NARCOLEPSY 7

General Information (adopted from Orphanet):

Synonyms, Signs: NRCLP7
Number of Symptoms 8
OrphanetNr:
OMIM Id: 614250
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:0002524) Cataplexy 8 / 7739
2
 (HPO:0002189) Excessive daytime sleepiness 8 / 7739
3
 (HPO:0001513) Obesity 172 / 7739
4
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
 (OMIM) Decreased levels of CSF hypocretin (HCRT, 602358) 2 / 7739
6
 (OMIM) Decreased sleep latency 1 / 7739
7
 (HPO:0030050) Narcolepsy 6 / 7739
8
 (OMIM) Type 2 diabetes (in some) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hor et al. (2011) reported a large 4-generation family in which 12 living individuals had narcolepsy and cataplexy. A thirteenth had evidence suggesting the diagnosis. Seven affected individuals were obese and 4 had type 2 diabetes. Hypocretin (HCRT; ...
Molecular genetics OMIM Using genomewide linkage analysis followed by exome sequencing in affected members of a large Spanish family with narcolepsy and cataplexy, Hor et al. (2011) identified a heterozygous mutation in the MOG gene (S133C; 159465.0001). The findings suggested a ...