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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary sensory neuropathy
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Accession:DOID:0050548 term browser browse the term
Definition:A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)
Synonyms:exact_synonym: Congenital Sensory Neuropathy;   Giaccai Type Acroosteolysis;   HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY;   HSAN;   HSAN (hereditary sensory autonomic neuropathy);   congenital sensory neuropathies;   hereditary sensory and autonomic neuropathies;   hereditary sensory neuropathies;   hereditary sensory radicular neuropathy;   hereditary sensory radicular neuropathy, autosomal dominant;   hereditary sensory radicular neuropathy, autosomal recessive;   hereditary sensory radicular neuropathy, recessive form
 narrow_synonym: AMS;   acral mutilation syndrome
 primary_id: MESH:D009477
 alt_id: OMIA:001514;   RDO:0000851
 xref: OMIM:PS162400
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary sensory neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cct4 chaperonin containing TCP1 subunit 4 JBrowse link 14 107,767,392 107,780,270 RGD:1299607
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:9588627
RGD:11554173
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:13592920
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:12911225
RGD:8554872
RGD:12911226
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:11554173
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:5684543
RGD:8554872
RGD:11554173
RGD:5684770
RGD:5684769
RGD:5684767
RGD:5684544
G Retreg1 reticulophagy regulator 1 JBrowse link 2 78,391,921 78,401,569 RGD:11554173
G Scn11a sodium voltage-gated channel alpha subunit 11 JBrowse link 8 128,450,793 128,527,510 RGD:13592920
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:7240710
RGD:8554872
hereditary sensory and autonomic neuropathy type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 JBrowse link 17 11,856,525 11,895,566 RGD:8554872
hereditary sensory and autonomic neuropathy type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 JBrowse link 17 11,856,525 11,895,566 RGD:7240710
RGD:8554872
hereditary sensory and autonomic neuropathy type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahsa1 activator of Hsp90 ATPase activity 1 JBrowse link 6 111,296,168 111,304,224 RGD:8554872
G Gstz1 glutathione S-transferase zeta 1 JBrowse link 6 111,176,798 111,187,246 RGD:8554872
G Ism2 isthmin 2 JBrowse link 6 111,309,054 111,329,967 RGD:8554872
G Noxred1 NADP-dependent oxidoreductase domain containing 1 JBrowse link 6 111,243,232 111,271,107 RGD:8554872
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
G Samd15 sterile alpha motif domain containing 15 JBrowse link 6 111,223,026 111,241,326 RGD:8554872
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 JBrowse link 6 111,334,408 111,417,960 RGD:7240710
RGD:8554872
G Tmed8 transmembrane p24 trafficking protein family member 8 JBrowse link 6 111,188,938 111,222,866 RGD:8554872
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog JBrowse link 6 111,271,283 111,296,013 RGD:8554872
hereditary sensory and autonomic neuropathy type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Rad52 RAD52 homolog, DNA repair protein JBrowse link 4 152,429,826 152,451,875 RGD:8554872
G Retreg1 reticulophagy regulator 1 JBrowse link 2 78,391,921 78,401,569 RGD:8554872
G Wnk1 WNK lysine deficient protein kinase 1 JBrowse link 4 152,452,211 152,578,469 RGD:8554872
hereditary sensory and autonomic neuropathy type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
RGD:11554173
G Retreg1 reticulophagy regulator 1 JBrowse link 2 78,391,921 78,401,569 RGD:8554872
RGD:11554173
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:11554173
RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Wnk1 WNK lysine deficient protein kinase 1 JBrowse link 4 152,452,211 152,578,469 RGD:7240710
RGD:8554872
hereditary sensory and autonomic neuropathy type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Retreg1 reticulophagy regulator 1 JBrowse link 2 78,391,921 78,401,569 RGD:7240710
RGD:8554872
hereditary sensory and autonomic neuropathy type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:8554872
RGD:7240710
hereditary sensory and autonomic neuropathy type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:7240710
RGD:8554872
hereditary sensory and autonomic neuropathy type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn11a sodium voltage-gated channel alpha subunit 11 JBrowse link 8 128,450,793 128,527,510 RGD:7240710
RGD:8554872
hereditary sensory and autonomic neuropathy type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm12 PR/SET domain 12 JBrowse link 3 10,181,104 10,199,185 RGD:7240710
RGD:8554872
hereditary sensory neuropathy type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atl1 atlastin GTPase 1 JBrowse link 6 92,229,764 92,370,428 RGD:7240710
RGD:8554872
hereditary sensory neuropathy type 1E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:7240710
RGD:8554872
hereditary sensory neuropathy type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atl3 atlastin GTPase 3 JBrowse link 1 222,746,023 222,788,439 RGD:7240710
RGD:8554872
hereditary sensory neuropathy type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:7240710
RGD:8554872
hereditary sensory neuropathy type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insrr insulin receptor-related receptor JBrowse link 2 187,161,817 187,181,400 RGD:8554872
G Ntrk1 neurotrophic receptor tyrosine kinase 1 JBrowse link 2 187,143,568 187,160,373 RGD:7240710
RGD:8554872
Riley-Day syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp1 elongator complex protein 1 JBrowse link 5 73,503,406 73,552,798 RGD:5129156
RGD:8554872
RGD:7240710
RGD:5129155

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        Nervous System Malformations 742
          hereditary sensory neuropathy 29
            CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
            Cervical Hypertrichosis Neuropathy 0
            Hamanishi Ueba Tsuji Syndrome 0
            Hereditary Sensory and Autonomic Neuropathy, Adult-Onset, with Anosmia 0
            Riley-Day syndrome + 1
            atypical hereditary sensory neuropathy 0
            hereditary sensory and autonomic neuropathy type 1 + 13
            hereditary sensory and autonomic neuropathy type 2 + 7
            hereditary sensory and autonomic neuropathy type 5 1
            hereditary sensory and autonomic neuropathy type 6 1
            hereditary sensory and autonomic neuropathy type 7 1
            hereditary sensory and autonomic neuropathy type 8 1
            hereditary sensory neuropathy X-linked 0
            hereditary sensory neuropathy type 4 2
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          neurodegenerative disease 2694
            Nervous System Heredodegenerative Disorders 1720
              hereditary sensory neuropathy 29
                CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
                Cervical Hypertrichosis Neuropathy 0
                Hamanishi Ueba Tsuji Syndrome 0
                Hereditary Sensory and Autonomic Neuropathy, Adult-Onset, with Anosmia 0
                Riley-Day syndrome + 1
                atypical hereditary sensory neuropathy 0
                hereditary sensory and autonomic neuropathy type 1 + 13
                hereditary sensory and autonomic neuropathy type 2 + 7
                hereditary sensory and autonomic neuropathy type 5 1
                hereditary sensory and autonomic neuropathy type 6 1
                hereditary sensory and autonomic neuropathy type 7 1
                hereditary sensory and autonomic neuropathy type 8 1
                hereditary sensory neuropathy X-linked 0
                hereditary sensory neuropathy type 4 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.