Cerebral creatine deficiency syndrome 1

Preferred Label : Cerebral creatine deficiency syndrome 1;

Symbol : CCDS1;

CISMeF acronym : CCDS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Creatine transporter defect; Mental retardation, X-linked, with seizures, short stature, and midface hypoplasia; Creatine deficiency syndrome, X-linked; Mental retardation, X-linked, with creatine transport deficiency;

Description : Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment (summary by van de Kamp et al., 2011). - Genetic Heterogeneity of Cerebral Creatine Deficiency Syndrome See also CCDS2 (612736), caused by mutation in the GAMT gene (601240) on chromosome 19p13, and CCDS3 (612718), caused by mutation in the AGAT gene (GATM; 602360) on chromosome 15q15.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the creatine transporter gene (SLC6A8, 300036.0001);

Laboratory abnormalities : Impaired creatine uptake in fibroblasts; Increased urinary creatine; Increased plasma creatine; Increased urinary creatine-to-creatinine ratio;

Prefixed ID : #300352;

Détails

Origin ID

300352;

UMLS CUI

C1845862;

Automatic exact mappings (from CISMeF team)
- SLC6A8 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Cerebral Creatine Deficiency Syndrome 1 [NCIt concept]
- Creatine deficiency, X-linked [MeSH concept]
- X linked creatine transporter deficiency [Disease (Nov.)]
- X-linked creatine deficiency (disorder) [SNOMED CT concept]
- X-linked creatine transporter deficiency [ORDO Disease]
- X-linked creatine transporter deficiency [ICD-11 More detail]
- creatine deficiency, X-linked [MeSH Supplementary Concept]
- creatine transporter deficiency [DO Concept]
DO Cross reference
- creatine transporter deficiency [DO Concept]
Genes related to phenotype
- Solute carrier family 6 (neurotransmitter transporter, creatine), member 8 [OMIM gene]
HPO term(s)
- Aganglionic megacolon [HPO term]
- Aggressive behavior [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Broad forehead [HPO term]
- Broad-based gait [HPO term]
- Constipation [HPO term]
- Delayed myelination [HPO term]
- Delayed speech and language development [HPO term]
- Dystonia [HPO term]
- Exotropia [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Hypermetropia [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Ileus [HPO term]
- Impaired social interactions [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Long face [HPO term]
- Long, thin face [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Myopathic facies [HPO term]
- Narrow face [HPO term]
- Neonatal hypotonia [HPO term]
- Pes cavus [HPO term]
- Poor hand-eye coordination [HPO term]
- Prolonged QT interval [HPO term]
- Ptosis [HPO term]
- Reduced brain creatine level by MRS [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Speech and language delay, severe [HPO term]
- Speech apraxia [HPO term]
- Stereotypical motor behaviors [HPO term]
- Tall stature [HPO term]
- Underfolded superior helices [HPO term]
- Vomiting [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked creatine transporter deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral Creatine Deficiency Syndrome 1 [NCIt concept]
- Creatine deficiency, X-linked [MeSH concept]
- Creatine transporter deficiency [MedDRA LLT]
- X linked creatine transporter deficiency [Disease (Nov.)]
- X-linked creatine deficiency (disorder) [SNOMED CT concept]
- X-linked creatine transporter deficiency [ORDO Disease]
- X-linked creatine transporter deficiency [ICD-11 More detail]
- creatine deficiency, X-linked [MeSH Supplementary Concept]
- creatine transporter deficiency [DO Concept]

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