ORPHA:85278
Christianson syndrome
Synonyms: X-linked Angelman-like syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by intellectual deficit, ataxia, postnatal microcephaly, and hyperkinesis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Christianson syndrome | X-linked Angelman-like syndrome |
| fr | Syndrome de Christianson | Syndrome Angelman-like lié à l'X |
| de | Christianson-Syndrom | X-chromosomales Angelman-ähnliches Syndrom |
| es | Síndrome de Christianson | Síndrome similar a Angelman ligado al cromosoma X |
| it | Sindrome di Christianson | Deficit cognitivo legato all'X - dismorfismi craniofacciali - epilessia - oftalmoplegia - atrofia cerebellare · Deficit cognitivo legato all'X, tipo sudafricano · Sindrome Angelman-simile legata all'X |
| nl | Syndroom van Christianson | X-gebonden Angelman-achtig syndroom |
| pt | Síndrome Christianson | Síndrome Angelman-like ligado ao X |
| pl | Zespół Christiansona | Niepełnosprawność intelektualna sprzężona z chromosomem X - dysmorfia czaszkowo-twarzowa - padaczka - oftalmoplegia - atrofia móżdżku · Niepełnosprawność intelektualna sprzężona z chromosomem X, typ południowo afrykański · Zespół podobny do zespołu Angelmana sprzężony z chromosomem X |
| cs | Christiansonův syndrom | X-vázaný syndrom podobný Angelmanovu syndromu · X-vázaná mentální retardace, jihoafrický typ · X-vázaný syndrom zahrnující mentální retardaci, kraniofaciální dysmorfismus, epilepsii, oftalmoplegii a atrofii mozečku |
| uk | Синдром Крістіансона | Х-зчеплений синдром Ангельмана |
| zh | Christianson综合征 | X-连锁Angelman样综合征 |
| tr | Christianson sendromu | X'e bağlı Angelman-benzeri sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300243 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | index | validated |
| MONDO | 0010278 | E | validated | |
| MeSH | C567484 | E | validated | |
| UMLS | C2678194 | E | validated | |
| GARD | 10572 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - 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:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases - ORPHA:247765X-linked cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC9A6 | Disease-causing germline mutation(s) in | Assessed | HGNC:11079 | ENSG00000198689 | 300231 | Xq26.3 | solute carrier family 9 member A6 | 18342287[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Validated | 25044251[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.
6
HPO phenotypes
49 annotations · validated 2024-08-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001344 | Absent speech | |
| HP:0004326 | Cachexia | |
| HP:0002376 | Developmental regression | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0000276 | Long face | |
| HP:0000400 | Macrotia | |
| HP:0000275 | Narrow face | |
| HP:0002529 | Neuronal loss in central nervous system | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000486 | Strabismus | |
| HP:0000574 | Thick eyebrow | |
| HP:0002078 | Truncal ataxia | |
| Frequent (79-30%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0001181 | Adducted thumb | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000717 | Autism | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0100024 | Conspicuously happy disposition | |
| HP:0002019 | Constipation | |
| HP:0002194 | Delayed gross motor development | |
| HP:0002307 | Drooling | |
| HP:0002015 | Dysphagia | |
| HP:0002353 | EEG abnormality | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002066 | Gait ataxia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0000748 | Inappropriate laughter | |
| HP:0000252 | Microcephaly | |
| HP:0002300 | Mutism | |
| HP:0000639 | Nystagmus | |
| HP:0000194 | Open mouth | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0000767 | Pectus excavatum | |
| HP:0005484 | Secondary microcephaly | |
| HP:0001250 | Seizure | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0003199 | Decreased muscle mass | |
| HP:0000490 | Deeply set eye | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0001382 | Joint hypermobility | |
| HP:0000939 | Osteoporosis | |
| HP:0002650 | Scoliosis | |
| HP:0002360 | Sleep abnormality | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 10528855[PMID]_29334451[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85278
- This record as JSON: /data/d/85278.json