Aliases & Classifications for Methemoglobin Reductase Deficiency

MalaCards integrated aliases for Methemoglobin Reductase Deficiency:

Name: Methemoglobin Reductase Deficiency 57 73
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
SNOMED-CT via HPO 69 258211005 12222001
UMLS 73 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 Dapsone and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotype is abnormal erythrocyte morphology.

Description 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 12.0
2 methemoglobinemia 10.4
3 hereditary methemoglobinemia 10.4
4 congenital methemoglobinemia 10.3
5 methemoglobinemia, beta-globin type 10.3
6 hemoglobinopathy 9.9

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



Diseases related to Methemoglobin Reductase Deficiency

Symptoms & Phenotypes for Methemoglobin Reductase Deficiency

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

Human phenotypes related to Methemoglobin Reductase Deficiency:

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

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
Dapsone Approved, Investigational Phase 4 80-08-0 2955
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
3
leucovorin Approved, Nutraceutical Phase 4 58-05-9 143 6006
4 Anti-Bacterial Agents Phase 4
5 Anti-Infective Agents Phase 4
6 Antimalarials Phase 4
7 Antiparasitic Agents Phase 4
8 Antiprotozoal Agents Phase 4
9 Folic Acid Antagonists Phase 4
10 Vitamin B Complex Phase 4
11 Folate Nutraceutical Phase 4
12 Vitamin B9 Nutraceutical Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase IV Study to Gather More Information About the Safety of ACZONE Gel, 5% in Treating Subjects With Acne Who Have G6PD Deficiency 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 14)
# Title Authors Year
1
Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity. ( 22627575 )
2012
2
Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families. ( 12803131 )
2002
3
Methemoglobin reductase deficiency in a cat. ( 7698939 )
1994
4
Congenital methemoglobinemia due to methemoglobin reductase deficiency in two unrelated American black families. ( 2220884 )
1990
5
Congenital cyanosis due to methemoglobin reductase deficiency: first reported Tunisian case. ( 2587207 )
1989
6
Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency: report of a case. ( 3241162 )
1988
7
Dapsone-induced methemoglobinemia and hemolysis in the presence of familial hemoglobinopathy Hasharon and familial methemoglobin reductase deficiency. ( 6765904 )
1981
8
Methemoglobin reductase deficiency in a dog. ( 4151105 )
1974
9
Rapid method for detection of erythrocyte NADH-methemoglobin reductase deficiency. ( 4333282 )
1972
10
Congenital methemoglobinemia methemoglobin reductase deficiency. ( 5154970 )
1971
11
DPNH-methemoglobin reductase deficiency and hereditary methemoglobinemia. ( 4333562 )
1971
12
Congenital methemoglobinemia due to DPNH-methemoglobin reductase deficiency: another inherited defect of red blood cell metabolism found in Thailand. ( 5505653 )
1970
13
TPNH-methemoglobin reductase deficiency: a new red-cell enzyme defect. ( 4383300 )
1967
14
Hereditary methemoglobinemia due to DPNH-methemoglobin reductase deficiency: report of a family. ( 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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