APNEA, CENTRAL SLEEP

General Information (adopted from Orphanet):

Synonyms, Signs: SLEEP APNEA, LETHAL CENTRAL
Number of Symptoms 11
OrphanetNr:
OMIM Id: 207720
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:0000020) Urinary incontinence 75 / 7739
2
 (HPO:0010535) Sleep apnea 24 / 7739
3
 (HPO:0000961) Cyanosis 60 / 7739
4
 (HPO:0003128) Lactic acidosis 116 / 7739
5
 (HPO:0012195) Irregular respiration 3 / 7739
6
 (HPO:0010547) Muscle flaccidity 466 / 7739
7
 (HPO:0001324) Muscle weakness 859 / 7739
8
 (HPO:0001252) Muscular hypotonia 990 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (OMIM) Urinary inhibitor to thiamine triphosphate (TTP) 1 / 7739
11
 (OMIM) Cyanosis, perioral 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: