1A	Appetite control, energy regulation, autonomic response to homeostatic stress	Rand et al. [54]
OTP	5q14.1	Orthopedia (Otp) homeodomain protein	Hypothalamic expression, with an important role in hypothalamic cell specification in the developing hypothalamus	Rand et al. [54]
ADCYAP1	18p11.32	Adenylate Cyclase Activating Polypeptide 1	Maintenance of normal energy homeostasis, respiratory chemosensitivity and preventing neonatal hypoventilation at reduced body temperatures	Rand et al. [54]