MCID: MTH064
MIFTS: 36

Methemoglobinemia, Beta-Globin Type

Categories: Blood diseases, Rare 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 hemoglobinopathy and congenital methemoglobinemia. 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 lung and skin, 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 hemoglobinopathy 29.3 HBA1 HBA2 HBB
2 congenital methemoglobinemia 12.3
3 methemoglobinemia due to deficiency of methemoglobin reductase 12.0
4 hereditary methemoglobinemia 11.8
5 methemoglobinemia, alpha type 11.1
6 methemoglobinemia 10.8
7 methemoglobin reductase deficiency 10.2
8 hemoglobin zurich 10.0 HBA2 HBB
9 hypochromic microcytic anemia 9.9 HBA2 HBB
10 rubeosis iridis 9.9 HBA2 HBB
11 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 9.9 HBA1 HBA2
12 sickle cell disease 9.9 HBA2 HBB
13 diabetes mellitus, insulin-dependent, 24 9.9 HBA1 HBA2
14 hydrops fetalis, nonimmune 9.9 HBA1 HBA2
15 hydrops fetalis 9.9 HBA1 HBA2
16 immune hydrops fetalis 9.9 HBA1 HBA2
17 hypoglycemic coma 9.9 HBA1 HBA2
18 erythrocytosis, familial, 7 9.9 HBA1 HBA2
19 type 1 diabetes mellitus 7 9.9 HBA1 HBA2
20 type 1 diabetes mellitus 11 9.9 HBA1 HBA2
21 immature cataract 9.9 HBA1 HBA2
22 polycythemia vera 9.9
23 tricuspid atresia 9.9
24 cerebral palsy 9.9
25 polycythemia 9.9
26 microcytic anemia 9.9 HBA1 HBA2
27 congenital hemolytic anemia 9.9 HBA2 HBB
28 retinal vascular disease 9.8 HBA1 HBA2
29 deficiency anemia 9.8 HBA2 HBB
30 glucose metabolism disease 9.8 HBA1 HBA2
31 glutathione peroxidase deficiency 9.7 HBA1 HBA2 HBB
32 heinz body anemias 9.7 HBA1 HBA2 HBB
33 alpha thalassemia-intellectual disability syndrome type 1 9.7 HBA1 HBA2 HBB
34 thalassemia 9.7 HBA1 HBA2 HBB
35 hemoglobin h disease 9.7 HBA1 HBA2 HBB
36 sickle cell anemia 9.7 HBA1 HBA2 HBB
37 alpha-thalassemia 9.7 HBA1 HBA2 HBB
38 beta-thalassemia 9.7 HBA1 HBA2 HBB
39 hemolytic anemia 9.7 HBA1 HBA2 HBB
40 malaria 9.6 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 HBA1 HBA2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.91 HBA1 HBA2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.91 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 HBA1 HBA2
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 HBA1 HBA2

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

Publications for Methemoglobinemia, Beta-Globin Type

Articles related to Methemoglobinemia, Beta-Globin Type:

# Title Authors Year
1
Hemoglobin M Disease as a Cause of Cyanosis in a Newborn. ( 26694193 )
2016
2
Hemoglobin-M disease. ( 4746251 )
1973
3
Symposium: Hemoglobinopathies in Japan. 4. Molecular basis of the clinical signs in hemoglobin M disease. ( 5753627 )
1968
4
Hemoglobin M disease in Japan. ( 5856115 )
1965
5
A new variant of hemoglobin M disease: hemoglobin M-Chicago. ( 14452533 )
1962

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
7 HBA1 NM_000558.4(HBA1): c.175C> T (p.His59Tyr) single nucleotide variant other rs35213748 GRCh37 Chromosome 16, 227007: 227007
8 HBA1 NM_000558.4(HBA1): c.175C> T (p.His59Tyr) single nucleotide variant other rs35213748 GRCh38 Chromosome 16, 177008: 177008
9 HBA1 NM_000558.4(HBA1): c.262C> T (p.His88Tyr) single nucleotide variant other rs28928876 GRCh37 Chromosome 16, 227094: 227094
10 HBA1 NM_000558.4(HBA1): c.262C> T (p.His88Tyr) single nucleotide variant other rs28928876 GRCh38 Chromosome 16, 177095: 177095

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 exosome GO:0070062 9.58 HBA1 HBA2 HBB
2 extracellular space GO:0005615 9.54 HBA1 HBA2 HBB
3 blood microparticle GO:0072562 9.43 HBA1 HBA2 HBB
4 endocytic vesicle lumen GO:0071682 9.33 HBA1 HBA2 HBB
5 cytosolic small ribosomal subunit GO:0022627 9.32 HBA1 HBA2
6 hemoglobin complex GO:0005833 9.13 HBA1 HBA2 HBB
7 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 heme binding GO:0020037 9.54 HBA1 HBA2 HBB
2 oxygen binding GO:0019825 9.5 HBA1 HBA2 HBB
3 peroxidase activity GO:0004601 9.43 HBA1 HBA2 HBB
4 iron ion binding GO:0005506 9.4 HBA1 HBA2
5 oxygen carrier activity GO:0005344 9.33 HBA1 HBA2 HBB
6 organic acid binding GO:0043177 9.13 HBA1 HBA2 HBB
7 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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