MCID: MTH064
MIFTS: 29

Methemoglobinemia, Beta-Globin Type malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Methemoglobinemia, Beta-Globin Type

Aliases & Descriptions for Methemoglobinemia, Beta-Globin Type:

Name: Methemoglobinemia, Beta-Globin Type 50 25 29
Hemoglobin M Disease 50 25 56 69
Congenital Methemoglobinemia 25 69
Blue Baby Syndrome 50 25
M Hemoglobinopathy 50 56
Hereditary Methemoglobinemia Due to Hemoglobin Mutation 50
Autosomal Dominant Methemoglobinemia 50

Characteristics:

Orphanet epidemiological data:

56
hemoglobin m disease
Inheritance: Autosomal dominant;

Classifications:



External Ids:

Orphanet 56 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 autosomal recessive congenital methemoglobinemia and congenital methemoglobinemia. An important gene associated with Methemoglobinemia, Beta-Globin Type is HBA1 (Hemoglobin Subunit Alpha 1), 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 skin and lung, and related phenotype is 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 42)
id Related Disease Score Top Affiliating Genes
1 autosomal recessive congenital methemoglobinemia 12.2
2 congenital methemoglobinemia 12.1
3 hereditary methemoglobinemia 11.1
4 methemoglobinemia 10.6
5 chronic laryngitis 10.1 HBA1 HBB
6 oxyphilic adenoma 10.0 HBA1 HBB
7 endometrial adenocarcinoma 10.0 HBA1 HBB
8 cardiomyopathy, dilated, 1w 10.0 HBA2 HBB
9 tmem216-related meckel syndrome 10.0 HBA2 HBB
10 tmem237-related joubert syndrome 10.0 HBA2 HBB
11 hypersensitivity pneumonitis, familial 9.9 HBA1 HBA2
12 ichthyosis, congenital, autosomal recessive 8 9.9 HBA1 HBA2
13 t-cell large granular lymphocyte leukemia 9.9 HBA1 HBB
14 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.9 HBA1 HBA2
15 tmem231-related joubert syndrome 9.9 HBA2 HBB
16 paroxysmal nonkinesigenic dyskinesia 2 9.9 HBA1 HBA2
17 pleuropulmonary blastoma 9.9 HBA1 HBA2
18 alzheimer's disease 11 9.9 HBA1 HBA2
19 brucella canis brucellosis 9.9 HBA2 HBB
20 lmna-related cardiocutaneous progeria syndrome 9.9 HBA1 HBA2
21 neuronal ceroid-lipofuscinoses 9.9 HBA1 HBB
22 anorectal stricture 9.9 HBA1 HBA2
23 tk2-related mitochondrial dna depletion syndrome, myopathic form 9.9 HBA2 HBB
24 meningeal melanocytoma 9.9 HBA2 HBB
25 hemopericardium 9.9 HBA1 HBA2
26 vernal conjunctivitis 9.8 HBA1 HBA2
27 peroneal neuropathy 9.8 HBA1 HBA2
28 body dysmorphic disorder 9.8 HBA1 HBA2
29 michelin tire baby syndrome 9.8 HBA1 HBA2 HBB
30 surfactant metabolism dysfunction, pulmonary, 3 9.8 HBA1 HBA2 HBB
31 gaba-transaminase deficiency 9.7 HBA1 HBA2 HBB
32 larynx sarcoma 9.7 HBA1 HBA2 HBB
33 thalassemia-beta, dominant inclusion-body 9.7 HBA1 HBA2 HBB
34 fetal hemoglobin quantitative trait locus 1 9.7 HBA1 HBA2 HBB
35 heinz body anemia 9.7 HBA1 HBA2 HBB
36 tracheal cancer 9.7 HBA1 HBA2 HBB
37 hepatitis b 9.7 HBA2 HBB
38 immunodeficiency due to defect in mapbp-interacting protein 9.7 HBA1 HBA2 HBB
39 methemoglobinemia, type i 9.6
40 tricuspid atresia 9.6
41 cerebral palsy 9.6
42 cerebritis 9.6

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
id 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 HBA2 HBA1
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 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 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):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylene blue Investigational Phase 1 61-73-4
2 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Safety, Tolerability, and Pharmacokinetic Study of Methylene Blue Following a 1 mg/kg Intravenous Dose in Healthy Adults Completed NCT02478281 Phase 1
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:

id 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:

39
Skin, Lung

Publications for Methemoglobinemia, Beta-Globin Type

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:

id 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:

id 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 bicarbonate transport GO:0015701 9.43 HBA1 HBA2 HBB
7 positive regulation of cell death GO:0010942 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:

id 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 transporter 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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