Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Pain (D010146)
..Starting node ..Paroxysmal Extreme Pain Disorder (C563475)
Child Nodes:
Sister Nodes:
..Abdominal Pain (D015746) 4
..Acute Pain (D059787)
..Arthralgia (D018771) 1
..Back Pain (D001416) 2
..Breakthrough Pain (D059390)
..Chest Pain (D002637) 7
..Chronic Pain (D059350)
..Earache (D004433)
..Eye Pain (D058447)
..Facial Pain (D005157) 1
..Flank Pain (D021501)
..Glossalgia (D005926)
..Headache (D006261) 2
..Labor Pain (D048949)
..Levator syndrome (C535890)
..Mastodynia (D059373)
..Metatarsalgia (D037061)
..Musculoskeletal Pain (D059352) 2
..Neck Pain (D019547)
..Neuralgia (D009437) 6
..Neuropathy, Painful (C564945)
..Nociceptive Pain (D059226) 1
..Pain, Intractable (D010148)
..Pain, Postoperative (D010149) 1
..Pain, Referred (D053591)
..Paroxysmal Extreme Pain Disorder (C563475)
..Pelvic Pain (D017699) 4
..Shoulder Pain (D020069)
..Slit Ventricle Syndrome (D056124)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8687

Name:

Paroxysmal Extreme Pain Disorder

Definition:

Alternative IDs:

OMIM:167400

ParentIDs:

MESH:D010146

TreeNumbers:

C10.597.617/C563475 |C23.888.592.612/C563475 |C23.888.646/C563475

Synonyms:

Slim Mappings:

Nervous system disease|Signs and symptoms

Reference:

MedGen: C563475
MeSH: C563475
OMIM: 167400;

Genes: SCN9A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003623	Neonatal onset
3	HP:0500005	Anal pain
4	HP:0001662	Bradycardia
5	HP:0007328	Impaired pain sensation
6	HP:0000632	Lacrimation abnormality
7	HP:0200025	Mandibular pain
8	HP:0200026	Ocular pain
9	HP:0001649	Tachycardia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002977.3(SCN9A):c.4391C>T (p.Thr1464Ile)	-1	-	Pathogenic	121908915	RCV000006733;	N	MedGen:C1833661,OMIM:167400,ORPHA:46348	2	167060949	167060949	NM_002977.3:c.4391C>T	NP_002968.1:p.Thr1464Ile	NC_000002.11:g.167060949G>A	OMIM Allelic Variant:603415.0013	C1833661 167400 Paroxysmal extreme pain disorder
NM_002977.3(SCN9A):c.4382T>C (p.Ile1461Thr)	-1	-	Pathogenic	121908914	RCV000006732;	N	MedGen:C1833661,OMIM:167400,ORPHA:46348	2	167060958	167060958	NM_002977.3:c.4382T>C	NP_002968.1:p.Ile1461Thr	NC_000002.11:g.167060958A>G	OMIM Allelic Variant:603415.0012	C1833661 167400 Paroxysmal extreme pain disorder
NM_002977.3(SCN9A):c.3895G>T (p.Val1299Phe)	-1	-	Pathogenic	121908913	RCV000006731;	N	MedGen:C1833661,OMIM:167400,ORPHA:46348	2	167085479	167085479	NM_002977.3:c.3895G>T	NP_002968.1:p.Val1299Phe	NC_000002.11:g.167085479C>A	OMIM Allelic Variant:603415.0011	C1833661 167400 Paroxysmal extreme pain disorder
NM_002977.3(SCN9A):c.3893T>A (p.Val1298Asp)	-1	-	Pathogenic	121908911	RCV000006729;	N	MedGen:C1833661,OMIM:167400,ORPHA:46348	2	167085481	167085481	NM_002977.3:c.3893T>A	NP_002968.1:p.Val1298Asp	NC_000002.11:g.167085481A>T	OMIM Allelic Variant:603415.0009	C1833661 167400 Paroxysmal extreme pain disorder
NM_002977.3(SCN9A):c.3892G>T (p.Val1298Phe)	-1	-	Pathogenic	121908912	RCV000006730;	N	MedGen:C1833661,OMIM:167400,ORPHA:46348	2	167085482	167085482	NM_002977.3:c.3892G>T	NP_002968.1:p.Val1298Phe	NC_000002.11:g.167085482C>A	OMIM Allelic Variant:603415.0010	C1833661 167400 Paroxysmal extreme pain disorder
NM_002977.3(SCN9A):c.2986C>T (p.Arg996Cys)	-1	-	Pathogenic	121908910	RCV000006728;	N	MedGen:C1833661,OMIM:167400,ORPHA:46348	2	167129241	167129241	NM_002977.3:c.2986C>T	NP_002968.1:p.Arg996Cys	NC_000002.11:g.167129241G>A	OMIM Allelic Variant:603415.0008	C1833661 167400 Paroxysmal extreme pain disorder
NM_000223.3(KRT12):c.1285T>G (p.Tyr429Asp)	3859	KRT12	Pathogenic	58162394	RCV000008387; RCV000056412;	N	MedGen:C0339277,OMIM:122100,ORPHA:98954,SNOMED CT:1674008; MedGen:CN221809	17	39019406	39019406	NM_000223.3:c.1285T>G	NP_000214.1:p.Tyr429Asp	NC_000017.10:g.39019406A>C	OMIM Allelic Variant:601687.0005	C0339277 122100 Meesman's corneal dystrophy; CN221809 not provided; C1833661 167400 Paroxysmal extreme pain disorder
NM_000223.3(KRT12):c.427G>C (p.Val143Leu)	3859	KRT12	Pathogenic	58343600	RCV000008384; RCV000056426;	N	MedGen:C0339277,OMIM:122100,ORPHA:98954,SNOMED CT:1674008; MedGen:CN221809	17	39023012	39023012	NM_000223.3:c.427G>C	NP_000214.1:p.Val143Leu	NC_000017.10:g.39023012C>A,NC_000017.10:g.39023012C>G	OMIM Allelic Variant:601687.0002	C0339277 122100 Meesman's corneal dystrophy; CN221809 not provided; C1833661 167400 Paroxysmal extreme pain disorder
NM_000223.3(KRT12):c.419T>G (p.Leu140Arg)	3859	KRT12	Pathogenic	58918655	RCV000008388; RCV000056425;	N	MedGen:C0339277,OMIM:122100,ORPHA:98954,SNOMED CT:1674008; MedGen:CN221809	17	39023020	39023020	NM_000223.3:c.419T>G	NP_000214.1:p.Leu140Arg	NC_000017.10:g.39023020A>C	OMIM Allelic Variant:601687.0006	C0339277 122100 Meesman's corneal dystrophy; CN221809 not provided; C1833661 167400 Paroxysmal extreme pain disorder
NM_000223.3(KRT12):c.404G>C (p.Arg135Thr)	3859	KRT12	Pathogenic	57218384	RCV000008383; RCV000056421;	N	MedGen:C0339277,OMIM:122100,ORPHA:98954,SNOMED CT:1674008; MedGen:CN221809	17	39023035	39023035	NM_000223.3:c.404G>C	NP_000214.1:p.Arg135Thr	NC_000017.10:g.39023035C>A,NC_000017.10:g.39023035C>G	OMIM Allelic Variant:601687.0001	C0339277 122100 Meesman's corneal dystrophy; CN221809 not provided; C1833661 167400 Paroxysmal extreme pain disorder
NM_000223.3(KRT12):c.404G>T (p.Arg135Ile)	3859	KRT12	Pathogenic	57218384	RCV000008386; RCV000056422;	N	MedGen:C0339277,OMIM:122100,ORPHA:98954,SNOMED CT:1674008; MedGen:CN221809	17	39023035	39023035	NM_000223.3:c.404G>T	NP_000214.1:p.Arg135Ile	NC_000017.10:g.39023035C>A,NC_000017.10:g.39023035C>G	OMIM Allelic Variant:601687.0004	C0339277 122100 Meesman's corneal dystrophy; CN221809 not provided; C1833661 167400 Paroxysmal extreme pain disorder
NM_000223.3(KRT12):c.403A>G (p.Arg135Gly)	3859	KRT12	Pathogenic	58410481	RCV000008385; RCV000056420;	N	MedGen:C0339277,OMIM:122100,ORPHA:98954,SNOMED CT:1674008; MedGen:CN221809	17	39023036	39023036	NM_000223.3:c.403A>G	NP_000214.1:p.Arg135Gly	NC_000017.10:g.39023036T>C	OMIM Allelic Variant:601687.0003	C0339277 122100 Meesman's corneal dystrophy; CN221809 not provided; C1833661 167400 Paroxysmal extreme pain disorder
NM_000223.3(KRT12):c.386T>C (p.Met129Thr)	3859	KRT12	Pathogenic	28936695	RCV000008389; RCV000056417;	N	MedGen:C0339277,OMIM:122100,ORPHA:98954,SNOMED CT:1674008; MedGen:CN221809	17	39023053	39023053	NM_000223.3:c.386T>C	NP_000214.1:p.Met129Thr	NC_000017.10:g.39023053A>G	OMIM Allelic Variant:601687.0007	C0339277 122100 Meesman's corneal dystrophy; CN221809 not provided; C1833661 167400 Paroxysmal extreme pain disorder
NM_057088.2(KRT3):c.1525G>A (p.Glu509Lys)	3850	KRT3	Pathogenic	57872071	RCV000015738; RCV000057204;	N	MedGen:C0339277,OMIM:122100,ORPHA:98954,SNOMED CT:1674008; MedGen:CN221809	12	53185000	53185000	NM_057088.2:c.1525G>A	NP_476429.2:p.Glu509Lys	NC_000012.11:g.53185000C>T	OMIM Allelic Variant:148043.0001	C0339277 122100 Meesman's corneal dystrophy; CN221809 not provided; C1833661 167400 Paroxysmal extreme pain disorder
NM_057088.2(KRT3):c.1508G>C (p.Arg503Pro)	3850	KRT3	Pathogenic	60410063	RCV000118978; RCV000057203;	N	MedGen:C0339277,OMIM:122100,ORPHA:98954,SNOMED CT:1674008; MedGen:CN221809	12	53185017	53185017	NM_057088.2:c.1508G>C	NP_476429.2:p.Arg503Pro	NC_000012.11:g.53185017C>G	OMIM Allelic Variant:148043.0002	C0339277 122100 Meesman's corneal dystrophy; CN221809 not provided; C1833661 167400 Paroxysmal extreme pain disorder
NM_057088.2(KRT3):c.1493A>T (p.Glu498Val)	3850	KRT3	Pathogenic	267607431	RCV000118979; RCV000057202;	N	MedGen:C0339277,OMIM:122100,ORPHA:98954,SNOMED CT:1674008; MedGen:CN221809	12	53185032	53185032	NM_057088.2:c.1493A>T	NP_476429.2:p.Glu498Val	NC_000012.11:g.53185032T>A	OMIM Allelic Variant:148043.0003	C0339277 122100 Meesman's corneal dystrophy; CN221809 not provided; C1833661 167400 Paroxysmal extreme pain disorder
NM_002977.3(SCN9A):c.554G>A (p.Arg185His)	6335	SCN9A	Likely benign;Pathogenic	73969684	RCV000144931; RCV000144930; RCV000178871;	N	MedGen:C1833661,OMIM:167400,ORPHA:46348; MedGen:C3276709; MedGen:CN169374	2	167162344	167162344	NM_002977.3:c.554G>A	NP_002968.1:p.Arg185His	NC_000002.11:g.167162344C>T	OMIM Allelic Variant:603415.0026	CN169374 not specified; C1833661 167400 Paroxysmal extreme pain disorder; C3276709 Small fiber neuropathy