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CCDS1
MCID: CRB151
MIFTS: 51
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Cerebral Creatine Deficiency Syndrome 1 (CCDS1)
Categories:
Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Cerebral Creatine Deficiency Syndrome 1:
Characteristics:Orphanet epidemiological data:60
x-linked creatine transporter deficiency
Inheritance: Not applicable,X-linked recessive; Age of onset: Childhood,Infancy; Age of death: adult; OMIM:58
Miscellaneous:
onset in first months of life carrier females may show neuropsychologic impairment
Inheritance:
x-linked recessive HPO:33
cerebral creatine deficiency syndrome 1:
Onset and clinical course infantile onset Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
35
Orphanet: 60
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
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NIH Rare Diseases
:
54
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.
MalaCards based summary : Cerebral Creatine Deficiency Syndrome 1, also known as x-linked creatine deficiency syndrome, 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 Arginine and proline metabolism and NRF2 pathway. The drugs Fluorouracil and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin, and related phenotypes are intellectual disability and seizures 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. Genetics Home Reference : 26 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 : 58 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). (300352) UniProtKB/Swiss-Prot : 76 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 : 77 Creatine Transporter Deficiency(CTD) is an inborn error of creatine metabolism in which creatine is not... more... |
Human phenotypes related to Cerebral Creatine Deficiency Syndrome 1:60 33 (show top 50) (show all 56)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:300352UMLS symptoms related to Cerebral Creatine Deficiency Syndrome 1:seizures, constipation, vomiting, muscle spasticity MGI Mouse Phenotypes related to Cerebral Creatine Deficiency Syndrome 1:47
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Drugs for Cerebral Creatine Deficiency Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
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MalaCards organs/tissues related to Cerebral Creatine Deficiency Syndrome 1:42
Brain,
Heart,
Skin,
Eye
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Articles related to Cerebral Creatine Deficiency Syndrome 1:
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Genes related to Cerebral Creatine Deficiency Syndrome 1 (1 elite genes):(show all 11) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Cerebral Creatine Deficiency Syndrome 1:76 (show all 12)
ClinVar genetic disease variations for Cerebral Creatine Deficiency Syndrome 1:6 (show top 50) (show all 175)
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Search
GEO
for disease gene expression data for Cerebral Creatine Deficiency Syndrome 1.
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Cellular components related to Cerebral Creatine Deficiency Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Cerebral Creatine Deficiency Syndrome 1 according to GeneCards Suite gene sharing:
Molecular functions related to Cerebral Creatine Deficiency Syndrome 1 according to GeneCards Suite gene sharing:
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