ORPHA:726036
Red cell aplasia-microcephaly-seizure-developmental delay syndrome
Synonyms: BMFS due to TP53 gain-of-function variant · RCA-microcephaly-seizure-developmental delay syndrome · Germline p53 activation syndrome · BMFS5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Red cell aplasia-microcephaly-seizure-developmental delay syndrome | BMFS due to TP53 gain-of-function variant · RCA-microcephaly-seizure-developmental delay syndrome · Germline p53 activation syndrome · BMFS5 |
| fr | Syndrome d'anémie aplasique-microcéphalie-épilepsie-retard de développement | Syndrome d'anémie aplasique dû à un variant gain de fonction de TP53 |
| de | Erythrozytenaplasie-Mikrozephalie-Krampfanfälle-Entwicklungsverzögerung-Syndrom | Keimbahn-p53-Aktivierungs-Syndrom · Knochenmarkversagen-Syndrom durch TP53-GOF-Mutation · BMFS durch gain-of-function-Mutation im TP53-Gen · BMFS5 |
| es | Síndrome de aplasia de glóbulos rojos-microcefalia-crisis-retraso del desarrollo | SFM por una variante con ganancia de función del gen TP53 · SFM5 · Síndrome de activación germinal del gen p53 · Síndrome de AGR-microcefalia-crisis-retraso del desarrollo |
| it | Sindrome aplasia degli eritrociti-microcefalia-crisi epilettiche-ritardo dello sviluppo | BMFS5 · Sindrome da attivazione della linea germinale di p53 · BMFS da mutazione con Guadagno di funzione di TP53 · Sindrome RCA-microcefalia-crisi epilettiche-ritardo dello sviluppo |
| nl | Erytrocytaire aplasie - microcefalie - insult - ontwikkelingsachterstand-syndroom | BMFS5 · Kiembaan p53-activatiesyndroom · BMFS door TP53-variant met functiewinst · RCA - microcefalie - insult - ontwikkelingsachterstand-syndroom · Rodebloedcelaplasie - microcefalie - insult - ontwikkelingsachterstand-syndroom |
| pt | Red cell aplasia-microcephaly-seizure-developmental delay syndrome | |
| pl | Red cell aplasia-microcephaly-seizure-developmental delay syndrome | = en |
| cs | Red cell aplasia-microcephaly-seizure-developmental delay syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618165 | 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 (3):
- 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 - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TP53 | Disease-causing germline mutation(s) in | Assessed | HGNC:11998 | ENSG00000141510 | 191170 | 17p13.1 | tumor protein p53 | 30146126[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 | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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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/726036
- This record as JSON: /data/d/726036.json