MCID: CRB151
MIFTS: 36

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 50 68
X-Linked Creatine Deficiency Syndrome 46 24 68
Creatine Deficiency, X-Linked 46 25 66
X-Linked Creatine Transporter Deficiency 46 52
Creatine Transporter Deficiency 24 52
X-Linked Creatine Deficiency 46 24
Creatine Transporter Defect 24 68
Slc6a8 Deficiency 24 52
 
Mental Retardation , X-Linked with Seizures, Short Stature and Midface Hypoplasia 46
X-Linked Mental Retardation with Seizures, Short Stature, and Midface Hypoplasia 68
Mental Retardation , X-Linked, with Creatine Transport Deficiency 46
X-Linked Mental Retardation with Creatine Transport Deficiency 68
Slc6a8-Related Creatine Transporter Deficiency 24
Creatine Deficiency Syndrome, X-Linked 12
Ccds1 68

Characteristics:

Orphanet epidemiological data:

52
x-linked creatine transporter deficiency:
Inheritance: Not applicable,X-linked recessive; Age of onset: Childhood,Infancy; Age of death: adult

HPO:

62
cerebral creatine deficiency syndrome 1:
Inheritance: x-linked recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 300352
Orphanet52 ORPHA52503
ICD10 via Orphanet29 E72.8
MedGen35 C1845862

Summaries for Cerebral Creatine Deficiency Syndrome 1

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NIH Rare Diseases:46 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 creatine transporter deficiency, 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). Affiliated tissues include brain, heart and skin.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental... (300352) more...

Wikipedia:69 Creatine transporter defect (CTD) is an X-linked disorder of creatine metabolism caused by defective... more...

Related Diseases for Cerebral Creatine Deficiency Syndrome 1

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Diseases related to Cerebral Creatine Deficiency Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1slc6a8-related creatine transporter deficiency11.4
2creatine transporter deficiency11.2
3creatine deficiency syndromes10.0
4cerebral creatine deficiency syndrome 310.0
5cerebral creatine deficiency syndrome 210.0

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

Symptoms:

 52 (show all 26)
  • open mouth
  • microcephaly
  • malar flattening
  • mask-like facies
  • ptosis
  • autistic behavior
  • self-mutilation
  • delayed speech and language development
  • intellectual disability
  • seizures
  • ataxia
  • muscular hypotonia
  • global developmental delay
  • hypertonia
  • dystonia
  • constipation
  • chorea
  • hyperactivity
  • redundant skin
  • aganglionic megacolon
  • athetosis
  • ileus
  • short stature
  • cachexia
  • joint hyperflexibility
  • abnormality of creatine metabolism

HPO human phenotypes related to Cerebral Creatine Deficiency Syndrome 1:

(show all 60)
id Description Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
2 neurological speech impairment hallmark (90%) HP:0002167
3 cognitive impairment hallmark (90%) HP:0100543
4 open mouth typical (50%) HP:0000194
5 autism typical (50%) HP:0000717
6 seizures typical (50%) HP:0001250
7 muscular hypotonia typical (50%) HP:0001252
8 hypertonia typical (50%) HP:0001276
9 constipation typical (50%) HP:0002019
10 aganglionic megacolon typical (50%) HP:0002251
11 incoordination typical (50%) HP:0002311
12 short stature typical (50%) HP:0004322
13 decreased body weight typical (50%) HP:0004325
14 intestinal obstruction typical (50%) HP:0005214
15 hypoplasia of the zygomatic bone typical (50%) HP:0010669
16 abnormality of movement typical (50%) HP:0100022
17 microcephaly occasional (7.5%) HP:0000252
18 mask-like facies occasional (7.5%) HP:0000298
19 ptosis occasional (7.5%) HP:0000508
20 cutis laxa occasional (7.5%) HP:0000973
21 joint hypermobility occasional (7.5%) HP:0001382
22 tall stature HP:0000098
23 microcephaly HP:0000252
24 malar flattening HP:0000272
25 narrow face HP:0000275
26 long face HP:0000276
27 mandibular prognathia HP:0000303
28 broad forehead HP:0000337
29 ptosis HP:0000508
30 hypermetropia HP:0000540
31 exotropia HP:0000577
32 aggressive behavior HP:0000718
33 stereotypy HP:0000733
34 impaired social interactions HP:0000735
35 delayed speech and language development HP:0000750
36 intellectual disability HP:0001249
37 seizures HP:0001250
38 spasticity HP:0001257
39 global developmental delay HP:0001263
40 motor delay HP:0001270
41 gait disturbance HP:0001288
42 neonatal hypotonia HP:0001319
43 dystonia HP:0001332
44 joint hypermobility HP:0001382
45 failure to thrive HP:0001508
46 pes cavus HP:0001761
47 abnormality of metabolism/homeostasis HP:0001939
48 vomiting HP:0002013
49 constipation HP:0002019
50 myopathic facies HP:0002058
51 hypoplasia of the corpus callosum HP:0002079
52 aganglionic megacolon HP:0002251
53 ileus HP:0002595
54 short stature HP:0004322
55 attention deficit hyperactivity disorder HP:0007018
56 poor hand-eye coordination HP:0007057
57 underfolded superior helices HP:0008583
58 feeding difficulties in infancy HP:0008872
59 midface retrusion HP:0011800
60 delayed myelination HP:0012448

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DocetaxelApproved May 1996Phase 21880114977-28-5148124, 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
2
CisplatinPhase 2261415663-27-184093, 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)
3
FluorouracilPhase 2172851-21-83385
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
4
TelmisartanPhase 1260144701-48-465999
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
5
angiotensin IIPhase 1113568521-88-0, 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

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

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-Linked25

Anatomical Context for Cerebral Creatine Deficiency Syndrome 1

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

34
Brain, Heart, Skin, Eye, Bone

Animal Models for Cerebral Creatine Deficiency Syndrome 1 or affiliated genes

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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:

68 (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)single nucleotide variantPathogenicrs122453113GRCh37Chr X, 152960032: 152960032
2SLC6A8NM_005629.3(SLC6A8): c.1141G> C (p.Gly381Arg)single nucleotide variantPathogenicrs122453114GRCh37Chr 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)single nucleotide variantPathogenicrs122453115GRCh37Chr X, 152954288: 152954288
6SLC6A8SLC6A8, IVS1AS, A-G, -2single nucleotide variantPathogenic
7SLC6A8NM_005629.3(SLC6A8): c.1011C> G (p.Cys337Trp)single nucleotide variantPathogenicrs122453116GRCh37Chr X, 152958816: 152958816
8SLC6A8NM_005629.3(SLC6A8): c.395G> T (p.Gly132Val)single nucleotide variantPathogenicrs122453117GRCh37Chr X, 152956759: 152956759
9SLC6A8NM_005629.3(SLC6A8): c.1473C> G (p.Cys491Trp)single nucleotide variantPathogenicrs122453118GRCh37Chr 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.1631C> T (p.Pro544Leu)single nucleotide variantPathogenicrs397515558GRCh37Chr X, 152960208: 152960208
13SLC6A8NM_005629.3(SLC6A8): c.1661C> T (p.Pro554Leu)single nucleotide variantPathogenicrs397515559GRCh37Chr 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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Sources for Cerebral Creatine Deficiency Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet