ORPHA:85335
Fried syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fried syndrome | |
| fr | Syndrome de Fried | |
| de | Fried-Syndrom | |
| es | Síndrome de Fried | |
| it | Sindrome di Fried | |
| nl | Syndroom van Fried | |
| pt | Síndrome Fried | |
| pl | Zespół Frieda | |
| cs | Friedův syndrom | |
| uk | Синдром Фріда | |
| zh | Fried综合征 | |
| tr | Fried sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 304340 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0019428 | E | validated | |
| UMLS | C4305134 | 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 (2):
- 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AP1S2 | Disease-causing germline mutation(s) in | Assessed | HGNC:560 | ENSG00000182287 | 300629 | Xp22.2 | adaptor related protein complex 1 subunit sigma 2 | 17617514[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5054319[PMID] |
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 5054319[PMID] |
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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002514 | Cerebral calcification | |
| HP:0001263 | Global developmental delay | |
| HP:0000238 | Hydrocephalus | |
| HP:0001252 | Hypotonia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002465 | Poor speech | |
| HP:0001264 | Spastic diplegia | |
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0000280 | Coarse facial features | |
| HP:0001288 | Gait disturbance | |
| HP:0000218 | High palate | |
| HP:0000276 | Long face | |
| HP:0000400 | Macrotia | |
| HP:0002650 | Scoliosis | |
| HP:0000322 | Short philtrum | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0000365 | Hearing impairment | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0002684 | Thickened calvaria | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 9222959[PMID]_18428203[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85335
- This record as JSON: /data/d/85335.json