ORPHA:137831
X-linked intellectual disability-cerebellar hypoplasia syndrome
Synonyms: OPHN1 syndrome · Oligophrenin-1 syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-cerebellar hypoplasia syndrome | OPHN1 syndrome · Oligophrenin-1 syndrome |
| fr | Syndrome de déficience intellectuelle liée à l'X-hypoplasie cérébelleuse | Syndrome OPHN1 · Syndrome oligonéphrine-1 |
| de | X-chromosomale Intelligenzminderung-zerebelläre Hypoplasie-Syndrom | OPHN1-Syndrom · Oligophrenin-1-Syndrom |
| es | Síndrome de discapacidad intelectual-hipoplasia cerebelosa ligado al cromosoma X | Síndrome OPHN1 · Síndrome de oligofrenina 1 |
| it | Sindrome deficit cognitivo legato all'X-ipoplasia cerebellare | Sindrome OPHN1 · Sindrome da oligofrenina-1 |
| nl | X-gebonden intellectuele achterstand - cerebellaire hypoplasie-syndroom | OPHN1-syndroom · Oligofrenine-1-syndroom |
| pt | Síndrome de perturbação do desenvolvimento intelectual ligada ao X-hipoplasia cerebelosa | Síndrome OPHN1 · Síndrome oligofrenina-1 |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem - hipoplazja móżdżku | Zespół oligofreniny-1 · Zespół OPHN1 |
| cs | Syndrom zahrnující X-vázanou mentální retardaci a cerebelární hypoplázii | OPHN1 syndrom · Oligophrenin-1 syndrom |
| uk | Синдром Х-зчепленої розумової відсталості-гіпоплазії мозочка | Синдром олігофреніну-1 · Синдром OPHN1 |
| zh | X连锁遗传智力障碍-小脑发育不全综合征 | Oligophrenin-1综合征 |
| tr | X'e bağlı zihinsel yetersizlik-serebellar hipoplazi sendromu | OPHN1 sendromu · Oligophrenin-1 sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300486 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010337 | E | validated | |
| UMLS | C4304937 | 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 (5):
- ORPHA:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
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 |
|---|---|---|---|---|---|---|---|---|
| OPHN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8148 | ENSG00000079482 | 300127 | Xq12 | oligophrenin 1 | 20528889[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 families | Worldwide | Family(ies) | Validated | 20528889[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20528889[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
33 annotations · validated 2020-09-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001251 | Ataxia | |
| HP:0000729 | Autistic behavior | |
| HP:0000490 | Deeply set eye | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001252 | Hypotonia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002951 | Partial absence of cerebellar vermis | |
| HP:0002465 | Poor speech | |
| HP:0000817 | Reduced eye contact | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0000486 | Strabismus | |
| HP:0400000 | Tall chin | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0002340 | Caudate atrophy | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0006913 | Frontal cortical atrophy | |
| HP:0002080 | Intention tremor | |
| HP:0000303 | Mandibular prognathia | |
| HP:0002172 | Postural instability | |
| HP:0000448 | Prominent nose | |
| HP:0006951 | Retrocerebellar cyst | |
| HP:0007112 | Temporal cortical atrophy | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 23622180[PMID]_20528889[PMID]_20301317[PMID]_23622180[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137831
- This record as JSON: /data/d/137831.json