ORPHA:697101
Fontaine progeroid syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fontaine progeroid syndrome | |
| fr | Syndrome progéroïde de Fontaine | |
| de | Fontaine-Progeroid-Syndrom | |
| es | Síndrome progeroide de Fontaine | |
| it | Sindrome progeroide di Fontaine | |
| nl | Progeroïd syndroom, Fontaine-type | |
| pt | Fontaine progeroid syndrome | |
| pl | Fontaine progeroid syndrome | |
| cs | Fontaine progeroid syndrome |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612289 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | not yet validated |
| ICD-11 | LD2B | NTBT | attributed | not yet 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:79389Premature aging
rare genetic diseases; rare skin diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis - ORPHA:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:619249Rare hereditary connective tissue disease
rare genetic diseases - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SLC25A24 | ORPHA:2095Gorlin-Chaudhry-Moss syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:20662 | ENSG00000085491 | 608744 | 1p13.3 | solute carrier family 25 member 24 | 29100093[PMID] |
| SLC25A24 | ORPHA:2963Progeroid syndrome, Petty type | Disease-causing germline mutation(s) in | Assessed | HGNC:20662 | ENSG00000085491 | 608744 | 1p13.3 | solute carrier family 25 member 24 | 29100094[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/697101
- This record as JSON: /data/d/697101.json