PedAM

Pediatric Disease Annotations & Medicines


	erythromelalgia

Disease ID	35
Disease	erythromelalgia
Definition	A peripheral arterial disease that is characterized by the triad of ERYTHEMA, burning PAIN, and increased SKIN TEMPERATURE of the extremities (or red, painful extremities). Erythromelalgia may be classified as primary or idiopathic, familial or non-familial. Secondary erythromelalgia is associated with other diseases, the most common being MYELOPROLIFERATIVE DISORDERS.
Synonym	erythermalgia erythermalgias erythralgia erythromelalgia (disorder) erythromelalgia [disease/finding] erythromelalgias gerhardt disease mitchell disease weir mitchell syndrome weir mitchell's disease
Orphanet	ORPHANET:1956
DOID	DOID:9240
ICD10	ICD10CM:I73.81
UMLS	C0014804
MeSH	D004916
SNOMED-CT	SNOMEDCT_US_2016_09_01:37151006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0003873 \| rheumatoid arthritis \| 1 C0836924 \| thrombocythemia \| 1 C0020538 \| hypertension \| 1 C0023343 \| hansen's disease \| 1 C0031117 \| peripheral neuropathy \| 1 C0027022 \| myeloproliferative disease \| 1 C0442874 \| neuropathy \| 1 C0270921 \| axonal neuropathy \| 1 C0027022 \| myeloproliferative disorders \| 1 C0003864 \| arthritis \| 1 C0678222 \| breast carcinoma \| 1 C0027022 \| myeloproliferative disorder \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) SCN9A \| 6335 \| CTD_human;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:34) 6583 \| SLC22A4 \| DISEASES 7066 \| THPO \| DISEASES 3053 \| SERPIND1 \| DISEASES 80218 \| NAA50 \| DISEASES 5184 \| PEPD \| DISEASES 967 \| CD63 \| DISEASES 7450 \| VWF \| DISEASES 8989 \| TRPA1 \| DISEASES 10578 \| GNLY \| DISEASES 10898 \| CPSF4 \| DISEASES 57465 \| TBC1D24 \| DISEASES 5473 \| PPBP \| DISEASES 5196 \| PF4 \| DISEASES 11280 \| SCN11A \| DISEASES 10938 \| EHD1 \| DISEASES 6330 \| SCN4B \| DISEASES 56478 \| EIF4ENIF1 \| DISEASES 6331 \| SCN5A \| DISEASES 286826 \| LIN9 \| DISEASES 3716 \| JAK1 \| DISEASES 6334 \| SCN8A \| DISEASES 5742 \| PTGS1 \| DISEASES 89796 \| NAV1 \| DISEASES 4803 \| NGF \| DISEASES 8813 \| DPM1 \| DISEASES 7056 \| THBD \| DISEASES 57126 \| CD177 \| DISEASES 51360 \| MBTPS2 \| DISEASES 3717 \| JAK2 \| DISEASES 7442 \| TRPV1 \| DISEASES 6335 \| SCN9A \| DISEASES 6336 \| SCN10A \| DISEASES 6329 \| SCN4A \| DISEASES 162514 \| TRPV3 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) SCN9A \| 2q24.3

Disease ID	35
Disease	erythromelalgia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:8) HP:0002205 \| Recurrent respiratory infections HP:0000989 \| Pruritus HP:0001872 \| Abnormality of thrombocytes HP:0002045 \| Hypothermia HP:0002633 \| Vasculitis HP:0001909 \| Leukemia HP:0009830 \| Peripheral neuropathy HP:0010783 \| Erythema
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:13) HP:0012531 \| Pain \| 3 HP:0009830 \| Peripheral neuritis \| 1 HP:0003477 \| Peripheral axonal neuropathy \| 1 HP:0010783 \| Erythema \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0000822 \| Hypertension \| 1 HP:0001063 \| Acrocyanosis \| 1 HP:0005547 \| Myeloproliferative disorder \| 1 HP:0007002 \| Motor axonal neuropathy \| 1 HP:0001820 \| Leukonychia \| 1 HP:0003401 \| Paresthesia \| 1 HP:0001369 \| Arthritis \| 1 HP:0001370 \| Rheumatoid arthritis \| 1

Disease ID	35
Disease	erythromelalgia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:6) C2598155 \| pain C0278140 \| severe pain C0040028 \| primary thrombocythemia C0037284 \| skin lesions C0032463 \| polycythemia vera C0030200 \| intractable pain
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0030193 \| pain \| 3

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs375828897	20033988	6335	SCN9A	umls:C0014804	BeFree	In studies on a family with inherited erythromelalgia associated with Na(V)1.7 gain-of-function mutation A863P, we identified a nonsynonymous single-nucleotide polymorphism within SCN9A in the affected proband and several unaffected family members; this polymorphism (c. 3448C&T, Single Nucleotide Polymorphisms database rs6746030, which produces the amino acid substitution R1150W in human Na(V)1.7 [hNa(V)1.7]) is present in 1.1 to 12.7% of control chromosomes, depending on ethnicity.	0.262860706	2009	SCN9A;LOC101929680	2	166242645	T	A
rs6746030	20033988	6335	SCN9A	umls:C0014804	BeFree	In studies on a family with inherited erythromelalgia associated with Na(V)1.7 gain-of-function mutation A863P, we identified a nonsynonymous single-nucleotide polymorphism within SCN9A in the affected proband and several unaffected family members; this polymorphism (c. 3448C&T, Single Nucleotide Polymorphisms database rs6746030, which produces the amino acid substitution R1150W in human Na(V)1.7 [hNa(V)1.7]) is present in 1.1 to 12.7% of control chromosomes, depending on ethnicity.	0.262860706	2009	SCN9A;LOC101929680	2	166242648	A	G
rs80356470	17008310	6335	SCN9A	umls:C0014804	BeFree	Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating.	0.262860706	2006	SCN9A	2	166303270	A	T
rs80356473	19800314	6335	SCN9A	umls:C0014804	BeFree	Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.	0.262860706	2009	SCN9A;LOC101929680	2	166278156	A	C
rs80356475	24401712	6335	SCN9A	umls:C0014804	BeFree	Dynamic-clamp analysis of wild-type human Nav1.7 and erythromelalgia mutant channel L858H.	0.262860706	2014	SCN9A;LOC101929680	2	166277251	A	T
rs80356476	17239250	6335	SCN9A	umls:C0014804	BeFree	Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7.	0.262860706	2007	SCN9A;LOC101929680	2	166277252	G	A
rs80356477	20033988	6335	SCN9A	umls:C0014804	BeFree	In studies on a family with inherited erythromelalgia associated with Na(V)1.7 gain-of-function mutation A863P, we identified a nonsynonymous single-nucleotide polymorphism within SCN9A in the affected proband and several unaffected family members; this polymorphism (c. 3448C&T, Single Nucleotide Polymorphisms database rs6746030, which produces the amino acid substitution R1150W in human Na(V)1.7 [hNa(V)1.7]) is present in 1.1 to 12.7% of control chromosomes, depending on ethnicity.	0.262860706	2009	SCN9A;LOC101929680	2	166277237	C	G,A
rs80356478	21289137	6335	SCN9A	umls:C0014804	BeFree	Kinetic modeling of Nav1.7 provides insight into erythromelalgia-associated F1449V mutation.	0.262860706	2011	SCN9A;LOC101929680	2	166226587	A	C
rs80356478	18550534	6335	SCN9A	umls:C0014804	BeFree	A pore-blocking hydrophobic motif at the cytoplasmic aperture of the closed-state Nav1.7 channel is disrupted by the erythromelalgia-associated F1449V mutation.	0.262860706	2008	SCN9A;LOC101929680	2	166226587	A	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0012531	Pain	MP:0005402	abnormal action potential;HP:0002045	Hypothermia

Chemical(Total Drugs:4)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0014804	carbamazepine	D002220	298-46-4	erythromelalgia	MESH:D004916	therapeutic	19549232
C0014804	gabapentin	C040029	60142-96-3	erythromelalgia	MESH:D004916	therapeutic	19549232
C0014804	lidocaine	D008012	137-58-6	erythromelalgia	MESH:D004916	therapeutic	22170168
C0014804	mexiletine	D008801	31828-71-4	erythromelalgia	MESH:D004916	therapeutic	19162012

FDA approved drug and dosage information(Total Drugs:7)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D004916	neurontin	gabapentin	100MG	CAPSULE;ORAL	Prescription	AB	Yes	No
MESH:D004916	neurontin	gabapentin	600MG	TABLET;ORAL	Prescription	AB	Yes	No
MESH:D004916	neurontin	gabapentin	250MG/5ML	SOLUTION;ORAL	Prescription	AA	Yes	Yes
MESH:D004916	neurontin	gabapentin	0	SOLUTION; ORAL	Prescription	None	No	No
MESH:D004916	neurontin	gabapentin	600MG	TABLET; ORAL	Prescription	None	No	No
MESH:D004916	neurontin	gabapentin	800MG	CAPSULE; ORAL	Prescription	None	No	No
MESH:D004916	neurontin	gabapentin	250MG/5ML	SOLUTION; ORAL	Prescription	None	No	No

FDA labeling changes(Total Drugs:7)
DiseaseID	Pediatric_Labeling_Date	Trade_Name	Generic_Name_or_Proper_Name	Indications Studied	Label Changes Summary	Product Labeling	BPCA(B)	PREA(P)	BPCA(B) and PREA(P)	Pediatric Rule (R)	Sponsor	Pediatric Exclusivity Granted Date	NNPS
MESH:D004916	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D004916	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D004916	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D004916	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D004916	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D004916	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'
MESH:D004916	12/10/2000	neurontin	gabapentin	Adjunctive therapy in the treatment of partial seizures	Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children	Labeling	B	-	-	-	Parke-Davis	2/2/2000	FALSE'

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