MCID: MTH083
MIFTS: 8

Methemoglobinemia, Beta Type

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Methemoglobinemia, Beta Type

MalaCards integrated aliases for Methemoglobinemia, Beta Type:

Name: Methemoglobinemia, Beta Type 57 6

Classifications:



External Ids:

OMIM 57 617971

Summaries for Methemoglobinemia, Beta Type

OMIM : 57 Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemolobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit (141800), cyanosis is apparent at birth, whereas if the beta chain is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; 142250), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993). (617971)

MalaCards based summary : Methemoglobinemia, Beta Type An important gene associated with Methemoglobinemia, Beta Type is HBB (Hemoglobin Subunit Beta).

Related Diseases for Methemoglobinemia, Beta Type

Symptoms & Phenotypes for Methemoglobinemia, Beta Type

Clinical features from OMIM:

617971

Drugs & Therapeutics for Methemoglobinemia, Beta Type

Search Clinical Trials , NIH Clinical Center for Methemoglobinemia, Beta Type

Genetic Tests for Methemoglobinemia, Beta Type

Anatomical Context for Methemoglobinemia, Beta Type

Publications for Methemoglobinemia, Beta Type

Variations for Methemoglobinemia, Beta Type

ClinVar genetic disease variations for Methemoglobinemia, Beta 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

Expression for Methemoglobinemia, Beta Type

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

Pathways for Methemoglobinemia, Beta Type

GO Terms for Methemoglobinemia, Beta Type

Sources for Methemoglobinemia, Beta Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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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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