MCID: MTH064
MIFTS: 39

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 53 25 29
Hemoglobin M Disease 53 25 59 73
Congenital Methemoglobinemia 25 73
Blue Baby Syndrome 53 25
M Hemoglobinopathy 53 59
Hereditary Methemoglobinemia Due to Hemoglobin Mutation 53
Autosomal Dominant Methemoglobinemia 53
Hemoglobin M 6

Characteristics:

Orphanet epidemiological data:

59
hemoglobin m disease
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Orphanet 59 ORPHA330041
ICD10 via Orphanet 34 D74.0

Summaries for Methemoglobinemia, Beta-Globin Type

Genetics Home Reference : 25 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 Folate Metabolism. The drugs Methylene blue and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include lung, skin 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 40)
# Related Disease Score Top Affiliating Genes
1 congenital methemoglobinemia 12.2
2 methemoglobinemia due to deficiency of methemoglobin reductase 11.9
3 hereditary methemoglobinemia 11.6
4 methemoglobinemia 10.7
5 methemoglobin reductase deficiency 10.1
6 type i 10.0
7 pyruvate dehydrogenase e3-binding protein deficiency 9.9
8 aging 9.9
9 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 9.8 HBA1 HBA2
10 hydrops fetalis, nonimmune 9.7 HBA1 HBA2
11 cerebritis 9.7
12 polycythemia 9.7
13 polycythemia vera 9.7
14 tricuspid atresia 9.7
15 cerebral palsy 9.7
16 diabetes mellitus, insulin-dependent, 24 9.7 HBA1 HBA2
17 hypoglycemic coma 9.7 HBA1 HBA2
18 type 1 diabetes mellitus 7 9.7 HBA1 HBA2
19 type 1 diabetes mellitus 11 9.7 HBA1 HBA2
20 immature cataract 9.6 HBA1 HBA2
21 hemoglobin zurich 9.6 HBA2 HBB
22 hydrops fetalis 9.6 HBA1 HBA2
23 hypochromic microcytic anemia 9.5 HBA2 HBB
24 microcytic anemia 9.5 HBA1 HBA2
25 rubeosis iridis 9.5 HBA2 HBB
26 sickle cell disease 9.4 HBA2 HBB
27 retinal vascular disease 9.4 HBA1 HBA2
28 congenital hemolytic anemia 9.2 HBA2 HBB
29 glucose metabolism disease 9.2 HBA1 HBA2
30 glutathione peroxidase deficiency 9.1 HBA1 HBA2 HBB
31 heinz body anemias 9.1 HBA1 HBA2 HBB
32 hemoglobin h disease 9.0 HBA1 HBA2 HBB
33 hemoglobinopathy 9.0 HBA1 HBA2 HBB
34 sickle cell anemia 9.0 HBA1 HBA2 HBB
35 alpha-thalassemia 9.0 HBA1 HBA2 HBB
36 thalassemia 9.0 HBA1 HBA2 HBB
37 beta-thalassemia 9.0 HBA1 HBA2 HBB
38 hemolytic anemia 9.0 HBA1 HBA2 HBB
39 deficiency anemia 8.9 HBA2 HBB
40 malaria 8.8 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:

26
# 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 HBA2 HBA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.7 HBA2 HBA1
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 Completed 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 29

Anatomical Context for Methemoglobinemia, Beta-Globin Type

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

41
Lung, Skin, Heart, Testes, Liver, Kidney, Spleen

Publications for Methemoglobinemia, Beta-Globin Type

Articles related to Methemoglobinemia, Beta-Globin Type:

(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 &amp;gt; 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--&amp;gt;TAT, His--&amp;gt;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 Methemoglobinemia, Beta-Globin Type

ClinVar genetic disease variations for Methemoglobinemia, Beta-Globin Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.203T> A (p.Val68Glu) single nucleotide variant Pathogenic rs33918343 GRCh37 Chromosome 11, 5247919: 5247919
2 HBB NM_000518.4(HBB): c.203T> A (p.Val68Glu) single nucleotide variant Pathogenic rs33918343 GRCh38 Chromosome 11, 5226689: 5226689
3 HBB NM_000518.4(HBB): c.277C> T (p.His93Tyr) single nucleotide variant Pathogenic rs33924775 GRCh37 Chromosome 11, 5247845: 5247845
4 HBB NM_000518.4(HBB): c.277C> T (p.His93Tyr) single nucleotide variant Pathogenic rs33924775 GRCh38 Chromosome 11, 5226615: 5226615
5 HBB NM_000518.4(HBB): c.190C> T (p.His64Tyr) single nucleotide variant Pathogenic rs33922873 GRCh37 Chromosome 11, 5247932: 5247932
6 HBB NM_000518.4(HBB): c.190C> T (p.His64Tyr) single nucleotide variant Pathogenic rs33922873 GRCh38 Chromosome 11, 5226702: 5226702

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 receptor-mediated endocytosis GO:0006898 9.61 HBA1 HBA2 HBB
2 cellular oxidant detoxification GO:0098869 9.58 HBA1 HBA2 HBB
3 protein heterooligomerization GO:0051291 9.54 HBA1 HBA2 HBB
4 response to hydrogen peroxide GO:0042542 9.5 HBA1 HBA2 HBB
5 positive regulation of cell death GO:0010942 9.43 HBA1 HBA2 HBB
6 bicarbonate transport GO:0015701 9.33 HBA1 HBA2 HBB
7 hydrogen peroxide catabolic process GO:0042744 9.13 HBA1 HBA2 HBB
8 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
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
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