Cerebral Creatine Deficiency Syndrome 1 (CCDS1)

External Ids:

Disease Ontology 12 DOID:0050800 OMIM® 57 300352 OMIM Phenotypic Series 57 PS300352 KEGG 36 H02196 MeSH 44 D020739 D038901 ICD10 via Orphanet 33 E72.8

UMLS via Orphanet 71 C1845862 Orphanet 58 ORPHA52503 MedGen 41 C1845862 SNOMED-CT via HPO 68 103606006 109504005 11934000 128613002 130968006 135810007 14760008 162294008 201093004 204043002 204739008 205091006 205294008 221360009 22325002 224958001 225595004 22810007 228156007 229721007 237836003 238108007 246545002 247578003 248004009 248328003 249497008 262016004 26432009 271611007 271700006 285384003 29164008 298181000 300359004 313307000 33995003 36440009 367495003 38101003 397790002 398151007 398152000 399054005 399252000 406506008 41581000 422400008 432788009 44548000 44913001 5507002 56731001 58593005 61372001 62415009 7461003 84328007 84757009 85102008 88598008 91138005 91175000 more UMLS 70 C1845862

MedlinePlus Genetics : ⁴³ X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention-deficit/hyperactivity disorder (ADHD) or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may experience slow growth and exhibit delayed development of motor skills such as sitting and walking. Affected individuals tend to tire easily.A small number of people with X-linked creatine deficiency have additional signs and symptoms including abnormal heart rhythms, an unusually small head (microcephaly), or distinctive facial features such as a broad forehead and a flat or sunken appearance of the middle of the face (midface hypoplasia).

MalaCards based summary : Cerebral Creatine Deficiency Syndrome 1, also known as creatine transporter deficiency, is related to cerebral creatine deficiency syndrome 3 and cerebral creatine deficiency syndrome 2, and has symptoms including seizures, constipation and vomiting. An important gene associated with Cerebral Creatine Deficiency Syndrome 1 is SLC6A8 (Solute Carrier Family 6 Member 8), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Arginine and proline metabolism. The drug Creatine has been mentioned in the context of this disorder. Affiliated tissues include eye, brain and retina, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : ¹² A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has material basis in mutation in the SLC6A8 gene on chromosome Xq28.

GARD : ²⁰ X-linked creatine deficiency primarily affects development of the brain and nervous system. Symptoms can begin at any age, but usually begin in early childhood. These symptoms can include mild to severe intellectual disability, delayed speech development, behavioral problems, and seizures. The intellectual disability may get worse over time. X-linked creatine deficiency is caused by a SLC6A8 gene that is not working correctly. It is inherited in an X-linked pattern. Diagnosis is based on screening tests, clinical exam, and genetic testing. Treatment is focused on managing the symptoms.

OMIM® : ⁵⁷ Cerebral creatine deficiency syndrome-1 (CCDS1) 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). (300352) (Updated 20-May-2021)

KEGG : ³⁶ Creatine deficiency syndromes are inborn errors of metabolism resulting in a progressive encephalopathy with early onset mental retardation, extrapyramidal features, and drug resistant epilepsy. X-linked creatine deficiency syndrome is caused by mutations in SLC6A8 gene that encodes creatine transporter.

UniProtKB/Swiss-Prot : ⁷² Cerebral creatine deficiency syndrome 1: An X-linked disorder of creatine transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment.

Clinical features from OMIM®:

300352 (Updated 20-May-2021)

Search NIH Clinical Center for Cerebral Creatine Deficiency Syndrome 1

Search GEO for disease gene expression data for Cerebral Creatine Deficiency Syndrome 1.