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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandChannelopathies (D053447)
Parent Node:
expandPain Insensitivity, Congenital (D000699)
..Starting node
..expandIndifference to Pain, Congenital, Autosomal Recessive (C565467)

       Child Nodes:



 Sister Nodes: 
..expandIndifference to Pain, Congenital, Autosomal Dominant (C564128)
..expandIndifference to Pain, Congenital, Autosomal Recessive (C565467)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5769
Name:Indifference to Pain, Congenital, Autosomal Recessive
Definition:
Alternative IDs:OMIM:243000
ParentIDs:MESH:D000699|MESH:D053447
TreeNumbers:C10.668.829.700/C565467 |C16.320.775/C565467 |C23.550.177/C565467
Synonyms:Asymbolia for Pain |ASYMBOLIA FOR PAIN NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED |CIP |Congenital Analgesia, Autosomal Recessive |HSAN2D, INCLUDED |Insensitivity to Pain, Channelopathy-Associated
Slim Mappings:Genetic disease (inborn)|Nervous system disease|Pathology (process)
Reference: MedGen: C565467
MeSH: C565467
OMIM: 243000;

Genes: SCN9A;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002459obsolete Dysautonomia
3 HP:0003593Infantile onset
4 HP:0000970Anhidrosis
5 HP:0000458Anosmia
6 HP:0000966Hypohidrosis
7 HP:0001265Hyporeflexia
8 HP:0004409Hyposmia
9 HP:0007021Pain insensitivity
10 HP:0002661Painless fractures due to injury
11 HP:0000020Urinary incontinence
12 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_002977.3(SCN9A):c.3993delGinsTT (p.Leu1331Phefs)-1-Pathogenic606231279RCV000192063; RCV000144933; NMedGen:C1855739,OMIM:243000,ORPHA:88642; MedGen:CN2210882167085381167085381NM_002977.3:c.3993delGinsTTNP_002968.1:p.Leu1331PhefsNC_000002.11:g.167085381delCinsAAOMIM Allelic Variant:603415.0028C1855739 243000 Indifference to pain, congenital, autosomal recessive; CN221088 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID
NM_002977.3(SCN9A):c.2691G>A (p.Trp897Ter)-1-Pathogenic121908909RCV000006727; NMedGen:C1855739,OMIM:243000,ORPHA:886422167133643167133643NM_002977.3:c.2691G>ANP_002968.1:p.Trp897TerNC_000002.11:g.167133643C>TOMIM Allelic Variant:603415.0007C1855739 243000 Indifference to pain, congenital, autosomal recessive
NM_002977.3(SCN9A):c.2690G>A (p.Trp897Ter)-1-Pathogenic794729216RCV000184036; NMedGen:C1855739,OMIM:243000,ORPHA:886422167133644167133644NM_002977.3:c.2690G>ANP_002968.1:p.Trp897TerNC_000002.11:g.167133644C>T-C1855739 243000 Indifference to pain, congenital, autosomal recessive
NM_002977.3(SCN9A):c.1376C>G (p.Ser459Ter)-1-Pathogenic121908908RCV000006725; NMedGen:C1855739,OMIM:243000,ORPHA:886422167143072167143072NM_002977.3:c.1376C>GNP_002968.1:p.Ser459TerNC_000002.11:g.167143072G>COMIM Allelic Variant:603415.0005C1855739 243000 Indifference to pain, congenital, autosomal recessive
NM_002977.3(SCN9A):c.984C>A (p.Tyr328Ter)-1-Pathogenic121908917RCV000006735; NMedGen:C1855739,OMIM:243000,ORPHA:886422167149864167149864NM_002977.3:c.984C>ANP_002968.1:p.Tyr328TerNC_000002.11:g.167149864G>TOMIM Allelic Variant:603415.0015C1855739 243000 Indifference to pain, congenital, autosomal recessive
NM_002977.3(SCN9A):c.829C>T (p.Arg277Ter)6335SCN9APathogenic121908916RCV000006734; NMedGen:C1855739,OMIM:243000,ORPHA:886422167159672167159672NM_002977.3:c.829C>TNP_002968.1:p.Arg277TerNC_000002.11:g.167159672G>AOMIM Allelic Variant:603415.0014C1855739 243000 Indifference to pain, congenital, autosomal recessive