Ondine syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED
HADDAD SYNDROME, INCLUDED
OHD, INCLUDED
AUTONOMIC CONTROL, CONGENITAL FAILURE OF ONDINE CURSE, CONGENITAL ONDINE-HIRSCHSPRUNG DISEASE, INCLUDED
CCHS
Ondine curse
Central congenital hypoventilation syndrome
Congenital central alveolar hypoventilation syndrome
Number of Symptoms 33
OrphanetNr: 661
OMIM Id: 209880
ICD-10: G47.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.5 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic neurological disease
 -Rare genetic disease
Rare neurologic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000153) Abnormality of the mouth 60 / 7739
2
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
3
(HPO:0000369) Low-set ears 372 / 7739
4
(HPO:0000358) Posteriorly rotated ears 163 / 7739
5
(HPO:0003006) Neuroblastoma 16 / 7739
6
(HPO:0006747) Ganglioneuroblastoma 5 / 7739
7
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
8
(HPO:0100006) Neoplasm of the central nervous system Occasional [Orphanet] 34 / 7739
9
(HPO:0002251) Aganglionic megacolon Very frequent [Orphanet] 78 / 7739
10
(HPO:0003005) Ganglioneuroma 6 / 7739
11
(HPO:0002019) Constipation 194 / 7739
12
(HPO:0011968) Feeding difficulties 240 / 7739
13
(HPO:0000975) Hyperhidrosis 64 / 7739
14
(HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
15
(HPO:0004370) Abnormality of temperature regulation 58 / 7739
16
(HPO:0007110) Central hypoventilation 6 / 7739
17
(HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
18
(HPO:0002791) Hypoventilation 10 / 7739
19
(HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
20
(OMIM) Chronic hypoxemia 2 / 7739
21
(OMIM) Periods of apnea 2 / 7739
22
(OMIM) Decreased sensitivity to hypercapnia and hypoxemia 2 / 7739
23
(OMIM) Decreased basal body temperature 2 / 7739
24
(OMIM) Dysfunction of the autonomic nervous system 2 / 7739
25
(OMIM) Tumors of the sympathetic nervous system (5 to 10%) 2 / 7739
26
(OMIM) Abnormal respiration due to defect in autonomic function 2 / 7739
27
(OMIM) Normal respiratory rate 2 / 7739
28
(OMIM) Shallow breathing 3 / 7739
29
(OMIM) Chronic hypercapnia 2 / 7739
30
(HPO:0011420) Death Frequent [Orphanet] 184 / 7739
31
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
32
(HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
33
(OMIM) Diminished pupillary light responses 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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. ...
Clinical Description OMIM The syndrome of congenital central hypoventilation was first reported by Mellins et al. (1970). Cases were reported also by Deonna et al. (1974), Yasuma et al. (1987), O'Dell et al. (1987), Oren et al. (1987), and Weese-Mayer et ...
Molecular genetics OMIM - Mutation in the PHOX2B Gene

In mice, the development of reflex circuits of the autonomic nervous system is dependent on the paired-like homeobox gene Phox2b (603851). For that reason, Amiel et al. (2003) investigated the ...