Cerebral Creatine Deficiency Syndrome 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Mental diseases
Aliases & Descriptions for Cerebral Creatine Deficiency Syndrome 1:
Orphanet epidemiological data:51
x-linked creatine transporter deficiency:
Inheritance: Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: adult
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Mental diseases
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 X-linked creatine deficiency is a rare condition that primarily affects the brain. signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. less commonly, affected people may have distinctive facial features, heart abnormalities, and gastrointestinal disorders. x-linked creatine deficiency is caused by changes (mutations) in the slc6a8 gene and is inherited in an x-linked manner. treatment with high doses of creatine monohydrate, l-arginine, and l-glycine has been used to treat some of the symptoms associated with x-linked creatine deficiency with variable success. last updated: 11/5/2015
MalaCards based summary: Cerebral Creatine Deficiency Syndrome 1, also known as x-linked creatine deficiency syndrome, is related to slc6a8-related creatine transporter deficiency and creatine transporter deficiency, and has symptoms including cognitive impairment, neurological speech impairment and abnormality of metabolism/homeostasis. An important gene associated with Cerebral Creatine Deficiency Syndrome 1 is SLC6A8 (Solute Carrier Family 6 Member 8). Affiliated tissues include brain, heart and skin.
Genetics Home Reference:23 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 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.
OMIM:49 Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental... (300352) more...
UniProtKB/Swiss-Prot:67 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.
Wikipedia:68 Creatine transporter defect (CTD) is an X-linked disorder of creatine metabolism caused by defective... more...
Diseases related to Cerebral Creatine Deficiency Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Cerebral Creatine Deficiency Syndrome 1:
Symptoms by clinical synopsis from OMIM:300352
Clinical features from OMIM:300352
Symptoms:51 (show all 24)
HPO human phenotypes related to Cerebral Creatine Deficiency Syndrome 1:(show all 60)
UMLS symptoms related to Cerebral Creatine Deficiency Syndrome 1:myopathic facies, vomiting, seizures, muscle spasticity, constipation
Drugs for Cerebral Creatine Deficiency Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 11)
Interventional clinical trials:
Search NIH Clinical Center for Cerebral Creatine Deficiency Syndrome 1
MalaCards organs/tissues related to Cerebral Creatine Deficiency Syndrome 1:33
Brain, Heart, Skin, Bone, Eye
UniProtKB/Swiss-Prot genetic disease variations for Cerebral Creatine Deficiency Syndrome 1:67 (show all 12)
Clinvar genetic disease variations for Cerebral Creatine Deficiency Syndrome 1:5 (show all 13)
Search GEO for disease gene expression data for Cerebral Creatine Deficiency Syndrome 1.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet