MCID: CNG223
MIFTS: 25

Congenital Methemoglobinemia

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Methemoglobinemia

MalaCards integrated aliases for Congenital Methemoglobinemia:

Name: Congenital Methemoglobinemia 41 72
Hemoglobin M Disease 72

Classifications:



External Ids:

UMLS 72 C0272087 C3665425

Summaries for Congenital Methemoglobinemia

MalaCards based summary : Congenital Methemoglobinemia, also known as hemoglobin m disease, is related to hereditary methemoglobinemia and methemoglobinemia. An important gene associated with Congenital Methemoglobinemia is CYB5R3 (Cytochrome B5 Reductase 3), and among its related pathways/superpathways is Methylene Blue Pathway, Pharmacodynamics. Affiliated tissues include kidney, brain and liver.

Related Diseases for Congenital Methemoglobinemia

Diseases in the Methemoglobinemia family:

Methemoglobinemia, Beta Type Methemoglobinemia, Alpha Type
Congenital Methemoglobinemia Hereditary Methemoglobinemia
Acquired Methemoglobinemia

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 hereditary methemoglobinemia 32.1 HBG2 CYB5R3 CYB5A
2 methemoglobinemia 29.5 HBG2 G6PD CYB5R3 CYB5A
3 acquired methemoglobinemia 29.0 HBG2 G6PD CYB5R3
4 methemoglobinemia due to deficiency of methemoglobin reductase 12.3
5 methemoglobinemia, beta-globin type 11.7
6 obsolete: recessive hereditary methemoglobinemia type 1 11.3
7 obsolete: recessive hereditary methemoglobinemia type 2 11.3
8 cyanosis, transient neonatal 10.6
9 methemoglobin reductase deficiency 10.3
10 autosomal recessive disease 10.1
11 microcephaly 10.1
12 methemoglobinemia and ambiguous genitalia 10.0
13 polycythemia vera 9.9
14 tricuspid atresia 9.9
15 leukodystrophy 9.9
16 patent foramen ovale 9.9
17 mitral valve stenosis 9.9
18 cerebral palsy 9.9
19 spondylosis 9.9
20 hemoglobinopathy 9.9
21 movement disease 9.9
22 dystonia 9.9
23 polycythemia 9.9
24 critical congenital heart disease 9.9
25 encephalopathy 9.9
26 hypertonia 9.9
27 meningococcal infection 9.7 SOD1 G6PD
28 glucosephosphate dehydrogenase deficiency 9.7 HBG2 G6PD
29 senile cataract 9.7 SOD1 G6PD
30 sickle cell disease 9.7 HBG2 G6PD
31 hemoglobin h disease 9.6 HBG2 G6PD
32 hyperphenylalaninemia 9.6 SOD1 G6PD
33 sickle cell anemia 9.6 HBG2 G6PD
34 alpha-thalassemia 9.5 HBG2 G6PD
35 beta-thalassemia 9.5 HBG2 G6PD
36 deficiency anemia 9.4 HBG2 G6PD
37 hemolytic anemia 9.2 HBG2 G6PD

Graphical network of the top 20 diseases related to Congenital Methemoglobinemia:



Diseases related to Congenital Methemoglobinemia

Symptoms & Phenotypes for Congenital Methemoglobinemia

Drugs & Therapeutics for Congenital Methemoglobinemia

Search Clinical Trials , NIH Clinical Center for Congenital Methemoglobinemia

Genetic Tests for Congenital Methemoglobinemia

Anatomical Context for Congenital Methemoglobinemia

MalaCards organs/tissues related to Congenital Methemoglobinemia:

41
Kidney, Brain, Liver, Heart, Spleen, Placenta, Cerebellum

Publications for Congenital Methemoglobinemia

Articles related to Congenital Methemoglobinemia:

(show top 50) (show all 180)
# Title Authors PMID Year
1
Diagnosis of Hemoglobin M Disease in a Toddler Presenting With Hypoxemia and Hemolysis. 38
31431070 2019
2
Exon sequencing of the alpha-2-globin gene for the differential diagnosis of central cyanosis in newborns: a case report. 38
31269924 2019
3
Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene. 38
30614390 2019
4
Genetic cause for congenital methemoglobinemia in an Australian Pomeranian dog. 38
30767280 2019
5
Congenital Methemoglobinemia Identified by Pulse Oximetry Screening. 38
30733239 2019
6
'Acute leukemia in congenital methehemoglobinemia - an enigma to explore'. 38
30788079 2019
7
Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I. 38
29482478 2018
8
Failure of Pulse Oximetry and Cooximetry as Monitors in a Patient With Hemoglobin MIwate: A Case Report. 38
29293483 2018
9
[Cyanosis in 14-year-old patient. Methemoglobinemia: case report]. 38
29756717 2018
10
The Acute Treatment of Methemoglobinemia in Pregnancy. 38
29627348 2018
11
A new mutation of congenital methemoglobinemia exacerbated after methylene blue treatment. 38
29657736 2018
12
Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature. 38
29721250 2018
13
Congenital methemoglobinemia type II in a 5-year-old boy. 38
29375859 2018
14
Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH-Cytochrome B5 Reductase Gene. 38
29356095 2018
15
Congenital Methemoglobinemia: It is Time for National Level Registry System. 38
28991125 2017
16
Anesthetic management of congenital methemoglobinemia in an emergency cesarean section. 38
29109650 2017
17
Patient with Persistent Low Oxygen Saturation for Emergency Cesarean Section. 38
28928588 2017
18
Methemoglobinemia: Living with Dormant Devil. 38
28428705 2017
19
A microplate reader-based method to quantify NADH-cytochrome b5 reductase activity for diagnosis of recessive congenital methaemoglobinemia. 38
27863456 2017
20
Enzymopenic Congenital Methemoglobinemia in Children of the Republic of Sakha (Yakutia). 38
27879543 2017
21
Congenital methemoglobinemia type 2 and cerebellar atrophy/hypoplasia. 38
26133947 2016
22
High expression of cytochrome b 5 reductase isoform 3/cytochrome b 5 system in the cerebellum and pyramidal neurons of adult rat brain. 38
25850901 2016
23
Hemoglobin M Disease as a Cause of Cyanosis in a Newborn. 38
26694193 2016
24
Congenital Methemoglobinemia Type II-Clinical Improvement with Short-Term Methylene Blue Treatment. 38
26574897 2016
25
Recessive congenital methemoglobinemia in immediate generations. 38
27922248 2016
26
A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II. 38
28649542 2015
27
Congenital Recessive Methemoglobinemia Revealed in Adulthood: Description of a New Mutation in Cytochrome b5 Reductase Gene. 38
26226898 2015
28
Congenital Recessive Methemoglobinemia Revealed in Adulthood: Description of a New Mutation in Cytochrome b5 Reductase Gene. 38
26291966 2015
29
Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India. 38
24266649 2015
30
Methemoglobinemia due to quinine causing severe acute kidney injury in a child. 38
25484537 2014
31
Congenital methemoglobinemia in a dog with a promoter deletion and a nonsynonymous coding variant in the gene encoding cytochrome b₅. 38
25145387 2014
32
The Role of Preoperative Evaluation for Congenital Methemoglobinemia. 38
27366424 2014
33
Late diagnosis of congenital methemoglobinemia in an elderly patient during cardiac surgery. 38
23725685 2014
34
Human cytochrome b5 reductase: structure, function, and potential applications. 38
23113554 2014
35
Corneal epitheliopathy in congenital methemoglobinemia. 38
24503601 2014
36
[Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia]. 38
23866629 2013
37
Recessive congenital methemoglobinemia due to NADH-cytochrome b5 reductase deficiency associated with recurrent early pregnancy loss (REPL) in an Indian family. 38
22797852 2012
38
Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22. 38
22658170 2012
39
A methemoglobinemia case who was previously diagnosed and treated as asthma. 38
26029594 2012
40
Dapsone-induced methemoglobinemia: a dose-related occurrence? 38
21246536 2011
41
Molecular basis of two novel mutations found in type I methemoglobinemia. 38
21349748 2011
42
Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: compound heterozygous for NADH-cytochrome b5 reductase gene mutations. 38
21328435 2011
43
Anesthetic management of a patient with congenital methemoglobinemia. 38
19762306 2009
44
A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia. 38
19579085 2009
45
A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II. 38
19480335 2009
46
[Establishment of a cellular model with human NADH-cytochrome b5 reductase deficiency via RNA interference]. 38
18683136 2008
47
Hemoglobin M variant and congenital methemoglobinemia: methylene blue will not be effective in the presence of hemoglobin M. 38
18566207 2008
48
A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia. 38
17964195 2008
49
Hemoglobin M variant and congenital methemoglobinemia: methylene blue will not be effective in the presence of hemoglobin M. 38
18245076 2008
50
Expression of a novel P275L variant of NADH:cytochrome b5 reductase gives functional insight into the conserved motif important for pyridine nucleotide binding. 38
16469290 2006

Variations for Congenital Methemoglobinemia

Expression for Congenital Methemoglobinemia

Search GEO for disease gene expression data for Congenital Methemoglobinemia.

Pathways for Congenital Methemoglobinemia

Pathways related to Congenital Methemoglobinemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.4 G6PD CYB5R3 CYB5A

GO Terms for Congenital Methemoglobinemia

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial outer membrane GO:0005741 8.96 CYB5R3 CYB5A
2 hemoglobin complex GO:0005833 8.62 HBG2 CYB5R3

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

# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.37 SOD1 G6PD
2 cellular response to oxidative stress GO:0034599 9.32 SOD1 G6PD
3 glutathione metabolic process GO:0006749 9.26 SOD1 G6PD
4 oxidation-reduction process GO:0055114 9.26 SOD1 G6PD CYB5R3 CYB5A
5 cholesterol biosynthetic process GO:0006695 9.16 G6PD CYB5R3
6 L-ascorbic acid metabolic process GO:0019852 8.62 CYB5R3 CYB5A

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 8.96 HBG2 CYB5A
2 oxidoreductase activity GO:0016491 8.8 SOD1 G6PD CYB5R3

Sources for Congenital Methemoglobinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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