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Term:
creatine transporter deficiency (DOID:0050800)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
adrenoleukodystrophy +   
AGAT deficiency  
Aldred Syndrome 
Allan-Herndon-Dudley syndrome  
alpha thalassemia-X-linked intellectual disability syndrome  
Arena Syndrome 
Asparagine Synthetase Deficiency  
Atkin Syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
Charcot-Marie-Tooth disease X-linked recessive 4  
Chromosome Xp11.3 Deletion Syndrome  
CK Syndrome  
Clark-Baraitser Syndrome 
Classical Lissencephalies and Subcortical Band Heterotopias +   
Coffin-Lowry syndrome  
creatine transporter deficiency  
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. (DO)
CST3-related cerebral amyloid angiopathy +   
Danon disease  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
FG syndrome +   
fragile X syndrome +   
galactosemia +   
glycine encephalopathy +   
guanidinoacetate methyltransferase deficiency  
Hartnup disease  
Hereditary Central Nervous System Demyelinating Diseases +   
homocarnosinosis  
homocystinuria +   
hyperlysinemia +   
Leigh disease +   
Lesch-Nyhan syndrome +   
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1  
Lujan Fryns Syndrome  
Lysosomal Storage Diseases, Nervous System +   
maple syrup urine disease +   
MELAS syndrome +   
Menkes disease +   
Mental Retardation X-Linked, South African Type 
MENTAL RETARDATION, X-LINKED 1  
Mental Retardation, X-Linked 100  
Mental Retardation, X-Linked 101  
Mental Retardation, X-Linked 102  
Mental Retardation, X-Linked 103  
Mental Retardation, X-Linked 104  
Mental Retardation, X-Linked 105  
Mental Retardation, X-Linked 107  
Mental Retardation, X-Linked 108  
Mental Retardation, X-Linked 12  
Mental Retardation, X-Linked 14 
Mental Retardation, X-Linked 19  
Mental Retardation, X-Linked 2 
Mental Retardation, X-Linked 20 
Mental Retardation, X-Linked 21  
Mental Retardation, X-Linked 23 
Mental Retardation, X-Linked 3  
Mental Retardation, X-Linked 31  
Mental Retardation, X-Linked 42 
Mental Retardation, X-Linked 45  
Mental Retardation, X-Linked 46  
Mental Retardation, X-Linked 47  
Mental Retardation, X-Linked 49  
Mental Retardation, X-Linked 50  
Mental Retardation, X-Linked 53 
Mental Retardation, X-Linked 58  
Mental Retardation, X-Linked 61  
Mental Retardation, X-Linked 63  
Mental Retardation, X-Linked 72  
Mental Retardation, X-Linked 73 
Mental Retardation, X-Linked 77 
Mental Retardation, X-Linked 81 
Mental Retardation, X-Linked 82  
Mental Retardation, X-Linked 84 
Mental Retardation, X-Linked 88  
Mental Retardation, X-Linked 89  
Mental Retardation, X-Linked 9  
Mental Retardation, X-Linked 91  
Mental Retardation, X-Linked 92  
Mental Retardation, X-Linked 93  
Mental Retardation, X-Linked 95  
Mental Retardation, X-Linked 96  
Mental Retardation, X-Linked 97  
Mental Retardation, X-Linked 98  
Mental Retardation, X-Linked 99 +   
Mental Retardation, X-Linked, 41  
Mental Retardation, X-Linked, 90  
Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related 
Mental Retardation, X-Linked, Syp-Related 
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency  
Mental Retardation, X-Linked, with or without Seizures, Arx-Related  
MERRF Syndrome +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
Microphthalmia, Syndromic 4  
mucopolysaccharidosis II  
Neonatal Severe Encephalopathy due to Mecp2 Mutations  
non-syndromic X-linked intellectual disability +   
oculocerebrorenal syndrome +   
phenylketonuria +   
Plagiocephaly and X-Linked Mental Retardation 
Ppm-X Syndrome 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum disease +   
Rett syndrome +   
Roifman Syndrome  
Silengo Lerone Pelizza Syndrome 
Stocco dos Santos Syndrome  
syndromic X-linked intellectual disability +   
Tranebjaerg Svejgaard syndrome 
Tricarboxylic Acid Cycle, Defect of 
tyrosinemia +   
urea cycle disorder +   
Wilson disease +   
Wittwer Syndrome  
X-linked intellectual disability-psychosis-macroorchidism syndrome  
X-linked mental retardation 106  
X-Linked Mental Retardation Gustavson Type 
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance  
X-Linked Mental Retardation with Panhypopituitarism  
Zellweger syndrome +   

Synonyms
Exact Synonyms: CCDS1 ;   Creatine Deficiency, X-Linked ;   Creatine Transporter Defect ;   Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia ;   Mental retardation, X-linked, with creatine transport deficiency ;   SLC6A8-related creatine transporter deficiency ;   Slc6a8 Deficiency ;   X-linked creatine deficiency syndrome ;   X-linked creatine transporter deficiency ;   cerebral creatine deficiency syndrome 1
Primary IDs: MESH:C535598
Alternate IDs: OMIM:300352 ;   RDO:0000817
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17603797, https://www.omim.org/entry/300352

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.