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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Congenital Pain Insensitivity
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Accession:DOID:9008482 term browser browse the term
Definition:A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)
Synonyms:exact_synonym: Congenital Indifference to Pain;   Congenital Insensitivity To Pain;   PAIN INSENSITIVITY;   channelopathy-associated insensitivity to pain;   congenital analgesia;   congenital pain indifference;   congenital pain indifferences
 primary_id: MESH:D000699
 alt_id: RDO:0004821
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Pain Insensitivity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Pain insensitivity ClinVar PMID:9653161, PMID:10677299, PMID:10995508, PMID:11078571, PMID:11175299, PMID:15521979, PMID:15670717, PMID:15805162, PMID:16497572, PMID:17965227, PMID:19390132, PMID:20301322, PMID:20556518, PMID:23293579, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Prdm12 PR/SET domain 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26005867 NCBI chr 3:10,181,104...10,199,185
Ensembl chr 3:10,181,924...10,196,626
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036948 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Congenital Indifference to Pain
ClinVar Annotator: match by term: Pain insensitivity
ClinVar PMID:374104, PMID:21698661, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
hereditary sensory and autonomic neuropathy type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngf nerve growth factor ISO ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers ClinVar
OMIM
PMID:14976160, PMID:15131306, PMID:18420729, PMID:19038341, PMID:19945432, PMID:20978020, PMID:21358750, PMID:21387003, PMID:22330829, PMID:25741868, PMID:26215504, PMID:28492532 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers ClinVar PMID:24207120, PMID:25741868 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link
hereditary sensory neuropathy type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar NCBI chr 2:187,161,817...187,181,400
Ensembl chr 2:187,162,017...187,181,395
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: HSAN 4
ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV
ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II
OMIM
ClinVar
PMID:77656, PMID:0233776, PMID:8696348, PMID:10090906, PMID:10233776, PMID:10330344, PMID:10443680, PMID:10861667, PMID:10982191, PMID:11071380, PMID:11139246, PMID:11159935, PMID:11310631, PMID:11668614, PMID:11719521, PMID:11748840, PMID:12210794, PMID:12406349, PMID:12949319, PMID:15534759, PMID:16373086, PMID:18056464, PMID:18179783, PMID:18322713, PMID:19250380, PMID:19598235, PMID:19618435, PMID:19651702, PMID:20003389, PMID:21708027, PMID:22032467, PMID:22302274, PMID:22397633, PMID:22653642, PMID:22957891, PMID:23112235, PMID:23241418, PMID:23799134, PMID:24088041, PMID:24154508, PMID:25359976, PMID:25741868, PMID:26215504, PMID:26467025, PMID:26633545, PMID:27058611, PMID:27265460, PMID:27544236, PMID:27551041, PMID:27676246, PMID:27698470, PMID:28192073, PMID:28328124, PMID:28345382, PMID:28492532, PMID:28981924, PMID:29619836, PMID:29770739, PMID:30774415, PMID:32214227 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
Indifference to Pain, Congenital, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive
ClinVar Annotator: match by OMIM:243000
OMIM
ClinVar
PMID:15955112, PMID:17167479, PMID:17470132, PMID:18414213, PMID:18518989, PMID:19369487, PMID:19763161, PMID:21094958, PMID:21698661, PMID:21939494, PMID:22035805, PMID:22136189, PMID:22539570, PMID:22604722, PMID:22826602, PMID:22995991, PMID:23129781, PMID:23280954, PMID:23292638, PMID:23450472, PMID:23874707, PMID:23895530, PMID:24033266, PMID:24088041, PMID:24776970, PMID:24817410, PMID:24820863, PMID:24848745, PMID:25250524, PMID:25253744, PMID:25316021, PMID:25326635, PMID:25333069, PMID:25741868, PMID:25852444, PMID:25993546, PMID:26264438, PMID:26284228, PMID:26392352, PMID:26467025, PMID:26633545, PMID:26675522, PMID:26920677, PMID:27504264, PMID:27843123, PMID:27884173, PMID:27956748, PMID:28073787, PMID:28235406, PMID:28440294, PMID:28492532, PMID:29176367, PMID:29264398, PMID:29358611, PMID:29500686, PMID:29911575, PMID:30311386, PMID:30316835, PMID:30642272, PMID:30834459 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
ClinVar
OMIM
PMID:18265945, PMID:22065775, PMID:23242139, PMID:23907125, PMID:24262437, PMID:24267886, PMID:24911145, PMID:25356970, PMID:25741868, PMID:26823519, PMID:26847329, PMID:27479843, PMID:28135719, PMID:28343630, PMID:28852847, PMID:29752822, PMID:30216591, PMID:30388424 NCBI chr10:72,909,550...72,945,884
Ensembl chr10:72,909,550...72,945,884
JBrowse link
Marsili syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Impaired thermal sensitivity ClinVar PMID:28492532, PMID:32581362 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
JBrowse link
G Thtpa thiamine triphosphatase ISO ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant ClinVar PMID:29253101 NCBI chr15:33,755,157...33,759,117
Ensembl chr15:33,755,478...33,759,115
JBrowse link
G Zfhx2 zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant ClinVar
OMIM
PMID:29253101 NCBI chr15:33,719,313...33,752,665
Ensembl chr15:33,720,701...33,752,665
JBrowse link

Term 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.