CCDS1
MCID: CRB151
MIFTS: 50

Cerebral Creatine Deficiency Syndrome 1 (CCDS1)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare 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 72
Creatine Transporter Deficiency 12 43 58 29 6 15
X-Linked Creatine Deficiency Syndrome 20 43 72 36
Creatine Transporter Defect 57 43 72
Slc6a8 Deficiency 12 43 58
X-Linked Creatine Transporter Deficiency 20 58
Creatine Deficiency Syndrome, X-Linked 57 13
Creatine Deficiency, X-Linked 20 70
X-Linked Creatine Deficiency 20 43
Ccds1 57 72
Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia 57
X-Linked Mental Retardation with Seizures, Short Stature, and Midface Hypoplasia 72
Mental Retardation, X-Linked, with Creatine Transport Deficiency 57
X-Linked Mental Retardation with Creatine Transport Deficiency 72
Deficiency, Cerebral Creatine, Syndrome, Type 1 39
Slc6a8-Related Creatine Transporter Deficiency 43

Characteristics:

Orphanet epidemiological data:

58
x-linked creatine transporter deficiency
Inheritance: Not applicable,X-linked recessive; Age of onset: Childhood,Infancy; Age of death: adult;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
onset in first months of life
carrier females may show neuropsychologic impairment

Inheritance:
x-linked recessive


HPO:

31
cerebral creatine deficiency syndrome 1:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Cerebral Creatine Deficiency Syndrome 1

MedlinePlus Genetics : 43 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 (ADHD) 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.A small number of people with X-linked creatine deficiency have additional signs and symptoms including abnormal heart rhythms, an unusually small head (microcephaly), or distinctive facial features such as a broad forehead and a flat or sunken appearance of the middle of the face (midface hypoplasia).

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 seizures, constipation and vomiting. 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 Glycine, serine and threonine metabolism and Arginine and proline metabolism. The drug Creatine has been mentioned in the context of this disorder. Affiliated tissues include eye, brain and retina, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has material basis in mutation in the SLC6A8 gene on chromosome Xq28.

GARD : 20 X-linked creatine deficiency primarily affects development of the brain and nervous system. Symptoms can begin at any age, but usually begin in early childhood. These symptoms can include mild to severe intellectual disability, delayed speech development, behavioral problems, and seizures. The intellectual disability may get worse over time. X-linked creatine deficiency is caused by a SLC6A8 gene that is not working correctly. It is inherited in an X-linked pattern. Diagnosis is based on screening tests, clinical exam, and genetic testing. Treatment is focused on managing the symptoms.

OMIM® : 57 Cerebral creatine deficiency syndrome-1 (CCDS1) 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) (Updated 20-May-2021)

KEGG : 36 Creatine deficiency syndromes are inborn errors of metabolism resulting in a progressive encephalopathy with early onset mental retardation, extrapyramidal features, and drug resistant epilepsy. X-linked creatine deficiency syndrome is caused by mutations in SLC6A8 gene that encodes creatine transporter.

UniProtKB/Swiss-Prot : 72 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

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 cerebral creatine deficiency syndrome 3 31.1 SLC6A8 HAPLN1 GATM GAMT
2 cerebral creatine deficiency syndrome 2 31.1 SLC6A8 HAPLN1 GATM GAMT
3 creatine deficiency syndromes 30.7 SLC6A8 GATM GAMT
4 cerebral creatine deficiency syndrome 30.5 SLC6A8 HAPLN1 GATM GAMT CKMT1B BCAP31
5 neurometabolic disease 29.9 SLC6A8 GATM GAMT
6 autism spectrum disorder 10.3
7 autism 10.3
8 alacrima, achalasia, and mental retardation syndrome 10.1
9 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.1
10 speech and communication disorders 10.1
11 anoxia 10.1
12 gyrate atrophy of choroid and retina 10.0 SLC6A8 GATM GAMT
13 constipation 10.0
14 agnosia 10.0
15 myopathy 10.0
16 inherited metabolic disorder 10.0
17 learning disability 10.0
18 hypotonia 10.0
19 amino acid metabolic disorder 10.0 SLC6A8 GATM GAMT
20 abnormal hair, joint laxity, and developmental delay 10.0
21 specific language disorder 10.0
22 enterocolitis 10.0
23 fragile x syndrome 10.0
24 aging 10.0
25 homocysteinemia 10.0
26 breath-holding spells 10.0
27 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.0
28 alcohol-related neurodevelopmental disorder 10.0
29 aphasia 10.0
30 apraxia 10.0
31 hyperekplexia 10.0
32 parkinsonism 10.0
33 microcephaly 10.0
34 epilepsy 10.0
35 movement disease 10.0
36 dystonia 10.0
37 perinatal necrotizing enterocolitis 10.0
38 encephalopathy 10.0
39 infantile hypotonia 10.0
40 lubs x-linked mental retardation syndrome 9.9 SLC6A8 BCAP31
41 partington x-linked mental retardation syndrome 9.8 SLC6A8 PQBP1 OPHN1
42 christianson syndrome 9.7 SLC9A7 SLC9A6
43 mowat-wilson syndrome 9.7 SLC9A7 SLC9A6
44 pitt-hopkins syndrome 9.6 SLC9A7 SLC9A6
45 congenital nervous system abnormality 9.6 SLC9A6 PQBP1
46 non-syndromic x-linked intellectual disability 9.6 SLC9A7 SLC6A8 OPHN1
47 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.5 SLC9A7 SLC9A6 OPHN1
48 syndromic x-linked intellectual disability 9.5 SLC9A7 SLC9A6 PQBP1
49 syndromic intellectual disability 9.4 SLC9A7 SLC9A6 PQBP1
50 disease of mental health 8.7 SLC9A7 SLC9A6 SLC6A8 PQBP1 OPHN1 HAPLN1

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

Human phenotypes related to Cerebral Creatine Deficiency Syndrome 1:

58 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
4 seizure 31 hallmark (90%) HP:0001250
5 abnormal circulating creatine concentration 31 hallmark (90%) HP:0012113
6 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
7 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
8 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
11 cachexia 58 31 frequent (33%) Frequent (79-30%) HP:0004326
12 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
13 aganglionic megacolon 58 31 frequent (33%) Frequent (79-30%) HP:0002251
14 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
15 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
16 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
17 athetosis 58 31 frequent (33%) Frequent (79-30%) HP:0002305
18 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
19 self-mutilation 58 31 frequent (33%) Frequent (79-30%) HP:0000742
20 ileus 58 31 frequent (33%) Frequent (79-30%) HP:0002595
21 hypotonia 31 frequent (33%) HP:0001252
22 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
23 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
24 mask-like facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0000298
25 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
26 redundant skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0001582
27 seizures 58 Very frequent (99-80%)
28 spasticity 31 HP:0001257
29 failure to thrive 31 HP:0001508
30 gait disturbance 31 HP:0001288
31 muscular hypotonia 58 Frequent (79-30%)
32 mandibular prognathia 31 HP:0000303
33 neonatal hypotonia 31 HP:0001319
34 feeding difficulties in infancy 31 HP:0008872
35 stereotypy 31 HP:0000733
36 vomiting 31 HP:0002013
37 attention deficit hyperactivity disorder 31 HP:0007018
38 motor delay 31 HP:0001270
39 narrow face 31 HP:0000275
40 joint hypermobility 31 HP:0001382
41 long face 31 HP:0000276
42 broad forehead 31 HP:0000337
43 pes cavus 31 HP:0001761
44 tall stature 31 HP:0000098
45 midface retrusion 31 HP:0011800
46 abnormality of metabolism/homeostasis 31 HP:0001939
47 hypoplasia of the corpus callosum 31 HP:0002079
48 aggressive behavior 31 HP:0000718
49 generalized hypotonia 31 HP:0001290
50 hypermetropia 31 HP:0000540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
spasticity
motor delay
dystonia
delayed myelination
more
Head And Neck Eyes:
ptosis
hypermetropia
exotropia

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)

Growth Other:
failure to thrive

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 (Updated 20-May-2021)

UMLS symptoms related to Cerebral Creatine Deficiency Syndrome 1:


seizures; constipation; vomiting; muscle spasticity

MGI Mouse Phenotypes related to Cerebral Creatine Deficiency Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.23 CKMT1B GAMT GATM HAPLN1 OPHN1 PQBP1

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
Creatine Approved, Investigational, Nutraceutical 57-00-1 586

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Observational Study of Males With Creatine Transporter Deficiency Recruiting NCT02931682

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 Transporter Deficiency 29 SLC6A8

Anatomical Context for Cerebral Creatine Deficiency Syndrome 1

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

40
Eye, Brain, Retina

Publications for Cerebral Creatine Deficiency Syndrome 1

Articles related to Cerebral Creatine Deficiency Syndrome 1:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 57 6 61
23660394 2013
2
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. 57 6 61
23644449 2013
3
X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation. 61 57 6
16086185 2005
4
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation. 57 6
17603797 2007
5
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. 6 57
17101918 2006
6
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. 57 6
16738945 2006
7
High prevalence of SLC6A8 deficiency in X-linked mental retardation. 57 6
15154114 2004
8
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. 57 6
12210795 2002
9
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. 57 6
11898126 2002
10
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. 6 57
11326334 2001
11
Creatine transporter deficiency: Novel mutations and functional studies. 61 6
27408820 2016
12
[A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case]. 6 61
25803912 2015
13
Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases. 57 61
24953403 2014
14
Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. 61 6
22281021 2012
15
Creatine transporter deficiency in two half-brothers. 6 61
20602486 2010
16
Epilepsy spectrum in cerebral creatine transporter deficiency. 6 61
19706062 2009
17
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. 6 61
17465020 2007
18
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism. 61 6
16601898 2006
19
Congenital creatine transporter deficiency. 6 61
12536364 2002
20
Whole genome sequencing of 45 Japanese patients with intellectual disability. 6
33624935 2021
21
Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts. 57
29478817 2018
22
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome. 6
22644605 2013
23
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms. 6
23234264 2012
24
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. 57
21556832 2012
25
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect. 57
21660517 2012
26
Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability. 6
21910234 2011
27
Clinical features and X-inactivation in females heterozygous for creatine transporter defect. 57
20528887 2011
28
Defining the pathogenicity of creatine deficiency syndrome. 6
21140503 2011
29
Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene. 57
21144783 2011
30
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. 6
21836662 2009
31
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation. 57
16143026 2005
32
Treatment experience in two adults with creatinfe transporter deficiency. 61
33665121 2021
33
Treatment efficacy of high-dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency. 61
33656256 2021
34
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder. 61
33164824 2021
35
A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism. 61
33452333 2021
36
Oxidative phosphorylation in creatine transporter deficiency. 61
32990357 2021
37
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders. 61
33267903 2020
38
Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability. 61
33334757 2020
39
Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder. 61
33093139 2020
40
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. 61
33211814 2020
41
Cyclocreatine treatment ameliorates the cognitive, autistic and epileptic phenotype in a mouse model of Creatine Transporter Deficiency. 61
33110151 2020
42
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes. 61
32337850 2020
43
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome. 61
33192443 2020
44
Novel translational phenotypes and biomarkers for creatine transporter deficiency. 61
32954336 2020
45
Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts. 61
31859463 2019
46
Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome. 61
30885608 2019
47
Facile High-Performance Liquid Chromatography Mass Spectrometry Method for Analysis of Cyclocreatine and Phosphocyclocreatine in Complex Mixtures of Amino Acids. 61
31194545 2019
48
Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency. 61
31038003 2019
49
Early Indicators of Creatine Transporter Deficiency. 61
30579583 2019
50
A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study. 61
30635645 2019

Variations for Cerebral Creatine Deficiency Syndrome 1

ClinVar genetic disease variations for Cerebral Creatine Deficiency Syndrome 1:

6 (show top 50) (show all 206)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC6A8 NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) SNV Pathogenic 11696 rs122453113 GRCh37: X:152960032-152960032
GRCh38: X:153694577-153694577
2 SLC6A8 NM_005629.4(SLC6A8):c.1141G>C (p.Gly381Arg) SNV Pathogenic 11697 rs122453114 GRCh37: X:152959041-152959041
GRCh38: X:153693586-153693586
3 SLC6A8 NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter) Duplication Pathogenic 11699 rs1569539359 GRCh37: X:152958754-152958755
GRCh38: X:153693299-153693300
4 SLC6A8 NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) SNV Pathogenic 11700 rs122453115 GRCh37: X:152954288-152954288
GRCh38: X:153688833-153688833
5 SLC6A8 NM_005629.4(SLC6A8):c.263-2A>G SNV Pathogenic 11701 rs1569539244 GRCh37: X:152955828-152955828
GRCh38: X:153690373-153690373
6 SLC6A8 NM_005629.4(SLC6A8):c.1011C>G (p.Cys337Trp) SNV Pathogenic 11702 rs122453116 GRCh37: X:152958816-152958816
GRCh38: X:153693361-153693361
7 SLC6A8 NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val) SNV Pathogenic 11703 rs122453117 GRCh37: X:152956759-152956759
GRCh38: X:153691304-153691304
8 SLC6A8 NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp) SNV Pathogenic 11704 rs122453118 GRCh37: X:152959879-152959879
GRCh38: X:153694424-153694424
9 SLC6A8 NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) SNV Pathogenic 65692 rs397515558 GRCh37: X:152960208-152960208
GRCh38: X:153694753-153694753
10 SLC6A8 NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) SNV Pathogenic 65693 rs397515559 GRCh37: X:152960238-152960238
GRCh38: X:153694783-153694783
11 SLC6A8 NM_005629.4(SLC6A8):c.972_973CA[1] (p.Thr325fs) Microsatellite Pathogenic 410218 rs1060502808 GRCh37: X:152958777-152958778
GRCh38: X:153693322-153693323
12 SLC6A8 NM_005629.4(SLC6A8):c.1583del (p.Pro528fs) Deletion Pathogenic 436772 rs1557045581 GRCh37: X:152960072-152960072
GRCh38: X:153694617-153694617
13 SLC6A8 NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) SNV Pathogenic 465141 rs1557045267 GRCh37: X:152959389-152959389
GRCh38: X:153693934-153693934
14 SLC6A8 NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs) Indel Pathogenic 533702 rs1557043770 GRCh37: X:152954082-152954166
GRCh38: X:153688627-153688711
15 SLC6A8 NM_005629.4(SLC6A8):c.1455G>A (p.Trp485Ter) SNV Pathogenic 579906 rs1569539443 GRCh37: X:152959861-152959861
GRCh38: X:153694406-153694406
16 SLC6A8 NM_005629.4(SLC6A8):c.1659C>G (p.Tyr553Ter) SNV Pathogenic 580873 rs1569539466 GRCh37: X:152960236-152960236
GRCh38: X:153694781-153694781
17 SLC6A8 NM_005629.4(SLC6A8):c.1104dup (p.Glu369fs) Duplication Pathogenic 581613 rs1569539381 GRCh37: X:152959003-152959004
GRCh38: X:153693548-153693549
18 SLC6A8 NM_005629.4(SLC6A8):c.1429_1430delinsAG (p.Ser477Arg) Indel Pathogenic 627560 rs1569539437 GRCh37: X:152959835-152959836
GRCh38: X:153694380-153694381
19 SLC6A8 NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) Deletion Pathogenic 635461 rs1603215223 GRCh37: X:152956990-152956991
GRCh38: X:153691535-153691536
20 SLC6A8 NM_005629.4(SLC6A8):c.457dup (p.Ala153fs) Duplication Pathogenic 651752 rs1603215013 GRCh37: X:152956819-152956820
GRCh38: X:153691364-153691365
21 SLC6A8 NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr) SNV Pathogenic 666596 rs1603217815 GRCh37: X:152960280-152960280
GRCh38: X:153694825-153694825
22 SLC6A8 NM_005629.4(SLC6A8):c.1142-2A>C SNV Pathogenic 691273 rs1603217176 GRCh37: X:152959358-152959358
GRCh38: X:153693903-153693903
23 SLC6A8 NM_005629.4(SLC6A8):c.1428C>A (p.Tyr476Ter) SNV Pathogenic 663194 rs1239466041 GRCh37: X:152959834-152959834
GRCh38: X:153694379-153694379
24 SLC6A8 NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg) SNV Pathogenic 804101 rs1603217473 GRCh37: X:152959802-152959802
GRCh38: X:153694347-153694347
25 SLC6A8 NM_005629.4(SLC6A8):c.1494C>G (p.Tyr498Ter) SNV Pathogenic 827674 rs143916832 GRCh37: X:152959900-152959900
GRCh38: X:153694445-153694445
26 SLC6A8 NC_000023.11:g.(?_153688555)_(153688856_?)del Deletion Pathogenic 830977 GRCh37: X:152954010-152954311
GRCh38:
27 SLC6A8 NM_005629.4(SLC6A8):c.699G>A (p.Trp233Ter) SNV Pathogenic 859894 GRCh37: X:152957484-152957484
GRCh38: X:153692029-153692029
28 SLC6A8 NM_005629.4(SLC6A8):c.418_421dup (p.Val141fs) Duplication Pathogenic 944247 GRCh37: X:152956780-152956781
GRCh38: X:153691325-153691326
29 SLC6A8 NM_005629.4(SLC6A8):c.940_944TTCTT[1] (p.Phe315fs) Microsatellite Pathogenic 633583 rs1603216806 GRCh37: X:152958743-152958747
GRCh38: X:153693288-153693292
30 SLC6A8 NM_005629.4(SLC6A8):c.1040_1044delinsAAGA (p.Ile347fs) Indel Pathogenic 966448 GRCh37: X:152958940-152958944
GRCh38: X:153693485-153693489
31 SLC6A8 NM_005629.4(SLC6A8):c.1626C>A (p.Tyr542Ter) SNV Pathogenic 975971 GRCh37: X:152960203-152960203
GRCh38: X:153694748-153694748
32 SLC6A8 NM_005629.4(SLC6A8):c.942_944del (p.Phe315del) Deletion Pathogenic 983532 GRCh37: X:152958745-152958747
GRCh38: X:153693290-153693292
33 SLC6A8 NM_005629.4(SLC6A8):c.1216_1218TTC[2] (p.Phe408del) Microsatellite Pathogenic 11698 rs80338740 GRCh37: X:152959434-152959436
GRCh38: X:153693979-153693981
34 SLC6A8 NM_005629.4(SLC6A8):c.1000_1002AAC[2] (p.Asn336del) Microsatellite Pathogenic 265402 rs782433037 GRCh37: X:152958804-152958806
GRCh38: X:153693349-153693351
35 SLC6A8 NM_005629.4(SLC6A8):c.318_320CTT[1] (p.Phe107del) Microsatellite Pathogenic 21448 rs80338739 GRCh37: X:152955883-152955885
GRCh38: X:153690428-153690430
36 SLC6A8 NM_005629.4(SLC6A8):c.1394_1399del (p.Gly465_Met467delinsVal) Deletion Pathogenic 1064525 GRCh37: X:152959800-152959805
GRCh38: X:153694345-153694350
37 SLC6A8 NM_005629.3:c.1488_1899del Deletion Likely pathogenic 974583 GRCh37:
GRCh38:
38 SLC6A8 NM_005629.4(SLC6A8):c.1255-35_1272del Deletion Likely pathogenic 974831 GRCh37: X:152959541-152959593
GRCh38: X:153694086-153694138
39 SLC6A8 NM_005629.4(SLC6A8):c.912+2T>G SNV Likely pathogenic 954472 GRCh37: X:152958632-152958632
GRCh38: X:153693177-153693177
40 SLC6A8 NM_005629.4(SLC6A8):c.342G>C (p.Gln114His) SNV Likely pathogenic 940774 GRCh37: X:152955909-152955909
GRCh38: X:153690454-153690454
41 SLC6A8 NC_000023.11:g.153694343del Deletion Likely pathogenic 666588 rs1603217468 GRCh37: X:152959798-152959798
GRCh38: X:153694343-153694343
42 SLC6A8 NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) SNV Conflicting interpretations of pathogenicity 572616 rs868950793 GRCh37: X:152954121-152954121
GRCh38: X:153688666-153688666
43 SLC6A8 NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) SNV Conflicting interpretations of pathogenicity 533700 rs1557045250 GRCh37: X:152959363-152959363
GRCh38: X:153693908-153693908
44 SLC6A8 NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=) SNV Uncertain significance 804100 rs1603216989 GRCh37: X:152958968-152958968
GRCh38: X:153693513-153693513
45 SLC6A8 NM_005629.4(SLC6A8):c.1767+9C>G SNV Uncertain significance 931328 GRCh37: X:152960353-152960353
GRCh38: X:153694898-153694898
46 SLC6A8 NM_005629.4(SLC6A8):c.25G>T (p.Gly9Cys) SNV Uncertain significance 934136 GRCh37: X:152954054-152954054
GRCh38: X:153688599-153688599
47 SLC6A8 NM_005629.4(SLC6A8):c.644A>G (p.Glu215Gly) SNV Uncertain significance 984715 GRCh37: X:152957008-152957008
GRCh38: X:153691553-153691553
48 SLC6A8 NM_005629.4(SLC6A8):c.1009T>C (p.Cys337Arg) SNV Uncertain significance 999198 GRCh37: X:152958814-152958814
GRCh38: X:153693359-153693359
49 SLC6A8 NM_005629.4(SLC6A8):c.620G>A (p.Arg207Gln) SNV Uncertain significance 1002907 GRCh37: X:152956984-152956984
GRCh38: X:153691529-153691529
50 SLC6A8 NM_005629.4(SLC6A8):c.1172G>A (p.Arg391Gln) SNV Uncertain significance 449186 rs782676733 GRCh37: X:152959390-152959390
GRCh38: X:153693935-153693935

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

72 (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 rs155704526

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
10.87 GATM GAMT
2
Show member pathways
10.56 GATM GAMT CKMT1B
3
Show member pathways
10.34 GATM GAMT

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 cation transport GO:0006812 9.46 SLC9A7 SLC9A6
2 anion transmembrane transport GO:0098656 9.43 SLC9A7 SLC9A6
3 sodium ion transport GO:0006814 9.43 SLC9A7 SLC9A6 SLC6A8
4 regulation of intracellular pH GO:0051453 9.4 SLC9A7 SLC9A6
5 sodium ion import across plasma membrane GO:0098719 9.37 SLC9A7 SLC9A6
6 sodium ion transmembrane transport GO:0035725 9.33 SLC9A7 SLC9A6 SLC6A8
7 regulation of pH GO:0006885 9.32 SLC9A7 SLC9A6
8 creatine biosynthetic process GO:0006601 8.96 GATM GAMT
9 creatine metabolic process GO:0006600 8.92 SLC6A8 GATM GAMT CKMT1B

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

# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 9.26 SLC9A7 SLC9A6
2 solute:proton antiporter activity GO:0015299 9.16 SLC9A7 SLC9A6
3 sodium:proton antiporter activity GO:0015385 8.96 SLC9A7 SLC9A6
4 potassium:proton antiporter activity GO:0015386 8.62 SLC9A7 SLC9A6

Sources for Cerebral Creatine Deficiency Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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