bone marrow failure syndrome 6
MONDO:0030015Mondo
Findings
No curated finding names bone marrow failure syndrome 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Bone marrow hypocellularityHPOHP:0005528
- 3 of 3 reported patients
- Chronic fatigueHPOHP:0012432
- 2 of 4 reported patients
- Increased mean corpuscular volumeHPOHP:0005518
- 2 of 4 reported patients
- MyalgiaHPOHP:0003326
- 2 of 4 reported patients
- Persistence of hemoglobin FHPOHP:0011904
- 2 of 4 reported patients
- HypothyroidismHPOHP:0000821
- 1 of 4 reported patients
- OsteopeniaHPOHP:0000938
- 1 of 4 reported patients
- Recurrent sinusitisHPOHP:0011108
- 1 of 4 reported patients
- Squamous cell carcinoma of the tongueHPOHP:0030413
- 1 of 4 reported patients
- AnemiaHPOHP:0001903
- Decreased total lymphocyte countHPOHP:0001888
- Decreased total neutrophil countHPOHP:0001875
Show the remaining 1
- Short telomere lengthHPOHP:0031413
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.
- MDM4HGNC:6974
- Moderate · ClinGen · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: bone marrow failure syndrome 6
- Also called
- BMFS6