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: cerebral creatine deficiency syndrome
Accession: DOID:0050798
browse the term
Definition: An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. (DO)
Synonyms: primary_id: RDO:9004404
xref: OMIM:PS300352
For additional species annotation, visit the
Alliance of Genome Resources .
G
Abca7
ATP binding cassette subfamily A member 7
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
G
Arhgap45
Rho GTPase activating protein 45
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,541,032...12,741,314
Ensembl chr 7:12,541,061...12,741,296
G
Arid3a
AT-rich interaction domain 3A
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,573,604...12,602,407
Ensembl chr 7:12,574,198...12,601,674
G
Atp5f1d
ATP synthase F1 subunit delta
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
G
Cbarp
CACN subunit beta associated regulatory protein
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,433,422...12,441,048
Ensembl chr 7:12,433,933...12,441,048
G
Cfd
complement factor D
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,634,216...12,635,939
Ensembl chr 7:12,634,216...12,635,943
G
Cirbp
cold inducible RNA binding protein
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,400,066...12,405,054
Ensembl chr 7:12,401,207...12,405,022
G
Cnn2
calponin 2
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,782,459...12,787,977
Ensembl chr 7:12,782,491...12,787,750
G
Efna2
ephrin A2
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,382,636...12,393,266
Ensembl chr 7:12,382,636...12,393,266
G
Elane
elastase, neutrophil expressed
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
G
Fam174c
family with sequence similarity 174 member C
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,398,200...12,399,910
Ensembl chr 7:12,398,200...12,399,910
G
Fgf22
fibroblast growth factor 22
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,829,785...12,831,675
Ensembl chr 7:12,829,785...12,831,675
G
Fstl3
follistatin like 3
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,806,031...12,810,556
Ensembl chr 7:12,804,919...12,810,570
G
Gamt
guanidinoacetate N-methyltransferase
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:2476685 PMID:8651275 PMID:11136556 PMID:11978605 PMID:15108290 PMID:15651030 PMID:16169544 PMID:16855203 PMID:17171576 PMID:17336114 PMID:19027335 PMID:19388150 PMID:19892372 PMID:21140503 PMID:22019491 PMID:23234264 PMID:23583224 PMID:23660394 PMID:24071436 PMID:24268530 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:28438604 PMID:28492532
NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
G
Gpx4
glutathione peroxidase 4
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
G
Grin3b
glutamate ionotropic receptor NMDA type subunit 3B
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,764,993...12,771,310
Ensembl chr 7:12,764,993...12,771,310
G
Hcn2
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,851,730...12,870,087
Ensembl chr 7:12,851,739...12,874,215
G
Kiss1r
KISS1 receptor
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
G
Med16
mediator complex subunit 16
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,619,739...12,632,241
Ensembl chr 7:12,542,713...12,632,298
G
Midn
midnolin
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,414,303...12,426,712
Ensembl chr 7:12,414,733...12,424,367
G
Misp
mitotic spindle positioning
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,691,834...12,707,927
Ensembl chr 7:12,697,743...12,707,922
G
Ndufs7
NADH:ubiquinone oxidoreductase core subunit S7
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392
G
Palm
paralemmin
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,708,024...12,721,055
Ensembl chr 7:12,708,015...12,793,711
G
Plppr3
phospholipid phosphatase related 3
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,652,555...12,663,825
Ensembl chr 7:12,652,415...12,663,819
G
Polr2e
RNA polymerase II, I and III subunit E
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,532,785...12,536,797
Ensembl chr 7:12,532,895...12,536,791
G
Polrmt
RNA polymerase mitochondrial
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,840,907...12,851,153
Ensembl chr 7:12,840,938...12,851,153
G
Prss57
serine protease 57
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,798,310...12,804,668
Ensembl chr 7:12,798,868...12,804,283
G
Prtn3
proteinase 3
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,643,712...12,646,951
Ensembl chr 7:12,643,516...12,646,960
G
Ptbp1
polypyrimidine tract binding protein 1
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,663,965...12,673,723
Ensembl chr 7:12,663,965...12,673,718
G
Pwwp3a
PWWP domain containing 3A, DNA repair factor
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,331,288...12,348,263
Ensembl chr 7:12,331,416...12,346,475
G
R3hdm4
R3H domain containing 4
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,611,476...12,618,586
Ensembl chr 7:12,611,468...12,618,586
G
Rnf126
ring finger protein 126
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,820,796...12,828,325
Ensembl chr 7:12,820,840...12,828,334
G
Sbno2
strawberry notch homolog 2
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,471,805...12,515,700
Ensembl chr 7:12,471,824...12,518,654
G
Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
G
Tmem259
transmembrane protein 259
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,771,239...12,777,901
Ensembl chr 7:12,771,227...12,779,862
G
Wdr18
WD repeat domain 18
ISO
ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome
ClinVar
PMID:28492532
NCBI chr 7:12,561,318...12,569,120
Ensembl chr 7:12,561,324...12,569,143
G
Duox1
dual oxidase 1
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,251,794...114,286,827
Ensembl chr 3:114,253,637...114,286,802
G
Duox2
dual oxidase 2
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
G
Duoxa1
dual oxidase maturation factor 1
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,241,057...114,251,720
Ensembl chr 3:114,241,057...114,251,647
G
Duoxa2
dual oxidase maturation factor 2
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,236,718...114,240,086
Ensembl chr 3:114,236,718...114,240,086
G
Gatm
glycine amidinotransferase
ISO
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency ClinVar Annotator: match by OMIM:612718 ClinVar Annotator: match by null
OMIM ClinVar
PMID:10762163 PMID:11555793 PMID:12468279 PMID:20625172 PMID:20682460 PMID:22386973 PMID:23660394 PMID:23770102 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26467025 PMID:27233232 PMID:28492532
NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
G
Shf
Src homology 2 domain containing F
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,288,021...114,307,334
Ensembl chr 3:114,287,718...114,307,250
G
Slc28a2
solute carrier family 28 member 2
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,355,003...114,647,382
Ensembl chr 3:114,355,798...114,647,382
G
Sord
sorbitol dehydrogenase
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366
G
Terb2
telomere repeat binding bouquet formation protein 2
ISO
ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency
ClinVar
PMID:28492532
NCBI chr 3:114,129,387...114,147,943
Ensembl chr 3:114,129,589...114,147,926
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
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
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
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
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
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
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:11326334 PMID:11898126 PMID:12210795 PMID:12536364 PMID:12544242 PMID:15154114 PMID:16086185 PMID:16738945 PMID:17101918 PMID:17465020 PMID:18047645 PMID:18414213 PMID:19188083 PMID:20717164 PMID:21836662 PMID:21910234 PMID:22281021 PMID:22659343 PMID:23408511 PMID:23660394 PMID:25326635 PMID:25741868 PMID:25803912 PMID:25861866 PMID:26467025 PMID:28492532 PMID:29429461 PMID:31222513 PMID:32860008
NCBI chr X:157,129,987...157,139,321
Ensembl chr X:157,129,987...157,139,291
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
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
G
Gamt
guanidinoacetate N-methyltransferase
ISO
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:612736
OMIM ClinVar CTD
PMID:2476685 PMID:8651275 PMID:9386672 PMID:11136556 PMID:11978605 PMID:12468279 PMID:12557293 PMID:15108290 PMID:15651030 PMID:16169544 PMID:16855203 PMID:17101918 PMID:17171576 PMID:17336114 PMID:19027335 PMID:19892372 PMID:21140503 PMID:22019491 PMID:23234264 PMID:23583224 PMID:23660394 PMID:24071436 PMID:24268530 PMID:24415674 PMID:25741868 PMID:26003046 PMID:26319512 PMID:26467025 PMID:28492532 PMID:32214227
NCBI chr 7:12,314,848...12,317,998
Ensembl chr 7:12,314,848...12,317,998
G
Ndufs7
NADH:ubiquinone oxidoreductase core subunit S7
ISO
ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
ClinVar
PMID:12468279 PMID:25741868
NCBI chr 7:12,318,776...12,326,403
Ensembl chr 7:12,318,757...12,326,392
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all