APNEA, OBSTRUCTIVE SLEEP

General Information (adopted from Orphanet):

Synonyms, Signs: SLEEP APNEA/HYPOPNEA SYNDROME
OBSTRUCTIVE SLEEP APNEA SYNDROME
SAHS
OSAS
OSA
OSAHS
Number of Symptoms 6
OrphanetNr:
OMIM Id: 107650
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000458) Anosmia 49 / 7739
2
(HPO:0002870) Obstructive sleep apnea 16 / 7739
3
(HPO:0002384) Focal seizures with impairment of consciousness or awareness 17 / 7739
4
(HPO:0001262) Somnolence 20 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(MedDRA:10041235) Snoring 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003).
Clinical Description OMIM Strohl et al. (1978) described 2 males and their father with severe hypersomnolence and obstructive sleep apnea. A third son, although asymptomatic, was shown to have upper-airway obstruction during sleep. Electromyographic recordings of genioglossal muscle activity showed loss ...
Molecular genetics OMIM Kadotani et al. (2001) studied apolipoprotein E4 (107741) in relation to sleep apnea because apoE4 is a risk factor for Alzheimer disease (AD; 104300) and cardiovascular disease, and sleep-disordered breathing occurs in AD patients and increases the risk ...