Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

Preferred Label : Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia;

Symbol : CIMAH;

CISMeF acronym : CIMAH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Methylenetetrahydrofolate dehydrogenase 1 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the methylenetetrahydrofolate dehydrogenase 1 gene (MTHFD1, 172460.0003);

Laboratory abnormalities : Normal serum cobalamin; Decreased methylcobalamin;

Prefixed ID : #617780;

Details

Origin ID

617780;

UMLS CUI

C4540434;

Genes related to phenotype
- Methylenetetrahydrofolate dehydrogenase 1 [OMIM gene]
HPO term(s)
- Anemia of inadequate production [HPO term]
- Asthenia [HPO term]
- Autoimmunity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased circulating antibody level [HPO term]
- Decreased methylcobalamin [HPO term]
- Eczema [HPO term]
- Hearing impairment [HPO term]
- Intellectual disability, mild [HPO term]
- Lymphopenia [HPO term]
- Macrocytic anemia [HPO term]
- Megaloblastic anemia [HPO term]
- Pancytopenia [HPO term]
- Recurrent infections [HPO term]
- Recurrent pneumonia [HPO term]
- Seizure [HPO term]
- Septic arthritis [HPO term]
- Severe combined immunodeficiency [HPO term]
- Thrombocytosis [HPO term]
- Vomiting [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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