MCID: MTH084
MIFTS: 11

Methemoglobinemia, Alpha Type

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Methemoglobinemia, Alpha Type

MalaCards integrated aliases for Methemoglobinemia, Alpha Type:

Name: Methemoglobinemia, Alpha Type 57 29

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
low o2 affinity hemoglobin


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 hemoglobin 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) (Updated 05-Apr-2021)

MalaCards based summary : Methemoglobinemia, Alpha Type 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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
methemoglobinemia

Skin Nails Hair Skin:
congenital, chronic cyanosis

Clinical features from OMIM®:

617973 (Updated 05-Apr-2021)

Drugs & Therapeutics for Methemoglobinemia, Alpha Type

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

Genetic Tests for Methemoglobinemia, Alpha Type

Genetic tests related to Methemoglobinemia, Alpha Type:

# Genetic test Affiliating Genes
1 Methemoglobinemia, Alpha Type 29 HBA1

Anatomical Context for Methemoglobinemia, Alpha Type

Publications for Methemoglobinemia, Alpha Type

Articles related to Methemoglobinemia, Alpha Type:

# Title Authors PMID Year
1
Concise review: methemoglobinemia. 57
8416301 1993
2
Properties of hemoglobin M, Milwaukee-I variant and its unique characteristic. 57
4311041 1969
3
Chemical studies of several varieties of Hb M. 57
13897827 1961

Variations for Methemoglobinemia, Alpha Type

Expression for Methemoglobinemia, Alpha Type

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

Pathways for Methemoglobinemia, Alpha Type

GO Terms for Methemoglobinemia, Alpha Type

Sources for Methemoglobinemia, Alpha Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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