ORPHA:100974
FRAXF syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FRAXF syndrome | |
| fr | Syndrome FRAXF | |
| de | FRAXF-Syndrom | |
| es | Síndrome FRAXF | |
| it | Sindrome FRAXF | |
| nl | FRAXF-syndroom | |
| pt | Síndrome FRAXF | |
| pl | Zespół FRAXF | |
| cs | FRAXF syndrom | |
| uk | Синдром FRAXF | |
| zh | FRAXF综合征 | |
| tr | FRAXF sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q99.2 | NTBT | attributed | validated |
| MONDO | 0015084 | E | validated | |
| UMLS | C4274329 | 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 (1):
- 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 |
|---|---|---|---|---|---|---|---|---|
| TMEM185A | Disease-causing germline mutation(s) in | Assessed | HGNC:17125 | ENSG00000269556 | 300031 | Xq28 | transmembrane protein 185A | 7874164[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
3 annotations · validated 2021-11-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003564 | Folate-dependent fragile site at Xq28 | |
| Occasional (29-5%) | ||
| HP:0012758 | Neurodevelopmental delay | |
| Very rare (<4-1%) | ||
| HP:0000118 | Phenotypic abnormality | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 18078840[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100974
- This record as JSON: /data/d/100974.json