ORPHA:661
Congenital central hypoventilation syndrome
Synonyms: Ondine curse · Ondine syndrome · CCHS · Congenital central alveolar hypoventilation syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital central hypoventilation syndrome | Ondine curse · Ondine syndrome · CCHS · Congenital central alveolar hypoventilation syndrome |
| fr | Syndrome d'Ondine | CCHS · Syndrome d'hypoventilation alvéolaire centrale congénitale · Syndrome d'hypoventilation centrale congénitale |
| de | Kongenitales zentrales Hypoventilationssyndrom | CCHS · Hypoventilation, alveoläre kongenitale · Kongenitales zentral-alveoläres Hypoventilations-Syndrom · Ondine-Syndrom · Undine-Syndrom |
| es | Síndrome de hipoventilación central congénita | CCHS · Maldición de Ondine · Síndrome de Ondine · Síndrome de hipoventilación alveolar central congénita |
| it | Sindrome congenita da ipoventilazione centrale | CCHS · Maledizione di Ondine · Sindrome congenita da ipoventilazione alveolare centrale · Sindrome di Ondine |
| nl | Congenitale centrale hypoventilatie-syndroom | CCHS · Congenitale centrale alveolaire hypoventilatie-syndroom · Ondines vloek · Syndroom van Ondine |
| pt | Síndrome de hipoventilação central congénita | CCHS · Síndrome Ondine · Síndrome de hipoventilação alveolar central congénita |
| pl | Zespół Ondyny | CCHS · Klątwa Ondyny · Zespół wrodzonej ośrodkowej hipowentylacji · Zespół wrodzonej ośrodkowej hipowentylacji pęcherzykowej |
| cs | Ondinina kletba | CCHS · Vrozený centrální hypoventilační syndrom · Vrozený centrální alveolární hypoventilační syndrom |
| uk | Синдром вродженої центральної гіповентиляції | CCHS · Синдром вродженої центральної альвеолярної гіповентиляції · Прокляття Ундіни · Синдром Ундіни |
| zh | Ondine综合征 | 先天性中枢性肺泡换气不足综合征 |
| tr | Ondine sendromu | CCHS · Ondine laneti · Santral doğumsal hipoventilasyon sendromu · Doğumsal santral alveolar hipoventilasyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 209880 | E | validated | |
| OMIM | 619482 | BTNT | validated | |
| OMIM | 619483 | BTNT | validated | |
| ICD-10 | G47.3 | NTBT | index | validated |
| ICD-11 | 7A42.1 | E | specific | validated |
| MeSH | C536209 | E | validated | |
| UMLS | C1275808 | E | validated | |
| GARD | 8535 | E | validated | |
| MedDRA | 10066131 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:423662Rare autonomic nervous system disorder
rare neurological diseases - ORPHA:434786Rare genetic autonomic nervous system disorder
rare genetic diseases - ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:101944Rare pulmonary disease
rare respiratory diseases
No children.
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BDNF | Candidate gene tested in | Not yet assessed | HGNC:1033 | ENSG00000176697 | 113505 | 11p14.1 | brain derived neurotrophic factor | 11840487[PMID] |
| EDN3 | Candidate gene tested in | Not yet assessed | HGNC:3178 | ENSG00000124205 | 131242 | 20q13.32 | endothelin 3 | 8696331[PMID]_20301600[PMID] |
| GDNF | Candidate gene tested in | Not yet assessed | HGNC:4232 | ENSG00000168621 | 600837 | 5p13.2 | glial cell derived neurotrophic factor | |
| LBX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:16960 | ENSG00000138136 | 604255 | 10q24.32 | ladybird homeobox 1 | 30487221[PMID] |
| MYO1H | Disease-causing germline mutation(s) in | Assessed | HGNC:13879 | ENSG00000174527 | 614636 | 12q24.11 | myosin IH | 28779001[PMID] |
| PHOX2B | Disease-causing germline mutation(s) in | Assessed | HGNC:9143 | ENSG00000109132 | 603851 | 4p13 | paired like homeobox 2B | 20301600[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | France | Value and class | Validated | 15653965[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002270 | Abnormality of the autonomic nervous system | |
| HP:0002093 | Respiratory insufficiency | |
| Occasional (29-5%) | ||
| HP:0002251 | Aganglionic megacolon | |
| HP:0100543 | Cognitive impairment | |
| HP:0006747 | Ganglioneuroblastoma | |
| HP:0003005 | Ganglioneuroma | |
| HP:0001252 | Hypotonia | |
| HP:0100006 | Neoplasm of the central nervous system | |
| HP:0003006 | Neuroblastoma | |
| HP:0001250 | Seizure | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/661
- This record as JSON: /data/d/661.json