ORPHA:52503
X-linked creatine transporter deficiency
Synonyms: Creatine transporter deficiency · SLC6A8 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable, X-linked recessive
- Age of onset
- Childhood, Infancy
- Status
- active
X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked creatine transporter deficiency | Creatine transporter deficiency · SLC6A8 deficiency |
| fr | Déficit en transporteur de la créatine lié à l'X | Déficit en SLC6A8 · Déficit en transporteur de la créatine |
| de | Kreatin-Transporter-Mangel, X-chromosomaler | Kreatin-Transporter-Defekt · SLC6A8-Defizienz · SLC6A8-Mangel |
| es | Deficiencia del transportador de creatina ligada al cromosoma X | Deficiencia de SLC6A8 · Deficiencia del transportador de creatina |
| it | Deficit del trasportatore della creatina legato all'X | Deficit del trasportatore della creatina · Deficit di SLC6A8 |
| nl | X-gebonden creatinetransporterdeficiëntie | Creatinetransporterdeficiëntie · SLC6A8-deficiëntie |
| pt | Deficiência de transportador da creatina ligada ao X | Deficiência de transportador da creatina |
| pl | Niedobór transportera kreatyny sprzężony z płcią | Niedobór transportera kreatyny · SLC6A8 deficiency |
| cs | X-vázaný deficit transportéru kreatinu | Deficit transportéru kreatinu · Deficit SLC6A8 |
| uk | Х-зчеплений дефіцит транспортера креатину | Дефіцит транспортера креатину · Дефіцит SLC6A8 |
| zh | X-连锁肌酸转运蛋白缺乏 | 肌酸转运载体缺乏 |
| tr | X'e bağlı kreatin taşıyıcı eksikliği | SLC6A8 eksikliği · Kreatin taşıyıcı eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300352 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.4 | NTBT | index | validated |
| MONDO | 10305 | E | validated | |
| MeSH | C535598 | E | validated | |
| UMLS | C1845862 | E | validated | |
| GARD | 1608 | 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 (4):
- ORPHA:79172Creatine deficiency syndrome
rare inborn errors of metabolism; 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:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC6A8 | Disease-causing germline mutation(s) in | Assessed | HGNC:11055 | ENSG00000130821 | 300036 | Xq28 | solute carrier family 6 member 8 | 20301745[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | 23644449[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_23644449[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012113 | Abnormality of creatine metabolism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0002251 | Aganglionic megacolon | |
| HP:0001251 | Ataxia | |
| HP:0002305 | Athetosis | |
| HP:0000729 | Autistic behavior | |
| HP:0004326 | Cachexia | |
| HP:0002072 | Chorea | |
| HP:0002019 | Constipation | |
| HP:0001332 | Dystonia | |
| HP:0000752 | Hyperactivity | |
| HP:0001276 | Hypertonia | |
| HP:0001252 | Hypotonia | |
| HP:0002595 | Ileus | |
| HP:0000272 | Malar flattening | |
| HP:0000194 | Open mouth | |
| HP:0000742 | Self-mutilation | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001382 | Joint hypermobility | |
| HP:0000298 | Mask-like facies | |
| HP:0000252 | Microcephaly | |
| HP:0000508 | Ptosis | |
| HP:0001582 | Redundant skin | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 2030174[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/52503
- This record as JSON: /data/d/52503.json