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 ¹⁹ ⁴² ²⁸ ⁵

Hemoglobin M Disease ¹⁹ ⁴² ⁵⁸ ⁷¹ ⁷⁵

Congenital Methemoglobinemia ⁴² ⁷¹

Blue Baby Syndrome ¹⁹ ⁴²

M Hemoglobinopathy ¹⁹ ⁵⁸

Hereditary Methemoglobinemia Due to Hemoglobin Mutation ¹⁹

Autosomal Dominant Methemoglobinemia ¹⁹

Characteristics:

Inheritance:

Hemoglobin M Disease: Autosomal dominant ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³²

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: ⁵⁸

Rare haematological diseases

External Ids:

ICD10 via Orphanet ³² D74.0

Orphanet ⁵⁸ ORPHA330041

UMLS ⁷¹ C0272087 C3665425

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Summaries for Methemoglobinemia, Beta-Globin Type

MedlinePlus Genetics: ⁴² 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 polycythemia and glucosephosphate dehydrogenase deficiency. An important gene associated with Methemoglobinemia, Beta-Globin Type is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Nuclear events mediated by NFE2L2 and Circadian Clock. The drugs Methylene blue and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, whole blood and cerebellum, and related phenotype is Increased shRNA abundance (Z-score > 2).

GARD: ¹⁹ A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.

Orphanet: ⁵⁸ A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.

Wikipedia: ⁷⁵ Hemoglobin M disease is a rare form of hemoglobinopathy, characterized by the presence of hemoglobin M... more...

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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 top 50) (show all 75)

#	Related Disease	Score	Top Affiliating Genes
1	polycythemia	29.2	HBB HBA2 HBA1
2	glucosephosphate dehydrogenase deficiency	29.1	HBB HBA2 HBA1
3	hemoglobinopathy	28.2	LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
4	heinz body anemias	28.1	LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
5	beta-thalassemia	28.0	LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
6	beta-thalassemia major	28.0	LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
7	methemoglobinemia due to deficiency of methemoglobin reductase	11.7
8	congenital methemoglobinemia	11.5
9	methemoglobinemia	10.9
10	methemoglobin reductase deficiency	10.2
11	pyruvate dehydrogenase e3-binding protein deficiency	10.2
12	hypoascorbemia	10.1
13	methemoglobinemia and ambiguous genitalia	10.1
14	microcephaly	10.1
15	acquired methemoglobinemia	10.1
16	microcytic anemia	10.0	HBB HBA2
17	enterocolitis	9.9
18	heart disease	9.9
19	perinatal necrotizing enterocolitis	9.9
20	papillon-lefevre syndrome	9.9
21	polycythemia vera	9.9
22	tricuspid atresia	9.9
23	abdominal obesity-metabolic syndrome 1	9.9
24	pain agnosia	9.9
25	leukodystrophy	9.9
26	patent foramen ovale	9.9
27	mitral valve stenosis	9.9
28	cerebral palsy	9.9
29	spondylosis	9.9
30	bilirubin metabolic disorder	9.9
31	movement disease	9.9
32	dystonia	9.9
33	acute panmyelosis with myelofibrosis	9.9
34	critical congenital heart disease	9.9
35	encephalopathy	9.9
36	hypertonia	9.9
37	sickle cell disease and related diseases	9.8	LOC107133510 LOC106099062 HBB
38	hemoglobin e-beta-thalassemia syndrome	9.8	LOC107133510 LOC106099062 HBB
39	hemoglobin c disease	9.8	LOC107133510 LOC106099062 HBB
40	hemoglobin e disease	9.8	LOC107133510 LOC106099062 HBB
41	type 1 diabetes mellitus 24	9.8	HBA2 HBA1
42	immune hydrops fetalis	9.8	HBA2 HBA1
43	type 1 diabetes mellitus 7	9.7	HBA2 HBA1
44	immature cataract	9.7	HBA2 HBA1
45	hypoglycemic coma	9.7	HBA2 HBA1
46	hemoglobin d disease	9.7	LOC110006319 LOC107133510 HBB
47	erythrocytosis, familial, 8	9.7	HBA2 HBA1
48	alpha thalassemia-intellectual disability syndrome type 1	9.7	HBA2 HBA1
49	thrombotic thrombocytopenic purpura	9.6	HBB HBA1
50	hydrops fetalis, nonimmune	9.6	HBA2 HBA1

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:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-113	9.7	HBA1 HBA2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-140	9.7	HBA1 HBA2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-181	9.7	HBA1 HBA2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-48	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

6099

2

Pharmaceutical Solutions

Phase 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A One-Period, Single-Dose, Safety, Tolerability, and Pharmacokinetic Study of Methylene Blue Injection USP Following a 1 mg/kg Intravenous Dose in Healthy Adult Volunteers	Completed	NCT02478281	Phase 1	Methylene Blue

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 ²⁸	HBB

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Anatomical Context for Methemoglobinemia, Beta-Globin Type

Organs/tissues related to Methemoglobinemia, Beta-Globin Type:

MalaCards : Skin, Whole Blood, Cerebellum, Placenta, Kidney, Heart, Spleen

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Publications for Methemoglobinemia, Beta-Globin Type

Articles related to Methemoglobinemia, Beta-Globin Type:

(show top 50) (show all 232)

#	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. ⁶² ⁵	Hutt PJ...Green MM	9494043	1998
2	Hb Tübingen [alpha 2 beta (2)106(G8)Leu-->Gln] in a Belgian Family. ⁵	Philippe M...Lambert M	8226097	1993
3	Hb-M "Hyde Park": a de novo mutation, identified by mass spectrometry and DNA analysis. ⁵	Rotoli B...De Angioletti M	1398295	1992
4	Haemoglobin M-Hyde Park associated with polyagglutinable red blood cells in a South African family. ⁵	Bird AR...Elliott T	3377987	1988
5	DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian beta-globin gene. ⁵	Horst J...Kohne E	6309649	1983
6	Hb M Milwaukee: direct detection of the beta-globin gene mutation in three generations of an afflicted family. ⁵	Oehme R...Horst J	6311728	1983
7	Hb M Milwaukee in a German family. ⁵	Kohne E...Kleihauer E	604314	1977
8	Structural and functional characteristics of Hb Tübingen: beta 106 (G 8) Leu leads to Gln. ⁵	Kohne E...Braunitzer G	1278400	1976
9	Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations. ⁵	Stamatoyannopoulos G...Chard R	933112	1976
10	Haemoglobin Hiroshima and the mechanism of the alkaline Bohr effect. ⁵	Perutz MF...Hamilton HB	5285571	1971
11	Properties of hemoglobin M, Milwaukee-I variant and its unique characteristic. ⁵	Hayashi A...Watari H	4311041	1969
12	Amino acid substitution in hemoglobin Makita. ⁵	Shibata S...Yamamoto K	5669922	1968
13	Mild homozygous beta-thalassemia. Further evidence for the heterogeneity of beta-thalassemia genes. ⁵	Heller P...Rucknagel DL	5900783	1966
14	Chemical studies of several varieties of Hb M. ⁵	GERALD PS...EFRON ML	13897827	1961
15	Clinical and laboratory features of two variants of methemoglobin M disease. ⁵	PISCIOTTA AV...HINZ JE	13665153	1959
16	Case report of congenital methemoglobinemia: an uncommon cause of neonatal cyanosis. ⁶²	Lyle ANJ...Puia-Dumitrescu M	36114590	2022
17	Intraoperative Management of a Child Undergoing Cardiac Surgery With Congenital Methemoglobinemia Detected in the Operating Room: A Case Report: Erratum. ⁶²		35867846	2022
18	Reactive nitrogen compounds and their influence on human health: an overview. ⁶²	Nieder R...Benbi DK	34022126	2022
19	A Case of Congenital Methemoglobinemia: Rare but Real. ⁶²	Paudel S...Srivatana P	35592205	2022
20	CYB5R3 homozygous pathogenic variant as a rare cause of cyanosis in the newborn. ⁶²	Molina Herranz D...Hernandez Mata CF	35104462	2022
21	Anesthetic experience: congenital methemoglobinemia due to hemoglobin M. ⁶²	Ri H...Jeon Y	34703896	2021
22	Type I congenital methemoglobinemia in a Chinese family. ⁶²	Ji J...Chen M	32556454	2021
23	A rare cause of cyanosis: Congenital methemoglobinemia. ⁶²	Guedri R...Ben Becher S	34267908	2021
24	Congenital Methemoglobinemia and Unstable Hemoglobin Variant in a Child With Cyanosis. ⁶²	Alsabri M...Peichev M	34367744	2021
25	Rhizobium and Mycorrhizal Fungal Species Improved Soybean Yield Under Drought Stress Conditions. ⁶²	Igiehon ON...Babalola OO	33686507	2021
26	When to say no to inhaled nitric oxide in neonates? ⁶²	Chandrasekharan P...Abman SH	33509680	2021
27	Intraoperative Management of a Child Undergoing Cardiac Surgery With Congenital Methemoglobinemia Detected in the Operating Room: A Case Report. ⁶²	Bhaskar P...Sahabudheen AFA	33684078	2021
28	Beyond a routine blood gas, an easily picked but missed diagnosis of chronic Encephalopathy. ⁶²	AlFaris HS...Al-Muhaizea MA	33718579	2021
29	Congenital Methemoglobinemia-Induced Cyanosis in Assault Victim. ⁶²	Alotaibi AT...Alfaraj D	33903840	2021
30	Case Report of Remifentanil Labor Analgesia for a Pregnant Patient With Congenital Methemoglobinemia Type 1. ⁶²	Yin W...Lim G	33449539	2021
31	[Congenital methemoglobinemia type Ⅱ in a child]. ⁶²	Zhang GY...Zhu DN	32605351	2020
32	Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia. ⁶²	Gupta V...Kedar P	31898843	2020
33	A bolt from the blue; A case report of an unusual asthma exacerbation. ⁶²	Moloney C...Murphy DM	31908916	2020
34	Optimised neural network model for river-nitrogen prediction utilizing a new training approach. ⁶²	Kumar P...El-Shafie A	32986717	2020
35	The nitrate content of fresh and cooked vegetables and their health-related risks. ⁶²	Salehzadeh H...Ponnet K	31917821	2020
36	Congenital methemoglobinemia: Rare presentation of cyanosis in newborns. ⁶²	Virsilas E...Liubsys A	31754421	2019
37	Diagnosis of Hemoglobin M Disease in a Toddler Presenting With Hypoxemia and Hemolysis. ⁶²	Picca A...Kanter J	31431070	2019
38	Exon sequencing of the alpha-2-globin gene for the differential diagnosis of central cyanosis in newborns: a case report. ⁶²	Shin C...Lee JH	31269924	2019
39	Hydrothermal encapsulation of lanthanum oxide derived Aegle marmelos admixed chitosan bead system for nitrate and phosphate retention. ⁶²	Kumar IA...Viswanathan N	30794900	2019
40	Recessive congenital methemoglobinemia type II: Hypoplastic basal ganglia in two siblings with a novel mutation of the cytochrome b5 reductase gene. ⁶²	Nicolas-Jilwan M	30614390	2019
41	Congenital Methemoglobinemia Identified by Pulse Oximetry Screening. ⁶²	Ward J...Toldi G	30733239	2019
42	Genetic cause for congenital methemoglobinemia in an Australian Pomeranian dog. ⁶²	Zhou S...Peaston A	30767280	2019
43	'Acute leukemia in congenital methehemoglobinemia - an enigma to explore'. ⁶²	Al-Khafaji JF...Abdalla AO	30788079	2019
44	Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I. ⁶²	Kedar PS...Madkaikar M	29482478	2018
45	[Cyanosis in 14-year-old patient. Methemoglobinemia: case report]. ⁶²	Orlandi M...Pereza FE	29756717	2018
46	Failure of Pulse Oximetry and Cooximetry as Monitors in a Patient With Hemoglobin MIwate: A Case Report. ⁶²	Mathew PJ...Sharma R	29293483	2018
47	The Acute Treatment of Methemoglobinemia in Pregnancy. ⁶²	Grauman Neander N...Rotoli JM	29627348	2018
48	A new mutation of congenital methemoglobinemia exacerbated after methylene blue treatment. ⁶²	Yamaji F...Ogura S	29657736	2018
49	Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature. ⁶²	Soliman DS...Yassin M	29721250	2018
50	Congenital methemoglobinemia type II in a 5-year-old boy. ⁶²	Mannino EA...Schrier Vergano SA	29375859	2018

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Genes for Methemoglobinemia, Beta-Globin Type

Genes related to Methemoglobinemia, Beta-Globin Type (6 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HBB	Hemoglobin Subunit Beta	Protein Coding	875	Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵	604314 933112 1278400 (more) 1398295 3377987 4311041 5285571 5669922 5900783 6309649 6311728 8226097 9494043 13665153 13897827 8416301
2	LOC106099062	HBB Recombination Region	Functional Element	425	Pathogenic ⁵ Likely pathogenic ⁵	604314 933112 1398295 (more) 3377987 4311041 5285571 5669922 5900783 6309649 6311728 9494043 13665153 13897827
3	LOC107133510	Origin Of Replication At HBB	Functional Element	425	Pathogenic ⁵ Likely pathogenic ⁵	604314 933112 1278400 (more) 1398295 3377987 4311041 5285571 5669922 5900783 6309649 6311728 8226097 9494043 13665153 13897827
4	LOC110006319	Beta-Globin Gene 3' Regulatory Region	Functional Element	400	Pathogenic ⁵	1278400 8226097
5	HBA1	Hemoglobin Subunit Alpha 1	Protein Coding	350	Causative germline mutation ⁵⁸	8416301 3026948
6	HBA2	Hemoglobin Subunit Alpha 2	Protein Coding	350	Causative germline mutation ⁵⁸	8416301 25031065

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Variations for Methemoglobinemia, Beta-Globin Type

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

⁵ (show all 20)

#	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_000518.4(HBB):c.-137C>A	SNV	Pathogenic	36285	rs33941377	GRCh37: 11:5248388-5248388 GRCh38: 11:5227158-5227158
11	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	SNV	Pathogenic	15333	rs334	GRCh37: 11:5248232-5248232 GRCh38: 11:5227002-5227002
12	LOC106099062, HBB, LOC107133510	NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	SNV	Pathogenic	15126	rs33930165	GRCh37: 11:5248233-5248233 GRCh38: 11:5227003-5227003
13	LOC110006319, HBB, LOC107133510	NM_000518.4(HBB):c.364G>A (p.Glu122Lys)	SNV	Pathogenic	15292	rs33946267	GRCh37: 11:5246908-5246908 GRCh38: 11:5225678-5225678
14	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.79G>A (p.Glu27Lys)	SNV	Pathogenic	15161	rs33950507	GRCh37: 11:5248173-5248173 GRCh38: 11:5226943-5226943
15	LOC106099062, HBB, LOC107133510	NM_000518.5(HBB):c.17_18del (p.Pro6fs)	DEL	Pathogenic	15422	rs34889882	GRCh37: 11:5248234-5248235 GRCh38: 11:5227004-5227005
16	LOC106099062, HBB, LOC107133510	NM_000518.4(HBB):c.203T>A (p.Val68Glu)	SNV	Pathogenic	15254	rs33918343	GRCh37: 11:5247919-5247919 GRCh38: 11:5226689-5226689
17	LOC106099062, HBB, LOC107133510	NM_000518.4(HBB):c.277C>T (p.His93Tyr)	SNV	Pathogenic	15255	rs33924775	GRCh37: 11:5247845-5247845 GRCh38: 11:5226615-5226615
18	LOC110006319, HBB, LOC107133510	NM_000518.4(HBB):c.320T>A (p.Leu107Gln)	SNV	Pathogenic	15378	rs33941844	GRCh37: 11:5246952-5246952 GRCh38: 11:5225722-5225722
19	HBB, LOC106099062, LOC107133510	NM_000518.5(HBB):c.-138C>A	SNV	Likely Pathogenic	393701	rs33944208	GRCh37: 11:5248389-5248389 GRCh38: 11:5227159-5227159
20	LOC106099062, HBB, LOC107133510	NM_000518.4(HBB):c.208G>A (p.Gly70Ser)	SNV	Likely Pathogenic	15138	rs33947415	GRCh37: 11:5247914-5247914 GRCh38: 11:5226684-5226684

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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	Nuclear events mediated by NFE2L2 ⁶⁶ Show member pathways Cellular response to chemical stress ⁶⁶ Cytoprotection by HMOX1 ⁶⁶ KEAP1-NFE2L2 pathway ⁶⁶ NFE2L2 regulates pentose phosphate pathway genes ⁶⁶ NFE2L2 regulating anti-oxidant/detoxification enzymes ⁶⁶ NFE2L2 regulating TCA cycle genes ⁶⁶ Regulation of BACH1 activity ⁶⁶ Regulation of HMOX1 expression and activity ⁶⁶ Regulation of NFE2L2 gene expression ⁶⁶	12.13	HBB HBA2 HBA1
2	Circadian Clock ⁶⁶ Show member pathways BMAL1:CLOCK,NPAS2 activates circadian gene expression ⁶⁶ Circadian Clock in Mammals ⁶⁴ Heme signaling ⁶⁶ NR1D1 (REV-ERBA) represses gene expression ⁶⁶ RORA activates gene expression ⁶⁶	11.58	HBB HBA2 HBA1
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	11.09	HBB HBA2 HBA1
4	O2/CO2 exchange in erythrocytes ⁶⁶ Show member pathways Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) ⁶⁶ Erythrocytes take up carbon dioxide and release oxygen ⁶⁶ Erythrocytes take up oxygen and release carbon dioxide ⁶⁶	10.36	HBB HBA2 HBA1

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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	blood microparticle	GO:0072562	9.73	HBB HBA2 HBA1
2	endocytic vesicle lumen	GO:0071682	9.63	HBB HBA2 HBA1
3	cytosolic small ribosomal subunit	GO:0022627	9.62	HBA2 HBA1
4	hemoglobin complex	GO:0005833	9.43	HBB HBA2 HBA1
5	haptoglobin-hemoglobin complex	GO:0031838	9.1	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	cellular oxidant detoxification	GO:0098869	9.88	HBB HBA2 HBA1
2	positive regulation of cell death	GO:0010942	9.85	HBB HBA2 HBA1
3	response to hydrogen peroxide	GO:0042542	9.8	HBB HBA2 HBA1
4	hydrogen peroxide catabolic process	GO:0042744	9.73	HBA1 HBA2 HBB
5	oxygen transport	GO:0015671	9.63	HBB HBA2 HBA1
6	carbon dioxide transport	GO:0015670	9.43	HBB HBA2 HBA1
7	nitric oxide transport	GO:0030185	9.1	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	9.85	HBB HBA2 HBA1
2	peroxidase activity	GO:0004601	9.8	HBB HBA2 HBA1
3	oxygen binding	GO:0019825	9.73	HBB HBA2 HBA1
4	oxygen carrier activity	GO:0005344	9.63	HBB HBA2 HBA1
5	organic acid binding	GO:0043177	9.43	HBB HBA2 HBA1
6	haptoglobin binding	GO:0031720	9.1	HBB HBA2 HBA1

Sources

Sources for Methemoglobinemia, Beta-Globin Type

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: MTH064 MIFTS: 40	Methemoglobinemia, Beta-Globin Type Categories: Blood diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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