COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (CIMAH)

Question 1

What is  COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (CIMAH)?

Accepted Answer

rare
autosomal recessive
mutation in the MTHFD1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Immundefekt bei Methylentetrahydrofolat-Dehydrogenase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617780

Question 4

Which enzymes are involved?

Accepted Answer

C-1-tetrahydrofolate synthase, cytoplasmic

Disease	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (CIMAH)
Synonym	METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1 DEFICIENCY
OMIM	617780 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	C-1-tetrahydrofolate synthase, cytoplasmic
Gene locus	14q23.3
ICD
Summary	rare autosomal recessive mutation in the MTHFD1 gene
Laboratory findings	Homocysteine inc (serum) Methylmalonic acid inc (plasma)
Symptoms	anemia cirrhosis or fibrosis of liver hearing defect, deafness immunodeficiency infections (respiratory tract/system) megaloblastic anemia mental retardation onset, childhood onset, infancy retinopathy seizures skin rash, eczematous or seborrhoic thrombopenia, thrombocytopenia vomiting