Narcolepsy 7

Watchlist

(log in to enable)

Retrieved

2019-09-22

Source

Omim

Trials

—

Genes

HLA-DQB1, HCRT, HLA-DRB1, MOG, HCRTR2, P2RY11, CTSH, ZNF365, CPT1B, CHKB, TRA, EIF3G, TNFSF4, TAC1, TRH, PENK, SOCS2, HLA-DQA1, DNMT1, PPAN, PPAN-P2RY11, CHKB-CPT1B, MAP3K7, NOTCH4, HLA-DQA2, NRXN1, ANO3, TMEM108, TBL1XR1, COLGALT1, ZYG11B, GALNT14, MMP26, MRPL24, JPH1, NUP37, FSTL5, SLC28A3, CA10, LYRM4, ADAMTSL3, TENM2, LRRC7, WDR48, DPP10, LRRN1, VAT1L, LRRC4C, ASIC2, RBFOX1, BTNL2, OXR1, AGTR1, CACNG2, TSBP1, NPFFR2, TCERG1, POLI, KLF12, MRAS, DENND3, ATF6, PALLD, SWAP70, TMEM131L, MTUS2, SRGAP2, DDAH1, KCNE4, TANC2, AK5, PDE7B, BBS9, RBMS3, REM1, NXPH1, NOX4, PHF20, DYNC2LI1, FHOD3, CDKAL1, ZNF385D, SERAC1, CCDC68, LINC00687, ZEB1-AS1, FAM171A1, NT5DC1, SDK1, LINC01619, HS6ST3, SUMF1, IQCM, HLA-F-AS1, NKAIN3, FREM2, RPS10P7, CATSPER4, SHC4, DCDC2C, GLIS3, MAPT-AS1, C9orf92, LINC00861, ATP5MC1P6, HOXD-AS2, SPRY4-AS1, LINC01847, LINC01687, LINC01182, TSBP1-AS1, LINC01500, LINC02336, LINC01839, LINC02511, CEP112, TOGARAM2, CYB5B, ANTXR2, ITCH, ACSS1, PYROXD2, ELMO1, ERI1, ALKBH8, SNX29, SHKBP1, FOXP2, PIK3IP1, TRIM9, CSMD3, TMEM132B, C8orf34, PIK3AP1, MDGA2, AGBL1, HSD3BP4, RBM45, EGFLAM, HINT3, UBXN2B, UNC5D, FAUP1, SUN5, FRMPD2, PLB1, LINC00691, NKAIN2, LINC00964, RAD50, FRY, LINC02248, SFRP1, PSMA5, PSMB9, EPHB1, EDNRA, RIT2, RYR2, DPYD, DPP6, PRCP, DNAH8, SLC18A2, STIM1, TAP1, TAP2, TF, TIAM1, FGF10, PPARA, MCC, GRM5, HLA-F, HLA-DRB9, NFRKB, HLA-DRA, HLA-DQB2, HLA-DOB, GRM8, GRID1, GPC5, GNAO1, GABRG3, FXN, FOLR1, PDE4B, FHIT, SERPINB5, TJP1, ITGA3, DHODH, CTNND2, RNGTT, KALRN, BLMH, BCR, MAGI1, DLGAP2, DLGAP1, NDST3, AKAP6, ATG5, ATP2B2, ASTN1, MICAL2, HDAC9, JAKMIP2, NOL4, DCHS1, BARX2, CTNNA2, SERPING1, H2AC6, SLC14A2, EPM2A, CDK8, CENPC, DAP3, VDR, CILP, VAV2, COL14A1, VAV1, TNF, COMT, HLA-DRB5, HRH3, CCR3, P2RX5-TAX1BP3, ATXN3, P2RY2, P2RY1, P2RX5, P2RX4, TNFRSF1B, P2RX3, P2RX1, TRIB2, P2RX7, P2RX2, P2RX6, LEP, HCRTR1, PSG5, HLA-A, PICSAR, HLA-DPB1, MX2, NFATC2, TAAR1, TNFRSF1A, MIR30C2, SLC6A2, LINC00163, SLC6A3, MIR320A, SKOR1, ZGLP1, MIR130A, MIR30C1, TRAC, CSF3, CRP, TRAJ60, TRAV29DV5, MIR4455, GDNF-AS1, CCR1, SLC17A5, FGF21, CD40LG, SMUG1, CLOCK, ABCG1, SALL4, CIITA, RANGAP1, NAA50, ABCC9, CXCL8, IFNG, IFNA17, IFNA13, IFNA2, IFNA1, IFN1@, HTR2A, MS, FAM3D, CD200R1, HLA-DRB4, HDC, PTPRD, EHMT1, GLP1R, FBXO15, GHRH, GH1, GDNF, GCG, GAD2, MAOA, PRKN, PDYN, POLE, QRFP, CCS

Drugs

Mazindol, Modafinil ( MODAFINIL AZWELL INC, MODIODAL, PROVIGIL ), Pitolisant ( WAKIX )

Mazindol, Modafinil ( MODAFINIL AZWELL INC, MODIODAL, PROVIGIL ), Pitolisant ( WAKIX ), Sodium oxybate ( XYREM ), Solriamfetol ( SUNOSI )

Interested in hearing about new therapies?

A number sign (#) is used with this entry because of evidence that narcolepsy-7 (NRCLP7) is caused by heterozygous mutation in the MOG gene (159465) on chromosome 6p22. One such family has been reported.

For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see 161400.

Clinical Features

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; 602358) levels in cerebrospinal fluid were undetectable in those tested.

Inheritance

The transmission pattern of narcolepsy in the family reported by Hor et al. (2011) was consistent with autosomal dominant inheritance.

Molecular Genetics

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). All 11 affected members studied and 1 who did not completely fulfill the diagnostic criteria for narcolepsy carried the mutation, whereas all 14 unaffected family members studied did not have the mutation. Based on these findings, the authors suggested a major role for myelin and oligodendrocytes in narcolepsy.