Methemoglobinemia, Beta-Globin Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Other diseases of blood and blood-forming organs

Methaemoglobinaemia

Congenital methaemoglobinaemia

Orphanet: ⁵⁹

Rare haematological diseases

External Ids:

Orphanet ⁵⁹ ORPHA330041

ICD10 via Orphanet ³⁴ D74.0

UMLS ⁷³ C0272087 C3665425

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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)

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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:

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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

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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

Synonyms:

aniline violet

azul de metileno

Basic Blue 9

C.I. basic blue 9

cloruro de metiltioninio

Lowacryl blue 9

Methylene blue

Methylene blue anhydrous

methylenium ceruleum

methylthionine chloride

methylthioninium chloride

Methylthioninium chloride

methylthioninium chloride Proveblue

tetrametylthionine chloride

Urolene Blue

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

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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

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Anatomical Context for Methemoglobinemia, Beta-Globin Type

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

⁴¹

Lung, Skin

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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 )	Alonso-Ojembarrena A...Lubi?n-L?pez SP	2016
2	Hemoglobin-M disease. ( 4746251 )	Bajaj RT...Sukumaran PK	1973
3	Symposium: Hemoglobinopathies in Japan. 4. Molecular basis of the clinical signs in hemoglobin M disease. ( 5753627 )	Hayashi A	1968
4	Hemoglobin M disease in Japan. ( 5856115 )	Shibata S...Miyaji T	1965
5	A new variant of hemoglobin M disease: hemoglobin M-Chicago. ( 14452533 )	JOSEPHSON AM...HELLER P	1962

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Genes for Methemoglobinemia, Beta-Globin Type

Genes related to Methemoglobinemia, Beta-Globin Type (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	HBB	Hemoglobin Subunit Beta	Protein Coding	375	Causative germline mutation ⁵⁹ Pathogenic ⁶
2	HBA1	Hemoglobin Subunit Alpha 1	Protein Coding	350	Causative germline mutation ⁵⁹
3	HBA2	Hemoglobin Subunit Alpha 2	Protein Coding	350	Causative germline mutation ⁵⁹

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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

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Expression for Methemoglobinemia, Beta-Globin Type

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

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Pathways for Methemoglobinemia, Beta-Globin Type

Pathways related to Methemoglobinemia, Beta-Globin Type according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Vesicle-mediated transport ⁶⁶ Show member pathways Membrane Trafficking ⁶⁶	12.6	HBA1 HBA2 HBB
2	Selenium Micronutrient Network ¹ Show member pathways Folate Metabolism ¹ Metabolism of ingested MeSeO2H into MeSeH ⁶⁶ thioredoxin pathway ¹ Vitamin B12 Metabolism ¹	11.7	HBA1 HBB
3	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁶ Show member pathways Scavenging by Class A Receptors ⁶⁶ Scavenging by Class B Receptors ⁶⁶ Scavenging by Class F Receptors ⁶⁶ Scavenging by Class H Receptors ⁶⁶ Scavenging of heme from plasma ⁶⁶	11.45	HBA1 HBA2 HBB
4	Malaria ³⁷	11.02	HBA1 HBA2 HBB
5	African trypanosomiasis ³⁷	10.68	HBA1 HBA2 HBB
6	Erythrocytes take up carbon dioxide and release oxygen ⁶⁶ Show member pathways Erythrocytes take up oxygen and release carbon dioxide ⁶⁶ O2/CO2 exchange in erythrocytes ⁶⁶	10.34	HBA1 HBA2 HBB

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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

Sources for Methemoglobinemia, Beta-Globin Type

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia