CCDS2
MCID: CRB150
MIFTS: 45

Cerebral Creatine Deficiency Syndrome 2 (CCDS2)

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

Aliases & Classifications for Cerebral Creatine Deficiency Syndrome 2

MalaCards integrated aliases for Cerebral Creatine Deficiency Syndrome 2:

Name: Cerebral Creatine Deficiency Syndrome 2 58 12 54 76
Guanidinoacetate Methyltransferase Deficiency 58 12 77 54 26 60 76 38 45 15 74
Gamt Deficiency 58 12 54 26 60 76 13
Creatine Deficiency Syndrome Due to Gamt Deficiency 58 26 76
Deficiency of Guanidinoacetate Methyltransferase 26 30 6
Language Development Disorders 45 74
Ccds2 58 76
Deficiency, Cerebral Creatine, Syndrome, Type 2 ) 41
Guanidinoacetate Methyltransferase 13

Characteristics:

Orphanet epidemiological data:

60
guanidinoacetate methyltransferase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: young Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
clinical and biochemical symptoms improved with oral administration of creatine monohydrate


HPO:

33
cerebral creatine deficiency syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050799
OMIM 58 612736
KEGG 38 H00834
MESH via Orphanet 46 C537622
ICD10 via Orphanet 35 E72.8
UMLS via Orphanet 75 C0574080
Orphanet 60 ORPHA382
MedGen 43 C0574080

Summaries for Cerebral Creatine Deficiency Syndrome 2

NIH Rare Diseases : 54 Guanidinoacetate methyltransferase (GAMT) deficiency is an inherited disease that affects the brain and muscles. People with this disease may begin showing symptoms from early infancy to age three. Signs and symptoms can vary but may include mild to severe intellectual disability, recurrent seizures (epilepsy), problems with speech, and involuntary movements. People with this disease may also have behavioral problems, including hyperactivity, autistic behaviors, and self-mutilation. GAMT deficiency is caused by changes (mutations) in the GAMT gene. The disease is inherited in an autosomal recessive manner. Diagnosis of the disease may be based on finding increased levels of guanidinoacetate in the urine, and the diagnosis can be confirmed with genetic testing. Treatment for the disease aims to increase the levels of creatine in the brain through supplementation with high doses of oral creatine monohydrate.

MalaCards based summary : Cerebral Creatine Deficiency Syndrome 2, also known as guanidinoacetate methyltransferase deficiency, is related to cerebral creatine deficiency syndrome 1 and striatonigral degeneration, infantile, and has symptoms including ataxia and myoclonus. An important gene associated with Cerebral Creatine Deficiency Syndrome 2 is GAMT (Guanidinoacetate N-Methyltransferase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Arginine and proline metabolism. The drugs Glycine and Creatine have been mentioned in the context of this disorder. Affiliated tissues include brain and testes, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has material basis in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13.

Genetics Home Reference : 26 Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recurrent seizures (epilepsy). Affected individuals may also exhibit autistic behaviors that affect communication and social interaction or self-injurious behaviors such as head-banging. Other features of this disorder can include involuntary movements (extrapyramidal dysfunction) such as tremors or facial tics.

OMIM : 58 Guanidinoacetate methyltransferase deficiency, an autosomal recessive inborn error of creatine synthesis, is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids (summary by Schulze, 2003). For a general phenotypic description and a discussion of genetic heterogeneity of CCDS, see CCDS1 (300352). (612736)

UniProtKB/Swiss-Prot : 76 Cerebral creatine deficiency syndrome 2: An autosomal recessive disorder characterized by developmental delay and regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids.

Wikipedia : 77 Guanidinoacetate methyltransferase deficiency (GAMT deficiency), is an autosomal recessivecerebral... more...

Related Diseases for Cerebral Creatine Deficiency Syndrome 2

Graphical network of the top 20 diseases related to Cerebral Creatine Deficiency Syndrome 2:



Diseases related to Cerebral Creatine Deficiency Syndrome 2

Symptoms & Phenotypes for Cerebral Creatine Deficiency Syndrome 2

Human phenotypes related to Cerebral Creatine Deficiency Syndrome 2:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 ataxia 33 HP:0001251
4 hyperreflexia 33 HP:0001347
5 global developmental delay 33 HP:0001263
6 delayed speech and language development 33 HP:0000750
7 hypertonia 33 HP:0001276
8 myoclonus 33 HP:0001336
9 progressive extrapyramidal movement disorder 33 HP:0007153
10 infantile muscular hypotonia 33 HP:0008947
11 reduced brain creatine level by mrs 33 HP:0025051

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
progressive extrapyramidal movement disorder
mental retardation
myoclonic jerks
increased deep tendon reflexes
more
Laboratory Abnormalities:
extremely low creatine excretion
low csf creatine
low csf creatinine
deficiency of creatine phosphate in brain
accumulation of guanidinoacetate in brain
more
Muscle Soft Tissue:
hypotonia in infancy

Clinical features from OMIM:

612736

UMLS symptoms related to Cerebral Creatine Deficiency Syndrome 2:


ataxia, myoclonus

MGI Mouse Phenotypes related to Cerebral Creatine Deficiency Syndrome 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 GAMT GATM HAPLN1 OAT SLC6A6 SLC6A8
2 mortality/aging MP:0010768 9.17 ARG1 CS DDX21 GAMT GATM HAPLN1

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome 2

Drugs for Cerebral Creatine Deficiency Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
2
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
3 arginine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Creatine Deficiency Syndromes (BioCDS) Recruiting NCT02934854

Search NIH Clinical Center for Cerebral Creatine Deficiency Syndrome 2

Cochrane evidence based reviews: language development disorders

Genetic Tests for Cerebral Creatine Deficiency Syndrome 2

Genetic tests related to Cerebral Creatine Deficiency Syndrome 2:

# Genetic test Affiliating Genes
1 Deficiency of Guanidinoacetate Methyltransferase 30 GAMT

Anatomical Context for Cerebral Creatine Deficiency Syndrome 2

MalaCards organs/tissues related to Cerebral Creatine Deficiency Syndrome 2:

42
Brain, Testes

Publications for Cerebral Creatine Deficiency Syndrome 2

Articles related to Cerebral Creatine Deficiency Syndrome 2:

(show all 35)
# Title Authors Year
1
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. ( 29506905 )
2018
2
First reported Chinese case of guanidinoacetate methyltransferase deficiency in a 4-year-old child. ( 28438604 )
2017
3
A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene. ( 26319512 )
2016
4
Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI. ( 27650626 )
2016
5
Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development. ( 25896543 )
2015
6
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene. ( 26003046 )
2015
7
A Japanese adult case of guanidinoacetate methyltransferase deficiency. ( 23846910 )
2014
8
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. ( 24415674 )
2014
9
Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate. ( 24766785 )
2014
10
Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency. ( 24165373 )
2013
11
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease. ( 23031365 )
2012
12
Guanidinoacetate methyltransferase deficiency (GAMT). ( 19289269 )
2010
13
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy. ( 17171576 )
2007
14
Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency. ( 17641269 )
2007
15
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. ( 17101918 )
2006
16
Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: increased guanidinoacetate concentrations in amniotic fluid. ( 16595836 )
2006
17
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. ( 16924036 )
2006
18
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. ( 15651030 )
2005
19
Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency. ( 16054853 )
2005
20
Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency. ( 14752017 )
2004
21
Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle. ( 15234333 )
2004
22
Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. ( 11978605 )
2002
23
Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency. ( 11393723 )
2001
24
Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. ( 11749046 )
2001
25
Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency. ( 10896298 )
2000
26
Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation). ( 11087795 )
2000
27
Two new severe mutations causing guanidinoacetate methyltransferase deficiency. ( 11136556 )
2000
28
An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. ( 9919967 )
1998
29
Guanidinoacetate methyltransferase deficiency: a newly recognized inborn error of creatine biosynthesis. ( 9060147 )
1997
30
Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. ( 9322805 )
1997
31
Guanidinoacetate methyltransferase deficiency: new clinical features. ( 9367297 )
1997
32
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. ( 9386672 )
1997
33
Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. ( 8651275 )
1996
34
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. ( 8813986 )
1996
35
Sakaguchi reaction: a useful method for screening guanidinoacetate-methyltransferase deficiency. ( 8892034 )
1996

Variations for Cerebral Creatine Deficiency Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Cerebral Creatine Deficiency Syndrome 2:

76 (show all 18)
# Symbol AA change Variation ID SNP ID
1 GAMT p.Trp20Ser VAR_058102 rs80338734
2 GAMT p.Met50Leu VAR_058103 rs104894694
3 GAMT p.His51Pro VAR_058104
4 GAMT p.Ala54Pro VAR_058105 rs122016990
5 GAMT p.Cys169Tyr VAR_058106 rs121909272
6 GAMT p.Leu197Pro VAR_058107
7 GAMT p.Trp45Arg VAR_071777 rs886054247
8 GAMT p.Gly68Cys VAR_071778 rs144766558
9 GAMT p.Ala75Val VAR_071779 rs144103018
10 GAMT p.Val78Glu VAR_071780
11 GAMT p.Val110Phe VAR_071781 rs753198836
12 GAMT p.Asp135Asn VAR_071782 rs774144200
13 GAMT p.His147Tyr VAR_071783 rs137149655
14 GAMT p.Leu159Pro VAR_071784
15 GAMT p.Gly164Asp VAR_071785 rs760101382
16 GAMT p.Leu166Pro VAR_071786 rs148314818
17 GAMT p.Cys169Arg VAR_071787
18 GAMT p.Arg208Pro VAR_071788 rs767887772

ClinVar genetic disease variations for Cerebral Creatine Deficiency Syndrome 2:

6 (show top 50) (show all 71)
# Gene Variation Type Significance SNP ID Assembly Location
1 GAMT GAMT, IVS2DS, G-A, -1 single nucleotide variant Pathogenic
2 GAMT NM_000156.5(GAMT): c.297_309dup (p.Arg105Glyfs) duplication Pathogenic rs80338736 GRCh37 Chromosome 19, 1399810: 1399822
3 GAMT NM_000156.5(GAMT): c.297_309dup (p.Arg105Glyfs) duplication Pathogenic rs80338736 GRCh38 Chromosome 19, 1399811: 1399823
4 GAMT NM_000156.5(GAMT): c.59G> C (p.Trp20Ser) single nucleotide variant Pathogenic rs80338734 GRCh37 Chromosome 19, 1401417: 1401417
5 GAMT NM_000156.5(GAMT): c.59G> C (p.Trp20Ser) single nucleotide variant Pathogenic rs80338734 GRCh38 Chromosome 19, 1401418: 1401418
6 GAMT NM_000156.5(GAMT): c.506G> A (p.Cys169Tyr) single nucleotide variant Pathogenic rs121909272 GRCh37 Chromosome 19, 1398979: 1398979
7 GAMT NM_000156.5(GAMT): c.506G> A (p.Cys169Tyr) single nucleotide variant Pathogenic rs121909272 GRCh38 Chromosome 19, 1398980: 1398980
8 GAMT NM_000156.5(GAMT): c.148A> C (p.Met50Leu) single nucleotide variant Pathogenic rs104894694 GRCh37 Chromosome 19, 1401328: 1401328
9 GAMT NM_000156.5(GAMT): c.148A> C (p.Met50Leu) single nucleotide variant Pathogenic rs104894694 GRCh38 Chromosome 19, 1401329: 1401329
10 GAMT NM_000156.5(GAMT): c.327G> A (p.Lys109=) single nucleotide variant Pathogenic rs80338735 GRCh37 Chromosome 19, 1399792: 1399792
11 GAMT NM_000156.5(GAMT): c.327G> A (p.Lys109=) single nucleotide variant Pathogenic rs80338735 GRCh38 Chromosome 19, 1399793: 1399793
12 GAMT NM_000156.5(GAMT): c.438A> G (p.Thr146=) single nucleotide variant Benign rs80338733 GRCh37 Chromosome 19, 1399148: 1399148
13 GAMT NM_000156.5(GAMT): c.438A> G (p.Thr146=) single nucleotide variant Benign rs80338733 GRCh38 Chromosome 19, 1399149: 1399149
14 GAMT NM_000156.5(GAMT): c.460-31G> A single nucleotide variant Benign rs55776826 GRCh37 Chromosome 19, 1399056: 1399056
15 GAMT NM_000156.5(GAMT): c.460-31G> A single nucleotide variant Benign rs55776826 GRCh38 Chromosome 19, 1399057: 1399057
16 GAMT; NDUFS7 NM_000156.5(GAMT): c.626C> T (p.Thr209Met) single nucleotide variant Benign/Likely benign rs17851582 GRCh37 Chromosome 19, 1397443: 1397443
17 GAMT; NDUFS7 NM_000156.5(GAMT): c.626C> T (p.Thr209Met) single nucleotide variant Benign/Likely benign rs17851582 GRCh38 Chromosome 19, 1397444: 1397444
18 GAMT; NDUFS7 NM_000156.5(GAMT): c.571-6G> A single nucleotide variant Benign/Likely benign rs2074899 GRCh37 Chromosome 19, 1397504: 1397504
19 GAMT; NDUFS7 NM_000156.5(GAMT): c.571-6G> A single nucleotide variant Benign/Likely benign rs2074899 GRCh38 Chromosome 19, 1397505: 1397505
20 GAMT NM_000156.5(GAMT): c.348G> A (p.Leu116=) single nucleotide variant Benign/Likely benign rs117884619 GRCh38 Chromosome 19, 1399567: 1399567
21 GAMT NM_000156.5(GAMT): c.348G> A (p.Leu116=) single nucleotide variant Benign/Likely benign rs117884619 GRCh37 Chromosome 19, 1399566: 1399566
22 GAMT NM_000156.5(GAMT): c.392-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs192416474 GRCh38 Chromosome 19, 1399202: 1399202
23 GAMT NM_000156.5(GAMT): c.392-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs192416474 GRCh37 Chromosome 19, 1399201: 1399201
24 GAMT NM_138924.2(GAMT): c.735G> A (p.Ala245=) single nucleotide variant Benign rs74253480 GRCh38 Chromosome 19, 1398751: 1398751
25 GAMT NM_138924.2(GAMT): c.735G> A (p.Ala245=) single nucleotide variant Benign rs74253480 GRCh37 Chromosome 19, 1398750: 1398750
26 GAMT; NDUFS7 NM_024407.4(NDUFS7): c.*13C> A single nucleotide variant Benign/Likely benign rs11551663 GRCh38 Chromosome 19, 1395501: 1395501
27 GAMT; NDUFS7 NM_024407.4(NDUFS7): c.*13C> A single nucleotide variant Benign/Likely benign rs11551663 GRCh37 Chromosome 19, 1395500: 1395500
28 GAMT NM_000156.5(GAMT): c.227C> T (p.Ser76Leu) single nucleotide variant Uncertain significance rs150338273 GRCh37 Chromosome 19, 1399892: 1399892
29 GAMT NM_000156.5(GAMT): c.227C> T (p.Ser76Leu) single nucleotide variant Uncertain significance rs150338273 GRCh38 Chromosome 19, 1399893: 1399893
30 GAMT NM_000156.5(GAMT): c.*11C> T single nucleotide variant Benign/Likely benign rs149268921 GRCh38 Chromosome 19, 1397348: 1397348
31 GAMT NM_000156.5(GAMT): c.*11C> T single nucleotide variant Benign/Likely benign rs149268921 GRCh37 Chromosome 19, 1397347: 1397347
32 GAMT NM_000156.5(GAMT): c.522G> A (p.Trp174Ter) single nucleotide variant Pathogenic rs370421531 GRCh37 Chromosome 19, 1398963: 1398963
33 GAMT NM_000156.5(GAMT): c.522G> A (p.Trp174Ter) single nucleotide variant Pathogenic rs370421531 GRCh38 Chromosome 19, 1398964: 1398964
34 GAMT NM_000156.5(GAMT): c.7G> A (p.Ala3Thr) single nucleotide variant Uncertain significance rs574164748 GRCh37 Chromosome 19, 1401469: 1401469
35 GAMT NM_000156.5(GAMT): c.7G> A (p.Ala3Thr) single nucleotide variant Uncertain significance rs574164748 GRCh38 Chromosome 19, 1401470: 1401470
36 GAMT NM_000156.5(GAMT): c.419C> A (p.Ser140Ter) single nucleotide variant Likely pathogenic rs747656257 GRCh37 Chromosome 19, 1399167: 1399167
37 GAMT NM_000156.5(GAMT): c.419C> A (p.Ser140Ter) single nucleotide variant Likely pathogenic rs747656257 GRCh38 Chromosome 19, 1399168: 1399168
38 GAMT NM_000156.5(GAMT): c.189G> C (p.Arg63=) single nucleotide variant Conflicting interpretations of pathogenicity rs568392459 GRCh37 Chromosome 19, 1399930: 1399930
39 GAMT NM_000156.5(GAMT): c.189G> C (p.Arg63=) single nucleotide variant Conflicting interpretations of pathogenicity rs568392459 GRCh38 Chromosome 19, 1399931: 1399931
40 GAMT NM_000156.5(GAMT): c.182G> A (p.Gly61Glu) single nucleotide variant Uncertain significance rs77168423 GRCh37 Chromosome 19, 1399937: 1399937
41 GAMT NM_000156.5(GAMT): c.182G> A (p.Gly61Glu) single nucleotide variant Uncertain significance rs77168423 GRCh38 Chromosome 19, 1399938: 1399938
42 GAMT; NDUFS7 NM_000156.5(GAMT): c.*276C> T single nucleotide variant Likely benign rs266810 GRCh37 Chromosome 19, 1397082: 1397082
43 GAMT; NDUFS7 NM_000156.5(GAMT): c.*276C> T single nucleotide variant Likely benign rs266810 GRCh38 Chromosome 19, 1397083: 1397083
44 GAMT NM_000156.5(GAMT): c.396C> A (p.Ile132=) single nucleotide variant Conflicting interpretations of pathogenicity rs200500835 GRCh37 Chromosome 19, 1399190: 1399190
45 GAMT NM_000156.5(GAMT): c.396C> A (p.Ile132=) single nucleotide variant Conflicting interpretations of pathogenicity rs200500835 GRCh38 Chromosome 19, 1399191: 1399191
46 GAMT NM_000156.5(GAMT): c.-78C> T single nucleotide variant Uncertain significance rs886054249 GRCh37 Chromosome 19, 1401553: 1401553
47 GAMT NM_000156.5(GAMT): c.-78C> T single nucleotide variant Uncertain significance rs886054249 GRCh38 Chromosome 19, 1401554: 1401554
48 GAMT NM_000156.5(GAMT): c.419C> T (p.Ser140Leu) single nucleotide variant Uncertain significance rs747656257 GRCh37 Chromosome 19, 1399167: 1399167
49 GAMT NM_000156.5(GAMT): c.419C> T (p.Ser140Leu) single nucleotide variant Uncertain significance rs747656257 GRCh38 Chromosome 19, 1399168: 1399168
50 GAMT NM_000156.5(GAMT): c.328-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371511930 GRCh37 Chromosome 19, 1399596: 1399596

Expression for Cerebral Creatine Deficiency Syndrome 2

Search GEO for disease gene expression data for Cerebral Creatine Deficiency Syndrome 2.

Pathways for Cerebral Creatine Deficiency Syndrome 2

Pathways related to Cerebral Creatine Deficiency Syndrome 2 according to KEGG:

38
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260
2 Arginine and proline metabolism hsa00330

Pathways related to Cerebral Creatine Deficiency Syndrome 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.29 ARG1 CS OAT
2
Show member pathways
11.01 ARG1 GAMT GATM OAT
3
Show member pathways
10.97 GAMT GATM
4
Show member pathways
10.3 ARG1 GAMT GATM OAT

GO Terms for Cerebral Creatine Deficiency Syndrome 2

Biological processes related to Cerebral Creatine Deficiency Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter transport GO:0006836 9.16 SLC6A6 SLC6A8
2 creatine biosynthetic process GO:0006601 8.96 GAMT GATM
3 creatine metabolic process GO:0006600 8.8 GAMT GATM SLC6A8

Molecular functions related to Cerebral Creatine Deficiency Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter:sodium symporter activity GO:0005328 8.62 SLC6A6 SLC6A8

Sources for Cerebral Creatine Deficiency Syndrome 2

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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