MCID: CNG223
MIFTS: 30

Congenital Methemoglobinemia

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Methemoglobinemia

MalaCards integrated aliases for Congenital Methemoglobinemia:

Name: Congenital Methemoglobinemia 42 74
Hemoglobin M Disease 74

Classifications:



External Ids:

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. The drugs Methylene blue and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and liver.

Related Diseases for Congenital Methemoglobinemia

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

Drugs for Congenital Methemoglobinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylene blue Approved, Investigational Phase 1 61-73-4
2 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety, Tolerability, and Pharmacokinetic Study of Methylene Blue Following a 1 mg/kg Intravenous Dose in Healthy Adults Completed NCT02478281 Phase 1 Methylene Blue
2 Study of Methemoglobin as a Biomarker of Tissue Hypoxia During Acute Hemodilution in Heart Surgery Patients Completed NCT01883713

Search NIH Clinical Center for Congenital Methemoglobinemia

Genetic Tests for Congenital Methemoglobinemia

Anatomical Context for Congenital Methemoglobinemia

MalaCards organs/tissues related to Congenital Methemoglobinemia:

42
Heart, Kidney, Liver, Testes, Spleen

Publications for Congenital Methemoglobinemia

Articles related to Congenital Methemoglobinemia:

(show top 50) (show all 93)
# Title Authors Year
1
Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene. ( 30614390 )
2019
2
Congenital Methemoglobinemia Identified by Pulse Oximetry Screening. ( 30733239 )
2019
3
Genetic cause for congenital methemoglobinemia in an Australian Pomeranian dog. ( 30767280 )
2019
4
Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH-Cytochrome B5 Reductase Gene. ( 29356095 )
2018
5
Congenital methemoglobinemia type II in a 5-year-old boy. ( 29375859 )
2018
6
Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I. ( 29482478 )
2018
7
A new mutation of congenital methemoglobinemia exacerbated after methylene blue treatment. ( 29657736 )
2018
8
Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature. ( 29721250 )
2018
9
Congenital Methemoglobinemia: It is Time for National Level Registry System. ( 28991125 )
2017
10
Anesthetic management of congenital methemoglobinemia in an emergency cesarean section. ( 29109650 )
2017
11
Enzymopenic Congenital Methemoglobinemia in Children of the Republic of Sakha (Yakutia). ( 27879543 )
2017
12
Congenital methemoglobinemia type 2 and cerebellar atrophy/hypoplasia. ( 26133947 )
2016
13
Congenital Methemoglobinemia Type II-Clinical Improvement with Short-Term Methylene Blue Treatment. ( 26574897 )
2016
14
Recessive congenital methemoglobinemia in immediate generations. ( 27922248 )
2016
15
Hemoglobin M Disease as a Cause of Cyanosis in a Newborn. ( 26694193 )
2016
16
Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India. ( 24266649 )
2015
17
A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II. ( 28649542 )
2015
18
Late diagnosis of congenital methemoglobinemia in an elderly patient during cardiac surgery. ( 23725685 )
2014
19
Corneal epitheliopathy in congenital methemoglobinemia. ( 24503601 )
2014
20
Congenital methemoglobinemia in a dog with a promoter deletion and a nonsynonymous coding variant in the gene encoding cytochrome b₅. ( 25145387 )
2014
21
The Role of Preoperative Evaluation for Congenital Methemoglobinemia. ( 27366424 )
2014
22
[Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia]. ( 23866629 )
2013
23
Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22. ( 22658170 )
2012
24
Recessive congenital methemoglobinemia due to NADH-cytochrome b5 reductase deficiency associated with recurrent early pregnancy loss (REPL) in an Indian family. ( 22797852 )
2012
25
Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: compound heterozygous for NADH-cytochrome b5 reductase gene mutations. ( 21328435 )
2011
26
A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II. ( 19480335 )
2009
27
A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia. ( 19579085 )
2009
28
Anesthetic management of a patient with congenital methemoglobinemia. ( 19762306 )
2009
29
Hemoglobin M variant and congenital methemoglobinemia: methylene blue will not be effective in the presence of hemoglobin M. ( 18245076 )
2008
30
Hemoglobin M variant and congenital methemoglobinemia: methylene blue will not be effective in the presence of hemoglobin M. ( 18566207 )
2008
31
Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant. ( 16310381 )
2006
32
Prophylactic methylene blue in a patient with congenital methemoglobinemia. ( 15753496 )
2005
33
Congenital methemoglobinemia caused by Hb-MRatnagiri (beta-63CAT-->TAT, His-->Tyr) in an Indian family. ( 15929117 )
2005
34
A case with quadriparetic cerebral palsy and cyanosis: congenital methemoglobinemia. ( 16087059 )
2005
35
Methylene blue in congenital methemoglobinemia: prophylactic or on demand? ( 16189344 )
2005
36
Cytochrome b5 reductase: the roles of the recessive congenital methemoglobinemia mutants P144L, L148P, and R159*. ( 15488472 )
2004
37
Anesthetic management of a patient with congenital methemoglobinemia. ( 15567652 )
2004
38
Congenital methemoglobinemia: a rare cause of cyanosis in the newborn--a case report. ( 12897322 )
2003
39
Introduction: congenital methemoglobinemia revisited. ( 12411314 )
2002
40
Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families. ( 12803131 )
2002
41
Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene. ( 11295830 )
2001
42
Severe oxyhemoglobin desaturation during induction of anesthesia in a patient with congenital methemoglobinemia. ( 11685006 )
2001
43
A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia. ( 10807796 )
2000
44
Congenital methemoglobinemia. ( 10832246 )
2000
45
Comments on congenital methemoglobinemia. ( 11105433 )
2000
46
Cyanosis and congenital methemoglobinemia in a puppy. ( 9934925 )
1999
47
Molecular mechanism of recessive congenital methemoglobinemia in Chinese pedigrees. ( 11721467 )
1999
48
Antibody-based spot test for NADH-cytochrome b5 reductase activity for the laboratory diagnosis of congenital methemoglobinemia. ( 9620466 )
1998
49
A novel mutation found in the 3' domain of NADH-cytochrome B5 reductase in an African-American family with type I congenital methemoglobinemia. ( 8639921 )
1996
50
Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II. ( 7718898 )
1995

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 CYB5A CYB5R3 G6PD

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 CYB5A CYB5R3
2 hemoglobin complex GO:0005833 8.62 CYB5R3 HBG2

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 G6PD SOD1
2 cellular response to oxidative stress GO:0034599 9.32 G6PD SOD1
3 glutathione metabolic process GO:0006749 9.26 G6PD SOD1
4 oxidation-reduction process GO:0055114 9.26 CYB5A CYB5R3 G6PD SOD1
5 cholesterol biosynthetic process GO:0006695 9.16 CYB5R3 G6PD
6 L-ascorbic acid metabolic process GO:0019852 8.62 CYB5A CYB5R3

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 CYB5A HBG2
2 oxidoreductase activity GO:0016491 8.8 CYB5R3 G6PD SOD1

Sources for Congenital Methemoglobinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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