ORPHA:688642
Turnpenny-Fry syndrome
Synonyms: PCGF2-related disorder · TPFS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Turnpenny-Fry syndrome | PCGF2-related disorder · TPFS |
| fr | Syndrome de Turnpenny-Fry | Syndrome lié à PCGF2 · TPFS |
| de | Turnpenny-Fry-Syndrom | PCGF2-assoziierte Entwicklungsstörung · TPFS |
| es | Síndrome de Turnpenny-Fry | TPFS · Trastorno asociado a PCGF2 |
| it | Sindrome di Turnpenny-Fry | Malattia correlata a PCGF2 · TPFS |
| nl | Syndroom van Turnpenny-Fry | PCGF2-gerelateerde aandoening · TPFS |
| pt | Síndrome Turnpenny-Fry | Doença PCGF2-relacionada · TPFS |
| pl | Zespół Turnpenny-Fry | = en |
| cs | Turnpenny-Fryův syndrom | Turnpennyho-Fryův syndrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618371 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 32707 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PCGF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12929 | ENSG00000277258 | 600346 | 17q12 | polycomb group ring finger 2 | 30343942[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 34750959[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34750959[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.
6
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/688642
- This record as JSON: /data/d/688642.json