Cerebral Creatine Deficiency Syndrome 2

Preferred Label : Cerebral Creatine Deficiency Syndrome 2;

NCIt synonyms : CCDS2; Guanidinoacetate Methyltransferase Deficiency;

NCIt definition : An autosomal recessive disorder of creatine synthesis caused by mutations(s) in the GAMT gene on chromosome 19p13, encoding guanidinoacetate N-methyltransferase. It is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids.;

Details

Origin ID

C173468;

UMLS CUI

C0574080;

Currated CISMeF NLP mapping
- Cerebral creatine deficiency syndrome 2 [OMIM Phenotype]
- Deficiency of guanidinoacetate methyltransferase (disorder) [SNOMED CT concept]
- Guanidinoacetate methyltransferase deficiency [ICD-11 More detail]
- Guanidinoacetate methyltransferase deficiency [MeSH concept]
- Guanidinoacetate methyltransferase deficiency [ORDO Disease]
- guanidinoacetate methyltransferase deficiency [DO Concept]
- guanidinoacetate methyltransferase deficiency [MeSH Supplementary Concept]
- guanidinoacetate methyltransferase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral creatine deficiency syndrome 2 [OMIM Phenotype]
- Deficiency of guanidinoacetate methyltransferase (disorder) [SNOMED CT concept]
- Guanidinoacetate methyltransferase deficiency [MeSH concept]
- Guanidinoacetate methyltransferase deficiency [ICD-11 More detail]
- Guanidinoacetate methyltransferase deficiency [ORDO Disease]
- Guanidinoacetate methyltransferase deficiency [LOINC component]
- guanidinoacetate methyltransferase deficiency [MeSH Supplementary Concept]
- guanidinoacetate methyltransferase deficiency [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- GAMT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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