MCID: MTH064
MIFTS: 32

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 20 43 29 6
Hemoglobin M Disease 20 43 58 70
Congenital Methemoglobinemia 43 70
Blue Baby Syndrome 20 43
M Hemoglobinopathy 20 58
Hereditary Methemoglobinemia Due to Hemoglobin Mutation 20
Autosomal Dominant Methemoglobinemia 20
Hemoglobin M 6

Characteristics:

Orphanet epidemiological data:

58
hemoglobin m disease
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D74.0
Orphanet 58 ORPHA330041
UMLS 70 C0272087 C3665425

Summaries for Methemoglobinemia, Beta-Globin Type

MedlinePlus Genetics : 43 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 methemoglobinemia, beta type and methemoglobinemia. An important gene associated with Methemoglobinemia, Beta-Globin Type is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Binding and Uptake of Ligands by Scavenger Receptors and Malaria. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased 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 top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 methemoglobinemia, beta type 30.8 LOC110006319 LOC107133510 LOC106099062 HBB
2 methemoglobinemia 30.0 LOC107133510 LOC106099062 HBB HBA2 HBA1
3 polycythemia 29.3 HBB HBA2
4 splenomegaly 29.2 HBA2 HBA1
5 beta-thalassemia major 29.0 LOC110006319 LOC107133510 LOC106099062 HBB
6 hemolytic anemia 28.6 LOC107133510 LOC106099062 HBB HBA2 HBA1
7 heinz body anemias 28.0 LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
8 hemoglobinopathy 27.9 LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
9 beta-thalassemia 27.9 LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
10 thalassemia 27.9 LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
11 methemoglobinemia due to deficiency of methemoglobin reductase 11.6
12 congenital methemoglobinemia 11.5
13 methemoglobinemia, alpha type 11.1
14 cyanosis, transient neonatal 10.6
15 methemoglobin reductase deficiency 10.2
16 autosomal recessive disease 10.1
17 microcephaly 10.1
18 dihydrolipoamide dehydrogenase deficiency 10.0
19 methemoglobinemia and ambiguous genitalia 10.0
20 acquired methemoglobinemia 10.0
21 enterocolitis 9.9
22 heart disease 9.9
23 perinatal necrotizing enterocolitis 9.9
24 histiocytosis-lymphadenopathy plus syndrome 9.9 HBB HBA2
25 polycythemia vera 9.8
26 tricuspid atresia 9.8
27 pain agnosia 9.8
28 leukodystrophy 9.8
29 patent foramen ovale 9.8
30 mitral valve stenosis 9.8
31 cerebral palsy 9.8
32 spondylosis 9.8
33 movement disease 9.8
34 dystonia 9.8
35 critical congenital heart disease 9.8
36 encephalopathy 9.8
37 hypertonia 9.8
38 hemoglobin e-beta-thalassemia syndrome 9.8 LOC107133510 LOC106099062 HBB
39 sickle cell disease and related diseases 9.8 LOC107133510 LOC106099062 HBB
40 congenital hemolytic anemia 9.8 HBB HBA2
41 splenic infarction 9.8 LOC107133510 LOC106099062 HBB
42 hemoglobin c disease 9.8 LOC107133510 LOC106099062 HBB
43 microcytic anemia 9.8 HBA2 HBA1
44 hemoglobin e disease 9.8 LOC107133510 LOC106099062 HBB
45 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 9.8 HBA2 HBA1
46 immune hydrops fetalis 9.8 HBA2 HBA1
47 alpha thalassemia-intellectual disability syndrome type 1 9.8 HBA2 HBA1
48 hemoglobin d disease 9.7 LOC110006319 LOC107133510 HBB
49 erythrocytosis, familial, 7 9.7 HBA2 HBA1
50 hypoglycemic coma 9.7 HBA2 HBA1

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 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.53 HBA1 HBA2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.53 HBA1 HBA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.53 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.53 HBA1 HBA2

Drugs & Therapeutics for Methemoglobinemia, Beta-Globin Type

Search Clinical Trials , 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 HBB

Anatomical Context for Methemoglobinemia, Beta-Globin Type

Publications for Methemoglobinemia, Beta-Globin Type

Articles related to Methemoglobinemia, Beta-Globin Type:

(show all 27)
# Title Authors PMID Year
1
DNA sequence analysis proves Hb M-Milwaukee-2 is due to beta-globin gene codon 92 (CAC-->TAC), the presumed mutation of Hb M-Hyde Park and Hb M-Akita. 6
9494043 1998
2
Hb Tübingen [alpha 2 beta (2)106(G8)Leu-->Gln] in a Belgian Family. 6
8226097 1993
3
Hb-M "Hyde Park": a de novo mutation, identified by mass spectrometry and DNA analysis. 6
1398295 1992
4
Haemoglobin M-Hyde Park associated with polyagglutinable red blood cells in a South African family. 6
3377987 1988
5
Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family. 6
6311728 1983
6
DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene. 6
6309649 1983
7
Hb M Milwaukee in a German family. 6
604314 1977
8
Structural and functional characteristics of Hb Tübingen: beta 106 (G 8) Leu leads to Gln. 6
1278400 1976
9
Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations. 6
933112 1976
10
Haemoglobin Hiroshima and the mechanism of the alkaline Bohr effect. 6
5285571 1971
11
Properties of hemoglobin M, Milwaukee-I variant and its unique characteristic. 6
4311041 1969
12
Amino acid substitution in hemoglobin Makita. 6
5669922 1968
13
Mild homozygous beta-thalassemia. Further evidence for the heterogeneity of beta-thalassemia genes. 6
5900783 1966
14
Chemical studies of several varieties of Hb M. 6
13897827 1961
15
Clinical and laboratory features of two variants of methemoglobin M disease. 6
13665153 1959
16
Diagnosis of Hemoglobin M Disease in a Toddler Presenting With Hypoxemia and Hemolysis. 61
31431070 2019
17
Congenital Methemoglobinemia Identified by Pulse Oximetry Screening. 61
30733239 2019
18
Hemoglobin M Disease as a Cause of Cyanosis in a Newborn. 61
26694193 2016
19
[Hemoglobin M disease]. 61
8270817 1993
20
De novo mutations producing unstable Hbs or Hbs M. II. Direct estimates of minimum nucleotide mutation rates in man. 61
7076259 1982
21
Benzocaine-induced methemoglobinemia. 61
868824 1977
22
Hemoglobin-M disease. 61
4746251 1973
23
Symposium: Hemoglobinopathies in Japan. 4. Molecular basis of the clinical signs in hemoglobin M disease. 61
5753627 1968
24
Hemoglobin M disease in Japan. 61
5856115 1965
25
[HEMOGLOBIN M DISEASE IN JAPAN]. 61
14280635 1965
26
A new variant of hemoglobin M disease: hemoglobin M-Chicago. 61
14452533 1962
27
[Hemoglobin M disease]. 61
13911545 1962

Variations for Methemoglobinemia, Beta-Globin Type

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

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106804613 , HBA1 NM_000558.5(HBA1):c.175C>T (p.His59Tyr) SNV other 15778 rs35213748 GRCh37: 16:227007-227007
GRCh38: 16:177008-177008
2 LOC106804613 , HBA1 NM_000558.5(HBA1):c.175C>T (p.His59Tyr) SNV other 15778 rs35213748 GRCh37: 16:227007-227007
GRCh38: 16:177008-177008
3 LOC106804613 , HBA1 NM_000558.5(HBA1):c.175C>T (p.His59Tyr) SNV other 15778 rs35213748 GRCh37: 16:227007-227007
GRCh38: 16:177008-177008
4 LOC106804613 , HBA1 NM_000558.5(HBA1):c.175C>T (p.His59Tyr) SNV other 15778 rs35213748 GRCh37: 16:227007-227007
GRCh38: 16:177008-177008
5 LOC106804613 , HBA1 NM_000558.5(HBA1):c.262C>T (p.His88Tyr) SNV other 15779 rs28928876 GRCh37: 16:227094-227094
GRCh38: 16:177095-177095
6 LOC106804613 , HBA1 NM_000558.5(HBA1):c.262C>T (p.His88Tyr) SNV other 15779 rs28928876 GRCh37: 16:227094-227094
GRCh38: 16:177095-177095
7 LOC106804613 , HBA1 NM_000558.5(HBA1):c.262C>T (p.His88Tyr) SNV other 15779 rs28928876 GRCh37: 16:227094-227094
GRCh38: 16:177095-177095
8 LOC106804613 , HBA1 NM_000558.5(HBA1):c.262C>T (p.His88Tyr) SNV other 15779 rs28928876 GRCh37: 16:227094-227094
GRCh38: 16:177095-177095
9 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.203T>A (p.Val68Glu) SNV other 15254 rs33918343 GRCh37: 11:5247919-5247919
GRCh38: 11:5226689-5226689
10 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.277C>T (p.His93Tyr) SNV other 15255 rs33924775 GRCh37: 11:5247845-5247845
GRCh38: 11:5226615-5226615
11 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.277C>T (p.His93Tyr) SNV other 15255 rs33924775 GRCh37: 11:5247845-5247845
GRCh38: 11:5226615-5226615
12 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.277C>T (p.His93Tyr) SNV other 15255 rs33924775 GRCh37: 11:5247845-5247845
GRCh38: 11:5226615-5226615
13 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.190C>T (p.His64Tyr) SNV other 15256 rs33922873 GRCh37: 11:5247932-5247932
GRCh38: 11:5226702-5226702
14 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.320T>A (p.Leu107Gln) SNV Pathogenic 15378 rs33941844 GRCh37: 11:5246952-5246952
GRCh38: 11:5225722-5225722
15 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.203T>A (p.Val68Glu) SNV Pathogenic 15254 rs33918343 GRCh37: 11:5247919-5247919
GRCh38: 11:5226689-5226689
16 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.277C>T (p.His93Tyr) SNV Pathogenic 15255 rs33924775 GRCh37: 11:5247845-5247845
GRCh38: 11:5226615-5226615
17 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
18 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
19 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic 15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
20 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
21 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic 15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
22 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
23 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
24 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
25 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-79A>G SNV Pathogenic 15469 rs34598529 GRCh37: 11:5248330-5248330
GRCh38: 11:5227100-5227100
26 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-137C>A SNV Pathogenic 36285 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
27 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-138C>A SNV Likely pathogenic 393701 rs33944208 GRCh37: 11:5248389-5248389
GRCh38: 11:5227159-5227159

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 blood microparticle GO:0072562 9.43 HBB HBA2 HBA1
2 endocytic vesicle lumen GO:0071682 9.33 HBB HBA2 HBA1
3 cytosolic small ribosomal subunit GO:0022627 9.32 HBA2 HBA1
4 hemoglobin complex GO:0005833 9.13 HBB HBA2 HBA1
5 haptoglobin-hemoglobin complex GO:0031838 8.8 HBB HBA2 HBA1

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 9.58 HBB HBA2 HBA1
2 cellular oxidant detoxification GO:0098869 9.54 HBB HBA2 HBA1
3 response to hydrogen peroxide GO:0042542 9.5 HBB HBA2 HBA1
4 positive regulation of cell death GO:0010942 9.43 HBB HBA2 HBA1
5 bicarbonate transport GO:0015701 9.33 HBB HBA2 HBA1
6 hydrogen peroxide catabolic process GO:0042744 9.13 HBB HBA2 HBA1
7 oxygen transport GO:0015671 8.8 HBB HBA2 HBA1

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 HBB HBA2 HBA1
2 peroxidase activity GO:0004601 9.5 HBB HBA2 HBA1
3 oxygen binding GO:0019825 9.43 HBB HBA2 HBA1
4 iron ion binding GO:0005506 9.4 HBA2 HBA1
5 oxygen carrier activity GO:0005344 9.33 HBB HBA2 HBA1
6 organic acid binding GO:0043177 9.13 HBB HBA2 HBA1
7 haptoglobin binding GO:0031720 8.8 HBB HBA2 HBA1

Sources for Methemoglobinemia, Beta-Globin Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....