MCID: MTH072
MIFTS: 19

Methemoglobin Reductase Deficiency

Aliases & Classifications for Methemoglobin Reductase Deficiency

MalaCards integrated aliases for Methemoglobin Reductase Deficiency:

Name: Methemoglobin Reductase Deficiency 57 72
Nadph-Dependent Methemoglobin Reductase Deficiency 57
Tpnh-Methemoglobin Reductase Deficiency 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
methemoglobin reductase deficiency:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 250700
MedGen 42 C0472786
UMLS 72 C0472786

Summaries for Methemoglobin Reductase Deficiency

MalaCards based summary : Methemoglobin Reductase Deficiency, also known as nadph-dependent methemoglobin reductase deficiency, is related to methemoglobinemia due to deficiency of methemoglobin reductase and methemoglobinemia. An important gene associated with Methemoglobin Reductase Deficiency is CYB5R4 (Cytochrome B5 Reductase 4). The drugs leucovorin and Dapsone have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotype is abnormal erythrocyte morphology.

More information from OMIM: 250700

Related Diseases for Methemoglobin Reductase Deficiency

Diseases related to Methemoglobin Reductase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 methemoglobinemia due to deficiency of methemoglobin reductase 12.5
2 methemoglobinemia 10.6
3 hereditary methemoglobinemia 10.6
4 congenital methemoglobinemia 10.5
5 cyanosis, transient neonatal 10.3
6 hemoglobinopathy 10.1

Graphical network of the top 20 diseases related to Methemoglobin Reductase Deficiency:



Diseases related to Methemoglobin Reductase Deficiency

Symptoms & Phenotypes for Methemoglobin Reductase Deficiency

Human phenotypes related to Methemoglobin Reductase Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 abnormal erythrocyte morphology 32 HP:0001877

Symptoms via clinical synopsis from OMIM:

57
Heme:
no methemoglobinemia

Lab:
nadph-methemoglobin reductase deficiency
abnormal red cell methylene-blue screening test
normal red cell g6pd activity

Clinical features from OMIM:

250700

Drugs & Therapeutics for Methemoglobin Reductase Deficiency

Drugs for Methemoglobin Reductase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 4 58-05-9 143 6006
2
Dapsone Approved, Investigational Phase 4 80-08-0 2955
3
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
4 Folic Acid Antagonists Phase 4
5 Anti-Infective Agents Phase 4
6 Vitamin B9 Phase 4
7 Folate Phase 4
8 Anti-Bacterial Agents Phase 4
9 Vitamin B Complex Phase 4
10 Antiparasitic Agents Phase 4
11 Antimalarials Phase 4
12 Antiprotozoal Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 ACZ ACN 01. A Phase 4, Double-Blind, Multicenter, Randomized, Vehicle-Controlled, Cross-Over Study to Further Evaluate the Risk of Hematological Adverse Events in G6PD-Deficient Subjects With Acne Vulgaris Treated With ACZONE™ (Dapsone) Gel, 5%. Completed NCT00243542 Phase 4 ACZONE Gel, 5%;Vehicle

Search NIH Clinical Center for Methemoglobin Reductase Deficiency

Genetic Tests for Methemoglobin Reductase Deficiency

Anatomical Context for Methemoglobin Reductase Deficiency

MalaCards organs/tissues related to Methemoglobin Reductase Deficiency:

41
Testes

Publications for Methemoglobin Reductase Deficiency

Articles related to Methemoglobin Reductase Deficiency:

(show all 27)
# Title Authors PMID Year
1
TPNH-methemoglobin reductase deficiency: a new red-cell enzyme defect. 38 8
4383300 1967
2
Methemoglobinemia: Living with Dormant Devil. 38
28428705 2017
3
Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity. 38
22627575 2012
4
Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families. 38
12803131 2002
5
Hb Chile [beta28(B10)Leu-->Met]: an unstable hemoglobin associated with chronic methemoglobinemia and sulfonamide or methylene blue-induced hemolytic anemia. 38
10335980 1999
6
Methemoglobin reductase deficiency in a cat. 38
7698939 1994
7
Acquired methemoglobinemia from multiple oxidants. 38
8211336 1993
8
Congenital methemoglobinemia due to methemoglobin reductase deficiency in two unrelated American black families. 38
2220884 1990
9
Methemoglobinemia as a complication of 20% benzocaine spray for endoscopy. 38
2293580 1990
10
Congenital cyanosis due to methemoglobin reductase deficiency: first reported Tunisian case. 38
2587207 1989
11
Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency: report of a case. 38
3241162 1988
12
The laboratory use of butylnitrite for the production of methemoglobin. 38
4036956 1985
13
Dapsone-induced methemoglobinemia and hemolysis in the presence of familial hemoglobinopathy Hasharon and familial methemoglobin reductase deficiency. 38
6765904 1981
14
Methemoglobinemia induced by local anesthetics. 38
6971056 1981
15
Associated red cell enzyme deficiencies and their significance in a case of congenital enzymopenic methemoglobinemia. 38
6779487 1980
16
[On the mechanism of ascorbic acid induced methemoglobin reduction of human erythrocytes (author's transl)]. 38
926709 1977
17
[Hereditary methemoglobinemia caused by NADH methemoglobin reductase deficiency]. 38
1004966 1976
18
Methemoglobin reductase deficiency in a dog. 38
4151105 1974
19
Rapid method for detection of erythrocyte NADH-methemoglobin reductase deficiency. 38
4333282 1972
20
[Congenital methemoglobinemia due to NADH (DPNH) dependent methemoglobin reductase deficiency]. 38
5070403 1972
21
Congenital methemoglobinemia methemoglobin reductase deficiency. 38
5154970 1971
22
DPNH-methemoglobin reductase deficiency and hereditary methemoglobinemia. 38
4333562 1971
23
[Differential diagnosis of cyanosis. Familial methemoglobin-reductase deficiency]. 38
5125841 1971
24
[Congenital methemoglobulinemia of recessive type caused by DPNH-methemoglobin reductase deficiency. Description of a family]. 38
5132353 1971
25
Congenital methemoglobinemia due to DPNH-methemoglobin reductase deficiency: another inherited defect of red blood cell metabolism found in Thailand. 38
5505653 1970
26
[Erythrocyte metabolism in congenital methemoglobin reductase deficiency]. 38
5714778 1968
27
Hereditary methemoglobinemia due to DPNH-methemoglobin reductase deficiency: report of a family. 38
4292867 1967

Variations for Methemoglobin Reductase Deficiency

Expression for Methemoglobin Reductase Deficiency

Search GEO for disease gene expression data for Methemoglobin Reductase Deficiency.

Pathways for Methemoglobin Reductase Deficiency

GO Terms for Methemoglobin Reductase Deficiency

Sources for Methemoglobin Reductase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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