MCID: MTH064
MIFTS: 38

Methemoglobinemia, Beta-Globin Type

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Methemoglobinemia, Beta-Globin Type

MalaCards integrated aliases for Methemoglobinemia, Beta-Globin Type:

Name: Methemoglobinemia, Beta-Globin Type 49 24 28
Hemoglobin M Disease 49 24 55 69
Congenital Methemoglobinemia 24 69
Blue Baby Syndrome 49 24
M Hemoglobinopathy 49 55
Hereditary Methemoglobinemia Due to Hemoglobin Mutation 49
Autosomal Dominant Methemoglobinemia 49

Characteristics:

Orphanet epidemiological data:

55
hemoglobin m disease
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Orphanet 55 ORPHA330041
ICD10 via Orphanet 33 D74.0

Summaries for Methemoglobinemia, Beta-Globin Type

Genetics Home Reference : 24 Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissues throughout the body. Instead of normal hemoglobin, people with methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, which is unable to efficiently deliver oxygen to the body's tissues. In methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a brown color. It also causes a bluish appearance of the skin, lips, and nails (cyanosis), which usually first appears around the age of 6 months. The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. However, in rare cases, severe methemoglobinemia, beta-globin type can cause headaches, weakness, and fatigue.

MalaCards based summary : Methemoglobinemia, Beta-Globin Type, also known as hemoglobin m disease, is related to congenital methemoglobinemia and methemoglobinemia due to deficiency of methemoglobin reductase. An important gene associated with Methemoglobinemia, Beta-Globin Type is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Vesicle-mediated transport and Selenium Micronutrient Network. The drugs Methylene blue and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Methemoglobinemia, Beta-Globin Type

Diseases related to Methemoglobinemia, Beta-Globin Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 congenital methemoglobinemia 12.2
2 methemoglobinemia due to deficiency of methemoglobin reductase 11.9
3 hereditary methemoglobinemia 11.2
4 methemoglobinemia 10.7
5 methemoglobin reductase deficiency 10.1
6 cyanosis, transient neonatal 9.9
7 blood group, i system 9.9
8 aging 9.9
9 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 9.8 HBA1 HBA2
10 hydrops fetalis, nonimmune 9.8 HBA1 HBA2
11 diabetes mellitus, insulin-dependent, 24 9.8 HBA1 HBA2
12 type 1 diabetes mellitus 7 9.8 HBA1 HBA2
13 type 1 diabetes mellitus 11 9.8 HBA1 HBA2
14 hydrops fetalis 9.8 HBA1 HBA2
15 immature cataract 9.8 HBA1 HBA2
16 immune hydrops fetalis 9.8 HBA1 HBA2
17 pyruvate dehydrogenase e3-binding protein deficiency 9.7
18 tricuspid atresia 9.7
19 cerebral palsy 9.7
20 cerebritis 9.7
21 hypochromic microcytic anemia 9.7 HBA2 HBB
22 microcytic anemia 9.7 HBA1 HBA2
23 rubeosis iridis 9.7 HBA2 HBB
24 retinal vascular disease 9.7 HBA1 HBA2
25 sickle cell disease 9.7 HBA2 HBB
26 glucose metabolism disease 9.6 HBA1 HBA2
27 congenital hemolytic anemia 9.6 HBA2 HBB
28 deficiency anemia 9.4 HBA2 HBB
29 glutathione peroxidase deficiency 9.4 HBA1 HBA2 HBB
30 heinz body anemias 9.4 HBA1 HBA2 HBB
31 hemoglobin h disease 9.4 HBA1 HBA2 HBB
32 hemoglobinopathy 9.4 HBA1 HBA2 HBB
33 sickle cell anemia 9.4 HBA1 HBA2 HBB
34 alpha-thalassemia 9.4 HBA1 HBA2 HBB
35 thalassemia 9.4 HBA1 HBA2 HBB
36 beta-thalassemia 9.4 HBA1 HBA2 HBB
37 hemolytic anemia 9.3 HBA2 HBB
38 malaria 9.3 HBA1 HBA2 HBB

Graphical network of the top 20 diseases related to Methemoglobinemia, Beta-Globin Type:



Diseases related to Methemoglobinemia, Beta-Globin Type

Symptoms & Phenotypes for Methemoglobinemia, Beta-Globin Type

GenomeRNAi Phenotypes related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.91 HBA2 HBA1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.91 HBA2 HBA1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.91 HBA2 HBA1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 HBA2 HBA1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.7 HBA1 HBA2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.7 HBA1 HBA2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.7 HBA2 HBA1

Drugs & Therapeutics for Methemoglobinemia, Beta-Globin Type

Drugs for Methemoglobinemia, Beta-Globin Type (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 Unknown status NCT01883713

Search NIH Clinical Center for Methemoglobinemia, Beta-Globin Type

Genetic Tests for Methemoglobinemia, Beta-Globin Type

Genetic tests related to Methemoglobinemia, Beta-Globin Type:

# Genetic test Affiliating Genes
1 Methemoglobinemia, Beta-Globin Type 28

Anatomical Context for Methemoglobinemia, Beta-Globin Type

MalaCards organs/tissues related to Methemoglobinemia, Beta-Globin Type:

38
Skin, Lung, Heart

Publications for Methemoglobinemia, Beta-Globin Type

Articles related to Methemoglobinemia, Beta-Globin Type:

(show top 50) (show all 81)
# Title Authors Year
1
Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH-Cytochrome B5 Reductase Gene. ( 29356095 )
2018
2
Congenital methemoglobinemia type II in a 5-year-old boy. ( 29375859 )
2018
3
Anesthetic management of congenital methemoglobinemia in an emergency cesarean section. ( 29109650 )
2017
4
Enzymopenic Congenital Methemoglobinemia in Children of the Republic of Sakha (Yakutia). ( 27879543 )
2017
5
Congenital Methemoglobinemia: It is Time for National Level Registry System. ( 28991125 )
2017
6
Recessive congenital methemoglobinemia in immediate generations. ( 27922248 )
2016
7
A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II. ( 28649542 )
2015
8
Congenital methemoglobinemia type 2 and cerebellar atrophy/hypoplasia. ( 26133947 )
2015
9
Congenital Methemoglobinemia Type II-Clinical Improvement with Short-Term Methylene Blue Treatment. ( 26574897 )
2015
10
The Role of Preoperative Evaluation for Congenital Methemoglobinemia. ( 27366424 )
2014
11
Congenital methemoglobinemia in a dog with a promoter deletion and a nonsynonymous coding variant in the gene encoding cytochrome ba88. ( 25145387 )
2014
12
Corneal epitheliopathy in congenital methemoglobinemia. ( 24503601 )
2014
13
Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India. ( 24266649 )
2013
14
[Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia]. ( 23866629 )
2013
15
Late Diagnosis of Congenital Methemoglobinemia in an Elderly Patient During Cardiac Surgery. ( 23725685 )
2013
16
Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22. ( 22658170 )
2012
17
Recessive congenital methemoglobinemia due to NADH-cytochrome b5 reductase deficiency associated with recurrent early pregnancy loss (REPL) in an Indian family. ( 22797852 )
2012
18
Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: compound heterozygous for NADH-cytochrome b5 reductase gene mutations. ( 21328435 )
2011
19
Anesthetic management of a patient with congenital methemoglobinemia. ( 19762306 )
2009
20
A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia. ( 19579085 )
2009
21
A rare cause of mental motor retardation: recessive congenital methemoglobinemia type II. ( 19480335 )
2009
22
Hemoglobin M variant and congenital methemoglobinemia: methylene blue will not be effective in the presence of hemoglobin M. ( 18566207 )
2008
23
Hemoglobin M variant and congenital methemoglobinemia: methylene blue will not be effective in the presence of hemoglobin M. ( 18245076 )
2008
24
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
25
A case with quadriparetic cerebral palsy and cyanosis: congenital methemoglobinemia. ( 16087059 )
2005
26
Prophylactic methylene blue in a patient with congenital methemoglobinemia. ( 15753496 )
2005
27
Methylene blue in congenital methemoglobinemia: prophylactic or on demand? ( 16189344 )
2005
28
Congenital methemoglobinemia caused by Hb-MRatnagiri (beta-63CAT-->TAT, His-->Tyr) in an Indian family. ( 15929117 )
2005
29
Cytochrome b5 reductase: the roles of the recessive congenital methemoglobinemia mutants P144L, L148P, and R159*. ( 15488472 )
2004
30
Anesthetic management of a patient with congenital methemoglobinemia. ( 15567652 )
2004
31
Congenital methemoglobinemia: a rare cause of cyanosis in the newborn--a case report. ( 12897322 )
2003
32
Introduction: congenital methemoglobinemia revisited. ( 12411314 )
2002
33
Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families. ( 12803131 )
2002
34
Severe oxyhemoglobin desaturation during induction of anesthesia in a patient with congenital methemoglobinemia. ( 11685006 )
2001
35
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
36
A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia. ( 10807796 )
2000
37
Congenital methemoglobinemia. ( 10832246 )
2000
38
Comments on congenital methemoglobinemia. ( 11105433 )
2000
39
Molecular mechanism of recessive congenital methemoglobinemia in Chinese pedigrees. ( 11721467 )
1999
40
Cyanosis and congenital methemoglobinemia in a puppy. ( 9934925 )
1999
41
Antibody-based spot test for NADH-cytochrome b5 reductase activity for the laboratory diagnosis of congenital methemoglobinemia. ( 9620466 )
1998
42
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
43
[Congenital methemoglobinemia]. ( 8657061 )
1995
44
Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II. ( 7718898 )
1995
45
[Congenital methemoglobinemia found in an adult. Case report]. ( 7491353 )
1995
46
A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism. ( 8168836 )
1994
47
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
48
Congenital methemoglobinemia due to methemoglobin reductase deficiency in two unrelated American black families. ( 2220884 )
1990
49
Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency: report of a case. ( 3241162 )
1988
50
Congenital methemoglobinemia with cytochrome b5 deficiency. ( 3748110 )
1986

Variations for Methemoglobinemia, Beta-Globin Type

Expression for Methemoglobinemia, Beta-Globin Type

Search GEO for disease gene expression data for Methemoglobinemia, Beta-Globin Type.

Pathways for Methemoglobinemia, Beta-Globin Type

GO Terms for Methemoglobinemia, Beta-Globin Type

Cellular components related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.54 HBA1 HBA2 HBB
2 blood microparticle GO:0072562 9.43 HBA1 HBA2 HBB
3 endocytic vesicle lumen GO:0071682 9.33 HBA1 HBA2 HBB
4 cytosolic small ribosomal subunit GO:0022627 9.32 HBA1 HBA2
5 hemoglobin complex GO:0005833 9.13 HBA1 HBA2 HBB
6 haptoglobin-hemoglobin complex GO:0031838 8.8 HBA1 HBA2 HBB

Biological processes related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.63 HBA1 HBA2 HBB
2 receptor-mediated endocytosis GO:0006898 9.61 HBA1 HBA2 HBB
3 cellular oxidant detoxification GO:0098869 9.58 HBA1 HBA2 HBB
4 protein heterooligomerization GO:0051291 9.54 HBA1 HBA2 HBB
5 response to hydrogen peroxide GO:0042542 9.5 HBA1 HBA2 HBB
6 positive regulation of cell death GO:0010942 9.43 HBA1 HBA2 HBB
7 bicarbonate transport GO:0015701 9.33 HBA1 HBA2 HBB
8 hydrogen peroxide catabolic process GO:0042744 9.13 HBA1 HBA2 HBB
9 oxygen transport GO:0015671 8.8 HBA1 HBA2 HBB

Molecular functions related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.54 HBA1 HBA2 HBB
2 heme binding GO:0020037 9.5 HBA1 HBA2 HBB
3 oxygen binding GO:0019825 9.43 HBA1 HBA2 HBB
4 peroxidase activity GO:0004601 9.33 HBA1 HBA2 HBB
5 oxygen carrier activity GO:0005344 9.13 HBA1 HBA2 HBB
6 haptoglobin binding GO:0031720 8.8 HBA1 HBA2 HBB

Sources for Methemoglobinemia, Beta-Globin Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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