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 41 73
Hemoglobin M Disease 73

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, testes 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:

41
Heart, Testes, Liver, Kidney, Spleen

Publications for Congenital Methemoglobinemia

Articles related to Congenital Methemoglobinemia:

(show top 50) (show all 85)
# Title Authors Year
1
A new mutation of congenital methemoglobinemia exacerbated after methylene blue treatment. ( 29657736 )
2018
2
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
3
Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature. ( 29721250 )
2018
4
Congenital methemoglobinemia type II in a 5-year-old boy. ( 29375859 )
2018
5
Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH-Cytochrome B5 Reductase Gene. ( 29356095 )
2018
6
Enzymopenic Congenital Methemoglobinemia in Children of the Republic of Sakha (Yakutia). ( 27879543 )
2017
7
Anesthetic management of congenital methemoglobinemia in an emergency cesarean section. ( 29109650 )
2017
8
Congenital Methemoglobinemia: It is Time for National Level Registry System. ( 28991125 )
2017
9
Recessive congenital methemoglobinemia in immediate generations. ( 27922248 )
2016
10
Congenital methemoglobinemia type 2 and cerebellar atrophy/hypoplasia. ( 26133947 )
2015
11
Congenital Methemoglobinemia Type II-Clinical Improvement with Short-Term Methylene Blue Treatment. ( 26574897 )
2015
12
A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II. ( 28649542 )
2015
13
Corneal epitheliopathy in congenital methemoglobinemia. ( 24503601 )
2014
14
The Role of Preoperative Evaluation for Congenital Methemoglobinemia. ( 27366424 )
2014
15
Congenital methemoglobinemia in a dog with a promoter deletion and a nonsynonymous coding variant in the gene encoding cytochrome ba88. ( 25145387 )
2014
16
Late Diagnosis of Congenital Methemoglobinemia in an Elderly Patient During Cardiac Surgery. ( 23725685 )
2013
17
[Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia]. ( 23866629 )
2013
18
Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India. ( 24266649 )
2013
19
Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22. ( 22658170 )
2012
20
Recessive congenital methemoglobinemia due to NADH-cytochrome b5 reductase deficiency associated with recurrent early pregnancy loss (REPL) in an Indian family. ( 22797852 )
2012
21
Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: compound heterozygous for NADH-cytochrome b5 reductase gene mutations. ( 21328435 )
2011
22
A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II. ( 19480335 )
2009
23
Anesthetic management of a patient with congenital methemoglobinemia. ( 19762306 )
2009
24
A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia. ( 19579085 )
2009
25
Hemoglobin M variant and congenital methemoglobinemia: methylene blue will not be effective in the presence of hemoglobin M. ( 18566207 )
2008
26
Hemoglobin M variant and congenital methemoglobinemia: methylene blue will not be effective in the presence of hemoglobin M. ( 18245076 )
2008
27
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
28
Prophylactic methylene blue in a patient with congenital methemoglobinemia. ( 15753496 )
2005
29
Congenital methemoglobinemia caused by Hb-MRatnagiri (beta-63CAT-->TAT, His-->Tyr) in an Indian family. ( 15929117 )
2005
30
A case with quadriparetic cerebral palsy and cyanosis: congenital methemoglobinemia. ( 16087059 )
2005
31
Methylene blue in congenital methemoglobinemia: prophylactic or on demand? ( 16189344 )
2005
32
Cytochrome b5 reductase: the roles of the recessive congenital methemoglobinemia mutants P144L, L148P, and R159*. ( 15488472 )
2004
33
Anesthetic management of a patient with congenital methemoglobinemia. ( 15567652 )
2004
34
Congenital methemoglobinemia: a rare cause of cyanosis in the newborn--a case report. ( 12897322 )
2003
35
Introduction: congenital methemoglobinemia revisited. ( 12411314 )
2002
36
Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families. ( 12803131 )
2002
37
Severe oxyhemoglobin desaturation during induction of anesthesia in a patient with congenital methemoglobinemia. ( 11685006 )
2001
38
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
39
Congenital methemoglobinemia. ( 10832246 )
2000
40
Comments on congenital methemoglobinemia. ( 11105433 )
2000
41
A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia. ( 10807796 )
2000
42
Molecular mechanism of recessive congenital methemoglobinemia in Chinese pedigrees. ( 11721467 )
1999
43
Cyanosis and congenital methemoglobinemia in a puppy. ( 9934925 )
1999
44
Antibody-based spot test for NADH-cytochrome b5 reductase activity for the laboratory diagnosis of congenital methemoglobinemia. ( 9620466 )
1998
45
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
46
[Congenital methemoglobinemia]. ( 8657061 )
1995
47
[Congenital methemoglobinemia found in an adult. Case report]. ( 7491353 )
1995
48
Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II. ( 7718898 )
1995
49
A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism. ( 8168836 )
1994
50
New variant of cytochrome b5 reductase deficiency (b5RKurashiki) in red cells, platelets, lymphocytes, and cultured fibroblasts with congenital methemoglobinemia, mental and neurological retardation, and skeletal anomalies. ( 1503085 )
1992

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 extracellular exosome GO:0070062 9.46 CYB5A CYB5R3 G6PD SOD1
2 mitochondrial outer membrane GO:0005741 8.96 CYB5A CYB5R3
3 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....