Hyperreflexia

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

ABAT, ATXN7, TTPA, PMP22, CHRNB2, CYP7B1, UBE2T, COQ2, HTRA2, PCLO, SETD2, NDUFAF4, TBK1, PYCR2, GMPPA, PSAT1, SCAPER, KCNK4, UQCRQ, CYFIP2, TBL2, BSCL2, SACS, HIBCH, IFT172, PRPF31, ABHD12, AUTS2, CHMP2B, PARS2, NDUFAF3, TMEM186, COG4, ATXN10, FSCN2, IMPG2, EXOSC3, DSTYK, ATP8A2, LINS1, RFWD3, DARS2, MTPAP, ANO10, FANCL, NSUN2, GDAP2, VPS13C, NDE1, AHI1, GTPBP2, TMEM106B, TREM2, ERAP1, ATL1, WWOX, ZFR, LIPT1, SPG21, REEP2, PCDH12, UBAP1, GLRX5, TACO1, CHCHD2, RLIM, MECR, MLXIPL, NDUFA13, FBXO7, PRPF6, TBX4, KIF1C, FARS2, ERLIN1, PRPF8, NOP56, MERTK, MAD2L2, WARS2, TFG, APC2, SIGMAR1, STUB1, GPHN, TOPORS, ALG3, PQBP1, HUWE1, NR2E3, KIF14, AP5Z1, WASHC5, RUSC2, DNAJC6, DHX38, MATR3, FRMPD4, IFT140, RUBCN, CEP135, GTF2IRD1, AP4B1, WDR4, FANCI, PNPLA6, NUP62, ARL2BP, PIGN, AP4E1, CRB1, ATP13A2, ARHGEF18, RPGRIP1L, NCAPD3, BICD2, DDHD2, DENND5A, PLCB1, PMPCA, ANKLE2, NFASC, SPART, SETX, SNRNP200, CEP152, NT5C2, RAB3GAP1, PARK7, CHP1, ERLIN2, AP4S1, POLR3A, CIT, CLP1, VPS13D, ELP2, ZNHIT3, RFT1, ZNF513, CPT1C, WDR81, MTFMT, TTC8, ISCA2, TRAPPC6B, LRRK2, TOE1, SLC46A1, MARS2, REEP6, CDHR1, NDUFAF2, C12orf65, NDUFAF6, TMEM67, GFM1, ALG2, WDR73, ATAD1, MFSD2A, GPT2, FAM126A, NKX6-2, SLX4, RNASEH2C, FAM161A, ARL6, BRIP1, GLYCTK, HGSNAT, MAP11, JMJD8, OCLN, PET100, PRCD, ATXN8, SDHAF1, CCDC88C, ALG11, PCARE, CERKL, NDUFS7, TUBB2B, EYS, TGM6, SLC6A19, UBAC2, RDH12, WDR62, ASPM, NALCN, BRAT1, SAMD9L, C9orf72, VWA3B, IBA57, ARX, SASS6, C8orf37, SIK1, IL23R, TTBK2, JAM3, C19orf12, ISCA1, MCCC1, TRMT5, CC2D2A, KIDINS220, MYORG, SCYL1, JPH3, MCOLN1, GJC2, KNL1, RARS2, COQ9, COQ8A, PRDM8, MFF, INPP5E, CLPB, KLHL7, NDUFA12, KIZ, CENPJ, SPATA7, CDK5RAP2, CCDC88A, POLR3B, VAC14, PEX26, POMGNT1, FOXRED1, SLC29A3, CWF19L1, KIAA1549, ALS2, FANCM, GBA2, DDHD1, SLC19A3, CEP63, NUBPL, SPG11, OPA3, PGAP1, PANK2, DHDDS, TCTN2, ZNF408, ALG9, SLC25A22, NARS2, PALB2, MCPH1, NDUFAF5, MRPS34, REEP1, PINK1, NSD1, SEMA4A, IRF2BPL, IFIH1, SLC39A8, MCCC2, TRAPPC11, AGBL5, SLC7A14, PEX16, COPB2, TRIP12, GRIN1, IL12A, IL10, IGHMBP2, IDH3B, IDH3A, HSPD1, HRAS, HPRT1, HLA-B, HEXB, HTT, GUCA1B, GTF2I, GRM1, GRN, FUS, GNAQ, GM2A, GLUL, GLRB, GLRA1, GLDC, GCLC, GJA1, GCSH, GCH1, GBA, GARS1, GAMT, B4GALNT1, IMPDH1, IREB2, ITPR1, KCNA1, NDUFA4, NDUFA2, NAGA, TRNW, TRNV, TRNL1, TRNK, ND6, ND5, ND4, ND3, ND2, ND1, ATP6, ATXN3, MEFV, MECP2, MAT1A, MAPT, MAN2B1, MAK, LMNB1, LIMK1, L1CAM, KRAS, KIF5A, KCNJ6, KCND3, KCNC3, GAD1, FTL, NDUFA10, BBS2, COX10, CNGA1, CNGB1, CCR1, TPP1, CDK6, CACNA1E, CACNA1A, CA8, CA4, C4A, BRCA2, BRCA1, BCS1L, AUH, FANCG, KIF1A, ATRX, ATP6V1A, ASNS, ARSA, ARL3, FAS, AMT, AMPD2, AHR, ADCY5, ADAR, ACOX1, ABCA4, COX15, CRAT, CREBBP, CRX, FANCF, FANCB, ACSL4, FANCE, FANCD2, FANCC, FANCA, EYA1, ERCC4, ERCC3, ERCC1, EP300, ELN, EIF2S3, PHC1, ECHS1, DPAGT1, DNMT1, DYNC1I2, DLAT, DGUOK, TIMM8A, DDX3X, DDC, DCTN1, DARS1, CYP27A1, CTNNA2, CSF1R, NDUFA9, NDUFS1, ADGRG1, SPTBN2, CLRN1, USH2A, UCHL1, UBE3A, TULP1, TUB, TLR4, TAF13, TAF2, VAMP1, SURF1, ABCC8, ELOVL4, STAT4, SPTAN1, ATXN1, SPR, SPG7, SPAST, SOD1, SNCA, SLC20A2, SLC18A2, SLC16A2, SLC2A1, SLC1A4, STIL, SDHD, SDHA, SCN8A, VCP, VLDLR, BEST1, VRK1, ABCB7, LRAT, AP4M1, SLC6A5, AIFM1, PRPF3, PRPF4, BAZ1B, CACNA1G, AP1S2, SQSTM1, PROM1, PEX11B, GPAA1, CTSF, SLC25A12, PRKRA, CASK, CNTNAP1, PEX3, OFD1, PLA2G6, KLRC4, KDM5C, GAN, IFT88, AAAS, XRCC2, CLIP2, ATXN8OS, SAG, NDUFS2, PAX1, PEX14, PEX13, PEX12, PEX10, PEX6, PEX1, PDYN, PDHA1, PDGFRB, PDE6B, PDGFB, PDE6G, PDE6A, CHMP1A, PRKN, RTN2, PAH, OPA1, NTRK2, NRL, NRAS, NEU1, NEK2, NEK1, NEFH, NDUFV2, NDUFS8, NDUFS4, NDUFV1, NDUFS3, PIGA, PLG, PLP1, EXOSC9, RPE65, RPGR, RP2, RP1, RP9, ROM1, RLBP1, RHO, RGR, RFC2, PRPH2, RBP3, RARS1, RAD51C, RAD51, ALDH18A1, PEX5, PEX2, PEX19, PTS, PSEN1, PSAP, HTRA1, PRPH, PRNP, PRKCG, PPP3CA, PPP2R2B, PODXL, IL12A-AS1

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Parke et al. (1984) reported a family in which hyperreflexia appeared to be an autosomal dominant trait, perhaps linked to the Kell blood group locus (110900), which maps to chromosome 7q. A lod score of 1.806 at theta = 0.00 was obtained. The family was ascertained through 2 brothers with severe microcephaly, unusual retinal pigmentary anomalies, and average or low normal intelligence. The normal intelligence and the character of the retinal changes distinguished the disorder in the brothers from that described in entry 251270 (microcephaly with chorioretinopathy). The hyperreflexia was accompanied by ankle clonus but 'down-going toes' on Babinski test and no symptomatic neurologic dysfunction.