MCID: CRB151
MIFTS: 46

Cerebral Creatine Deficiency Syndrome 1 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 51 11 69
X-Linked Creatine Deficiency Syndrome 47 25 69 26
Creatine Transporter Deficiency 11 25 53 13
Slc6a8 Deficiency 11 25 53
X-Linked Creatine Transporter Deficiency 47 53
Creatine Deficiency, X-Linked 47 67
X-Linked Creatine Deficiency 47 25
Creatine Transporter Defect 25 69
 
Mental Retardation , X-Linked with Seizures, Short Stature and Midface Hypoplasia 47
X-Linked Mental Retardation with Seizures, Short Stature, and Midface Hypoplasia 69
Mental Retardation , X-Linked, with Creatine Transport Deficiency 47
X-Linked Mental Retardation with Creatine Transport Deficiency 69
Slc6a8-Related Creatine Transporter Deficiency 25
Creatine Deficiency Syndrome, X-Linked 12
Ccds1 69

Characteristics:

Orphanet epidemiological data:

53
creatine transporter deficiency:
Inheritance: Not applicable,X-linked recessive; Age of onset: Childhood,Infancy; Age of death: adult

HPO:

63
cerebral creatine deficiency syndrome 1:
Inheritance: x-linked recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 300352
Disease Ontology11 DOID:0050800
Orphanet53 ORPHA52503
ICD10 via Orphanet30 E72.8
MedGen36 C1845862

Summaries for Cerebral Creatine Deficiency Syndrome 1

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NIH Rare Diseases:47 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 abnormality of metabolism/homeostasis, neurological speech impairment and cognitive impairment. 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 adipose tissue and behavior/neurological.

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:51 Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental... (300352) more...

UniProtKB/Swiss-Prot:69 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 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:

 63 53 (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis63 hallmark (90%) HP:0001939
2 neurological speech impairment63 hallmark (90%) HP:0002167
3 cognitive impairment63 hallmark (90%) HP:0100543
4 open mouth63 53 typical (50%) Frequent (79-30%) HP:0000194
5 autism63 typical (50%) HP:0000717
6 seizures63 53 typical (50%) Very frequent (99-80%) HP:0001250
7 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
8 hypertonia63 53 typical (50%) Frequent (79-30%) HP:0001276
9 constipation63 53 typical (50%) Frequent (79-30%) HP:0002019
10 aganglionic megacolon63 53 typical (50%) Frequent (79-30%) HP:0002251
11 incoordination63 typical (50%) HP:0002311
12 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
13 decreased body weight63 typical (50%) HP:0004325
14 intestinal obstruction63 typical (50%) HP:0005214
15 hypoplasia of the zygomatic bone63 typical (50%) HP:0010669
16 abnormality of movement63 typical (50%) HP:0100022
17 microcephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000252
18 mask-like facies63 53 occasional (7.5%) Occasional (29-5%) HP:0000298
19 ptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000508
20 cutis laxa63 occasional (7.5%) HP:0000973
21 joint hypermobility63 occasional (7.5%) HP:0001382
22 tall stature63 HP:0000098
23 malar flattening63 53 Frequent (79-30%) HP:0000272
24 narrow face63 HP:0000275
25 long face63 HP:0000276
26 mandibular prognathia63 HP:0000303
27 broad forehead63 HP:0000337
28 hypermetropia63 HP:0000540
29 exotropia63 HP:0000577
30 aggressive behavior63 HP:0000718
31 stereotypy63 HP:0000733
32 impaired social interactions63 HP:0000735
33 delayed speech and language development63 53 Very frequent (99-80%) HP:0000750
34 intellectual disability63 53 Very frequent (99-80%) HP:0001249
35 spasticity63 HP:0001257
36 global developmental delay63 53 Very frequent (99-80%) HP:0001263
37 motor delay63 HP:0001270
38 gait disturbance63 HP:0001288
39 neonatal hypotonia63 HP:0001319
40 dystonia63 53 Frequent (79-30%) HP:0001332
41 failure to thrive63 HP:0001508
42 pes cavus63 HP:0001761
43 vomiting63 HP:0002013
44 myopathic facies63 HP:0002058
45 hypoplasia of the corpus callosum63 HP:0002079
46 ileus63 53 Frequent (79-30%) HP:0002595
47 attention deficit hyperactivity disorder63 HP:0007018
48 poor hand-eye coordination63 HP:0007057
49 underfolded superior helices63 HP:0008583
50 feeding difficulties in infancy63 HP:0008872
51 midface retrusion63 HP:0011800
52 delayed myelination63 HP:0012448
53 autistic behavior53 Frequent (79-30%)
54 self-mutilation53 Frequent (79-30%)
55 ataxia53 Frequent (79-30%)
56 chorea53 Frequent (79-30%)
57 hyperactivity53 Frequent (79-30%)
58 redundant skin53 Occasional (29-5%)
59 athetosis53 Frequent (79-30%)
60 cachexia53 Frequent (79-30%)
61 joint hyperflexibility53 Occasional (29-5%)
62 abnormality of creatine metabolism53 Very frequent (99-80%)

UMLS symptoms related to Cerebral Creatine Deficiency Syndrome 1:


constipation, muscle spasticity, seizures, vomiting, myopathic facies

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 2269015663-27-184093, 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 2179151-21-83385
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 21918114977-28-5148124, 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 25498
5
Telmisartanapproved, investigationalPhase 1264144701-48-465999
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 14095
7AngiotensinogenPhase 11161
8Angiotensin II Type 1 Receptor BlockersPhase 11078
9Angiotensin Receptor AntagonistsPhase 11173
10
Angiotensin IIPhase 1116268521-88-0, 11128-99-7172198, 65143
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, nutraceutical12657-00-1586
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-Linked26

Anatomical Context for Cerebral Creatine Deficiency Syndrome 1

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

35
Brain, Heart, Skin, Eye, Bone

Animal Models for Cerebral Creatine Deficiency Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Cerebral Creatine Deficiency Syndrome 1:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2FABP3, GAMT, GATM, SLC6A8
2MP:00053868.6FABP3, GAMT, GATM, MAOA, SLC6A8
3MP:00053768.6FABP3, GAMT, GATM, MAOA, SLC6A8

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:

69 (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 13)
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, 950AinsertionPathogenicChr na, -1: -1
5SLC6A8NM_005629.3(SLC6A8): c.259G> A (p.Gly87Arg)SNVPathogenicrs122453115GRCh37Chr X, 152954288: 152954288
6SLC6A8SLC6A8, IVS1AS, A-G, -2SNVPathogenicChr na, -1: -1
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, 1006AACdeletionPathogenicChr na, -1: -1
11SLC6A8NM_005629.3(SLC6A8): c.321_323delCTT (p.Phe107del)deletionPathogenicrs80338739GRCh37Chr X, 152955888: 152955890
12SLC6A8NM_005629.3(SLC6A8): c.1631C> T (p.Pro544Leu)SNVPathogenicrs397515558GRCh37Chr X, 152960208: 152960208
13SLC6A8NM_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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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
2muscle contractionGO:00069369.6GAMT, SLC6A8
3creatine metabolic processGO:00066009.2GAMT, GATM, SLC6A8

Sources for Cerebral Creatine Deficiency Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet