Information on BMFS3b
Name: Bone marrow failure syndrome 3b | Acronym: BMFS3b
Alt. names: Shwachman-Diamond Syndrome
Gene: DNAJC21 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2016
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is clinically characterized by pancytopenia starting in early childhood and exocrine pancreatic insufficiency. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies. It is biologically characterized by defective neutrophil maturation, chemotaxis and ribosomal biogenesis.
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Bone marrow hypocellularity |
7 (87.5%) | 0 (0.0%) | 1 (12.5%) |
| 2 | Pancytopenia |
6 (75.0%) | 0 (0.0%) | 2 (25.0%) |
| 3 | short stature |
5 (62.5%) | 0 (0.0%) | 3 (37.5%) |
| 4 | Anemia |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Intrauterine growth retardation |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Neutropenia |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Vitamin D deficiency |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 8 | Vitamin E deficiency |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | Global developmental delay |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 10 | Hyperechogenic pancreas |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | Neonatal onset |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 12 | Persistence of hemoglobin F |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 13 | Thrombocytopenia |
3 (75.0%) | 0 (0.0%) | 1 (25.0%) |
| 14 | Exocrine pancreatic insufficiency |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 15 | Metaphyseal dysplasia |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 16 | Microcephaly |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 17 | Retinal dystrophy |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 18 | Acute myeloid leukemia |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 19 | Aplastic anaemia |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 20 | Childhood onset |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 21 | Cupped ear |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 22 | Deeply set eye |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 23 | Downturned corners of mouth |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 24 | Eczema |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 25 | Failure to thrive |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 26 | Feeding difficulties |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 27 | Hyperkeratosis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 28 | Hypomelanotic macule |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 29 | Increased mean corpuscular volume |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 30 | Motor delay |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 31 | Oral ulcer |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 32 | Pancreatic steatosis |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 33 | Recurrent infections |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 34 | Retinal dysplasia |
1 (25.0%) | 0 (0.0%) | 3 (75.0%) |
| 35 | Chromosome breakage |
0 (0.0%) | 0 (0.0%) | 7 (99.9%) |
| 36 | Short telomere length |
0 (0.0%) | 0 (0.0%) | 4 (99.9%) |
Age of onset
distribution
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).