MCID: MTH083
MIFTS: 21

Methemoglobinemia, Beta Type

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Methemoglobinemia, Beta Type

MalaCards integrated aliases for Methemoglobinemia, Beta Type:

Name: Methemoglobinemia, Beta Type 57 6

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset of cyanosis during infancy as beta hemoglobin synthesis increases


Classifications:



External Ids:

OMIM® 57 617971
MedGen 41 C1840779

Summaries for Methemoglobinemia, Beta Type

OMIM® : 57 Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit (141800), cyanosis is apparent at birth, whereas if the beta chain is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; 142250), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993). (617971) (Updated 05-Apr-2021)

MalaCards based summary : Methemoglobinemia, Beta Type is related to methemoglobinemia and hemoglobin d disease. An important gene associated with Methemoglobinemia, Beta Type is HBB (Hemoglobin Subunit Beta).

Related Diseases for Methemoglobinemia, Beta Type

Diseases in the Methemoglobinemia family:

Methemoglobinemia, Beta Type Methemoglobinemia, Alpha Type
Congenital Methemoglobinemia Acquired Methemoglobinemia

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 methemoglobinemia 9.5 LOC107133510 LOC106099062 HBB
2 hemoglobin d disease 9.5 LOC110006319 LOC107133510 HBB
3 hemoglobin e-beta-thalassemia syndrome 9.5 LOC107133510 LOC106099062 HBB
4 sickle cell disease and related diseases 9.5 LOC107133510 LOC106099062 HBB
5 hemoglobin zurich 9.5 LOC107133510 LOC106099062 HBB
6 thalassemia minor 9.4 LOC107133510 LOC106099062 HBB
7 splenic infarction 9.4 LOC107133510 LOC106099062 HBB
8 hemoglobin c disease 9.4 LOC107133510 LOC106099062 HBB
9 hemoglobin e disease 9.3 LOC107133510 LOC106099062 HBB
10 hemolytic anemia 9.2 LOC107133510 LOC106099062 HBB
11 beta-thalassemia 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
12 beta-thalassemia intermedia 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
13 thalassemia 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
14 methemoglobinemia, beta-globin type 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
15 beta-thalassemia, dominant inclusion body type 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
16 beta-thalassemia major 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
17 fetal hemoglobin quantitative trait locus 1 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
18 sickle cell disease 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
19 heinz body anemias 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
20 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
21 hemoglobinopathy 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
22 deficiency anemia 9.1 LOC107133510 LOC106099062 HBB
23 sickle cell anemia 9.1 LOC110006319 LOC107133510 LOC106099062 HBB
24 erythrocytosis, familial, 6 9.1 LOC110006319 LOC107133510 LOC106099062 HBB
25 alpha-thalassemia 9.1 LOC110006319 LOC107133510 LOC106099062 HBB
26 hemoglobin se disease 9.1 LOC110006319 LOC107133510 LOC106099062 HBB
27 malaria 9.0 LOC110006319 LOC107133510 LOC106099062 HBB

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



Diseases related to Methemoglobinemia, Beta Type

Symptoms & Phenotypes for Methemoglobinemia, Beta Type

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
cyanosis

Hematology:
methemoglobinemia
hemoglobin m

Clinical features from OMIM®:

617971 (Updated 05-Apr-2021)

Drugs & Therapeutics for Methemoglobinemia, Beta Type

Search Clinical Trials , NIH Clinical Center for Methemoglobinemia, Beta Type

Genetic Tests for Methemoglobinemia, Beta Type

Anatomical Context for Methemoglobinemia, Beta Type

Publications for Methemoglobinemia, Beta Type

Articles related to Methemoglobinemia, Beta Type:

(show all 16)
# Title Authors PMID Year
1
Properties of hemoglobin M, Milwaukee-I variant and its unique characteristic. 57 6
4311041 1969
2
Chemical studies of several varieties of Hb M. 57 6
13897827 1961
3
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
4
Hb Tübingen [alpha 2 beta (2)106(G8)Leu-->Gln] in a Belgian Family. 6
8226097 1993
5
Concise review: methemoglobinemia. 57
8416301 1993
6
Hb-M "Hyde Park": a de novo mutation, identified by mass spectrometry and DNA analysis. 6
1398295 1992
7
Haemoglobin M-Hyde Park associated with polyagglutinable red blood cells in a South African family. 6
3377987 1988
8
Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family. 6
6311728 1983
9
DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene. 6
6309649 1983
10
Hb M Milwaukee in a German family. 6
604314 1977
11
Structural and functional characteristics of Hb Tübingen: beta 106 (G 8) Leu leads to Gln. 6
1278400 1976
12
Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations. 6
933112 1976
13
Haemoglobin Hiroshima and the mechanism of the alkaline Bohr effect. 6
5285571 1971
14
Amino acid substitution in hemoglobin Makita. 6
5669922 1968
15
Mild homozygous beta-thalassemia. Further evidence for the heterogeneity of beta-thalassemia genes. 6
5900783 1966
16
Clinical and laboratory features of two variants of methemoglobin M disease. 6
13665153 1959

Variations for Methemoglobinemia, Beta Type

ClinVar genetic disease variations for Methemoglobinemia, Beta Type:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
2 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
3 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic 15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
4 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
5 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic 15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
6 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
7 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
8 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
9 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-79A>G SNV Pathogenic 15469 rs34598529 GRCh37: 11:5248330-5248330
GRCh38: 11:5227100-5227100
10 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-137C>A SNV Pathogenic 36285 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
11 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.320T>A (p.Leu107Gln) SNV Pathogenic 15378 rs33941844 GRCh37: 11:5246952-5246952
GRCh38: 11:5225722-5225722
12 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.203T>A (p.Val68Glu) SNV Pathogenic 15254 rs33918343 GRCh37: 11:5247919-5247919
GRCh38: 11:5226689-5226689
13 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.277C>T (p.His93Tyr) SNV Pathogenic 15255 rs33924775 GRCh37: 11:5247845-5247845
GRCh38: 11:5226615-5226615
14 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 Type

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

Pathways for Methemoglobinemia, Beta Type

GO Terms for Methemoglobinemia, Beta Type

Sources for Methemoglobinemia, Beta 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
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