ORPHA:726700
Chitayat syndrome
Synonyms: ERF-related Chitayat syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chitayat syndrome | ERF-related Chitayat syndrome |
| fr | Syndrome de Chitayat | Syndrome de Chitayat associé à ERF |
| de | Chitayat-Syndrom | CHYTS |
| es | Síndrome de Chitayat | Síndrome de Chitayat asociado al gen ERF |
| it | Sindrome di Chitayat | Sindrome di Chitayat correlata a ERF |
| nl | Syndroom van Chitayat | ERF-gerelateerd syndroom van Chitayat |
| pt | Chitayat syndrome | |
| pl | Chitayat syndrome | = en |
| cs | Chitayat syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617180 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERF | Disease-causing germline mutation(s) in | Assessed | HGNC:3444 | ENSG00000105722 | 611888 | 19q13.2 | ETS2 repressor factor | 8418638[PMID]_27738187[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 40840652[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 40840652[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.
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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/726700
- This record as JSON: /data/d/726700.json