Creatine deficiency syndrome
Synonyms: CCDS · CDS · Cerebral creatine deficiency syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive, Not applicable, X-linked recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Creatine deficiency syndrome | CCDS · CDS · Cerebral creatine deficiency syndrome |
| fr | Syndrome de déficit en créatine | CDS |
| de | Kreatin-Mangel-Syndrom | CCDS · CDS · Kreatin-Mangel-Syndrom, zerebrales |
| es | Síndrome de deficiencia de creatina | CCDS · CDS · Síndrome de deficiencia de creatina cerebral |
| it | Sindrome della biosintesi della creatina | CDS · Sindrome da deficit cerebrale di creatina |
| nl | Creatinedeficiëntiesyndroom | CCDS · CDS · Cerebraal creatinedeficiëntiesyndroom |
| pt | Síndrome de deficiência de creatina | Doença da biossíntese de creatina |
| pl | Zespół biosyntezy kreatyny | CDS · Zespół niedoboru kreatyny mózgowej |
| cs | Syndrom deficitu kreatinu | CDS · Syndrom nedostatku mozkového kreatinu |
| uk | Синдром дефіциту креатину | CCDS · CDS · Синдром церебральної креатинової недостатності |
| zh | 肌酸缺乏综合征 | 脑肌酸缺乏综合征 |
| tr | Kreatin eksikliği sendromu | CDS · CCDS · Serebral kreatin eksikliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0000456 | E | validated | |
| MONDO | 456 | E | validated | |
| UMLS | C5244016 | E | validated | |
| MedDRA | 10084104 | 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:79200Disorder of energy metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225696Energy metabolism disorder with epilepsy
rare genetic diseases; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79172
- This record as JSON: /data/d/79172.json