OBESITY-HYPOVENTILATION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: PICKWICKIAN SYNDROME
Number of Symptoms 7
OrphanetNr:
OMIM Id: 257500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001262) Somnolence 20 / 7739
2
(HPO:0001513) Obesity 172 / 7739
3
(HPO:0000961) Cyanosis 60 / 7739
4
(HPO:0002791) Hypoventilation 10 / 7739
5
(OMIM) Periodic breathing 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Muscular twitching 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: