Ataxia-pancytopenia syndrome
Synonyms: ATXPC syndrome · Myelocerebellar disorder · SAMD9L-related ataxia-pancytopenia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ataxia-pancytopenia syndrome | ATXPC syndrome · Myelocerebellar disorder · SAMD9L-related ataxia-pancytopenia syndrome |
| fr | Syndrome d'ataxie-pancytopénie | Syndrome ATXPC · Syndrome d'ataxie-pancytopénie associé à SAMD9L · Syndrome myélocérébelleux |
| de | Ataxie-Panzytopenie-Syndrom | ATXPC-Syndrom · Myelo-zerebelläres Syndrom · SAMD9L-assoziiertes Ataxie-Panzytopenie-Syndrom |
| es | Síndrome de ataxia-pancitopenia | Síndrome ATXPC · Síndrome de ataxia-pancitopenia asociado a SAMD9L · Síndrome mielocerebeloso |
| it | Sindrome atassia-pancitopenia | Disturbo mielocerebellare · Sindrome atassia-pancitopenia associata a SAMD9L · Sindrome ATXPC |
| nl | Ataxie - pancytopenie-syndroom | ATXPC-syndroom · Myelocerebellaire stoornis · SAMD9L-gerelateerd ataxie - pancytopenie-syndroom |
| pt | Síndrome ataxia-pancitopenia | Síndrome ATXPC · Síndrome de ataxia-pancitopenia SAMD9L-relacionada · Doença mielocerebelosa |
| pl | Ataksja - pancytopenia | Zaburzenie szpikowo-móżdżkowe · Zespół ataksja-pancytopenia |
| cs | Syndrom zahrnující ataxii a pancytopenii | Myelocerebelární porucha |
| uk | Синдром атаксії-панцитопенії | Мієлоцеребеллярний розлад |
| zh | 共济失调-全血细胞减少综合征 | 脊髓小脑紊乱 |
| tr | Ataksi-pansitopeni sendromu | Miyeloserebellar bozukluk |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 159550 | E | validated | |
| ICD-10 | D61.0 | NTBT | attributed | validated |
| MONDO | 0008038 | E | validated | |
| MeSH | C563233 | E | validated | |
| UMLS | C1327919 | E | validated | |
| GARD | 3865 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:728475Inherited bone marrow failure disorder with immune defect
rare genetic diseases; rare immunological diseases - ORPHA:102000Medullar disease
rare neurological diseases - ORPHA:183515Rare genetic medullar disease
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SAMD9L | Disease-causing germline mutation(s) in | Assessed | HGNC:1349 | ENSG00000177409 | 611170 | 7q21.2 | sterile alpha motif domain containing 9 like | 27259050[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 28202457[PMID]_283689[PMID]_6947857[PMID]_27259050[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28202457[PMID]_283689[PMID]_6947857[PMID]_27259050[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0001251 | Ataxia | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0002317 | Unsteady gait | |
| Frequent (79-30%) | ||
| HP:0004311 | Abnormal macrophage morphology | |
| HP:0001874 | Abnormality of neutrophils | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0004820 | Acute myelomonocytic leukemia | |
| HP:0001347 | Hyperreflexia | |
| HP:0001908 | Hypoplastic anemia | |
| HP:0000639 | Nystagmus | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0011869 | Abnormal platelet function | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0000252 | Microcephaly | |
| HP:0001876 | Pancytopenia | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2585
- This record as JSON: /data/d/2585.json