ORPHA:401764
Pancytopenia-developmental delay syndrome
Synonyms: Trilineage bone marrow failure-developmental delay syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent
- Status
- active
A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pancytopenia-developmental delay syndrome | Trilineage bone marrow failure-developmental delay syndrome |
| fr | Syndrome de pancytopénie-retard de développement | |
| de | Panzytopenie-Entwicklungsverzögerung-Syndrom | Trilineäres Knochenmarkversagen-Entwicklungsverzögerung-Syndrom |
| es | Síndrome de pancitopenia-retraso del desarrollo | Síndrome de insuficiencia de la médula ósea trilineal-retraso del desarrollo |
| it | Sindrome pancitopenia-ritardo dello sviluppo | Sindrome insufficienza del midollo osseo trilineare-ritardo dello sviluppo |
| nl | Pancytopenie - ontwikkelingsachterstand-syndroom | Trilineair beenmergfalen - ontwikkelingsachterstand-syndroom |
| pt | Síndrome de pancitopenia-perturbação do desenvolvimento | |
| pl | Zespół pancytopenia-opóźnienie rozwoju | Zespół trójliniowa niewydolność szpiku-opóźnienie rozwoju |
| cs | Syndrom zahrnující pancytopenii a opožděný vývoj | Syndrom zahrnující trilineární selhání kostní dřeně a opožděný vývoj |
| uk | Синдром панцитопенії-затримки розвитку | Трилінійна недостатність кісткового мозку - синдром затримки розвитку |
| zh | 全血细胞减少-发育迟缓综合征 | 三系骨髓衰竭-发育迟缓综合征 |
| tr | Pansitopeni-gelişme geriliği sendromu | Trilineage kemik iliği yetmezliği-gelişme geriliği sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615715 | E | validated | |
| ICD-10 | D61.0 | NTBT | attributed | validated |
| ICD-11 | 3A70.0 | NTBT | attributed | validated |
| MONDO | 0014317 | E | validated | |
| UMLS | C4751507 | 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 (2):
- ORPHA:728475Inherited bone marrow failure disorder with immune defect
rare genetic diseases; rare immunological diseases - ORPHA:68383Rare constitutional aplastic anemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERCC6L2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26922 | ENSG00000182150 | 615667 | 9q22.32 | ERCC excision repair 6 like 2 | 24507776[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24507776[PMID]_27185855[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24507776[PMID]_27185855[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401764
- This record as JSON: /data/d/401764.json