Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type (HMAG)

Alias:
Methylcobalamin Deficiency, Cblg Type
Methylcobalamin Deficiency Type Cblg
Hmag
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cblg Complementation Type
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism Cblg Complementation Type
Functional Methionine Synthase Deficiency Type Cblg
Homocystinuria-Megaloblastic Anemia Cblg Type
Methionine Synthase Deficiency
Methylcobalamin Deficiency Cbl G Type
Methylcobalamin Deficiency Cblg Type
Arakawa Syndrome 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type, also known as methylcobalamin deficiency, cblg type, is related to homocystinuria without methylmalonic aciduria and homocystinuria-megaloblastic anemia, cble complementation type, and has symptoms including seizures An important gene associated with Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type is MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase). Affiliated tissues include breast, and related phenotypes are nystagmus and blindness
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
<1/1000000
8
31
17

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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