Cerebral creatine deficiency syndrome 2

Preferred Label : Cerebral creatine deficiency syndrome 2;

Symbol : CCDS2;

CISMeF acronym : CCDS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Creatine deficiency syndrome due to gamt deficiency; Gamt deficiency; Guanidinoacetate methyltransferase deficiency;

Description : Guanidinoacetate methyltransferase deficiency is an autosomal recessive disorder 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 (summary by Schulze, 2003). For a general phenotypic description and a discussion of genetic heterogeneity of CCDS, see CCDS1 (300352).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the guanidinoacetate methyltransferase gene (GAMT, 601240.0001);

Laboratory abnormalities : Extremely low creatine excretion; Guanidinoacetate methyltransferase (GAMT) deficiency; Low CSF creatinine; Deficiency of creatine phosphate in brain; Accumulation of guanidinoacetate in brain; Low CSF creatine;

Prefixed ID : #612736;

Details

Origin ID

612736;

UMLS CUI

C0574080;

Currated CISMeF NLP mapping
- Cerebral Creatine Deficiency Syndrome 2 [NCIt concept]
- 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 [Disease (Nov.)]
- guanidinoacetate methyltransferase deficiency [DO Concept]
- guanidinoacetate methyltransferase deficiency [MeSH Supplementary Concept]
DO Cross reference
- guanidinoacetate methyltransferase deficiency [DO Concept]
Genes related to phenotype
- Guanidinoacetate methyltransferase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Infantile muscular hypotonia [HPO term]
- Intellectual disability [HPO term]
- Myoclonus [HPO term]
- Progressive extrapyramidal movement disorder [HPO term]
- Reduced brain creatine level by MRS [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Guanidinoacetate methyltransferase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral Creatine Deficiency Syndrome 2 [NCIt concept]
- Deficiency of guanidinoacetate methyltransferase (disorder) [SNOMED CT concept]
- Guanidinoacetate methyltransferase deficiency [ORDO Disease]
- Guanidinoacetate methyltransferase deficiency [MeSH concept]
- Guanidinoacetate methyltransferase deficiency [ICD-11 More detail]
- Guanidinoacetate methyltransferase deficiency [LOINC component]
- guanidinoacetate methyltransferase deficiency [MeSH Supplementary Concept]
- guanidinoacetate methyltransferase deficiency [DO Concept]
- guanidinoacetate methyltransferase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients