combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
MONDO:0060611Mondo
Findings
No curated finding names combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 1 of 1 reported patient
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- HyperhomocystinemiaHPOHP:0002160
- 1 of 1 reported patient
- Hypersegmentation of neutrophil nucleiHPOHP:0004821
- 1 of 1 reported patient
- Hypoplastic hippocampusHPOHP:0025517
- 1 of 1 reported patient
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 2 of 2 reported patients
- Megaloblastic anemiaHPOHP:0001889
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
- 1 of 1 reported patient
- PancytopeniaHPOHP:0001876
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Severe combined immunodeficiencyHPOHP:0004430
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MTHFD1HGNC:7432
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of