PedAM

Pediatric Disease Annotations & Medicines


	methemoglobinemia

Disease ID	367
Disease	methemoglobinemia
Definition	The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)
Synonym	increased methaemoglobin increased methemoglobin increased methemoglobin (biological function) increased methemoglobin (biological function) (finding) increased methemoglobin (finding) increased methemoglobin -retired- methaemoglobinaemia methaemoglobinaemia (disorder) methaemoglobinaemia [ambiguous] methaemoglobinaemia nos methemoglobinemia (disorder) methemoglobinemia [disease/finding] methemoglobinemia nos methemoglobinemia nos (disorder) methemoglobinemia, nos methemoglobinemias
DOID	DOID:10783
UMLS	C0025637
MeSH	D008708
SNOMED-CT	SNOMEDCT_US_2016_09_01:38959009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:21) C0002878 \| hemolytic anemia \| 3 C0002871 \| anemia \| 2 C0035078 \| renal failure \| 1 C0034063 \| pulmonary oedema \| 1 C0017920 \| g6pd deficiency \| 1 C0024530 \| malaria \| 1 C0026934 \| mycoplasma \| 1 C0025958 \| microcephaly \| 1 C0023418 \| leukemia \| 1 C0032302 \| mycoplasma pneumonia \| 1 C0038362 \| stomatitis \| 1 C0017920 \| glucose-6-phosphate dehydrogenase deficiency \| 1 C0032302 \| mycoplasma pneumoniae pneumonia \| 1 C0032285 \| pneumoniae \| 1 C0015702 \| favism \| 1 C0032285 \| pneumonia \| 1 C0018824 \| valvular heart disease \| 1 C0013421 \| dystonia \| 1 C0024537 \| vivax malaria \| 1 C0022660 \| acute renal failure \| 1 C0018799 \| heart disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) HBB \| 3043 \| CTD_human HBA1 \| 3039 \| CTD_human CYP1A2 \| 1544 \| CTD_human CYB5R3 \| 1727 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:81) 3162 \| HMOX1 \| DISEASES 4627 \| MYH9 \| DISEASES 10005 \| ACOT8 \| DISEASES 4350 \| MPG \| DISEASES 1666 \| DECR1 \| DISEASES 973 \| CD79A \| DISEASES 13 \| AADAC \| DISEASES 5534 \| PPP3R1 \| DISEASES 847 \| CAT \| DISEASES 4656 \| MYOG \| DISEASES 7355 \| SLC35A2 \| DISEASES 57576 \| KIF17 \| DISEASES 239 \| ALOX12 \| DISEASES 50484 \| RRM2B \| DISEASES 4695 \| NDUFA2 \| DISEASES 1571 \| CYP2E1 \| DISEASES 2346 \| FOLH1 \| DISEASES 9360 \| PPIG \| DISEASES 1 \| A1BG \| DISEASES 55686 \| MREG \| DISEASES 645 \| BLVRB \| DISEASES 10382 \| TUBB4A \| DISEASES 80321 \| CEP70 \| DISEASES 3263 \| HPX \| DISEASES 6652 \| SORD \| DISEASES 85407 \| NKD1 \| DISEASES 3930 \| LBR \| DISEASES 55347 \| ABHD10 \| DISEASES 6326 \| SCN2A \| DISEASES 10 \| NAT2 \| DISEASES 114757 \| CYGB \| DISEASES 27306 \| HPGDS \| DISEASES 2168 \| FABP1 \| DISEASES 213 \| ALB \| DISEASES 6862 \| T \| DISEASES 51700 \| CYB5R2 \| DISEASES 147912 \| SIX5 \| DISEASES 8824 \| CES2 \| DISEASES 3047 \| HBG1 \| DISEASES 255324 \| EPGN \| DISEASES 2621 \| GAS6 \| DISEASES 3043 \| HBB \| DISEASES 1576 \| CYP3A4 \| DISEASES 3048 \| HBG2 \| DISEASES 4128 \| MAOA \| DISEASES 1528 \| CYB5A \| DISEASES 1544 \| CYP1A2 \| DISEASES 197021 \| LCTL \| DISEASES 26762 \| HAVCR1 \| DISEASES 3767 \| KCNJ11 \| DISEASES 3792 \| KEL \| DISEASES 3240 \| HP \| DISEASES 56980 \| PRDM10 \| DISEASES 4151 \| MB \| DISEASES 23230 \| VPS13A \| DISEASES 1066 \| CES1 \| DISEASES 1727 \| CYB5R3 \| DISEASES 4519 \| MT-CYB \| DISEASES 9937 \| DCLRE1A \| DISEASES 2058 \| EPRS \| DISEASES 51706 \| CYB5R1 \| DISEASES 51167 \| CYB5R4 \| DISEASES 1557 \| CYP2C19 \| DISEASES 129685 \| TAF8 \| DISEASES 84890 \| ADO \| DISEASES 54829 \| ASPN \| DISEASES 3303 \| HSPA1A \| DISEASES 23013 \| SPEN \| DISEASES 7917 \| BAG6 \| DISEASES 4878 \| NPPA \| DISEASES 6461 \| SHB \| DISEASES 127262 \| TPRG1L \| DISEASES 375790 \| AGRN \| DISEASES 3045 \| HBD \| DISEASES 83650 \| SLC35G5 \| DISEASES 862 \| RUNX1T1 \| DISEASES 389125 \| MUSTN1 \| DISEASES 80012 \| PHC3 \| DISEASES 100423062 \| IGLL5 \| DISEASES 7138 \| TNNT1 \| DISEASES 378938 \| MALAT1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	367
Disease	methemoglobinemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:12) HP:0000961 \| Cyanosis \| 5 HP:0001878 \| Haemolytic anaemia \| 3 HP:0001903 \| Anemia \| 2 HP:0002090 \| Pneumonia \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0000969 \| Dropsy \| 1 HP:0001332 \| Dystonia \| 1 HP:0000952 \| Yellow skin \| 1 HP:0001909 \| Leukemia \| 1 HP:0000252 \| Small head circumference \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0100598 \| Pulmonary oedema \| 1

Disease ID	367
Disease	methemoglobinemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C0948202 \| anemic hypoxia C0578475 \| cyanotic episode C0476273 \| respiratory distress C0039236 \| paroxysmal tachycardia C0025362 \| mental retardation C0010520 \| cyanosis C0010520 \| cyanoses C0003130 \| anoxia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0010520 \| cyanosis \| 5

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

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121965006	14609324	1727	CYB5R3	umls:C0025637	BeFree	The structure of the S127P mutant of cytochrome b5 reductase that causes methemoglobinemia shows the AMP moiety of the flavin occupying the substrate binding site.	0.127891677	2003	CYB5R3	22	42628233	A	G
rs121965006	14609324	353	APRT	umls:C0025637	BeFree	The structure of the S127P mutant of cytochrome b5 reductase that causes methemoglobinemia shows the AMP moiety of the flavin occupying the substrate binding site.	0.000271442	2003	CYB5R3	22	42628233	A	G
rs121965013	9695975	1727	CYB5R3	umls:C0025637	BeFree	Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I.	0.127891677	1998	CYB5R3	22	42631386	A	G
rs371323516	9695975	1727	CYB5R3	umls:C0025637	BeFree	Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I.	0.127891677	1998	CYB5R3	22	42636752	G	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:0)
(Waiting for update.)

Chemical(Total Drugs:9)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0025637	acetaminophen	D000082	103-90-2	methemoglobinemia	MESH:D008708	marker/mechanism	7585440
C0025637	chloroquine	D002738	1954/5/7	methemoglobinemia	MESH:D008708	marker/mechanism	3537620
C0025637	cimetidine	D002927	51481-61-9	methemoglobinemia	MESH:D008708	therapeutic	12030789
C0025637	dapsone	D003622	80-08-0	methemoglobinemia	MESH:D008708	marker/mechanism	11710542
C0025637	glutathione	D005978	70-18-8	methemoglobinemia	MESH:D008708	therapeutic	1308751
C0025637	lidocaine	D008012	137-58-6	methemoglobinemia	MESH:D008708	marker/mechanism	17612444
C0025637	nitric oxide	D009569	10102-43-9	methemoglobinemia	MESH:D008708	marker/mechanism	8179406
C0025637	thalidomide	D013792	50-35-1	methemoglobinemia	MESH:D008708	marker/mechanism	2985516
C0025637	zidovudine	D015215	30516-87-1	methemoglobinemia	MESH:D008708	therapeutic	11710542

FDA approved drug and dosage information(Total Drugs:11)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D008708	retrovir	zidovudine	100MG	CAPSULE;ORAL	Prescription	AB	Yes	Yes
MESH:D008708	retrovir	zidovudine	50MG/5ML	SYRUP;ORAL	Prescription	AA	Yes	Yes
MESH:D008708	retrovir	zidovudine	10MG/ML	INJECTABLE;INJECTION	Prescription	AP	Yes	Yes
MESH:D008708	retrovir	zidovudine	200MG	TABLET;ORAL	Discontinued	None	No	No
MESH:D008708	zidovudine	zidovudine	60MG	TABLET;ORAL	Discontinued	None	No	No
MESH:D008708	zidovudine	zidovudine	60MG	TABLET;ORAL	Discontinued	None	No	No
MESH:D008708	ofirmev	acetaminophen	1GM/100ML (10MG/ML)	SOLUTION;IV (INFUSION)	Prescription	AP	Yes	Yes
MESH:D008708	ofirmev	acetaminophen	1GM/100ML (10MG/ML)	SOLUTION;IV (INFUSION)	Prescription	AP	Yes	Yes
MESH:D008708	acetaminophen	acetaminophen	650MG	SUPPOSITORY;RECTAL	Over-the-counter	None	Yes	Yes
MESH:D008708	acetaminophen	acetaminophen	650MG	SUPPOSITORY;RECTAL	Over-the-counter	None	Yes	Yes
MESH:D008708	inomax	nitric oxide	100PPM Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons	GAS;INHALATION	Discontinued	None	Yes	No

FDA labeling changes(Total Drugs:11)
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:D008708	6/11/2009	retrovir	zidovudine	Treatment of HIV-1 infection in combination with other antiretroviral agents	Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg	Labeling	-	P	-	-	GlaxoSmithKline	-	TRUE'
MESH:D008708	6/11/2009	retrovir	zidovudine	Treatment of HIV-1 infection in combination with other antiretroviral agents	Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg	Labeling	-	P	-	-	GlaxoSmithKline	-	TRUE'
MESH:D008708	6/11/2009	retrovir	zidovudine	Treatment of HIV-1 infection in combination with other antiretroviral agents	Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg	Labeling	-	P	-	-	GlaxoSmithKline	-	TRUE'
MESH:D008708	6/11/2009	retrovir	zidovudine	Treatment of HIV-1 infection in combination with other antiretroviral agents	Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg	Labeling	-	P	-	-	GlaxoSmithKline	-	TRUE'
MESH:D008708	09/19/2008	retrovir syrup, capsules and tablets	zidovudine	Used in combination with 18 other antiretroviral agents for the treatment of HIV-1 infection	Dosing and administration information provided to children 6 weeks to less than 18 years of age Macrocytosis was reported in the majority of pediatric patients receiving Retrovir 180 mg/m2 every 6 hours in open-label studies New dosing regimen	Labeling	-	P	-	-	GlaxoSmithKline	-	TRUE'
MESH:D008708	6/11/2009	retrovir	zidovudine	Treatment of HIV-1 infection in combination with other antiretroviral agents	Provided dosing recommendations for patients 4 weeks to < 6 weeks of age and weighing 4 kg to < 9 kg	Labeling	-	P	-	-	GlaxoSmithKline	-	TRUE'
MESH:D008708	2/11/2010	ofirmev	acetaminophen	Management of mild-to-moderate pain, for the management of moderate-to-severe pain with adjunctive opioid analgesics, and for the reduction of fever	The safety and effectiveness of Ofirmev for the treatment of acute pain and fever in pediatric patients ages 2 years and older is supported by evidence from adequate and well-controlled studies of Ofirmev in adults. Additional safety and PK data was collected in 355 from premature neonates to adolescents. The effectiveness of Ofirmev for the treatment of acute pain and fever has not been studied in pediatric patients < 2 years of age.The PK exposure of Ofirmev observed in children and adolescents is similar to adults, but higher in neonates and infants. Dosing simulations from PK data in infants and neonates suggest that dose reductions of 33% in infants 1 month to < 2 years of age, and 50% in neonates up to 28 days, with a minimum dosing interval of 6 hours, will produce a PK exposure similar to that observed in children age 2 years and olderMost common adverse reactions in pediatric patients were nausea, vomiting, constipation, pruritus, agitation, and atelectasis.Information on dosing, clinical studies, adverse reactions and PK parametersNew dosage form and route of administration	Labeling	-	P	-	-	Cadence	-	FALSE'
MESH:D008708	01/27/2017	ofirmev	acetaminophen	Treatmeny of pain and fever in pediatric patients birth to 2 years	Treatment of pain Efficacy was not demonstrated in pediatric patients younger than 2 years in a double-blind, placebo-controlled study of 198 pediatric patients younger than 2 years. Pediatric patients less than 2 years of age, including neonates from 28 to 40 weeks gestational age at birth, were randomized to receive opioid plus acetaminophen or opioid plus placebo. No difference in analgesic effect of intravenous acetaminophen, measured by assessment of reduced need for additional opioid treatment for pain control, was observed. Treatment of fever The safety and effectiveness for the treatment of fever in pediatric patients, including premature neonates born at 32 weeks or greater gestation is supported by adequate and well-controlled studies of Ofirmev in adults, clinical studies in 244 pediatric patients 2 years and older, and safety and pharmacokinetic data from 239 patients younger than 2 years including neonates 32 weeks or greater gestational age. Information on dosing, clinical trials. Postmarketing study.	Labeling	-	-	B,P	-	Mallinckrodt	11/7/2016	FALSE
MESH:D008708	2/11/2010	ofirmev	acetaminophen	Management of mild-to-moderate pain, for the management of moderate-to-severe pain with adjunctive opioid analgesics, and for the reduction of fever	The safety and effectiveness of Ofirmev for the treatment of acute pain and fever in pediatric patients ages 2 years and older is supported by evidence from adequate and well-controlled studies of Ofirmev in adults. Additional safety and PK data was collected in 355 from premature neonates to adolescents. The effectiveness of Ofirmev for the treatment of acute pain and fever has not been studied in pediatric patients < 2 years of age.The PK exposure of Ofirmev observed in children and adolescents is similar to adults, but higher in neonates and infants. Dosing simulations from PK data in infants and neonates suggest that dose reductions of 33% in infants 1 month to < 2 years of age, and 50% in neonates up to 28 days, with a minimum dosing interval of 6 hours, will produce a PK exposure similar to that observed in children age 2 years and olderMost common adverse reactions in pediatric patients were nausea, vomiting, constipation, pruritus, agitation, and atelectasis.Information on dosing, clinical studies, adverse reactions and PK parametersNew dosage form and route of administration	Labeling	-	P	-	-	Cadence	-	FALSE'
MESH:D008708	01/27/2017	ofirmev	acetaminophen	Treatmeny of pain and fever in pediatric patients birth to 2 years	Treatment of pain Efficacy was not demonstrated in pediatric patients younger than 2 years in a double-blind, placebo-controlled study of 198 pediatric patients younger than 2 years. Pediatric patients less than 2 years of age, including neonates from 28 to 40 weeks gestational age at birth, were randomized to receive opioid plus acetaminophen or opioid plus placebo. No difference in analgesic effect of intravenous acetaminophen, measured by assessment of reduced need for additional opioid treatment for pain control, was observed. Treatment of fever The safety and effectiveness for the treatment of fever in pediatric patients, including premature neonates born at 32 weeks or greater gestation is supported by adequate and well-controlled studies of Ofirmev in adults, clinical studies in 244 pediatric patients 2 years and older, and safety and pharmacokinetic data from 239 patients younger than 2 years including neonates 32 weeks or greater gestational age. Information on dosing, clinical trials. Postmarketing study.	Labeling	-	-	B,P	-	Mallinckrodt	11/7/2016	FALSE
MESH:D008708	12/21/2010	inomax	nitric oxide	Prevention of bronchopulmonary dysplasia	INOmax is not indicated for prevention of BPD in preterm neonates d 34 weeks gestational age.Efficacy for the prevention of BPD in preterm infants was not established in three ldouble-blind, placebo-controlled clinical trials in a total of 2,149 preterm infants Information on clinical trials, adverse reaction	Labeling	B	-	-	-	INO Therapeutics	2/11/2010	FALSE'

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