CCDS1
MCID: CRB151
MIFTS: 51

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 58 12 76
X-Linked Creatine Deficiency Syndrome 54 26 76 38
Creatine Transporter Deficiency 12 26 60 15
Creatine Deficiency, X-Linked 54 30 6 74
Creatine Transporter Defect 58 26 76
Slc6a8 Deficiency 12 26 60
X-Linked Creatine Transporter Deficiency 54 60
Creatine Deficiency Syndrome, X-Linked 58 13
X-Linked Creatine Deficiency 54 26
Ccds1 58 76
Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia 58
Mental Retardation , X-Linked with Seizures, Short Stature and Midface Hypoplasia 54
X-Linked Mental Retardation with Seizures, Short Stature, and Midface Hypoplasia 76
Mental Retardation , X-Linked, with Creatine Transport Deficiency 54
Mental Retardation, X-Linked, with Creatine Transport Deficiency 58
X-Linked Mental Retardation with Creatine Transport Deficiency 76
Deficiency, Cerebral Creatine, Syndrome, Type 1 ) 41
Slc6a8-Related Creatine Transporter Deficiency 26

Characteristics:

Orphanet epidemiological data:

60
x-linked creatine transporter deficiency
Inheritance: Not applicable,X-linked recessive; Age of onset: Childhood,Infancy; Age of death: adult;

OMIM:

58
Miscellaneous:
onset in first months of life
carrier females may show neuropsychologic impairment

Inheritance:
x-linked recessive


HPO:

33
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 : 54 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 x-linked creatine deficiency syndrome, 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 Arginine and proline metabolism and NRF2 pathway. The drugs Fluorouracil and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin, and related phenotypes are intellectual disability and seizures

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.

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 Creatine Transporter Deficiency(CTD) is an inborn error of creatine metabolism in which creatine is not... more...

Related Diseases for Cerebral Creatine Deficiency Syndrome 1

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:

60 33 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
5 abnormal circulating creatine concentration 33 hallmark (90%) HP:0012113
6 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
7 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
8 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
9 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
10 chorea 60 33 frequent (33%) Frequent (79-30%) HP:0002072
11 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
12 hypertonia 60 33 frequent (33%) Frequent (79-30%) HP:0001276
13 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
14 cachexia 60 33 frequent (33%) Frequent (79-30%) HP:0004326
15 aganglionic megacolon 60 33 frequent (33%) Frequent (79-30%) HP:0002251
16 ileus 60 33 frequent (33%) Frequent (79-30%) HP:0002595
17 open mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000194
18 autistic behavior 60 33 frequent (33%) Frequent (79-30%) HP:0000729
19 hyperactivity 60 33 frequent (33%) Frequent (79-30%) HP:0000752
20 athetosis 60 33 frequent (33%) Frequent (79-30%) HP:0002305
21 self-mutilation 60 33 frequent (33%) Frequent (79-30%) HP:0000742
22 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
23 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
24 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
25 mask-like facies 60 33 occasional (7.5%) Occasional (29-5%) HP:0000298
26 redundant skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0001582
27 spasticity 33 HP:0001257
28 gait disturbance 33 HP:0001288
29 failure to thrive 33 HP:0001508
30 mandibular prognathia 33 HP:0000303
31 neonatal hypotonia 33 HP:0001319
32 feeding difficulties in infancy 33 HP:0008872
33 stereotypy 33 HP:0000733
34 vomiting 33 HP:0002013
35 abnormality of metabolism/homeostasis 33 HP:0001939
36 attention deficit hyperactivity disorder 33 HP:0007018
37 pes cavus 33 HP:0001761
38 motor delay 33 HP:0001270
39 broad forehead 33 HP:0000337
40 impaired social interactions 33 HP:0000735
41 aggressive behavior 33 HP:0000718
42 narrow face 33 HP:0000275
43 joint hypermobility 33 HP:0001382
44 long face 33 HP:0000276
45 midface retrusion 33 HP:0011800
46 tall stature 33 HP:0000098
47 myopathic facies 33 HP:0002058
48 generalized hypotonia 33 HP:0001290
49 hypoplasia of the corpus callosum 33 HP:0002079
50 exotropia 33 HP:0000577

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Cerebral Creatine Deficiency Syndrome 1:


seizures, constipation, vomiting, muscle spasticity

MGI Mouse Phenotypes related to Cerebral Creatine Deficiency Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 CANX FABP3 GAMT GATM HAPLN1 SLC6A3
2 growth/size/body region MP:0005378 9.5 CANX GAMT GATM HAPLN1 SLC6A3 SLC6A5
3 muscle MP:0005369 9.02 FABP3 GATM SLC6A3 SLC6A5 SLC6A8

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome 1

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 2 51-21-8 3385
2
Cisplatin Approved Phase 2 15663-27-1 2767 441203 84093
3
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
4 Antimitotic Agents Phase 2
5
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
6
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
7 arginine

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 (BioCDS) Recruiting 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 30 SLC6A8

Anatomical Context for Cerebral Creatine Deficiency Syndrome 1

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

42
Brain, Heart, Skin, Eye

Publications for Cerebral Creatine Deficiency Syndrome 1

Articles related to Cerebral Creatine Deficiency Syndrome 1:

# Title Authors Year
1
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation. ( 17603797 )
2007
2
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. ( 17101918 )
2006
3
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. ( 16738945 )
2006
4
X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation. ( 16086185 )
2005
5
High prevalence of SLC6A8 deficiency in X-linked mental retardation. ( 15154114 )
2004
6
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. ( 12210795 )
2002
7
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. ( 11898126 )
2002
8
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. ( 11326334 )
2001

Variations for Cerebral Creatine Deficiency Syndrome 1

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

76 (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 175)
# 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 NM_005629.4(SLC6A8): c.950dup (p.Tyr317Terfs) duplication Pathogenic GRCh38 Chromosome X, 153693300: 153693300
8 SLC6A8 NM_005629.4(SLC6A8): c.950dup (p.Tyr317Terfs) duplication Pathogenic GRCh37 Chromosome X, 152958755: 152958755
9 SLC6A8 NM_005629.3(SLC6A8): c.259G> A (p.Gly87Arg) single nucleotide variant Pathogenic rs122453115 GRCh37 Chromosome X, 152954288: 152954288
10 SLC6A8 NM_005629.3(SLC6A8): c.259G> A (p.Gly87Arg) single nucleotide variant Pathogenic rs122453115 GRCh38 Chromosome X, 153688833: 153688833
11 SLC6A8 NM_005629.4(SLC6A8): c.263-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome X, 152955828: 152955828
12 SLC6A8 NM_005629.4(SLC6A8): c.263-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome X, 153690373: 153690373
13 SLC6A8 NM_005629.3(SLC6A8): c.1011C> G (p.Cys337Trp) single nucleotide variant Pathogenic rs122453116 GRCh37 Chromosome X, 152958816: 152958816
14 SLC6A8 NM_005629.3(SLC6A8): c.1011C> G (p.Cys337Trp) single nucleotide variant Pathogenic rs122453116 GRCh38 Chromosome X, 153693361: 153693361
15 SLC6A8 NM_005629.3(SLC6A8): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic rs122453117 GRCh37 Chromosome X, 152956759: 152956759
16 SLC6A8 NM_005629.3(SLC6A8): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic rs122453117 GRCh38 Chromosome X, 153691304: 153691304
17 SLC6A8 NM_005629.3(SLC6A8): c.1473C> G (p.Cys491Trp) single nucleotide variant Pathogenic rs122453118 GRCh37 Chromosome X, 152959879: 152959879
18 SLC6A8 NM_005629.3(SLC6A8): c.1473C> G (p.Cys491Trp) single nucleotide variant Pathogenic rs122453118 GRCh38 Chromosome X, 153694424: 153694424
19 SLC6A8 SLC6A8, 3-BP DEL, 1006AAC deletion Pathogenic
20 SLC6A8 NM_005629.3(SLC6A8): c.321_323delCTT (p.Phe107del) deletion Pathogenic/Likely pathogenic rs80338739 GRCh37 Chromosome X, 152955888: 152955890
21 SLC6A8 NM_005629.3(SLC6A8): c.321_323delCTT (p.Phe107del) deletion Pathogenic/Likely pathogenic rs80338739 GRCh38 Chromosome X, 153690433: 153690435
22 SLC6A8 NM_005629.3(SLC6A8): c.1631C> T (p.Pro544Leu) single nucleotide variant Pathogenic rs397515558 GRCh37 Chromosome X, 152960208: 152960208
23 SLC6A8 NM_005629.3(SLC6A8): c.1631C> T (p.Pro544Leu) single nucleotide variant Pathogenic rs397515558 GRCh38 Chromosome X, 153694753: 153694753
24 SLC6A8 NM_005629.3(SLC6A8): c.1661C> T (p.Pro554Leu) single nucleotide variant Pathogenic rs397515559 GRCh37 Chromosome X, 152960238: 152960238
25 SLC6A8 NM_005629.3(SLC6A8): c.1661C> T (p.Pro554Leu) single nucleotide variant Pathogenic rs397515559 GRCh38 Chromosome X, 153694783: 153694783
26 SLC6A8 NM_005629.3(SLC6A8): c.-5A> G single nucleotide variant Benign rs384573 GRCh38 Chromosome X, 153688570: 153688570
27 SLC6A8 NM_005629.3(SLC6A8): c.-5A> G single nucleotide variant Benign rs384573 GRCh37 Chromosome X, 152954025: 152954025
28 SLC6A8 NM_005629.3(SLC6A8): c.87G> A (p.Gly29=) single nucleotide variant Benign/Likely benign rs782373793 GRCh37 Chromosome X, 152954116: 152954116
29 SLC6A8 NM_005629.3(SLC6A8): c.87G> A (p.Gly29=) single nucleotide variant Benign/Likely benign rs782373793 GRCh38 Chromosome X, 153688661: 153688661
30 SLC6A8 NM_005629.3(SLC6A8): c.1437C> T (p.Ser479=) single nucleotide variant Benign/Likely benign rs140115896 GRCh37 Chromosome X, 152959843: 152959843
31 SLC6A8 NM_005629.3(SLC6A8): c.1437C> T (p.Ser479=) single nucleotide variant Benign/Likely benign rs140115896 GRCh38 Chromosome X, 153694388: 153694388
32 SLC6A8 NM_005629.3(SLC6A8): c.1601T> C (p.Ile534Thr) single nucleotide variant Likely benign rs797045971 GRCh37 Chromosome X, 152960178: 152960178
33 SLC6A8 NM_005629.3(SLC6A8): c.1601T> C (p.Ile534Thr) single nucleotide variant Likely benign rs797045971 GRCh38 Chromosome X, 153694723: 153694723
34 SLC6A8 NM_005629.3(SLC6A8): c.1768-3C> T single nucleotide variant Benign rs150207268 GRCh37 Chromosome X, 152960526: 152960526
35 SLC6A8 NM_005629.3(SLC6A8): c.1768-3C> T single nucleotide variant Benign rs150207268 GRCh38 Chromosome X, 153695071: 153695071
36 SLC6A8 NM_005629.3(SLC6A8): c.1890G> C (p.Val630=) single nucleotide variant Benign/Likely benign rs376385129 GRCh38 Chromosome X, 153695196: 153695196
37 SLC6A8 NM_005629.3(SLC6A8): c.1890G> C (p.Val630=) single nucleotide variant Benign/Likely benign rs376385129 GRCh37 Chromosome X, 152960651: 152960651
38 SLC6A8 NM_005629.3(SLC6A8): c.1649C> G (p.Thr550Ser) single nucleotide variant Benign/Likely benign rs199635059 GRCh38 Chromosome X, 153694771: 153694771
39 SLC6A8 NM_005629.3(SLC6A8): c.1649C> G (p.Thr550Ser) single nucleotide variant Benign/Likely benign rs199635059 GRCh37 Chromosome X, 152960226: 152960226
40 SLC6A8 NM_005629.3(SLC6A8): c.1496-8C> T single nucleotide variant Benign rs376038235 GRCh37 Chromosome X, 152959980: 152959980
41 SLC6A8 NM_005629.3(SLC6A8): c.1496-8C> T single nucleotide variant Benign rs376038235 GRCh38 Chromosome X, 153694525: 153694525
42 SLC6A8 NM_005629.3(SLC6A8): c.1494C> T (p.Tyr498=) single nucleotide variant Benign/Likely benign rs143916832 GRCh37 Chromosome X, 152959900: 152959900
43 SLC6A8 NM_005629.3(SLC6A8): c.1494C> T (p.Tyr498=) single nucleotide variant Benign/Likely benign rs143916832 GRCh38 Chromosome X, 153694445: 153694445
44 SLC6A8 NM_005629.3(SLC6A8): c.780C> T (p.Ile260=) single nucleotide variant Benign/Likely benign rs148232368 GRCh37 Chromosome X, 152958498: 152958498
45 SLC6A8 NM_005629.3(SLC6A8): c.780C> T (p.Ile260=) single nucleotide variant Benign/Likely benign rs148232368 GRCh38 Chromosome X, 153693043: 153693043
46 SLC6A8 NM_005629.3(SLC6A8): c.813C> T (p.Val271=) single nucleotide variant Benign/Likely benign rs138064933 GRCh37 Chromosome X, 152958531: 152958531
47 SLC6A8 NM_005629.3(SLC6A8): c.813C> T (p.Val271=) single nucleotide variant Benign/Likely benign rs138064933 GRCh38 Chromosome X, 153693076: 153693076
48 SLC6A8 NM_005629.3(SLC6A8): c.912+9G> A single nucleotide variant Benign/Likely benign rs782694291 GRCh37 Chromosome X, 152958639: 152958639
49 SLC6A8 NM_005629.3(SLC6A8): c.912+9G> A single nucleotide variant Benign/Likely benign rs782694291 GRCh38 Chromosome X, 153693184: 153693184
50 SLC6A8 NM_005629.3(SLC6A8): c.644+8C> T single nucleotide variant Likely benign rs782433720 GRCh37 Chromosome X, 152957016: 152957016

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
11.01 GAMT GATM
2 10.96 SLC6A3 SLC6A5 SLC6A8
3
Show member pathways
10.87 GAMT GATM
4
Show member pathways
10.34 GAMT GATM

GO Terms for Cerebral Creatine Deficiency Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 integral component of presynaptic membrane GO:0099056 9.16 SLC6A3 SLC6A5
2 integral component of postsynaptic membrane GO:0099055 8.96 CANX SLC6A3
3 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.62 BCAP31 CANX

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

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter transport GO:0006836 9.33 SLC6A3 SLC6A5 SLC6A8
2 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.26 BCAP31 CANX
3 creatine biosynthetic process GO:0006601 8.96 GAMT GATM
4 creatine metabolic process GO:0006600 8.8 GAMT GATM SLC6A8

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

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter:sodium symporter activity GO:0005328 8.96 SLC6A3 SLC6A8
2 symporter activity GO:0015293 8.8 SLC6A3 SLC6A5 SLC6A8

Sources for Cerebral Creatine Deficiency Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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