Disease #00013 (HSAN (Hereditary Sensory and Autonomic Neuropathy), OMIM:201300)

Official abbreviation HSAN
Name Hereditary Sensory and Autonomic Neuropathy
OMIM ID 201300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 88
Phenotype entries for this disease -
Associated with 9 genes FAM134B, IKBKAP, NGF, NTRK1, PRNP, RAB7A, SPTLC1, SPTLC2, WNK1
Associated tissues -
Disease features -
Remarks -


Individuals

88 entries on 1 page. Showing entries 1 - 88.
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Reference     

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Variants in genes

Variants     

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00001637 Dawkins JL1, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA.(2001) - - HSAN - SPTLC1 SPTLC1 1 1 Y Yang
00001638 Dawkins JL1, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA.(2001) - - HSAN - SPTLC1 SPTLC1 1 1 Y Yang
00001639 Dawkins JL1, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA.(2001) - - HSAN - SPTLC1 SPTLC1 1 1 Y Yang
00001640 "Rotthier A1, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P(2009) - - HSAN - SPTLC1 SPTLC1 1 1 Y Yang
00001641 "Rotthier A1, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P(2009) - - HSAN - SPTLC1 SPTLC1 1 1 Y Yang
00001642 "Rotthier A1, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, L?scher W, Vondrá?ek P, Seeman P(2010) - - HSAN - SPTLC2 SPTLC2 1 1 Y Yang
00001643 "Rotthier A1, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, L?scher W, Vondrá?ek P, Seeman P(2010) - - HSAN - SPTLC2 SPTLC2 1 1 Y Yang
00001644 "Rotthier A1, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, L?scher W, Vondrá?ek P, Seeman P(2010) - - HSAN - SPTLC2 SPTLC2 1 1 Y Yang
00001645 Verhoeven K1, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V.(2003) - - HSAN - RAB7A RAB7A 1 1 Y Yang
00001646 Verhoeven K1, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V.(2003) - - HSAN - RAB7A RAB7A 1 1 Y Yang
00001647 Houlden H1, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L.(2004) - - HSAN - RAB7A RAB7A 1 1 Y Yang
00001648 Meggouh F1, Bienfait HM, Weterman MA, de Visser M, Baas F.(2006) - - HSAN - RAB7A RAB7A 1 1 Y Yang
00001649 "Slaugenhaupt SA1, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D(2001) - - HSAN - IKBKAP IKBKAP 1 1 Y Yang
00001650 "Slaugenhaupt SA1, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D(2001) - - HSAN - IKBKAP IKBKAP 1 1 Y Yang
00001651 "Blumenfeld A1, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E(1999) - - HSAN - IKBKAP IKBKAP 1 1 Y Yang
00001652 Einarsdottir E1, Carlsson A, Minde J, Toolanen G, Svensson O, Solders G, Holmgren G, Holmberg D, Holmberg M.(2004) - - HSAN - NGF NGF 1 1 Y Yang
00001653 Carvalho OP1, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JJ, Rielly M, Al-Gazali L, Woods CG.(2011) - - HSAN - NGF NGF 1 1 Y Yang
00001654 Carvalho OP1, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JJ, Rielly M, Al-Gazali L, Woods CG.(2011) - - HSAN - NGF NGF 1 1 Y Yang
00001655 Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM.(2012) - - HSAN - FAM134B FAM134B 1 1 Y Yang
00001656 Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001657 Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001658 Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001659 Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001660 Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001661 Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001662 Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001663 Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001664 Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001665 Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001666 Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001667 Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001668 Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001669 Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001670 Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001671 Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001672 Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001673 Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001674 Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001675 Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001676 Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001677 Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001678 Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001679 Houlden H1, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001680 Yotsumoto S1, Setoyama M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T.(1999) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001681 Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001682 Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001683 Mardy S1, Miura Y, Endo F, Matsuda I, Indo Y.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001684 Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001685 Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001686 Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001687 Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001688 Miura Y1, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y.(2000) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001689 Indo Y1, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I.(1996) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001690 Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001691 Bodzioch M1, Lapicka K, Aslanidis C, Kacinski M, Schmitz G.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001692 Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001693 Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001694 Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001695 Shatzky S1, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R.(2000) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001696 Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001697 Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001698 Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001699 Indo Y1, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I.(2001) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001700 Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA.(1999) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001701 Wieczorek S1, Bergstr?m J, S??f M, K?tting J, Iwarsson E.(2008) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001702 "Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001703 "Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001704 Jung CL1, Ki CS, Kim BJ, Lee JH, Sung KS, Kim JW, Park YS.(2013) - - HSAN - NTRK1 NTRK1 1 1 Y Yang
00001705 "Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012) - - HSAN - RAB7A RAB7A 1 1 Y Yang
00001706 "Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012) - - HSAN - SPTLC1 SPTLC1 1 1 Y Yang
00001707 Auer-Grumbach M1, Bode H, Pieber TR, Schabhüttl M, Fischer D, Seidl R, Graf E, Wieland T, Schuh R, Vacariu G, Grill F, Timmerman V, Strom TM, Hornemann T.(2013) - - HSAN - SPTLC1 SPTLC1 1 1 Y Yang
00001708 Suh BC1, Hong YB2, Nakhro K3, Nam SH3, Chung KW3, Choi BO2.(2014) - - HSAN - SPTLC1 SPTLC1 1 1 Y Yang
00001709 Auer-Grumbach M1, Bode H, Pieber TR, Schabhüttl M, Fischer D, Seidl R, Graf E, Wieland T, Schuh R, Vacariu G, Grill F, Timmerman V, Strom TM, Hornemann T.(2013) - - HSAN - SPTLC1 SPTLC1 1 1 Y Yang
00001710 "Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012) - - HSAN - FAM134B FAM134B 1 1 Y Yang
00001711 "Davidson G1, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M(2012) - - HSAN - FAM134B FAM134B 1 1 Y Yang
00001712 Ilgaz Aydinlar E1, Rolfs A, Serteser M, Parman Y.(2014) Turkish - HSAN - FAM134B FAM134B 1 1 Y Yang
00001713 Themistocleous AC1, Kennett R, Husain M, Palace J, Mead S, Bennett DL.(2014) - - HSAN - PRNP PRNP 1 1 Y Yang
00005586 Ernst D et al. (2015) - - HSAN - SPTLC2 SPTLC2 1 1 XY Liu
00005589 Shaikh SS et al. (2017) - - HSAN - NTRK1 NTRK1 1 1 XY Liu
00005590 Shaikh SS et al. (2017) - - HSAN - NTRK1 NTRK1 1 1 XY Liu
00005591 Shaikh SS et al. (2017) - - HSAN - NTRK1 NTRK1 1 1 XY Liu
00005592 Shaikh SS et al. (2017) - - HSAN - NTRK1 NTRK1 1 1 XY Liu
00005593 Shaikh SS et al. (2017) - - HSAN - NTRK1 NTRK1 1 1 XY Liu
00005594 Shaikh SS et al. (2017) - - HSAN - NTRK1 NTRK1 1 1 XY Liu
00005595 Shaikh SS et al. (2017) - - HSAN - NTRK1 NTRK1 1 1 XY Liu
00005597 Algahtani H et al. (2016) - - HSAN - NTRK1 NTRK1 1 1 XY Liu
00005598 Gao LH et al. (2016) - - HSAN - WNK1 WNK1 1 1 XY Liu
00005599 Yuan JH et al. (2017) - - HSAN - WNK1 WNK1 1 1 XY Liu
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