X-linked intellectual disability, Siderius type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the <i>PHF8</i> gene, localised to the p11.21 region of the X chromosome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Siderius type | |
| fr | Déficience intellectuelle liée à l'X type Siderius | |
| de | Intelligenzminderung, X-chromosomale, Typ Siderius | |
| es | Discapacidad intelectual ligada al cromosoma X tipo Siderius | |
| it | Disabilità intellettiva legata all'X, tipo Siderius | |
| nl | X-gebonden intellectuele achterstand, Siderius-type | |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Siderius | |
| pl | Niepełnosprawność intelektualna typu Siderius sprzężona z chromosomem X | |
| cs | X-vázaná mentální retardace, Sideriusové typ | |
| uk | Х-зчеплена розумова відсталість, тип Сідеріус | |
| zh | X连锁智力障碍，Siderius型 | |
| tr | X'e bağlı zihinsel yetersizlik, Siderius tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300263 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010286 | E | validated | |
| MeSH | C537333 | E | validated | |
| UMLS | C4305078 | E | validated | |
| GARD | 9704 | E | validated | |
| MedDRA | 10082377 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PHF8 | Disease-causing germline mutation(s) in | Assessed | HGNC:20672 | ENSG00000172943 | 300560 | Xp11.22 | PHD finger protein 8 | 17661819[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 16199551[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16199551[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.
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000455 | Broad nasal tip | |
| HP:0000204 | Cleft upper lip | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001176 | Large hands | |
| HP:0000276 | Long face | |
| HP:0000202 | Orofacial cleft | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0008734 | Decreased testicular size | |
| Occasional (29-5%) | ||
| HP:0002162 | Low posterior hairline | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0002650 | Scoliosis | |
| HP:0000664 | Synophrys | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 10398231[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85287
- This record as JSON: /data/d/85287.json