Central hypoventilation syndrome, congenital, 1

Preferred Label : Central hypoventilation syndrome, congenital, 1;

Symbol : CCHS1;

CISMeF acronym : CCHS; OHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Autonomic control, congenital failure of; Ondine curse, congenital; CCHS;

Included titles and symbols : Ondine-hirschsprung disease; Cchs with hirschsprung disease; Haddad syndrome; OHD;

Description : Idiopathic congenital central hypoventilation syndrome, also known as 'Ondine's curse' (Deonna et al., 1974), is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. Patients breathe normally while awake, but hypoventilate with normal respiratory rates and shallow breathing during sleep; more severely affected patients hypoventilate both awake and asleep. These patients typically present in the first hours of life with cyanosis and increased carbon dioxide during sleep. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia (reviewed by Weese-Mayer et al., 1999). Congenital central hypoventilation syndrome has been associated with several disorders classified as neurocristopathies, that is, aberrant phenotypes arising from a defect of migration or differentiation of neural crest cells. These include neuroblastoma (Haddad et al., 1978), ganglioneuroma (Swaminathan et al., 1989), and most frequently Hirschsprung disease (HSCR) which appears in 16% of CCHS patients. The association of CCHS and HSCR is referred to as Haddad syndrome. Congenital central hypoventilation can be a feature of other developmental disorders, such as those caused by mutation in the MECP2 gene (300005).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the paired-like homeobox 2B gene (PHOX2B, 603851.0001); Caused by mutation in the Achaete-scute family bHLH transcription factor 1 gene (ASCL1, 100790.0001); Caused by mutation in the RET protooncogene (RET, 164761.0045); Caused by mutation in the glial cell line-derived neurotrophic factor gene (GDNF, 600837.0001); Caused by mutation in the brain-derived neurotrophic factor gene (BDNF, 113505.0001); Caused by mutation in the endothelin 3 (EDN3, 131242.0003);

Neoplasia : Tumors of the sympathetic nervous system (5 to 10%); Neuroblastoma; Ganglioneuroma; Ganglioneuroblastoma;

Laboratory abnormalities : Chronic hypoxemia; Chronic hypercapnia;

Prefixed ID : #209880;

Details

Origin ID

209880;

UMLS CUI

C5562075;

Automatic exact mappings (from CISMeF team)
- Congenital central alveolar sleep-related hypoventilation [ICD-11 Subcategory]
- Haddad syndrome [ICD-11 More detail]
- cchs with hirschsprung disease [MeSH concept]
Currated CISMeF NLP mapping
- Congenital Central Hypoventilation [NCIt concept]
- Congenital central alveolar hypoventilation syndrome [ICD-9 code]
- Congenital central hypoventilation (disorder) [SNOMED CT concept]
- Congenital central hypoventilation syndrome [ORDO Disease]
- Congenital central hypoventilation syndrome [MedDRA Preferred Term]
- Congenital central hypoventilation syndrome [MeSH concept]
- Haddad syndrome (disorder) [SNOMED CT concept]
- Sleep-related respiratory failure (disorder) [SNOMED CT concept]
- congenital central hypoventilation syndrome [DO Concept]
- congenital central hypoventilation syndrome [Disease (Nov.)]
- congenital central hypoventilation syndrome [MeSH Supplementary Concept]
- sleep apnea, central [MeSH Descriptor]
DO Cross reference
- congenital central hypoventilation syndrome [DO Concept]
Genes related to phenotype
- Paired-like homeobox 2b [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Abnormality of temperature regulation [HPO term]
- Aganglionic megacolon [HPO term]
- Apnea [HPO term]
- Autosomal dominant inheritance [HPO term]
- Central hypoventilation [HPO term]
- Chronic constipation [HPO term]
- Congenital onset [HPO term]
- Decreased heart rate variability [HPO term]
- Downslanted palpebral fissures [HPO term]
- Feeding difficulties [HPO term]
- Ganglioneuroblastoma [HPO term]
- Ganglioneuroma [HPO term]
- Hypercapnia [HPO term]
- Hyperhidrosis [HPO term]
- Hypoventilation [HPO term]
- Hypoxemia [HPO term]
- Ineffective esophageal peristalsis [HPO term]
- Infantile onset [HPO term]
- Low-set ears [HPO term]
- Neonatal onset [HPO term]
- Neuroblastoma [HPO term]
- Nocturnal hypoventilation [HPO term]
- Posteriorly rotated ears [HPO term]
Narrower ORDO disease(s)
- Congenital central hypoventilation syndrome [ORDO Disease]
- Haddad syndrome [ORDO Disease]
ORDO concept(s)
- Congenital central hypoventilation syndrome [ORDO Disease]
- Haddad syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Central Hypoventilation [NCIt concept]
- Congenital central hypoventilation (disorder) [SNOMED CT concept]
- Congenital central hypoventilation syndrome [MedDRA Preferred Term]
- Congenital central hypoventilation syndrome [MeSH concept]
- Congenital central hypoventilation syndrome [ORDO Disease]
- Haddad syndrome [ORDO Disease]
- congenital central hypoventilation syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Haddad syndrome [ORDO Disease]

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