MCID: MTH007
MIFTS: 59

Methemoglobinemia malady

Genetic diseases, Blood diseases, Rare diseases categories
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Summaries for Methemoglobinemia

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Wikipedia:65 Methemoglobinemia (or methaemoglobinaemia) is a disorder characterized by the presence of a higher than... more...

MalaCards based summary: Methemoglobinemia is related to methemoglobinemia, type iv and hemolytic anemia. An important gene associated with Methemoglobinemia is CYB5A (cytochrome b5 type A (microsomal)), and among its related pathways are Sulfation Biotransformation Reaction and Folate Metabolism. The drugs sodium ascorbate and ascorbic acid and the compounds hads and no-dimethylhydroxylamine have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and lung, and related mouse phenotypes are liver/biliary system and cardiovascular system.

Aliases & Classifications for Methemoglobinemia

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 34MeSH, 27ICD9CM, 39NCIt, 57SNOMED-CT
See all sources

Methemoglobinemia, Aliases & Descriptions:

Name: Methemoglobinemia 8 10 44 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


External Ids:

Disease Ontology8 DOID:10783
MeSH34 D008708
ICD9CM27 289.7
NCIt39 C34817

Related Diseases for Methemoglobinemia

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Diseases in the Methemoglobinemia, Type I family:

Congenital Methemoglobinemia methemoglobinemia
Hereditary Methemoglobinemia, Recessive Methemoglobinemias, Beta-
Methemoglobinemias, Alpha- Methemoglobinemia, Type Iv
Methemoglobinemia, Type Ii

Diseases related to Methemoglobinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1methemoglobinemia, type iv31.0CYB5R3, HBG2, CYB5A
2hemolytic anemia30.9HBG2, HP, HBB, G6PD
3sulfhemoglobinemia30.9SHB, HBG2
4malaria30.5G6PD, GSR, HP, HBB
5favism30.5HP, G6PD
6hemoglobinopathy30.3HP, G6PD, HBB
7hepatitis29.6CYP3A4, CYP2E1, HP
8tuberculosis29.4HP, CYP3A4, GSR, CYP2E1, HBB
9congenital methemoglobinemia10.8
10blackwater fever10.5G6PD
11methemoglobinemia, type i10.5
12methemoglobinemia beta-globin type10.5
13hereditary persistence of fetal hemoglobin10.5HBB
14diabetic cataract10.4G6PD, GSR
15histiocytosis-lymphadenopathy plus syndrome10.4G6PD, HBB
16methemoglobinemia, type ii10.4
17congenital hemolytic anemia10.4HP, G6PD
18hemoglobinuria10.4G6PD, HP
19hemoglobinemia10.4HBB, HP
20alpha thalassemia10.4G6PD, HBB
21iron deficiency anemia10.4HBG2, G6PD
22autoimmune hemolytic anemia10.4HP, G6PD
23paroxysmal nocturnal hemoglobinuria, somatic10.3HP, G6PD
24phenylketonuria10.3G6PD, HBB
25sickle cell anemia10.3HBB, HBG2
26bilirubin metabolic disorder10.3HP, G6PD, HBG2
27mental retardation10.3
28acute kidney failure10.3HP, HBG2, G6PD
29glucosephosphate dehydrogenase deficiency10.3G6PD, HP, GSR
30chronic granulomatous disease10.3HBG2, SOD1, G6PD
31wilson disease10.3SOD1, G6PD
32diarrhea10.3
33nadh cytochrome b5 reductase deficiency10.3
34senile cataract10.3GSR, SOD1, G6PD
35polycythemia10.3HBB, G6PD
36vitiligo10.2GSR, G6PD, SOD1
37congenital heart disease10.2HP, HBG2, GSR
38cerebral malaria10.2G6PD, HP
39leukemia10.2
40cataract10.2GSR, G6PD, SOD1
41sickle cell disease10.2HP, G6PD, HBB, HBG2
42essential hypertension10.2SOD1, HP, GSR
43beta thalassemia10.2G6PD, GSR, HBB, HBG2
44primary hyperoxaluria10.2HBG2, G6PD, HP, GSR
45plasmodium falciparum malaria10.2GSR, HBB, G6PD, HP
46burns10.2
47pneumonia10.2
48hereditary methemoglobinemia, recessive10.2
49autosomal dominant methemoglobinemia10.2
50amyotrophic lateral sclerosis type 1410.2BLVRB, GSR, SOD1

Graphical network of the top 20 diseases related to Methemoglobinemia:



Diseases related to methemoglobinemia

Symptoms for Methemoglobinemia

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Drugs & Therapeutics for Methemoglobinemia

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Drug clinical trials:

Search ClinicalTrials for Methemoglobinemia

Search NIH Clinical Center for Methemoglobinemia

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Methemoglobinemia

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Anatomical Context for Methemoglobinemia

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MalaCards organs/tissues related to Methemoglobinemia:

32
Heart, Kidney, Lung, Spleen, Brain, Liver, Skin, Testes, Whole blood

Animal Models for Methemoglobinemia or affiliated genes

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MGI Mouse Phenotypes related to Methemoglobinemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0HP, SOD1, HBB, CYB5A, CYP2E1
2MP:00053857.9GSR, CYP2E1, SHB, HBB, SOD1, G6PD

Publications for Methemoglobinemia

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Articles related to Methemoglobinemia:

(show top 50)    (show all 581)
idTitleAuthorsYear
1
Methemoglobinemia induced by lidocaine-prilocaine cream. (24834764)
2014
2
Acute methemoglobinemia caused by suicidal ingestion of liquid fertilizer. (25089725)
2014
3
A rare case of acquired methemoglobinemia associated with alkaptonuria. (25130113)
2014
4
Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia]. (23866629)
2013
5
Cetacaine induced methemoglobinemia: overview of analysis and treatment strategies. (23798277)
2013
6
Prilocaine- and lidocaine-induced methemoglobinemia is caused by human carboxylesterase-, CYP2E1-, and CYP3A4-mediated metabolic activation. (23530020)
2013
7
Methemoglobinemia and hemolytic anemia after rasburicase administration in a child with leukemia. (21057874)
2013
8
Methemoglobinemia after a mediastinal stab wound. (23896056)
2013
9
Acute Favism: Methemoglobinemia May Cause Cyanosis and Low Pulse Oximetry Readings. (23697341)
2013
10
Thinking outside of the blue box: a case presentation of neonatal methemoglobinemia. (24169929)
2013
11
Case files of the medical toxicology fellowship at Banner Good Samaritan Medical Center in Phoenix, AZ: methemoglobinemia following dapsone exposure. (21487934)
2011
12
Severe methemoglobinemia after dental anesthesia: a warning about propitocaine-induced methemoglobinemia in neonates. (20706742)
2010
13
Prilocain-induced methemoglobinemia after endovenous laser ablation. (20346699)
2010
14
Acute methemoglobinemia associated with ochronotic valvular heart disease: report of a case. (20333576)
2010
15
A 3-year-old boy with fever and oral lesions. Diagnosis: methemoglobinemia. (19968205)
2009
16
Severe hemolysis and methemoglobinemia following fava beans ingestion in glucose-6-phosphatase dehydrogenase deficiency: case report and literature review. (19263080)
2009
17
Lethal methemoglobinemia and automobile exhaust inhalation. (19261402)
2009
18
A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia. (19579085)
2009
19
Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene. (18343696)
2008
20
A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia. (17964195)
2008
21
Methemoglobinemia and benzocaine. (18049203)
2007
22
Methemoglobinemia: an industrial outbreak among rubber molding workers. (16688009)
2006
23
Images in cardiovascular medicine. Methemoglobinemia as a rare complication during a transesophageal echocardiogram. (16717156)
2006
24
Infant methemoglobinemia: the role of dietary nitrate in food and water. (16140723)
2005
25
A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II. (15744830)
2005
26
Methylene blue in congenital methemoglobinemia: prophylactic or on demand? (16189344)
2005
27
Benzocaine-induced methemoglobinemia: a condition of which all endoscopists should be aware. (15497003)
2004
28
Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia. (15220799)
2004
29
Cytochrome b5 reductase: the roles of the recessive congenital methemoglobinemia mutants P144L, L148P, and R159*. (15488472)
2004
30
Celecoxib-induced methemoglobinemia. (15328400)
2004
31
A search for mutations in the DIA1 gene in case of hereditary methemoglobinemia type I in the iakut population]. (12884529)
2003
32
Heterologous expression of enzymopenic methemoglobinemia variants using a novel NADH:cytochrome c reductase fusion protein. (12821320)
2003
33
Severe methemoglobinemia after transesophageal echocardiography. (12756430)
2003
34
Cyclophosphamide-induced methemoglobinemia. (14625586)
2003
35
Use of methylene blue to treat methemoglobinemia in infancy. (12144224)
2001
36
Public notification to families with newborns at risk of methemoglobinemia from drinking water exposure, Clymer, New York, 1996-1998. (10537817)
1999
37
Methemoglobinemia after axillary block with bupivacaine and additional injection of lidocaine in the operative field. (10225085)
1999
38
Methemoglobinemia induced by accidental ingestion of nitrite. (17341917)
1998
39
Determination of concentration of cytosolic NADH-cytochrome b5 reductase in erythrocytes from normal Chinese adults, neonates and patients with hereditary methemoglobinemia by double-antibody sandwich ELISA. (9691146)
1998
40
Toxic methemoglobinemia after injection of prilocaine in a newborn. A case report. (10028870)
1998
41
Infant Methemoglobinemia in the Transylvania Region of Romania. (9891097)
1997
42
Index of suspicion. Case 2. Methemoglobinemia. (9360435)
1997
43
Correction of alimentary methemoglobinemia in children of preschool age by inclusion in the diet of products rich in antioxidants, vitamins and dietary fiber]. (8967053)
1996
44
Methemoglobinemia: a complication after fiberoptic orotracheal intubation with benzocaine spray. A case report. (7782367)
1995
45
Chronic methemoglobinemia: improving hemoglobin saturation monitoring during anesthesia. (7931458)
1994
46
A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism. (8168836)
1994
47
Methemoglobinemia from topically applied anesthetic spray. (8065193)
1994
48
Topical anesthetic-induced methemoglobinemia in sheep: a comparison of benzocaine and lidocaine. (1601230)
1992
49
An enzyme variation in a case of congenital methemoglobinemia. (4354625)
1973
50
Studies on the congenital methemoglobinemia in Okinawa Islands. 3. Mass survey on Henza and Miyagi Islands. (4751402)
1973

Variations for Methemoglobinemia

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Expression for genes affiliated with Methemoglobinemia

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Expression patterns in normal tissues for genes affiliated with Methemoglobinemia

Search GEO for disease gene expression data for Methemoglobinemia.

Pathways for genes affiliated with Methemoglobinemia

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Pathways related to Methemoglobinemia according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9G6PD, GSR
2
Show member pathways
Vitamin B12 Metabolism37
9.9SOD1, HBB
39.9GSR, SOD1
4
Show member pathways
9.9SOD1, GSR
59.7CYP3A4, CYP2E1
69.7CYP3A4, CYP2E1
7
Show member pathways
9.7CYP3A4, CYP2E1
89.7CYP3A4, CYP2E1
99.7CYP3A4, CYP2E1
109.7CYP2E1, CYP3A4
11
Show member pathways
thioredoxin pathway37
9.6HBB, SOD1, GSR
129.3BLVRB, CYB5R3, CYB5A, G6PD
13
Show member pathways
colanic acid building blocks biosynthesis37
N-acetylglucosamine degradation I37
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)37
UDP-D-xylose and UDP-D-glucuronate biosynthesis37
N-acetylglucosamine degradation II37
UDP-N-acetyl-D-glucosamine biosynthesis II37
UDP-N-acetyl-D-galactosamine biosynthesis II37
GDP-L-fucose biosynthesis I (from GDP-D-mannose)37
9.1CYB5R1, CYB5R3, CYB5R2
14
Show member pathways
7.9BLVRB, CYB5R3, CYP2E1, CYB5A, CYP3A4, HBB
15
Show member pathways
7.8CYB5R1, CYP3A4, CYB5A, CYP2E1, CYB5R3, CYB5R2

Compounds for genes affiliated with Methemoglobinemia

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Sources:
44Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 2BitterDB, 28IUPHAR
See all sources

Compounds related to Methemoglobinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 275)
idCompoundScoreTop Affiliating Genes
1hads4410.2CYB5R3, CYB5A, HBG2
2no-dimethylhydroxylamine4410.0G6PD, HBG2, GSR
3s-nitrosocysteine4410.0HBB, SOD1, HBG2
4methylene blue44 5010.9BLVRB, G6PD, CYB5R3
523-diphosphoglycerate449.9HBG2, HBB, HP, G6PD
6semiquinone449.8CYB5R3, HBG2, SOD1
7propyl gallate449.8GSR, CYP2E1, SOD1
8primaquine44 50 1111.8CYB5R3, CYP3A4, HBG2, G6PD
9thiobarbituric acid449.7G6PD, HP, SOD1, GSR
103-amino-1,2,4-triazole449.7HBG2, SOD1, GSR
11gssg449.7GSR, HBG2, SOD1, G6PD
12methylene449.7HBG2, G6PD, CYB5R3, BLVRB
13sulfadiazine44 50 1111.6CYP2E1, G6PD, CYP3A4
14flavin449.6CYB5A, CYB5R3, BLVRB, GSR
15benzyl alcohol44 1110.5HBG2, CYP3A4, CYP2E1, SOD1
16alpha tocopherol449.5SOD1, GSR, G6PD, HBG2, CYB5A
17malondialdehyde449.5HBG2, SOD1, GSR, G6PD, HP
18benzphetamine44 1110.5CYP2E1, CYB5A, CYP3A4
19uric acid44 2410.5G6PD, HP, GSR, HBG2, SOD1
20nitroglycerin44 1110.5GSR, SOD1, BLVRB, HBG2
21methimazole44 2 1111.4CYP3A4, G6PD, GSR, CYP2E1
22diethyl dithiocarbamate449.4CYP2E1, CYP3A4, GSR, SOD1
23dapsone44 2 50 1112.4CYB5R3, CYP2E1, CYP3A4, HBG2, G6PD
24acetaminophen44 2 50 24 1113.4CYB5A, CYP2E1, G6PD, CYP3A4, HBG2
25tocopherol449.3CYB5A, HBG2, SOD1, G6PD, HP, GSR
26vitamin-e449.3SOD1, HBG2, CYB5A, G6PD, HP, GSR
27dmso449.2HBB, G6PD, CYP2E1, SOD1, CYB5A
28menadione44 24 1111.2CYB5R3, CYP2E1, CYB5A, HBG2, SOD1, GSR
294-hydroxynonenal44 2410.2CYP2E1, SOD1, G6PD, GSR
30carbon449.2G6PD, HBG2, CYB5A, CYP2E1, BLVRB
31methoxyflurane50 44 1111.2CYP3A4, CYB5A, CYP2E1
32quinine44 28 2 50 1113.2CYP2E1, G6PD, CYP3A4, BLVRB
33metoclopramide44 50 1111.1CYB5R3, CYB5R4, CYB5R2, CYB5R1
34glucose 6-phosphate44 2410.0SOD1, HBB, G6PD, GSR, HBG2, CYB5R3
35NADP248.9CYP2E1, CYP3A4, G6PD, GSR, BLVRB
36epinephrine44 24 1110.9GSR, HP, HBG2, G6PD, CYP3A4
37iron44 249.9CYB5R3, BLVRB, HP, CYB5A, SOD1, HBB
38superoxide44 249.8SOD1, GSR, CYB5R3, HBG2, CYB5A, BLVRB
39creatinine448.8GSR, HP, SOD1, CYP2E1, HBG2, G6PD
40ascorbic acid44 249.7GSR, HP, G6PD, SOD1, HBG2, CYB5A
41arginine448.7HBG2, CYB5R3, BLVRB, SOD1, GSR, HBB
42lactate448.6CYB5A, HBG2, HP, HBB, CYP2E1, G6PD
43heme28 24 1110.6CYB5R4, CYP2E1, CYB5A, CYP3A4, HBG2, HBB
44lipid448.5HBG2, CYB5R3, CYP2E1, SOD1, G6PD, HP
45h2o2448.4G6PD, HP, CYB5R3, GSR, HBB, CYP2E1
46nadph44 249.1CYB5R3, CYP2E1, CYB5A, CYP3A4, SOD1, G6PD
47FAD248.0CYB5R1, CYB5R3, CYB5R2, CYB5R4, GSR, CYB5RL
48oxygen44 249.0CYB5R3, GSR, G6PD, SOD1, HBB, CYP2E1
49nad28 248.6CYB5R1, BLVRB, CYB5R2, GSR, CYB5RL, CYB5R3
50nadh44 24 118.6G6PD, CYB5R1, GSR, SOD1, HBG2, CYB5A

GO Terms for genes affiliated with Methemoglobinemia

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Cellular components related to Methemoglobinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:03183810.0HP, HBB
2hemoglobin complexGO:0058339.8HBB, HBG2, CYB5R3
3endocytic vesicle lumenGO:0716829.6HBB, HP
4blood microparticleGO:0725629.6HP, HBB, HBG2
5mitochondrionGO:0057398.4SOD1, CYB5R1, CYP2E1, CYB5R3, CYB5R2
6extracellular vesicular exosomeGO:0700628.0BLVRB, CYB5R1, HBB, SOD1, G6PD, HP

Biological processes related to Methemoglobinemia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1L-ascorbic acid metabolic processGO:01985210.0CYB5A, CYB5R3
2NADP metabolic processGO:00673910.0CYB5R4, G6PD
3monoterpenoid metabolic processGO:0160989.9CYP3A4, CYP2E1
4heterocycle metabolic processGO:0464839.9CYP3A4, CYP2E1
5glutathione metabolic processGO:0067499.8GSR, G6PD, SOD1
6response to hydrogen peroxideGO:0425429.8HBB, SOD1, HP
7superoxide metabolic processGO:0068019.7SOD1, CYB5R4
8drug metabolic processGO:0171449.7CYP3A4, CYP2E1
9positive regulation of cell deathGO:0109429.6HP, HBB
10response to ethanolGO:0454719.6CYP2E1, SOD1, G6PD
11sterol biosynthetic processGO:0161269.5CYB5R2, CYB5R1
12oxidation-reduction processGO:0551148.6G6PD, CYB5R4, CYB5R2, CYP2E1, CYP3A4, HBB
13small molecule metabolic processGO:0442818.2BLVRB, CYB5R3, CYP2E1, CYB5A, CYP3A4, HBB

Molecular functions related to Methemoglobinemia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin bindingGO:03049210.0HP, HBB
2monooxygenase activityGO:0044979.7CYP3A4, CYP2E1
3oxygen transporter activityGO:0053449.7HBB, HBG2
4flavin adenine dinucleotide bindingGO:0506609.6CYB5R4, CYB5R3, GSR
5oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygenGO:0167129.6CYP3A4, CYP2E1
6oxygen bindingGO:0198259.3HBB, HBG2, CYP3A4, CYP2E1
7iron ion bindingGO:0055069.3CYP2E1, CYP3A4, HBG2, HBB
8heme bindingGO:0200378.8CYB5R4, CYP2E1, CYB5A, CYP3A4, HBG2, HBB
9cytochrome-b5 reductase activity, acting on NAD(P)HGO:0041288.1CYB5R1, CYB5RL, CYB5R3, CYB5R2, CYB5R4

Products for genes affiliated with Methemoglobinemia

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  • Antibodies
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Sources for Methemoglobinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet