MCID: MTH007
MIFTS: 51

Methemoglobinemia malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Methemoglobinemia

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Wikipedia:63 Methemoglobinemia (or methaemoglobinaemia) is a disorder characterized by the presence of a higher than... more...

MalaCards based summary: Methemoglobinemia is related to hereditary methemoglobinemia and glucose-6-phosphate dehydrogenase deficiency. 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 ascorbic acid and ascorbic acid powder and the compounds hads and no-dimethylhydroxylamine have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and lung, and related mouse phenotypes are liver/biliary system and cardiovascular system.

Aliases & Classifications for Methemoglobinemia

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS, 55SNOMED-CT, 38NCIt, 27ICD9CM, 33MeSH
See all sources

Methemoglobinemia, Aliases & Descriptions:

Name: Methemoglobinemia 9 11 43 60


Classifications:

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


External Ids:

Disease Ontology9 DOID:10783
NCIt38 C34817
ICD9CM27 289.7
MeSH33 D008708

Related Diseases for Methemoglobinemia

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Diseases in the Methemoglobinemia family:

Methemoglobinemia, Type Iv Methemoglobinemia, Type I
Congenital Methemoglobinemia Hereditary Methemoglobinemia, Recessive
Recessive Hereditary Methemoglobinemia Type 1 Recessive Hereditary Methemoglobinemia Type 2
Hereditary Methemoglobinemia Autosomal Dominant Methemoglobinemia

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

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary methemoglobinemia31.4CYB5R3, HBG2, CYB5A
2glucose-6-phosphate dehydrogenase deficiency30.9HBG2, G6PD, HP
3hemolytic anemia30.9HBG2, HP, HBB, G6PD
4sulfhemoglobinemia30.9SHB, HBG2
5malaria30.6G6PD, HP
6thalassemia30.6G6PD, HBB, HBG2
7favism30.5HP, G6PD
8hemoglobinopathy30.3HP, G6PD, HBB
9alcohol dependence29.9G6PD, GSR, CYP2E1
10hepatitis29.6CYP3A4, CYP2E1, HP
11tuberculosis29.4HP, CYP3A4, GSR, CYP2E1, HBB
12congenital methemoglobinemia10.9
13methemoglobinemia, type i10.6
14blackwater fever10.5G6PD
15methemoglobinemia beta-globin type10.5
16fetal hemoglobin quantitative trait locus 110.5HBB
17diabetic cataract10.4G6PD, GSR
18hereditary spherocytosis10.4G6PD, HBB
19congenital hemolytic anemia10.4HP, G6PD
20hemoglobinemia10.4HBB, HP
21hemoglobinuria10.4G6PD, HP
22methemoglobinemia, type iv10.4
23thalassemias, alpha-10.4G6PD, HBB
24iron deficiency anemia10.4HBG2, G6PD
25autoimmune hemolytic anemia10.3HP, G6PD
26paroxysmal nocturnal hemoglobinuria10.3HP, G6PD
27phenylketonuria10.3G6PD, HBB
28sickle cell anemia10.3HBB, HBG2
29mental retardation10.3
30bilirubin metabolic disorder10.3HP, G6PD, HBG2
31acute kidney failure10.3HP, HBG2, G6PD
32glucosephosphate dehydrogenase deficiency10.3G6PD, HP, GSR
33chronic granulomatous disease10.3HBG2, SOD1, G6PD
34wilson disease10.3SOD1, G6PD
35diarrhea10.3
36autosomal dominant methemoglobinemia10.3
37senile cataract10.3GSR, SOD1, G6PD
38polycythemia10.2HBB, G6PD
39vitiligo-associated multiple autoimmune disease susceptibility 110.2GSR, G6PD, SOD1
40congenital heart disease10.2HP, HBG2, GSR
41leukemia10.2
42hereditary methemoglobinemia, recessive10.2
43recessive hereditary methemoglobinemia type 110.2
44recessive hereditary methemoglobinemia type 210.2
45cataract10.2GSR, G6PD, SOD1
46sickle cell disease10.2HP, G6PD, HBB, HBG2
47hypertension, essential10.2SOD1, HP, GSR
48thalassemia, hispanic gamma-delta-beta10.2G6PD, GSR, HBB, HBG2
49primary hyperoxaluria10.2HBG2, G6PD, HP, GSR
50leprosy10.2

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 UMLS60/NDF-RT39:

Genetic Tests for Methemoglobinemia

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Anatomical Context for Methemoglobinemia

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MalaCards organs/tissues related to Methemoglobinemia:

31
Kidney, Heart, 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:

35
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 595)
idTitleAuthorsYear
1
Methemoglobinemia as a complication of topical dapsone. (25629755)
2015
2
Methemoglobinemia induced by lidocaine-prilocaine cream. (24834764)
2014
3
Acute methemoglobinemia caused by suicidal ingestion of liquid fertilizer. (25089725)
2014
4
A rare case of acquired methemoglobinemia associated with alkaptonuria. (25130113)
2014
5
Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia]. (23866629)
2013
6
Cetacaine induced methemoglobinemia: overview of analysis and treatment strategies. (23798277)
2013
7
Prilocaine- and lidocaine-induced methemoglobinemia is caused by human carboxylesterase-, CYP2E1-, and CYP3A4-mediated metabolic activation. (23530020)
2013
8
Methemoglobinemia and hemolytic anemia after rasburicase administration in a child with leukemia. (21057874)
2013
9
Methemoglobinemia after a mediastinal stab wound. (23896056)
2013
10
Acute Favism: Methemoglobinemia May Cause Cyanosis and Low Pulse Oximetry Readings. (23697341)
2013
11
Thinking outside of the blue box: a case presentation of neonatal methemoglobinemia. (24169929)
2013
12
Case files of the medical toxicology fellowship at Banner Good Samaritan Medical Center in Phoenix, AZ: methemoglobinemia following dapsone exposure. (21487934)
2011
13
Severe methemoglobinemia after dental anesthesia: a warning about propitocaine-induced methemoglobinemia in neonates. (20706742)
2010
14
Prilocain-induced methemoglobinemia after endovenous laser ablation. (20346699)
2010
15
Acute methemoglobinemia associated with ochronotic valvular heart disease: report of a case. (20333576)
2010
16
A 3-year-old boy with fever and oral lesions. Diagnosis: methemoglobinemia. (19968205)
2009
17
Severe hemolysis and methemoglobinemia following fava beans ingestion in glucose-6-phosphatase dehydrogenase deficiency: case report and literature review. (19263080)
2009
18
Lethal methemoglobinemia and automobile exhaust inhalation. (19261402)
2009
19
A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia. (19579085)
2009
20
Recessive hereditary methemoglobinemia: two novel mutations in the NADH-cytochrome b5 reductase gene. (18343696)
2008
21
A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia. (17964195)
2008
22
Methemoglobinemia and benzocaine. (18049203)
2007
23
Images in cardiovascular medicine. Methemoglobinemia as a rare complication during a transesophageal echocardiogram. (16717156)
2006
24
Methemoglobinemia: life-threatening hazard of multiple drug ingestions. (19606800)
2006
25
Infant methemoglobinemia: the role of dietary nitrate in food and water. (16140723)
2005
26
A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II. (15744830)
2005
27
Methylene blue in congenital methemoglobinemia: prophylactic or on demand? (16189344)
2005
28
Benzocaine-induced methemoglobinemia: a condition of which all endoscopists should be aware. (15497003)
2004
29
Methemoglobinemia from hydrogen peroxide in a patient with acatalasemia. (15220799)
2004
30
Cytochrome b5 reductase: the roles of the recessive congenital methemoglobinemia mutants P144L, L148P, and R159*. (15488472)
2004
31
Celecoxib-induced methemoglobinemia. (15328400)
2004
32
A search for mutations in the DIA1 gene in case of hereditary methemoglobinemia type I in the iakut population]. (12884529)
2003
33
Heterologous expression of enzymopenic methemoglobinemia variants using a novel NADH:cytochrome c reductase fusion protein. (12821320)
2003
34
Severe methemoglobinemia after transesophageal echocardiography. (12756430)
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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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 Suite gene sharing:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9G6PD, GSR
2
Show member pathways
Vitamin B12 Metabolism36
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 pathway36
9.6HBB, SOD1, GSR
129.3BLVRB, CYB5R3, CYB5A, G6PD
13
Show member pathways
colanic acid building blocks biosynthesis36
N-acetylglucosamine degradation I36
CMP-N-acetylneuraminate biosynthesis I (eukaryotes)36
UDP-D-xylose and UDP-D-glucuronate biosynthesis36
N-acetylglucosamine degradation II36
UDP-N-acetyl-D-glucosamine biosynthesis II36
UDP-N-acetyl-D-galactosamine biosynthesis II36
GDP-L-fucose biosynthesis I (from GDP-D-mannose)36
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:
43Novoseek, 49PharmGKB, 12DrugBank, 24HMDB, 2BitterDB, 28IUPHAR
See all sources

Compounds related to Methemoglobinemia according to GeneCards Suite gene sharing:

(show top 50)    (show all 275)
idCompoundScoreTop Affiliating Genes
1hads4310.2CYB5R3, CYB5A, HBG2
2no-dimethylhydroxylamine4310.0G6PD, HBG2, GSR
3s-nitrosocysteine4310.0HBB, SOD1, HBG2
4methylene blue43 4910.9BLVRB, G6PD, CYB5R3
523-diphosphoglycerate439.9HBG2, HBB, HP, G6PD
6semiquinone439.8CYB5R3, HBG2, SOD1
7propyl gallate439.8GSR, CYP2E1, SOD1
8primaquine43 49 1211.8CYB5R3, CYP3A4, HBG2, G6PD
9thiobarbituric acid439.7G6PD, HP, SOD1, GSR
103-amino-1,2,4-triazole439.7HBG2, SOD1, GSR
11gssg439.7GSR, HBG2, SOD1, G6PD
12methylene439.7HBG2, G6PD, CYB5R3, BLVRB
13sulfadiazine43 49 1211.6CYP2E1, G6PD, CYP3A4
14flavin439.6CYB5A, CYB5R3, BLVRB, GSR
15benzyl alcohol43 1210.5HBG2, CYP3A4, CYP2E1, SOD1
16alpha tocopherol439.5SOD1, GSR, G6PD, HBG2, CYB5A
17malondialdehyde439.5HBG2, SOD1, GSR, G6PD, HP
18benzphetamine43 1210.5CYP2E1, CYB5A, CYP3A4
19uric acid43 2410.5G6PD, HP, GSR, HBG2, SOD1
20nitroglycerin43 1210.5GSR, SOD1, BLVRB, HBG2
21methimazole43 2 1211.4CYP3A4, G6PD, GSR, CYP2E1
22diethyl dithiocarbamate439.4CYP2E1, CYP3A4, GSR, SOD1
23dapsone43 2 49 1212.4CYB5R3, CYP2E1, CYP3A4, HBG2, G6PD
24acetaminophen43 2 49 24 1213.4CYB5A, CYP2E1, G6PD, CYP3A4, HBG2
25tocopherol439.3CYB5A, HBG2, SOD1, G6PD, HP, GSR
26vitamin-e439.3SOD1, HBG2, CYB5A, G6PD, HP, GSR
27dmso439.2HBB, G6PD, CYP2E1, SOD1, CYB5A
28menadione43 24 1211.2CYB5R3, CYP2E1, CYB5A, HBG2, SOD1, GSR
294-hydroxynonenal43 2410.2CYP2E1, SOD1, G6PD, GSR
30carbon439.2G6PD, HBG2, CYB5A, CYP2E1, BLVRB
31methoxyflurane49 43 1211.2CYP3A4, CYB5A, CYP2E1
32quinine43 28 2 49 1213.2CYP2E1, G6PD, CYP3A4, BLVRB
33metoclopramide43 49 1211.1CYB5R3, CYB5R4, CYB5R2, CYB5R1
34glucose 6-phosphate43 2410.0SOD1, HBB, G6PD, GSR, HBG2, CYB5R3
35NADP248.9CYP2E1, CYP3A4, G6PD, GSR, BLVRB
36epinephrine43 24 1210.9GSR, HP, HBG2, G6PD, CYP3A4
37iron43 249.9CYB5R3, BLVRB, HP, CYB5A, SOD1, HBB
38superoxide43 249.8SOD1, GSR, CYB5R3, HBG2, CYB5A, BLVRB
39creatinine438.8GSR, HP, SOD1, CYP2E1, HBG2, G6PD
40ascorbic acid43 249.7GSR, HP, G6PD, SOD1, HBG2, CYB5A
41arginine438.7HBG2, CYB5R3, BLVRB, SOD1, GSR, HBB
42lactate438.6CYB5A, HBG2, HP, HBB, CYP2E1, G6PD
43heme28 24 1210.6CYB5R4, CYP2E1, CYB5A, CYP3A4, HBG2, HBB
44lipid438.5HBG2, CYB5R3, CYP2E1, SOD1, G6PD, HP
45h2o2438.4G6PD, HP, CYB5R3, GSR, HBB, CYP2E1
46nadph43 249.1CYB5R3, CYP2E1, CYB5A, CYP3A4, SOD1, G6PD
47FAD248.0CYB5R1, CYB5R3, CYB5R2, CYB5R4, GSR, CYB5RL
48oxygen43 249.0CYB5R3, GSR, G6PD, SOD1, HBB, CYP2E1
49nad28 248.6CYB5R1, BLVRB, CYB5R2, GSR, CYB5RL, CYB5R3
50nadh43 24 128.6G6PD, CYB5R1, GSR, SOD1, HBG2, CYB5A

GO Terms for genes affiliated with Methemoglobinemia

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Cellular components related to Methemoglobinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:003183810.0HP, HBB
2hemoglobin complexGO:00058339.8HBB, HBG2, CYB5R3
3endocytic vesicle lumenGO:00716829.6HBB, HP
4blood microparticleGO:00725629.6HP, HBB, HBG2
5mitochondrionGO:00057398.4SOD1, CYB5R1, CYP2E1, CYB5R3, CYB5R2
6extracellular vesicular exosomeGO:00700628.0BLVRB, CYB5R1, HBB, SOD1, G6PD, HP

Biological processes related to Methemoglobinemia according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1L-ascorbic acid metabolic processGO:001985210.0CYB5R3, CYB5A
2NADP metabolic processGO:000673910.0CYB5R4, G6PD
3heterocycle metabolic processGO:00464839.9CYP2E1, CYP3A4
4monoterpenoid metabolic processGO:00160989.9CYP3A4, CYP2E1
5glutathione metabolic processGO:00067499.8SOD1, G6PD, GSR
6response to hydrogen peroxideGO:00425429.8HBB, SOD1, HP
7superoxide metabolic processGO:00068019.7CYB5R4, SOD1
8drug metabolic processGO:00171449.7CYP3A4, CYP2E1
9positive regulation of cell deathGO:00109429.6HBB, HP
10response to ethanolGO:00454719.6SOD1, CYP2E1, G6PD
11sterol biosynthetic processGO:00161269.4CYB5R1, CYB5R2
12oxidation-reduction processGO:00551148.6CYB5R4, G6PD, HBB, CYP3A4, CYP2E1, CYB5R2
13small molecule metabolic processGO:00442818.2HBB, G6PD, GSR, CYP3A4, CYB5A, CYP2E1

Molecular functions related to Methemoglobinemia according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1hemoglobin bindingGO:003049210.0HBB, HP
2monooxygenase activityGO:00044979.7CYP3A4, CYP2E1
3oxygen transporter activityGO:00053449.7HBG2, HBB
4flavin adenine dinucleotide bindingGO:00506609.6CYB5R4, 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:00167129.6CYP2E1, CYP3A4
6oxygen bindingGO:00198259.3CYP2E1, CYP3A4, HBG2, HBB
7iron ion bindingGO:00055069.3CYP2E1, CYP3A4, HBG2, HBB
8heme bindingGO:00200378.8HBB, HBG2, CYP3A4, CYB5A, CYP2E1, CYB5R4
9cytochrome-b5 reductase activity, acting on NAD(P)HGO:00041288.1CYB5R1, CYB5RL, CYB5R3, CYB5R2, CYB5R4

Products for genes affiliated with Methemoglobinemia

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Sources for Methemoglobinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet