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	methemoglobinemia

Disease ID	947
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:24) C0002878 \| hemolytic anemia \| 3 C0017920 \| g6pd deficiency \| 3 C0002871 \| anemia \| 2 C0035078 \| renal failure \| 1 C0034063 \| pulmonary oedema \| 1 C0013421 \| dystonia \| 1 C0018824 \| valvular heart disease \| 1 C0026934 \| mycoplasma \| 1 C0018799 \| heart disease \| 1 C0038362 \| stomatitis \| 1 C0017920 \| glucose-6-phosphate dehydrogenase deficiency \| 1 C0017636 \| glioblastoma \| 1 C0002066 \| alkaptonuria \| 1 C0032302 \| mycoplasma pneumoniae pneumonia \| 1 C0032302 \| mycoplasma pneumonia \| 1 C0023418 \| leukemia \| 1 C0025958 \| microcephaly \| 1 C0022660 \| acute renal failure \| 1 C0024530 \| malaria \| 1 C1621958 \| glioblastoma multiforme \| 1 C0015702 \| favism \| 1 C0024537 \| vivax malaria \| 1 C0032285 \| pneumonia \| 1 C0032285 \| pneumoniae \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 1544 \| CYP1A2 \| CTD_human 3039 \| HBA1 \| CTD_human 3043 \| HBB \| CTD_human 1727 \| CYB5R3 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:43) 84890 \| ADO \| 1.548 \| DISEASES 375790 \| AGRN \| 1.53 \| DISEASES 54829 \| ASPN \| 1.836 \| DISEASES 7917 \| BAG6 \| 1.836 \| DISEASES 1066 \| CES1 \| 1.735 \| DISEASES 1528 \| CYB5A \| 6.094 \| DISEASES 51706 \| CYB5R1 \| 5.688 \| DISEASES 1727 \| CYB5R3 \| 7.177 \| DISEASES 51167 \| CYB5R4 \| 5.362 \| DISEASES 1544 \| CYP1A2 \| 2.385 \| DISEASES 1557 \| CYP2C19 \| 1.901 \| DISEASES 1576 \| CYP3A4 \| 1.455 \| DISEASES 9937 \| DCLRE1A \| 1.164 \| DISEASES 255324 \| EPGN \| 1.763 \| DISEASES 2058 \| EPRS \| 1.131 \| DISEASES 2621 \| GAS6 \| 1.5 \| DISEASES 26762 \| HAVCR1 \| 1.175 \| DISEASES 3043 \| HBB \| 3.324 \| DISEASES 3045 \| HBD \| 1.282 \| DISEASES 3047 \| HBG1 \| 1.799 \| DISEASES 3048 \| HBG2 \| 2.615 \| DISEASES 3240 \| HP \| 2.653 \| DISEASES 3303 \| HSPA1A \| 1.013 \| DISEASES 100423062 \| IGLL5 \| 1.744 \| DISEASES 3767 \| KCNJ11 \| 1.347 \| DISEASES 3792 \| KEL \| 2.226 \| DISEASES 197021 \| LCTL \| 3.029 \| DISEASES 378938 \| MALAT1 \| 1.347 \| DISEASES 4128 \| MAOA \| 1.884 \| DISEASES 4151 \| MB \| 1.923 \| DISEASES 4519 \| MT-CYB \| 3.717 \| DISEASES 389125 \| MUSTN1 \| 3.446 \| DISEASES 4878 \| NPPA \| 1.011 \| DISEASES 80012 \| PHC3 \| 2.374 \| DISEASES 56980 \| PRDM10 \| 1.15 \| DISEASES 862 \| RUNX1T1 \| 1.282 \| DISEASES 6461 \| SHB \| 4.201 \| DISEASES 83650 \| SLC35G5 \| 1.618 \| DISEASES 23013 \| SPEN \| 1.583 \| DISEASES 129685 \| TAF8 \| 2.63 \| DISEASES 7138 \| TNNT1 \| 2.041 \| DISEASES 127262 \| TPRG1L \| 2.438 \| DISEASES 23230 \| VPS13A \| 2.029 \| DISEASES
Locus	(Waiting for update.)

Disease ID	947
Disease	methemoglobinemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0000961 \| Cyanosis \| 6 HP:0001878 \| Haemolytic anaemia \| 3 HP:0001903 \| Anemia \| 2 HP:0001919 \| Acute renal failure \| 2 HP:0001332 \| Dystonia \| 1 HP:0000952 \| Yellow skin \| 1 HP:0000969 \| Dropsy \| 1 HP:0000252 \| Small head circumference \| 1 HP:0100843 \| Glioblastoma \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0002090 \| Pneumonia \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0012174 \| Glioblastoma multiforme \| 1 HP:0001909 \| Leukemia \| 1

Disease ID	947
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 \| 6

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

Text Mining Genotype(Total 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.)

Disease ID	947
Disease	methemoglobinemia
Case	(Waiting for update.)

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