ORPHA:508542
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Synonyms: MYSM1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | MYSM1 deficiency |
| fr | Syndrome de pancytopénie progressive congénitale-déficit immunitaire en cellules B-dysplasie squelettique | Déficit en MYSM1 |
| de | Kongenitales progressives Knochenmarkversagen-B-Zell-Immundefekt-Skelettdysplasie-Syndrom | MYSM1-Defizienz · MYSM1-Mangel |
| es | Síndrome congénito de insuficiencia medular progresiva-inmunodeficiencia de células B-displasia esquelética | Deficiencia de MYSM1 |
| it | Sindrome insufficienza midollare congenita progressiva-immunodeficienza delle cellule B-displasia scheletrica | Deficit di MYSM1 |
| nl | Congenitaal progressief beenmergfalen - B-cel-immuundeficiëntie - skeletdysplasie-syndroom | MYSM1-deficiëntie |
| pt | Síndrome de falência progressiva da medula óssea-imunodeficiência células B-displasia esquelética | |
| pl | Zespół wrodzonej postępującej niewydolności szpiku kostnego- niedoboru odporności związanej z limfocytami B-dysplazji szkieletowej | Niedobór MYSM1 |
| cs | Syndrom zahrnující vrozené progresivní selhání kostní dřeně, imunodeficienci B buněk a skeletální dysplázii | Deficit MYSM1 |
| uk | Вроджена прогресуюча недостатність кісткового мозку-В-клітинний імунодефіцит-скелетна дисплазія | Дефіцит MYSM1 |
| zh | 先天性进行性骨髓衰竭-B细胞免疫缺陷-骨骼发育不良综合征 | MYSM1缺乏 |
| tr | Doğumsal ilerleyici kemik iliği yetmezliği-B hücre immün yetmezliği-iskelet displazisi sendromu | MYSM1 eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618116 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0033683 | E | validated | |
| UMLS | C5567897 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:169349Immuno-osseous dysplasia
rare genetic diseases; rare immunological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:86836Refractory cytopenia with multilineage dysplasia
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYSM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29401 | ENSG00000162601 | 612176 | 1p32.1 | Myb like, SWIRM and MPN domains 1 | 28115216[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 28115216[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28115216[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
38 annotations · validated 2020-01-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001903 | Anemia | |
| HP:0005528 | Bone marrow hypocellularity | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0006872 | Cerebral hypoplasia | |
| HP:0000280 | Coarse facial features | |
| HP:0001635 | Congestive heart failure | |
| HP:0010976 | Decreased total B cell count | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0031688 | Erythroid dysplasia | |
| HP:0001249 | Intellectual disability | |
| HP:0001882 | Leukopenia | |
| HP:0001888 | Lymphopenia | |
| HP:0031689 | Megakaryocyte dysplasia | |
| HP:0002863 | Myelodysplasia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0001896 | Reticulocytopenia | |
| HP:0004322 | Short stature | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0000765 | Abnormal thorax morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0000916 | Broad clavicles | |
| HP:0000518 | Cataract | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000958 | Dry skin | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000365 | Hearing impairment | |
| HP:0011800 | Midface retrusion | |
| HP:0012817 | Noncompaction cardiomyopathy | |
| HP:0012490 | Panniculitis | |
| HP:0002783 | Recurrent lower respiratory tract infections | |
| HP:0004991 | Rhizomelic arm shortening | |
| HP:0005792 | Short humerus | |
| HP:0010049 | Short metacarpal | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0000243 | Trigonocephaly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30746751[PMID]_28115216[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/508542
- This record as JSON: /data/d/508542.json