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Article

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.

Respiratory physiology & neurobiology - 15 Jan 2016

Barclay Sarah F, Rand Casey M, Gray Paul A, Gibson William T, Wilson Richard J A, Berry-Kravis Elizabeth M, Ize-Ludlow Diego, Bech-Hansen N Torben, Weese-Mayer Debra E

Abstract excerpt

BACKGROUND AND OBJECTIVES: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare pediatric disease of unknown cause. Here, in response to a recent case report describing a ROHHAD patient who suffered from secondary narcolepsy confirmed by an absence of hypocretin-1 in the cerebrospinal fluid, we consider whether the ROHHAD phenotype is owing to one or...

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Source

Identifiers

PMID: 26555080
DOI: 10.1016/j.resp.2015.11.002

Genes

HCRT
HCRTR1
HCRTR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.PMID 26555080Read ↗

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