Cerebral creatine deficiency syndrome 3

Preferred Label : Cerebral creatine deficiency syndrome 3;

Symbol : CCDS3;

CISMeF acronym : CCDS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gatm deficiency; Agat deficiency; Arginine:glycine amidinotransferase deficiency; Creatine deficiency syndrome due to agat deficiency;

Description : Cerebral creatine deficiency syndrome-3 is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain (Schulze, 2003). Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. Oral creatine supplementation can offer symptom improvement (summary by Edvardson et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of cerebral creatine deficiency syndrome, see CCDS1 (300352).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the L-arginine:glycine amidinotransferase gene (GATM, 602360.0001);

Laboratory abnormalities : Organic aciduria; Decreased plasma and urinary guanidinoacetate (GAA);

Prefixed ID : #612718;

Details

Origin ID

612718;

UMLS CUI

C2675179;

Automatic exact mappings (from CISMeF team)
- AGAT deficiency [MedDRA LLT]
- GATM wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- AGAT deficiency [DO Concept]
- Arginine glycine amidinotransferase deficiency [ICD-11 More detail]
- Arginine-Glycine Amidinotransferase Deficiency [MeSH concept]
- Arginine-Glycine Amidinotransferase Deficiency [MeSH Supplementary Concept]
- Cerebral Creatine Deficiency Syndrome 3 [NCIt concept]
- Cerebral creatine deficiency syndrome 3 (disorder) [SNOMED CT concept]
- L-Arginine:glycine amidinotransferase deficiency [ORDO Disease]
- creatine deficiency syndrome due to AGAT deficiency [Disease (Nov.)]
DO Cross reference
- AGAT deficiency [DO Concept]
Genes related to phenotype
- L-arginine:glycine amidinotransferase [OMIM gene]
HPO term(s)
- Autism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Gowers sign [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Organic aciduria [HPO term]
- Reduced brain creatine level by MRS [HPO term]
ORDO concept(s)
- L-Arginine:glycine amidinotransferase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AGAT deficiency [DO Concept]
- AGAT deficiency [MedDRA LLT]
- Arginine glycine amidinotransferase deficiency [ICD-11 More detail]
- Arginine-Glycine Amidinotransferase Deficiency [MeSH Supplementary Concept]
- Arginine-Glycine Amidinotransferase Deficiency [MeSH concept]
- Cerebral Creatine Deficiency Syndrome 3 [NCIt concept]
- Cerebral creatine deficiency syndrome 3 (disorder) [SNOMED CT concept]
- L-Arginine:glycine amidinotransferase deficiency [ORDO Disease]
- L-arginine-glycine amidinotransferase deficiency [MedDRA LLT]
- creatine deficiency syndrome due to AGAT deficiency [Disease (Nov.)]

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