MCID: MTH084
MIFTS: 9

Methemoglobinemia, Alpha Type

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Methemoglobinemia, Alpha Type

MalaCards integrated aliases for Methemoglobinemia, Alpha Type:

Name: Methemoglobinemia, Alpha Type 57
Methemoglobinemias, Alpha- 13

Classifications:



External Ids:

OMIM 57 617973

Summaries for Methemoglobinemia, Alpha 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, cyanosis is apparent at birth, whereas if the beta chain (141900) 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). (617973)

MalaCards based summary : Methemoglobinemia, Alpha Type, is also known as methemoglobinemias, alpha-. An important gene associated with Methemoglobinemia, Alpha Type is HBA1 (Hemoglobin Subunit Alpha 1).

Related Diseases for Methemoglobinemia, Alpha Type

Symptoms & Phenotypes for Methemoglobinemia, Alpha Type

Clinical features from OMIM:

617973

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GO Terms for Methemoglobinemia, Alpha Type

Sources for Methemoglobinemia, Alpha 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
33 ICD10
34 ICD10 via Orphanet
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42 MedGen
44 MeSH
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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