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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:creatine transporter deficiency
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Accession:DOID:0050800 term browser browse the term
Definition: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)
Synonyms:exact_synonym: CCDS1;   Creatine Deficiency, X-Linked;   Creatine Transporter Defect;   Mental retardation, X-linked, with creatine transport deficiency;   SLC6A8 deficiency;   SLC6A8-related creatine transporter deficiency;   X-linked creatine deficiency syndrome;   X-linked creatine transporter deficiency;   X-linked mental retardation with seizures, short stature, and midface hypoplasia;   cerebral creatine deficiency syndrome 1
 primary_id: MESH:C535598
 alt_id: OMIM:300352
 xref: NCI:C125665;   ORDO:52503
For additional species annotation, visit the Alliance of Genome Resources.


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creatine transporter deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:156,963,343...156,993,591
Ensembl chr  X:156,963,870...156,993,591
JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:157,015,297...157,030,147
Ensembl chr  X:157,015,305...157,028,434
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Creatine transporter deficiency
ClinVar Annotator: match by term: SLC6A8-Related Creatine Transporter Deficiency
ClinVar Annotator: match by OMIM:300352
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Creatine deficiency, X-linked
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10893433, PMID:11326334, PMID:11898126, PMID:12210795, PMID:12536364, PMID:15154114, PMID:15234334, PMID:16086185, PMID:16738945, PMID:17101918, PMID:17465020, PMID:18047645, PMID:18414213, PMID:19188083, PMID:20528887, PMID:20717164, PMID:20846889, PMID:21836662, PMID:21910234, PMID:22281021, PMID:22659343, PMID:23408511, PMID:23644449, PMID:23660394, PMID:24137762, PMID:24190795, PMID:25326635, PMID:25741868, PMID:25803912, PMID:25861866, PMID:26467025, PMID:27081545, PMID:28065824, PMID:28492532, PMID:29429461, PMID:31222513 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:157,008,773...157,014,342
Ensembl chr  X:157,008,824...157,013,443
JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Creatine transporter deficiency ClinVar PMID:18047645, PMID:22659343, PMID:28492532 NCBI chr  X:156,995,763...156,999,702
Ensembl chr  X:156,995,779...156,999,650
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      cerebral creatine deficiency syndrome 54
        creatine transporter deficiency 9
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              developmental disorder of mental health 3113
                specific developmental disorder 2287
                  intellectual disability 2107
                    syndromic intellectual disability 681
                      Mental Retardation, X-Linked 659
                        creatine transporter deficiency 9
paths to the root

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