MCID: CRB151
MIFTS: 34

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 49 67
X-Linked Creatine Deficiency Syndrome 45 23 67 24
X-Linked Creatine Transporter Deficiency 45 51
Creatine Transporter Deficiency 23 51
Creatine Deficiency, X-Linked 45 65
X-Linked Creatine Deficiency 45 23
Creatine Transporter Defect 23 67
Slc6a8 Deficiency 23 51
 
Mental Retardation , X-Linked with Seizures, Short Stature and Midface Hypoplasia 45
X-Linked Mental Retardation with Seizures, Short Stature, and Midface Hypoplasia 67
Mental Retardation , X-Linked, with Creatine Transport Deficiency 45
X-Linked Mental Retardation with Creatine Transport Deficiency 67
Slc6a8-Related Creatine Transporter Deficiency 23
Creatine Deficiency Syndrome, X-Linked 11
Ccds1 67

Characteristics:

Orphanet epidemiological data:

51
x-linked creatine transporter deficiency:
Inheritance: Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: adult

HPO:

61
cerebral creatine deficiency syndrome 1:
Onset and clinical course: infantile onset
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 300352
Orphanet51 52503
ICD10 via Orphanet28 E72.8
MedGen34 C1845862
UMLS65 C1845862

Summaries for Cerebral Creatine Deficiency Syndrome 1

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NIH Rare Diseases:45 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 cognitive impairment, neurological speech impairment and abnormality of metabolism/homeostasis. 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.

Genetics Home Reference:23 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:49 Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental... (300352) more...

UniProtKB/Swiss-Prot:67 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.

Wikipedia:68 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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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:

 51 (show all 24)
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • metabolic anomalies
  • x-linked recessive inheritance
  • flat cheek bones/malar hypoplasia
  • mouth held open
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • constipation
  • intestinal obstruction/ileus
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • dystonia/torticollis/writer's cramp/blepharospasms
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autism/autistic disoders
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism
  • microcephaly
  • expressionless face/amimia
  • ptosis
  • loose skin/skin relaxation/excess skin/creases
  • hyperextensible joints/articular hyperlaxity

HPO human phenotypes related to Cerebral Creatine Deficiency Syndrome 1:

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

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 2254015663-27-184093, 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
Cisplatin
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
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 2168451-21-83385
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 21844114977-28-5148124, 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
Docefrez
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 24296
5Tubulin ModulatorsPhase 24279
6
Telmisartanapproved, investigationalPhase 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
7Antihypertensive AgentsPhase 13618
8AngiotensinogenPhase 11032
9
Angiotensin IIPhase 1103368521-88-0, 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
10Angiotensin II Type 1 Receptor BlockersPhase 1949
11Angiotensin Receptor AntagonistsPhase 11039

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

Search NIH Clinical Center for Cerebral Creatine Deficiency Syndrome 1

Genetic Tests for Cerebral Creatine Deficiency Syndrome 1

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Anatomical Context for Cerebral Creatine Deficiency Syndrome 1

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

33
Brain, Heart, Skin, Bone, Eye

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:

67 (show all 12)
id Symbol AA change Variation ID SNP ID
1SLC6A8p.Gly87ArgVAR_020525
2SLC6A8p.Gly381ArgVAR_020526
3SLC6A8p.Pro390LeuVAR_020527
4SLC6A8p.Pro554LeuVAR_020529
5SLC6A8p.Gly132ValVAR_063707
6SLC6A8p.Cys337TrpVAR_063708
7SLC6A8p.Cys491TrpVAR_063709
8SLC6A8p.Tyr80HisVAR_071791
9SLC6A8p.Gly383CysVAR_071792
10SLC6A8p.Ala448AspVAR_071793
11SLC6A8p.Val539IleVAR_071794
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet