bone marrow failure and diabetes mellitus syndrome
MONDO:0859288Mondo
Findings
No curated finding names bone marrow failure and diabetes mellitus syndrome 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 · Juvenile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
7 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.
- Type I diabetes mellitusHPOHP:0100651
- 4 of 4 reported patients · Juvenile onset
- PancytopeniaHPOHP:0001876
- 3 of 4 reported patients
- Increased mean corpuscular volumeHPOHP:0005518
- 2 of 4 reported patients
- NevusHPOHP:0003764
- 2 of 4 reported patients
- T-cell acute lymphoblastic leukemiasHPOHP:0006727
- 1 of 4 reported patients
- Anti-glutamic acid decarboxylase antibody positivityHPOHP:0025329
- 0 of 2 reported patients
- Anti-islet antigen-2 antibody positivityHPOHP:0034063
- 0 of 2 reported patients
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.
- DUTHGNC:3078
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of