IllnessNarcolepsy, differential diagnosis

NGS + SNP

Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle, most often starting in adolescence. It is characterized by excessive daytime sleepiness with "Sleep attacks" lasting from seconds to minutes. Common in Narcolepsy type 1 (NT1) is also cataplexy (in response to strong emotion) lasting for a few seconds. Narcolepsy affects night time sleep with hallucinations, distressing dreams and/or sleep paralysis. Except for cataplexy, NT2 exhibits most of the same symptoms as NT1. Most cases of narcolepsy are sporadic, rarely familial cases without clear pattern of inheritance are observed. First-degree relatives have a 40 times greater risk of developing the condition compared with the general population. In most cases narcolepsy results from a combination of genetic and environmental factors. An allele of the HLA-DQB1 locus (HLA-DQB1*06:02) is strongly associated with narcolepsy, particularly in those who also have cataplexy and a loss of hypocretins. Variations in additional genes have also been associated with narcolepsy, many of which with immune system functions, but their influence is certainly minor and theit presence is rarely demonstrated. The currently identified loci cannot explain the heritability of narcolepsy.

Reference: https://pubmed.ncbi.nlm.nih.gov/31324898/

• Allelic: Aplastic anemia (PRF1)
• Allelic: Asthma, susceptibility to (TNF)
• Allelic: Birbeck granule deficiency
• Allelic: Chondrosarcoma (EXT1)
• Allelic: Dementia, vascular, susceptibility to (TNF)
• Allelic: Exostoses, multiple, type 1 (EXT1)
• Allelic: Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
• Allelic: Lymphoma, non-Hodgkin (PRF1)
• Allelic: Malaria, cerebral, susceptibility to (TNF)
• Allelic: Migraine without aura, susceptibility to (TNF)
• Allelic: Muscular dystrophy, congenital, megaconial type (CHKB)
• Allelic: Myocardial infarction, susceptibility to (TNFSF4)
• Allelic: Nephrolithiasis, uric acid, susceptibility to (ZNF365)
• Allelic: Neuromuscular disorder, HSP AD [Lit.] (CPT1B)
• Allelic: Septic shock, susceptibility to (TNF)
• Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
• Familial case of narcolepsy + cataplexy NT1 associated with multiple exostoses (EXT1)
• NLC1A: resistance to narcolepsy (SNP)
• NRCLP1: Narcolepsy 1 [Narcoleptic syndrome 1] (HCRT)
• NRCLP2: association (D4S2987)
• NRCLP3: candidate region between (D21S267 + ABCG1)
• NRCLP4: T-to-C SNP between (CPT1B + CHKB)
• NRCLP5: 3 SNPs between TCRAJ + TRAC
• NRCLP6: susceptibility to (P2RY11)
• NRCPL7: susceptibility to (MOG)
• Narcolepsy 1 (susceptibility to; HCRT)
• Narcolepsy 2 (susceptibility to; D42987)
• Narcolepsy 3 (candidate region between D21S267 + ABCG1)
• Narcolepsy 4 (susceptibility to; T-to-C SNP, rs5770917, located between CPT1B + CHKB)
• Narcolepsy 5 (susceptibility to; 3 SNPs between TCRAJ + TRAC)
• Narcolepsy 6 (susceptibility to; SNP in 3UTR of P2RY11 gene)
• Narcolepsy 7 (susceptibility to; MOG)