bone marrow failure syndrome 5
MONDO:0032573Mondo
Findings
No curated finding names bone marrow failure syndrome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
18 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.
- AnemiaHPOHP:0001903
- 2 of 2 reported patients
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 2 of 2 reported patients
- Erythroid hypoplasiaHPOHP:0012133
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Growth delayHPOHP:0001510
- 2 of 2 reported patients
- HypogonadismHPOHP:0000135
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Pure red cell aplasiaHPOHP:0012410
- 2 of 2 reported patients
- Reticular hyperpigmentationHPOHP:0007588
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Short telomere lengthHPOHP:0031413
- 2 of 2 reported patients
Show the remaining 6
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 2 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 1 of 2 reported patients
- Testicular atrophyHPOHP:0000029
- 1 of 2 reported patients
- Nail dystrophyHPOHP:0008404
- 0 of 2 reported patients
- Oral leukoplakiaHPOHP:0002745
- 0 of 2 reported patients
- Pulmonary fibrosisHPOHP:0002206
- 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.
- TP53HGNC:11998
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of