X-linked intellectual disability, Van Esch type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, syndromic intellectual disability characterized by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dismorphism include upslanted palpebral fissures and prominent nasal bridge.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Van Esch type | |
| fr | Déficience intellectuelle liée à l'X type Van Esch | |
| de | Intelligenzminderung, X-chromosomale, Typ Van Esch | |
| es | Discapacidad intelectual ligada al cromosoma X tipo Van Esch | |
| it | Disabilità intellettiva legata all'X tipo Van Esch | |
| nl | X-gebonden intellectuele achterstand, Van Esch-type | |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Van Esch | |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Van Escha | |
| cs | X-vázaná mentální retardace, Van Eschové typ | |
| uk | Х-зчеплена розумова відсталість, тип Ван Еша | |
| zh | Van Esch 型X连锁型智力障碍综合征 | |
| tr | X'e bağlı zihinsel yetersizlik, Van Esch tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301030 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0015601 | E | validated | |
| UMLS | C4305072 | 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 (3):
- 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:181441Rare disorder with hypergonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| POLA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9173 | ENSG00000101868 | 312040 | Xp22.11-p21.3 | DNA polymerase alpha 1, catalytic subunit | 31006512[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16053905[PMID] |
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 16053905[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
21 annotations · validated 2016-04-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000028 | Cryptorchidism | |
| HP:0008734 | Decreased testicular size | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001508 | Failure to thrive | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000026 | Male hypogonadism | |
| HP:0000252 | Microcephaly | |
| HP:0008551 | Microtia | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0012646 | Retractile testis | |
| HP:0000278 | Retrognathia | |
| HP:0004322 | Short stature | |
| HP:0005978 | Type II diabetes mellitus | |
| Frequent (79-30%) | ||
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0000837 | Increased circulating gonadotropin level | |
| Occasional (29-5%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0004440 | Coronal craniosynostosis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 16053905[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163976
- This record as JSON: /data/d/163976.json