MCID: CRB151
MIFTS: 50

Cerebral Creatine Deficiency Syndrome 1

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

Aliases & Classifications for Cerebral Creatine Deficiency Syndrome 1

MalaCards integrated aliases for Cerebral Creatine Deficiency Syndrome 1:

Name: Cerebral Creatine Deficiency Syndrome 1 57 12 75
Creatine Transporter Deficiency 12 25 59 15
Creatine Deficiency, X-Linked 53 29 6 73
X-Linked Creatine Deficiency Syndrome 53 25 75
Creatine Transporter Defect 57 25 75
Slc6a8 Deficiency 12 25 59
X-Linked Creatine Transporter Deficiency 53 59
Creatine Deficiency Syndrome, X-Linked 57 13
X-Linked Creatine Deficiency 53 25
Ccds1 57 75
Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia 57
Mental Retardation , X-Linked with Seizures, Short Stature and Midface Hypoplasia 53
X-Linked Mental Retardation with Seizures, Short Stature, and Midface Hypoplasia 75
Mental Retardation , X-Linked, with Creatine Transport Deficiency 53
Mental Retardation, X-Linked, with Creatine Transport Deficiency 57
X-Linked Mental Retardation with Creatine Transport Deficiency 75
Deficiency, Cerebral Creatine, Syndrome, Type 1 ) 40
Slc6a8-Related Creatine Transporter Deficiency 25

Characteristics:

Orphanet epidemiological data:

59
x-linked creatine transporter deficiency
Inheritance: Not applicable,X-linked recessive; Age of onset: Childhood,Infancy; Age of death: adult;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
onset in first months of life
carrier females may show neuropsychologic impairment


HPO:

32
cerebral creatine deficiency syndrome 1:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Cerebral Creatine Deficiency Syndrome 1

NIH Rare Diseases : 53 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.

MalaCards based summary : Cerebral Creatine Deficiency Syndrome 1, also known as creatine transporter deficiency, is related to cerebral creatine deficiency syndrome 3 and cerebral creatine deficiency syndrome 2, and has symptoms including constipation, muscle spasticity and seizures. An important gene associated with Cerebral Creatine Deficiency Syndrome 1 is SLC6A8 (Solute Carrier Family 6 Member 8), and among its related pathways/superpathways are Arginine and proline metabolism and Glycine, serine and threonine metabolism. The drugs Cisplatin and Docetaxel have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin, and related phenotypes are malar flattening and ptosis

OMIM : 57 Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment (summary by van de Kamp et al., 2011). (300352)

UniProtKB/Swiss-Prot : 75 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 : 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.

Wikipedia : 76 Creatine transporter defect (CTD) is an inborn error of creatine metabolism in which creatine is not... more...

Related Diseases for Cerebral Creatine Deficiency Syndrome 1

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 cerebral creatine deficiency syndrome 3 30.0 GAMT GATM SLC6A8
2 cerebral creatine deficiency syndrome 2 29.8 GAMT GATM SLC6A8
3 creatine deficiency syndromes 28.6 GAMT GATM SLC6A8
4 cerebritis 10.0
5 autism 9.9
6 aging 9.8
7 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.8
8 autism spectrum disorder 9.8
9 epilepsy 9.8
10 mitochondrial disorders 9.8
11 encephalopathy 9.8
12 amino acid metabolic disorder 9.4 GAMT SLC6A8
13 cerebral creatine deficiency syndrome 7.6 BCAP31 FABP3 GAMT GATM SLC6A8

Graphical network of the top 20 diseases related to Cerebral Creatine Deficiency Syndrome 1:



Diseases related to Cerebral Creatine Deficiency Syndrome 1

Symptoms & Phenotypes for Cerebral Creatine Deficiency Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
exotropia
hypermetropia

Growth Other:
failure to thrive

Head And Neck Head:
microcephaly
decreased head circumference

Neurologic Behavioral Psychiatric Manifestations:
attention deficit hyperactivity disorder
aggressive behavior
behavioral changes consistent with an autistic disorder
stereotypical motor behaviors
impaired social interaction

Growth Weight:
low weight

Head And Neck Ears:
unfolded superior helices

Skeletal Feet:
pes cavus (less common)

Neurologic Central Nervous System:
seizures
spasticity
dystonia
motor delay
delayed myelination
more
Abdomen Gastrointestinal:
constipation
vomiting
ileus
poor feeding
megacolon

Growth Height:
short stature
tall stature

Head And Neck Face:
broad forehead
myopathic facies
midface hypoplasia
prominent chin
long, thin face

Skeletal Limbs:
hyperextensible joints

Skeletal Hands:
stub thumb

Laboratory Abnormalities:
impaired creatine uptake in fibroblasts
increased urinary creatine
increased plasma creatine
increased urinary creatine-to-creatinine ratio


Clinical features from OMIM:

300352

Human phenotypes related to Cerebral Creatine Deficiency Syndrome 1:

59 32 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
2 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
5 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
8 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
9 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
11 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
12 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
13 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
14 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
15 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
16 mask-like facies 59 32 occasional (7.5%) Occasional (29-5%) HP:0000298
17 cachexia 59 32 frequent (33%) Frequent (79-30%) HP:0004326
18 aganglionic megacolon 59 32 frequent (33%) Frequent (79-30%) HP:0002251
19 ileus 59 32 frequent (33%) Frequent (79-30%) HP:0002595
20 open mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000194
21 redundant skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0001582
22 autistic behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000729
23 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
24 athetosis 59 32 frequent (33%) Frequent (79-30%) HP:0002305
25 self-mutilation 59 32 frequent (33%) Frequent (79-30%) HP:0000742
26 abnormality of creatine metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0012113
27 spasticity 32 HP:0001257
28 gait disturbance 32 HP:0001288
29 failure to thrive 32 HP:0001508
30 mandibular prognathia 32 HP:0000303
31 neonatal hypotonia 32 HP:0001319
32 feeding difficulties in infancy 32 HP:0008872
33 stereotypy 32 HP:0000733
34 vomiting 32 HP:0002013
35 abnormality of metabolism/homeostasis 32 HP:0001939
36 attention deficit hyperactivity disorder 32 HP:0007018
37 pes cavus 32 HP:0001761
38 broad forehead 32 HP:0000337
39 impaired social interactions 32 HP:0000735
40 narrow face 32 HP:0000275
41 joint hypermobility 32 HP:0001382
42 long face 32 HP:0000276
43 aggressive behavior 32 HP:0000718
44 midface retrusion 32 HP:0011800
45 tall stature 32 HP:0000098
46 motor delay 32 HP:0001270
47 myopathic facies 32 HP:0002058
48 hypoplasia of the corpus callosum 32 HP:0002079
49 generalized hypotonia 32 HP:0001290
50 exotropia 32 HP:0000577

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 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.05 GATM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.05 SLC6A8
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.05 SLC6A8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.05 SLC6A8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.05 GAMT GATM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.05 GATM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.05 GATM
8 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.05 SLC6A8
9 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.05 SLC6A8
10 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.05 GAMT
11 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.05 GATM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.05 GATM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.05 GAMT
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.05 GAMT
15 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.05 SLC6A8
16 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.05 GAMT
17 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.05 GAMT SLC6A8
18 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.05 GATM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.05 SLC6A8
20 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.05 GATM
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.05 GAMT
22 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.05 GAMT
23 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.05 GAMT SLC6A8

MGI Mouse Phenotypes related to Cerebral Creatine Deficiency Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.92 FABP3 GAMT GATM SLC6A8

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
2
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
3
Fluorouracil Approved Phase 2 51-21-8 3385
4 Antimitotic Agents Phase 2
5
Creatine Approved, Investigational, Nutraceutical 57-00-1 586

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cyclin D1 Based TPF Induction Chemotherapy for Oral Squamous Cell Carcinoma Patients at Clinical N2 Stage Recruiting NCT02290145 Phase 2 TPF group
2 Observational Study of Males With Creatine Transporter Deficiency Recruiting NCT02931682
3 Biomarker for Creatine Deficiency Syndromes Terminated NCT02934854

Search NIH Clinical Center for Cerebral Creatine Deficiency Syndrome 1

Genetic Tests for Cerebral Creatine Deficiency Syndrome 1

Genetic tests related to Cerebral Creatine Deficiency Syndrome 1:

# Genetic test Affiliating Genes
1 Creatine Deficiency, X-Linked 29 SLC6A8

Anatomical Context for Cerebral Creatine Deficiency Syndrome 1

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

41
Brain, Heart, Skin, Eye

Publications for Cerebral Creatine Deficiency Syndrome 1

Articles related to Cerebral Creatine Deficiency Syndrome 1:

(show all 31)
# Title Authors Year
1
Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity. ( 28065824 )
2016
2
Creatine transporter deficiency leads to increased whole body and cellular metabolism. ( 27401086 )
2016
3
A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging. ( 27466184 )
2016
4
Creatine transporter deficiency: Novel mutations and functional studies. ( 27408820 )
2016
5
Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case. ( 27096572 )
2016
6
A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency. ( 27081545 )
2015
7
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. ( 25861866 )
2015
8
A novel mouse model of creatine transporter deficiency. ( 25485098 )
2014
9
Dodecyl creatine ester and lipid nanocapsule: a double strategy for the treatment of creatine transporter deficiency. ( 24559037 )
2014
10
Effects of amide creatine derivatives in brain hippocampal slices, and their possible usefulness for curing creatine transporter deficiency. ( 24213972 )
2014
11
X-linked creatine transporter deficiency: clinical aspects and pathophysiology. ( 24789340 )
2014
12
Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits. ( 23716276 )
2014
13
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8. ( 24045174 )
2013
14
Synthesis and biological evaluation of new creatine fatty esters revealed dodecyl creatine ester as a promising drug candidate for the treatment of the creatine transporter deficiency. ( 23697594 )
2013
15
New insights into creatine transporter deficiency: the importance of recycling creatine in the brain. ( 22968583 )
2013
16
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. ( 23644449 )
2013
17
Phenotypic variability in a portuguese family with x-linked creatine transport deficiency. ( 22196490 )
2012
18
Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patients. ( 23430891 )
2012
19
Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency. ( 22751104 )
2012
20
Searching for a therapy of creatine transporter deficiency: some effects of creatine ethyl ester in brain slices in vitro. ( 21963865 )
2011
21
X-linked creatine transporter deficiency presenting as a mitochondrial disorder. ( 20501887 )
2010
22
Creatine transporter deficiency in two half-brothers. ( 20602486 )
2010
23
Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency. ( 19955008 )
2010
24
A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene. ( 20002129 )
2010
25
Epilepsy spectrum in cerebral creatine transporter deficiency. ( 19706062 )
2009
26
Creatine transporter deficiency in two adult patients with static encephalopathy. ( 19319661 )
2009
27
[Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease]. ( 17385170 )
2007
28
Screening of male patients with autism spectrum disorder for creatine transporter deficiency. ( 18461508 )
2007
29
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. ( 17825809 )
2007
30
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism. ( 16601898 )
2006
31
X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation. ( 16086185 )
2005

Variations for Cerebral Creatine Deficiency Syndrome 1

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

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 SLC6A8 p.Gly87Arg VAR_020525 rs122453115
2 SLC6A8 p.Gly381Arg VAR_020526 rs122453114
3 SLC6A8 p.Pro390Leu VAR_020527
4 SLC6A8 p.Pro554Leu VAR_020529 rs397515559
5 SLC6A8 p.Gly132Val VAR_063707 rs122453117
6 SLC6A8 p.Cys337Trp VAR_063708 rs122453116
7 SLC6A8 p.Cys491Trp VAR_063709 rs122453118
8 SLC6A8 p.Tyr80His VAR_071791
9 SLC6A8 p.Gly383Cys VAR_071792
10 SLC6A8 p.Ala448Asp VAR_071793
11 SLC6A8 p.Val539Ile VAR_071794 rs782354054
12 SLC6A8 p.Arg391Trp VAR_075566

ClinVar genetic disease variations for Cerebral Creatine Deficiency Syndrome 1:

6
(show top 50) (show all 145)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC6A8 NM_005629.3(SLC6A8): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs122453113 GRCh37 Chromosome X, 152960032: 152960032
2 SLC6A8 NM_005629.3(SLC6A8): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs122453113 GRCh38 Chromosome X, 153694577: 153694577
3 SLC6A8 NM_005629.3(SLC6A8): c.1141G> C (p.Gly381Arg) single nucleotide variant Pathogenic rs122453114 GRCh37 Chromosome X, 152959041: 152959041
4 SLC6A8 NM_005629.3(SLC6A8): c.1141G> C (p.Gly381Arg) single nucleotide variant Pathogenic rs122453114 GRCh38 Chromosome X, 153693586: 153693586
5 SLC6A8 NM_005629.3(SLC6A8): c.1222_1224delTTC (p.Phe408del) deletion Pathogenic rs80338740 GRCh37 Chromosome X, 152959440: 152959442
6 SLC6A8 NM_005629.3(SLC6A8): c.1222_1224delTTC (p.Phe408del) deletion Pathogenic rs80338740 GRCh38 Chromosome X, 153693985: 153693987
7 SLC6A8 SLC6A8, 1-BP INS, 950A insertion Pathogenic
8 SLC6A8 NM_005629.3(SLC6A8): c.259G> A (p.Gly87Arg) single nucleotide variant Pathogenic rs122453115 GRCh37 Chromosome X, 152954288: 152954288
9 SLC6A8 NM_005629.3(SLC6A8): c.259G> A (p.Gly87Arg) single nucleotide variant Pathogenic rs122453115 GRCh38 Chromosome X, 153688833: 153688833
10 SLC6A8 SLC6A8, IVS1AS, A-G, -2 single nucleotide variant Pathogenic
11 SLC6A8 NM_005629.3(SLC6A8): c.1011C> G (p.Cys337Trp) single nucleotide variant Pathogenic rs122453116 GRCh37 Chromosome X, 152958816: 152958816
12 SLC6A8 NM_005629.3(SLC6A8): c.1011C> G (p.Cys337Trp) single nucleotide variant Pathogenic rs122453116 GRCh38 Chromosome X, 153693361: 153693361
13 SLC6A8 NM_005629.3(SLC6A8): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic rs122453117 GRCh37 Chromosome X, 152956759: 152956759
14 SLC6A8 NM_005629.3(SLC6A8): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic rs122453117 GRCh38 Chromosome X, 153691304: 153691304
15 SLC6A8 NM_005629.3(SLC6A8): c.1473C> G (p.Cys491Trp) single nucleotide variant Pathogenic rs122453118 GRCh37 Chromosome X, 152959879: 152959879
16 SLC6A8 NM_005629.3(SLC6A8): c.1473C> G (p.Cys491Trp) single nucleotide variant Pathogenic rs122453118 GRCh38 Chromosome X, 153694424: 153694424
17 SLC6A8 SLC6A8, 3-BP DEL, 1006AAC deletion Pathogenic
18 SLC6A8 NM_005629.3(SLC6A8): c.321_323delCTT (p.Phe107del) deletion Pathogenic/Likely pathogenic rs80338739 GRCh37 Chromosome X, 152955888: 152955890
19 SLC6A8 NM_005629.3(SLC6A8): c.321_323delCTT (p.Phe107del) deletion Pathogenic/Likely pathogenic rs80338739 GRCh38 Chromosome X, 153690433: 153690435
20 SLC6A8 NM_005629.3(SLC6A8): c.1631C> T (p.Pro544Leu) single nucleotide variant Pathogenic rs397515558 GRCh37 Chromosome X, 152960208: 152960208
21 SLC6A8 NM_005629.3(SLC6A8): c.1631C> T (p.Pro544Leu) single nucleotide variant Pathogenic rs397515558 GRCh38 Chromosome X, 153694753: 153694753
22 SLC6A8 NM_005629.3(SLC6A8): c.1661C> T (p.Pro554Leu) single nucleotide variant Pathogenic rs397515559 GRCh37 Chromosome X, 152960238: 152960238
23 SLC6A8 NM_005629.3(SLC6A8): c.1661C> T (p.Pro554Leu) single nucleotide variant Pathogenic rs397515559 GRCh38 Chromosome X, 153694783: 153694783
24 SLC6A8 NM_005629.3(SLC6A8): c.87G> A (p.Gly29=) single nucleotide variant Benign/Likely benign rs782373793 GRCh37 Chromosome X, 152954116: 152954116
25 SLC6A8 NM_005629.3(SLC6A8): c.87G> A (p.Gly29=) single nucleotide variant Benign/Likely benign rs782373793 GRCh38 Chromosome X, 153688661: 153688661
26 SLC6A8 NM_005629.3(SLC6A8): c.1437C> T (p.Ser479=) single nucleotide variant Benign/Likely benign rs140115896 GRCh37 Chromosome X, 152959843: 152959843
27 SLC6A8 NM_005629.3(SLC6A8): c.1437C> T (p.Ser479=) single nucleotide variant Benign/Likely benign rs140115896 GRCh38 Chromosome X, 153694388: 153694388
28 SLC6A8 NM_005629.3(SLC6A8): c.1768-3C> T single nucleotide variant Benign rs150207268 GRCh37 Chromosome X, 152960526: 152960526
29 SLC6A8 NM_005629.3(SLC6A8): c.1768-3C> T single nucleotide variant Benign rs150207268 GRCh38 Chromosome X, 153695071: 153695071
30 SLC6A8 NM_005629.3(SLC6A8): c.1890G> C (p.Val630=) single nucleotide variant Benign/Likely benign rs376385129 GRCh38 Chromosome X, 153695196: 153695196
31 SLC6A8 NM_005629.3(SLC6A8): c.1890G> C (p.Val630=) single nucleotide variant Benign/Likely benign rs376385129 GRCh37 Chromosome X, 152960651: 152960651
32 SLC6A8 NM_005629.3(SLC6A8): c.1649C> G (p.Thr550Ser) single nucleotide variant Benign/Likely benign rs199635059 GRCh38 Chromosome X, 153694771: 153694771
33 SLC6A8 NM_005629.3(SLC6A8): c.1649C> G (p.Thr550Ser) single nucleotide variant Benign/Likely benign rs199635059 GRCh37 Chromosome X, 152960226: 152960226
34 SLC6A8 NM_005629.3(SLC6A8): c.1496-8C> T single nucleotide variant Benign rs376038235 GRCh37 Chromosome X, 152959980: 152959980
35 SLC6A8 NM_005629.3(SLC6A8): c.1496-8C> T single nucleotide variant Benign rs376038235 GRCh38 Chromosome X, 153694525: 153694525
36 SLC6A8 NM_005629.3(SLC6A8): c.1494C> T (p.Tyr498=) single nucleotide variant Benign/Likely benign rs143916832 GRCh37 Chromosome X, 152959900: 152959900
37 SLC6A8 NM_005629.3(SLC6A8): c.1494C> T (p.Tyr498=) single nucleotide variant Benign/Likely benign rs143916832 GRCh38 Chromosome X, 153694445: 153694445
38 SLC6A8 NM_005629.3(SLC6A8): c.780C> T (p.Ile260=) single nucleotide variant Benign rs148232368 GRCh37 Chromosome X, 152958498: 152958498
39 SLC6A8 NM_005629.3(SLC6A8): c.780C> T (p.Ile260=) single nucleotide variant Benign rs148232368 GRCh38 Chromosome X, 153693043: 153693043
40 SLC6A8 NM_005629.3(SLC6A8): c.813C> T (p.Val271=) single nucleotide variant Benign/Likely benign rs138064933 GRCh37 Chromosome X, 152958531: 152958531
41 SLC6A8 NM_005629.3(SLC6A8): c.813C> T (p.Val271=) single nucleotide variant Benign/Likely benign rs138064933 GRCh38 Chromosome X, 153693076: 153693076
42 SLC6A8 NM_005629.3(SLC6A8): c.912+9G> A single nucleotide variant Benign/Likely benign rs782694291 GRCh38 Chromosome X, 153693184: 153693184
43 SLC6A8 NM_005629.3(SLC6A8): c.912+9G> A single nucleotide variant Benign/Likely benign rs782694291 GRCh37 Chromosome X, 152958639: 152958639
44 SLC6A8 NM_005629.3(SLC6A8): c.644+8C> T single nucleotide variant Likely benign rs782433720 GRCh37 Chromosome X, 152957016: 152957016
45 SLC6A8 NM_005629.3(SLC6A8): c.644+8C> T single nucleotide variant Likely benign rs782433720 GRCh38 Chromosome X, 153691561: 153691561
46 SLC6A8 NM_005629.3(SLC6A8): c.777+4C> T single nucleotide variant Benign/Likely benign rs201581661 GRCh37 Chromosome X, 152957566: 152957566
47 SLC6A8 NM_005629.3(SLC6A8): c.777+4C> T single nucleotide variant Benign/Likely benign rs201581661 GRCh38 Chromosome X, 153692111: 153692111
48 SLC6A8 NM_005629.3(SLC6A8): c.1016+9C> T single nucleotide variant Benign/Likely benign rs190690083 GRCh37 Chromosome X, 152958830: 152958830
49 SLC6A8 NM_005629.3(SLC6A8): c.1016+9C> T single nucleotide variant Benign/Likely benign rs190690083 GRCh38 Chromosome X, 153693375: 153693375
50 SLC6A8 NM_005629.3(SLC6A8): c.1496-5C> T single nucleotide variant Benign rs200695210 GRCh37 Chromosome X, 152959983: 152959983

Expression for Cerebral Creatine Deficiency Syndrome 1

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

Pathways for Cerebral Creatine Deficiency Syndrome 1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.91 GAMT GATM
2
Show member pathways
10.67 GAMT GATM
3
Show member pathways
10 GAMT GATM

GO Terms for Cerebral Creatine Deficiency Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.16 GAMT SLC6A8
2 creatine biosynthetic process GO:0006601 8.96 GAMT GATM
3 creatine metabolic process GO:0006600 8.8 GAMT GATM SLC6A8

Sources for Cerebral Creatine Deficiency Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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