CCDS1
MCID: CRB151
MIFTS: 46

Cerebral Creatine Deficiency Syndrome 1 (CCDS1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Cerebral Creatine Deficiency Syndrome 1

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Aliases & Descriptions for Cerebral Creatine Deficiency Syndrome 1:

Name: Cerebral Creatine Deficiency Syndrome 1 52 11 70
X-Linked Creatine Deficiency Syndrome 48 25 70 27
Creatine Transporter Deficiency 11 25 54 13
Slc6a8 Deficiency 11 25 54
X-Linked Creatine Transporter Deficiency 48 54
Creatine Deficiency, X-Linked 48 68
X-Linked Creatine Deficiency 48 25
Creatine Transporter Defect 25 70
 
Mental Retardation , X-Linked with Seizures, Short Stature and Midface Hypoplasia 48
X-Linked Mental Retardation with Seizures, Short Stature, and Midface Hypoplasia 70
Mental Retardation , X-Linked, with Creatine Transport Deficiency 48
X-Linked Mental Retardation with Creatine Transport Deficiency 70
Slc6a8-Related Creatine Transporter Deficiency 25
Creatine Deficiency Syndrome, X-Linked 12
Ccds1 70

Characteristics:

Orphanet epidemiological data:

54
creatine transporter deficiency:
Inheritance: Not applicable,X-linked recessive; Age of onset: Childhood,Infancy; Age of death: adult

HPO:

64
cerebral creatine deficiency syndrome 1:
Inheritance: x-linked recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 300352
Disease Ontology11 DOID:0050800
Orphanet54 ORPHA52503
ICD10 via Orphanet31 E72.8
MedGen37 C1845862

Summaries for Cerebral Creatine Deficiency Syndrome 1

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NIH Rare Diseases:48 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 cerebral creatine deficiency syndrome 3, and has symptoms including constipation, constipation and muscle spasticity. An important gene associated with Cerebral Creatine Deficiency Syndrome 1 is SLC6A8 (Solute Carrier Family 6 Member 8), and among its related pathways are Urea cycle and metabolism of amino groups and Arginine and proline metabolism. Affiliated tissues include brain, heart and skin, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and adipose tissue.

Genetics Home Reference:25 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:52 Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental... (300352) more...

UniProtKB/Swiss-Prot:70 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.

Related Diseases for Cerebral Creatine Deficiency Syndrome 1

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Graphical network of diseases related to Cerebral Creatine Deficiency Syndrome 1:



Diseases related to cerebral creatine deficiency syndrome 1

Symptoms & Phenotypes for Cerebral Creatine Deficiency Syndrome 1

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Symptoms by clinical synopsis from OMIM:

300352

Clinical features from OMIM:

300352

Human phenotypes related to Cerebral Creatine Deficiency Syndrome 1:

 54 64 (show all 53)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 open mouth64 54 Frequent (79-30%) HP:0000194
2 microcephaly64 54 Occasional (29-5%) HP:0000252
3 malar flattening64 54 Frequent (79-30%) HP:0000272
4 mask-like facies64 54 Occasional (29-5%) HP:0000298
5 ptosis64 54 Occasional (29-5%) HP:0000508
6 autistic behavior64 54 Frequent (79-30%) HP:0000729
7 self-mutilation64 54 Frequent (79-30%) HP:0000742
8 delayed speech and language development64 54 Very frequent (99-80%) HP:0000750
9 intellectual disability64 54 Very frequent (99-80%) HP:0001249
10 seizures64 54 Very frequent (99-80%) HP:0001250
11 ataxia64 54 Frequent (79-30%) HP:0001251
12 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
13 global developmental delay64 54 Very frequent (99-80%) HP:0001263
14 hypertonia64 54 Frequent (79-30%) HP:0001276
15 dystonia64 54 Frequent (79-30%) HP:0001332
16 constipation64 54 Frequent (79-30%) HP:0002019
17 chorea64 54 Frequent (79-30%) HP:0002072
18 hyperactivity64 54 Frequent (79-30%) HP:0000752
19 redundant skin64 54 Occasional (29-5%) HP:0001582
20 aganglionic megacolon64 54 Frequent (79-30%) HP:0002251
21 athetosis64 54 Frequent (79-30%) HP:0002305
22 ileus64 54 Frequent (79-30%) HP:0002595
23 short stature64 54 Frequent (79-30%) HP:0004322
24 cachexia64 54 Frequent (79-30%) HP:0004326
25 joint hyperflexibility64 54 Occasional (29-5%) HP:0005692
26 abnormality of creatine metabolism64 54 Very frequent (99-80%) HP:0012113
27 tall stature64 HP:0000098
28 narrow face64 HP:0000275
29 long face64 HP:0000276
30 mandibular prognathia64 HP:0000303
31 broad forehead64 HP:0000337
32 hypermetropia64 HP:0000540
33 exotropia64 HP:0000577
34 aggressive behavior64 HP:0000718
35 stereotypy64 HP:0000733
36 impaired social interactions64 HP:0000735
37 spasticity64 HP:0001257
38 motor delay64 HP:0001270
39 gait disturbance64 HP:0001288
40 neonatal hypotonia64 HP:0001319
41 joint hypermobility64 HP:0001382
42 failure to thrive64 HP:0001508
43 pes cavus64 HP:0001761
44 abnormality of metabolism/homeostasis64 HP:0001939
45 vomiting64 HP:0002013
46 myopathic facies64 HP:0002058
47 hypoplasia of the corpus callosum64 HP:0002079
48 attention deficit hyperactivity disorder64 HP:0007018
49 poor hand-eye coordination64 HP:0007057
50 underfolded superior helices64 HP:0008583
51 feeding difficulties in infancy64 HP:0008872
52 midface retrusion64 HP:0011800
53 delayed myelination64 HP:0012448

UMLS symptoms related to Cerebral Creatine Deficiency Syndrome 1:


constipation, muscle spasticity, seizures, vomiting

GenomeRNAi Phenotypes related to Cerebral Creatine Deficiency Syndrome 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.6GAMT, SLC6A8

MGI Mouse Phenotypes related to Cerebral Creatine Deficiency Syndrome 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1FABP3, GAMT, GATM, SLC6A8
2MP:00053868.6FABP3, GAMT, GATM, MAOA, SLC6A8

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome 1

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Drugs for Cerebral Creatine Deficiency Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CisplatinapprovedPhase 2277015663-27-184093, 441203, 2767
Synonyms:
(SP-4-1)-diamminedichloridoplatinum
(SP-4-1)-diamminedichloroplatinum
(SP-4-2)-diamminedichloridoplatinum
(SP-4-2)-diamminedichloroplatinum
Abiplatin
Biocisplatinum
Briplatin
CACP
CDDP
CHEBI:35852
CID441203
CPD0-1392
CPDC
CPDD
Carboquone
Cis Pt II
Cis-DDP
Cis-Diaminedichloroplatinum
Cis-Diamminedichloroplatinum
Cismaplat
Cisplatine
Cisplatino
Cisplatinum
Cisplatyl
Citoplationo
DB00515
DDP
DDPT
Diamminedichloroplatinum
 
EU-0100918
Lederplatin
Neoplatin
Peyrone's chloride
Peyrone's salt
Plastin
Platamine
Platiblastin
Platidiam
Platinex
Platinol
Platinol-AQ
Platinoxan
Platinum Ammine Chloride
Platinum Ammonium Chloride
Platinum Diamine Dichloride
Randa
Trans-DDP
Trans-Diaminedichloroplatinum
Trans-Diamminedichloroplatinum
Trans-Dichlorodiammine Platinum
Trans-Platinumdiammine Dichloride
cis-DDP
cis-Diamminedichloroplatinum
cis-Dichlorodiammineplatinum(II)
cis-[PtCl2(NH3)2]
cis-diamminedichloridoplatinum(II)
cis-diamminedichloroplatinum(II)
nchembio773-comp1
trans-diamminedichloridoplatinum(II)
2
FluorouracilapprovedPhase 2185651-21-83385
Synonyms:
1-fluoro-1h-pyrimidine-2,4-dione
1004-03-1
1upf
2,4-Dihydroxy-5-fluoropyrimidine
2,4-Dioxo-5-fluoropryimidine
2,4-Dioxo-5-fluoropyrimidine
47576_FLUKA
4921-97-5
5 FU Lederle
5 FU medac
5 Fluorouracil
5 Fluorouracil biosyn
5 HU Hexal
5-FU
5-FU (TN)
5-FU Lederle
5-FU medac
5-Faracil
5-Fluor-2,4(1H,3H)-pyrimidindion
5-Fluor-2,4(1H,3H)-pyrimidindion [Czech]
5-Fluor-2,4-dihydroxypyrimidin
5-Fluor-2,4-dihydroxypyrimidin [Czech]
5-Fluor-2,4-pyrimidindiol
5-Fluor-2,4-pyrimidindiol [Czech]
5-Fluoracil
5-Fluoracil [German]
5-Fluoracyl
5-Fluoro-2,4(1H,3H)-pyrimidinedione
5-Fluoro-2,4-pyrimidinedione
5-Fluoropyrimidin-2,4-diol
5-Fluoropyrimidine-2,4-dione
5-Fluorouracil
5-Fluorouracil-biosyn
5-Fluoruracil
5-Fluoruracil [German]
5-Fluracil
5-Ftouracyl
5-HU Hexal
5-fluoro uracil
5-fluoro-1H-pyrimidine-2,4-dione
5-fluoropyrimidine-2,4(1H,3H)-dione
5-fluorouracil
51-21-8
5FU
79108-01-3
AC-11201
AC1L1FTE
AC1Q4N2X
AI3-25297
AKOS000119162
AKOS003237897
AccuSite
Actino-Hermal
Adrucil
Adrucil (TN)
Allergan Brand of Fluorouracil
Arumel
BB_NC-0576
BSPBio_002048
C07649
C4H3FN2O2
CCRIS 2582
CHEBI:46345
CHEMBL185
CID3385
CPD0-1327
CPD000038082
CSP Brand of Fluorouracil
Carac
Carac (TN)
Carzonal
Cinco FU
Cytosafe
D005472
D00584
DB00544
Dakota Brand of Fluorouracil
Dakota, Fluorouracile
Dermatech Brand of Fluorouracil
Dermik Brand of Fluorouracil
DivK1c_000054
EINECS 200-085-6
EU-0100536
Effluderm
Effluderm (free base)
Efudex
Efudix
Efurix
F 6627
F0151
F6627_SIGMA
F8423_SIGMA
FT-0082524
FU
Ferrer Brand of Fluorouracil
Fiverocil
Fluoro Uracil
Fluoro Uracile ICN
Fluoro-Uracile ICN
Fluoro-uracile
Fluoro-uracilo
Fluoroblastin
Fluoroplex
Fluoroplex (TN)
Fluorouracil
Fluorouracil (JP15/USP/INN)
Fluorouracil GRY
Fluorouracil Mononitrate
Fluorouracil Monopotassium Salt
Fluorouracil Monosodium Salt
Fluorouracil Potassium Salt
Fluorouracil Teva Brand
Fluorouracil [USAN:INN:BAN:JAN]
 
Fluorouracil-GRY
Fluorouracile
Fluorouracile Dakota
Fluorouracile [DCIT]
Fluorouracilo
Fluorouracilo Ferrer Far
Fluorouracilo [INN-Spanish]
Fluorouracilum
Fluorouracilum [INN-Latin]
Fluoruracil
Fluouracil
Flurablastin
Fluracedyl
Fluracil
Fluracilum
Fluri
Fluril
Fluro Uracil
Fluroblastin
Flurodex
Flurouracil
Flurox
Ftoruracil
Gry Brand of Fluorouracil
HMS1920O18
HMS2090I04
HMS2091F19
HMS500C16
HSDB 3228
Haemato Brand of Fluorouracil
Haemato fu
Haemato-fu
Hexal Brand of Fluorouracil
I07-0022
ICN Brand of Fluorouracil
IDI1_000054
IN1335
KBio1_000054
KBio2_001321
KBio2_003889
KBio2_006457
KBio3_001268
KBioGR_001253
KBioSS_001321
Kecimeton
LS-153
Lopac-F-6627
Lopac0_000536
MLS000069498
MLS002415705
MolPort-000-156-102
MolPort-003-990-447
MolPort-004-758-143
MolPort-004-758-144
MolPort-005-861-486
NCGC00015442-01
NCGC00015442-03
NCGC00015442-10
NCGC00091349-01
NCGC00091349-02
NCGC00091349-03
NCGC00091349-04
NCGC00091349-05
NCGC00091349-07
NCGC00091349-08
NCI60_001652
NINDS_000054
NSC 19893
NSC-19893
NSC19893
Neocorp Brand of Fluorouracil
Neofluor
Onkofluor
Onkoworks Brand of Fluorouracil
Phthoruracil
Phtoruracil
Queroplex
Ribofluor
Riemser Brand of Fluorouracil
Ro 2-9757
Ro-2-9757
Roche Brand of Fluorouracil
S1209_Selleck
SAM002264615
SMR000038082
SPBio_000291
SPECTRUM1500305
STK297802
Spectrum2_000076
Spectrum3_000434
Spectrum4_000557
Spectrum5_000718
Spectrum_000841
T5233394
TL8006093
Teva Brand of Fluorouracil
Timazin
U 8953
U-8953
UNII-U3P01618RT
UPCMLD-DP130
UPCMLD-DP130:001
URF
Ulup
WLN: T6MVMVJ EF
ZINC00897110
biosyn Brand of Fluorouracil
fluorouracil
inhibits thymilidate synthetase
medac Brand of Fluorouracil
nchembio.90-comp3
nchembio809-comp6
ribosepharm Brand of Fluorouracil
tetratogen
3
Docetaxelapproved, investigational, Approved May 1996Phase 21967114977-28-5148124, 9877265
Synonyms:
(2aR,4S,4aS,6R,9S,11S,12S,12aR,12bS)-12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca[3,4]benz[1,2-b]oxet-9-yl (aR,bS)-b-[[(1,1-dimethylethoxy)carbonyl]amino]-a-hydroxybenzenepropanoate
(2alpha,5beta,7beta,10beta,13alpha)-4-(acetyloxy)-13-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7,10-trihydroxy-9-oxo-5,20-epoxytax-11-en-2-yl benzoate
01885_FLUKA
114977-28-5
4-(Acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
4-(acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
AC-383
AC1L3WHJ
ANX-514
BIND-014
C11231
CHEBI:4672
CHEMBL92
CID148124
D07866
DB01248
Docetaxel
Docetaxel (INN)
Docetaxel anhydrous
Docetaxel, Trihydrate
EmDOC
 
HMS2089K08
InChI=1/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,5
MolPort-003-847-005
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-Boc-10-deacetyl taxol
NSC-628503
PSMA-targeted docetaxel nanoparticle
RP-56976
SDP-014
TXL
Taxotere
Taxotere (TN)
Taxotere(R)
XRP-6976L
docetaxel
docetaxel 114977-28-5
nchembio.188-comp8
nchembio.2007.34-comp7
nchembio.573-comp11
nchembio853-comp8
4Antimitotic AgentsPhase 25657
5
Telmisartanapproved, investigationalPhase 1268144701-48-465999
Synonyms:
144701-48-4
2-[4-[[4-methyl-6-(1-methylbenzimidazol-2-yl)-2-propylbenzimidazol-1-yl]methyl]phenyl]benzoic acid
4'-((1,4'-Dimethyl-2'-propyl(2,6'-bi-1H-benzimidazol)-1'-yl)methyl)-(1,1'-biphenyl)-2-carboxylic acid
4'-((1,4'-dimethyl-2'-propyl(2,6'-bi-1H-benzimidazol)-1'-yl)methyl)-(1,1'-biphenyl)-2-carboxylic acid
4'-((4-Methyl-6-(1-methyl-2-benzimidazolyl)-2-propyl-1-benzimidazolyl)methyl)-2-biphenylcarboxylic acid
4'-((4-mehtyl-6-(1-methyl-2-benzimidazolyl)-2-propyl-1-benzimmidazolyl)methyl)-2-biphenylcarboxylic acid
4'-[(1,4'-Dimethyl-2'propyl[2,6'-bi-1H-benzimidazol]-1'-yl)methyl]-[1,1'-biphenyl]-2-carboxylic acid
4'-[(1,4'-dimethyl-2'propyl[2,6'-bi-1H-benzimidazol]-1'-yl)methyl]-[1,1'-biphenyl]-2-carboxylic acid
4'-[(1,7'-Dimethyl-2'-propyl-1H,3'h-2,5'-bibenzimidazol-3'-yl)methyl]biphenyl-2-carboxylic acid
4'-[(1,7'-dimethyl-2'-propyl-1H,3'H-2,5'-bibenzimidazol-3'-yl)methyl][1,1'-biphenyl]-2-carboxylic acid
4'-[(1,7'-dimethyl-2'-propyl-1H,3'H-2,5'-bibenzimidazol-3'-yl)methyl]biphenyl-2-carboxylic acid
AC-2013
AC1L24EB
AC1Q5U7O
Abbott brand of telmisartan
BAY-68-9291
BAY68-9291
BIBR 277
BIBR 277SE
BIBR-277
BIBR-277-SE
BIBR-277SE
BIDD:GT0365
BRD-K73999723-001-02-2
BSPBio_002738
Bay 68-9291
Bio-0103
Boehringer Ingelheim brand of telmisartan
C07710
C084178
C33H30N4O2
CHEBI:9434
CHEMBL1017
CID65999
CPD000466326
D00627
DB00966
Glaxo Wellcome brand of telmisartan
GlaxoSmithKline brand of telmisartan
 
HMS1922P07
HMS2051P16
HMS2090P17
HMS2093M22
HSDB 7590
I06-0281
KBio3_001958
KBioGR_001842
Kinzal
Kinzalmono
L001035
LS-44263
MLS000759432
MLS001076687
Micardis
Micardis (TN)
Micardis HCT
Micardis, Targit, Temax, BIBR277, Telmisartan
MolPort-003-666-621
NCGC00095150-01
NCGC00095150-02
NCGC00095150-03
Pritor
S1738_Selleck
SAM001246602
SMR000466326
SPBio_002131
SPECTRUM1505261
STK624049
Spectrum2_001976
Spectrum3_001089
Spectrum4_001261
Spectrum5_001053
TL8000991
Telmisartan
Telmisartan (JAN/USAN/INN)
Telmisartan [USAN:INN]
UNII-U5SYW473RQ
YM-086
telmisartan
6Antihypertensive AgentsPhase 14207
7AngiotensinogenPhase 11177
8Angiotensin II Type 1 Receptor BlockersPhase 11091
9Angiotensin Receptor AntagonistsPhase 11191
10
Angiotensin IIPhase 1117868521-88-0, 11128-99-765143, 172198
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
11
Creatineapproved, nutraceutical13057-00-1586
Synonyms:
((amino(Imino)methyl)(methyl)amino)acetic acid
((amino(imino)methyl)(methyl)amino)acetate
((amino(imino)methyl)(methyl)amino)acetic acid
(N-methylcarbamimidamido)acetic acid
(alpha-Methylguanido)acetate
(alpha-Methylguanido)acetic acid
(╬▒-methylguanido)acetic acid
Cosmocair C 100
Creatin
Creatine
Creatine hydrate
Kreatin
 
Krebiozon
Methylglycocyamine
Methylguanidoacetate
Methylguanidoacetic acid
N-(Aminoiminomethyl)-N-Methyl-Glycine
N-(aminoiminomethyl)-N-methylglycine
N-Amidinosarcosine
N-Carbamimidoyl-N-methylglycine
N-Methyl-N-guanylglycine
N-[(e)-AMINO(imino)methyl]-N-methylglycine
Phosphagen
[[Amino(imino)methyl](methyl)amino]acetate
[[Amino(imino)methyl](methyl)amino]acetic acid
alpha-Methylguanidino acetic acid

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cyclin D1 Based TPF Induction Chemotherapy for Oral Squamous Cell Carcinoma Patients at Clinical N2 StageNot yet recruitingNCT02290145Phase 2
2Analysis of Telmisartan Administered With Antiretroviral Therapy (ART) in Patients With Acute HIV InfectionRecruitingNCT02170246Phase 1
3Assessment of the HIV CNS Reservoir, Neurological and Neuro-cognitive Effects, and Source of Rebound HIV in CNSCompletedNCT02470351
4Observational Study of Males With Creatine Transporter DeficiencyRecruitingNCT02931682
5Biomarker for Creatine Deficiency SyndromesRecruitingNCT02934854

Search NIH Clinical Center for Cerebral Creatine Deficiency Syndrome 1

Genetic Tests for Cerebral Creatine Deficiency Syndrome 1

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Genetic tests related to Cerebral Creatine Deficiency Syndrome 1:

id Genetic test Affiliating Genes
1 Creatine Deficiency, X-Linked27

Anatomical Context for Cerebral Creatine Deficiency Syndrome 1

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MalaCards organs/tissues related to Cerebral Creatine Deficiency Syndrome 1:

36
Brain, Heart, Skin, Eye

Publications for Cerebral Creatine Deficiency Syndrome 1

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Variations for Cerebral Creatine Deficiency Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Cerebral Creatine Deficiency Syndrome 1:

70 (show all 12)
id Symbol AA change Variation ID SNP ID
1SLC6A8p.Gly87ArgVAR_020525rs122453115
2SLC6A8p.Gly381ArgVAR_020526rs122453114
3SLC6A8p.Pro390LeuVAR_020527
4SLC6A8p.Pro554LeuVAR_020529rs397515559
5SLC6A8p.Gly132ValVAR_063707rs122453117
6SLC6A8p.Cys337TrpVAR_063708rs122453116
7SLC6A8p.Cys491TrpVAR_063709rs122453118
8SLC6A8p.Tyr80HisVAR_071791
9SLC6A8p.Gly383CysVAR_071792
10SLC6A8p.Ala448AspVAR_071793
11SLC6A8p.Val539IleVAR_071794rs782354054
12SLC6A8p.Arg391TrpVAR_075566

Clinvar genetic disease variations for Cerebral Creatine Deficiency Syndrome 1:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC6A8NM_ 005629.3(SLC6A8): c.1540C> T (p.Arg514Ter)SNVPathogenicrs122453113GRCh37Chr X, 152960032: 152960032
2SLC6A8NM_ 005629.3(SLC6A8): c.1141G> C (p.Gly381Arg)SNVPathogenicrs122453114GRCh37Chr X, 152959041: 152959041
3SLC6A8NM_ 005629.3(SLC6A8): c.1222_ 1224delTTC (p.Phe408del)deletionPathogenicrs80338740GRCh37Chr X, 152959440: 152959442
4SLC6A8SLC6A8, 1-BP INS, 950AinsertionPathogenic
5SLC6A8NM_ 005629.3(SLC6A8): c.259G> A (p.Gly87Arg)SNVPathogenicrs122453115GRCh37Chr X, 152954288: 152954288
6SLC6A8SLC6A8, IVS1AS, A-G, -2SNVPathogenic
7SLC6A8NM_ 005629.3(SLC6A8): c.1011C> G (p.Cys337Trp)SNVPathogenicrs122453116GRCh37Chr X, 152958816: 152958816
8SLC6A8NM_ 005629.3(SLC6A8): c.395G> T (p.Gly132Val)SNVPathogenicrs122453117GRCh37Chr X, 152956759: 152956759
9SLC6A8NM_ 005629.3(SLC6A8): c.1473C> G (p.Cys491Trp)SNVPathogenicrs122453118GRCh37Chr X, 152959879: 152959879
10SLC6A8SLC6A8, 3-BP DEL, 1006AACdeletionPathogenic
11SLC6A8NM_ 005629.3(SLC6A8): c.321_ 323delCTT (p.Phe107del)deletionPathogenicrs80338739GRCh37Chr X, 152955888: 152955890
12SLC6A8NM_ 005629.3(SLC6A8): c.974_ 975delCA (p.Thr325Serfs)deletionPathogenicrs1060502808GRCh38Chr X, 153693324: 153693325
13SLC6A8NM_ 005629.3(SLC6A8): c.1631C> T (p.Pro544Leu)SNVPathogenicrs397515558GRCh37Chr X, 152960208: 152960208
14SLC6A8NM_ 005629.3(SLC6A8): c.1661C> T (p.Pro554Leu)SNVPathogenicrs397515559GRCh37Chr X, 152960238: 152960238

Expression for genes affiliated with Cerebral Creatine Deficiency Syndrome 1

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Search GEO for disease gene expression data for Cerebral Creatine Deficiency Syndrome 1.

Pathways for genes affiliated with Cerebral Creatine Deficiency Syndrome 1

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Pathways related to Cerebral Creatine Deficiency Syndrome 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5GAMT, GATM
2
Show member pathways
9.0GAMT, GATM, MAOA
3
Show member pathways
9.0GAMT, GATM, MAOA

GO Terms for genes affiliated with Cerebral Creatine Deficiency Syndrome 1

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Biological processes related to Cerebral Creatine Deficiency Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1creatine biosynthetic processGO:000660110.0GAMT, GATM
2creatine metabolic processGO:00066009.6GAMT, GATM, SLC6A8
3muscle contractionGO:00069369.6GAMT, SLC6A8

Sources for Cerebral Creatine Deficiency Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet