CCDS2
MCID: CRB150
MIFTS: 52

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 57 12 53 74
Guanidinoacetate Methyltransferase Deficiency 57 12 75 53 25 59 74 37 44 15 72
Gamt Deficiency 57 12 53 25 59 74 13
Creatine Deficiency Syndrome Due to Gamt Deficiency 57 25 74
Deficiency of Guanidinoacetate Methyltransferase 25 29 6
Language Development Disorders 44 72
Ccds2 57 74
Deficiency, Cerebral Creatine, Syndrome, Type 2 40

Characteristics:

Orphanet epidemiological data:

59
guanidinoacetate methyltransferase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: young Adult;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cerebral creatine deficiency syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050799
KEGG 37 H00834
MESH via Orphanet 45 C537622
ICD10 via Orphanet 34 E72.8
UMLS via Orphanet 73 C0574080
Orphanet 59 ORPHA382
MedGen 42 C0574080
UMLS 72 C0023014 C0574080

Summaries for Cerebral Creatine Deficiency Syndrome 2

NIH Rare Diseases : 53 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 creatine deficiency syndromes, 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 Cerebrolysin and Neuroprotective Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and retina, 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 : 25 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. People with guanidinoacetate methyltransferase deficiency may have weak muscle tone and delayed development of motor skills such as sitting or walking. In severe cases they may lose previously acquired skills such as the ability to support their head or to sit unsupported.

OMIM : 57 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)

KEGG : 37
Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive inborn error of creatine biosynthesis caused by a deficiency of hepatic guanidinoacetate methyltransferase, resulting in a lack of creatine and an accumulation of guanidinoacetic acid, the precursor of creatine. GAMT deficiency is characterized by developmental arrest or delay in the first few months of life with epilepsy and extrapyramidal movements as common features. Neurologic signs and symptoms are variable, and autistic spectrum disorders are sometimes seen in older affected individuals. Pathophysiology of GAMT deficiency is thought that the accumulation of guanidinoacetate can interact with neuronal GABAA receptors and cause the neurological dysfunction which underlies these symptoms.

UniProtKB/Swiss-Prot : 74 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 : 75 Guanidinoacetate methyltransferase deficiency (GAMT deficiency), is an autosomal recessive cerebral... more...

Related Diseases for Cerebral Creatine Deficiency Syndrome 2

Diseases related to Cerebral Creatine Deficiency Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 cerebral creatine deficiency syndrome 1 31.5 SLC6A8 GATM GAMT
2 creatine deficiency syndromes 30.7 SLC6A8 GATM GAMT
3 cerebral creatine deficiency syndrome 27.7 SLC6A8 SLC6A6 OAT HAPLN1 GATM GAMT
4 dysphasia, familial developmental 11.7
5 striatonigral degeneration, infantile 11.5
6 movement disease 10.5
7 hypotonia 10.4
8 autosomal recessive disease 10.4
9 visual epilepsy 10.4
10 seizure disorder 10.4
11 speech and communication disorders 10.3
12 alacrima, achalasia, and mental retardation syndrome 10.3
13 neurometabolic disease 10.3
14 myoclonic epilepsy of unverricht and lundborg 10.1
15 trichotillomania 10.1
16 west syndrome 10.1
17 lennox-gastaut syndrome 10.1
18 epilepsy 10.1
19 early myoclonic encephalopathy 10.1
20 encephalopathy 10.1
21 febrile seizures 10.1
22 cryptogenic late-onset epileptic spasms 10.1
23 maple syrup urine disease 10.1
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
25 dystonia 10.1
26 inherited metabolic disorder 10.1
27 learning disability 10.1
28 48,xyyy 10.1
29 specific language impairment 10.0
30 speech disorder 10.0
31 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.9 SLC6A8 OAT
32 amino acid metabolic disorder 9.8 SLC6A8 GAMT
33 stuttering 9.8
34 cleft lip 9.8
35 cleft lip/palate 9.8
36 cerebral creatine deficiency syndrome 3 8.9 SLC6A8 OAT HAPLN1 GATM GAMT

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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 ataxia 32 HP:0001251
4 hyperreflexia 32 HP:0001347
5 global developmental delay 32 HP:0001263
6 delayed speech and language development 32 HP:0000750
7 hypertonia 32 HP:0001276
8 myoclonus 32 HP:0001336
9 progressive extrapyramidal movement disorder 32 HP:0007153
10 infantile muscular hypotonia 32 HP:0008947
11 reduced brain creatine level by mrs 32 HP:0025051

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 GAMT GATM HAPLN1 OAT SLC6A6 SLC6A8
2 growth/size/body region MP:0005378 9.43 GAMT GATM HAPLN1 OAT SLC6A6 SLC6A8
3 renal/urinary system MP:0005367 8.92 GAMT GATM OAT SLC6A8

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome 2

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cerebrolysin Phase 2
2 Neuroprotective Agents Phase 2
3 Nootropic Agents Phase 2
4 Mitogens Phase 2
5 Protective Agents Phase 2
6 Dill Approved
7
tannic acid Approved 1401-55-4
8
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
9
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
10
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
11 arginine
12 Complement System Proteins

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Effectiveness of a Parent-Based Language Intervention Group Program for Two-Year-Old Children With Language Delay Unknown status NCT00625261 Phase 3
2 Effect of Nerve Growth Factor (Cerebrolysin) Therapy on Neurodevelopment, Sleep Pattern and Quality of Life in Children With Traumatic Brain Injury and Cerebral Palsy Unknown status NCT02116348 Phase 2 Cerebrolysin (Nerve growth factor)
3 Building Complex Language: Effect of Treatment and Dosage Completed NCT01337232 Phase 1, Phase 2
4 Maximizing Outcomes for Preschoolers With Developmental Language Disorder: Testing the Effects of a Sequentially Targeted Naturalistic Intervention. Recruiting NCT03782493 Phase 2
5 An RCT of a Low-Intensity Intervention to Reduce Delay Unknown status NCT00110292 Phase 1
6 Participant Database for Persons Interested in Autism Research Studies: Recruiting, Pre-Screening and Diagnostic Assessment Unknown status NCT00549731
7 Psychophysics and Neurodynamic MEG/EEG Imaging of Sensory and Connectivity Abnormalities in Neurodevelopmental Disorders. Unknown status NCT00956579
8 Pivotal Response Treatment for Individuals With Intellectual Disabilities Completed NCT01988623
9 Experimental Word Learning in Children With Normal Development and Children With Language Impairment Completed NCT00607334
10 Augmentative and Alternative Communication and Lexical Gain in Children With Down Syndrome: Pilot Study Completed NCT00689988
11 Long-term Use Benefits of Personal Frequency-modulated Systems for Speech in Noise Perception in Stroke Patients With Auditory Processing Deficits- 'a Non-randomised Completed NCT02889107
12 Evaluation of the Central Auditory Processing in Patients (Elder Than 45 Years Old) With Bilateral Sensorineural Hearing Loss and the Change of the Central Auditory Processing Ability by the Use of Hearing Aids (CAPHA) Completed NCT01897181
13 Pilot Study: The Effectiveness of Computerized Auditory Training Programme on Children With Auditory Processing Disorder Completed NCT02111343
14 Developmental Intervention for Infants of Adolescent Mothers Completed NCT03547492
15 Cochlear Implantation in Single Sided Deafness and Asymmetrical Hearing Loss: a Cost/Utility Study. Completed NCT02204618
16 Central Auditory Processing Disorders Associated With Blast Exposure Completed NCT00554801
17 Biomarker for Creatine Deficiency Syndromes. An International, Multicenter, Epidemiological Study. Recruiting NCT02934854
18 Coding and Memorisation of Phonologic Information Among Preschool and School Children With Oral Language Developement Disorder. Recruiting NCT02609542
19 Strategies for Teaching Verbs Recruiting NCT03441685
20 Early UVFP Management Based on Neurological Evidences (UVFP = Unilateral Vocal Fold Paralysis) (ION-UVFP) - Preliminary Study Recruiting NCT03966183
21 Age-related Correlates of Treatment Efficacy and Efficiency for Late-acquired Sounds Recruiting NCT03663972
22 Perceptual Learning and Memory Consolidation in Adults With and Without Language Impairment Recruiting NCT03609502
23 Interactive Book Reading to Accelerate Word Learning by Children With SLI Recruiting NCT03586479
24 Parent-implemented Intervention for Very Preterm Children With Language Delay Recruiting NCT02042235
25 Efficacy of the Direct Instruction Language for Learning Program to Promote Expressive and Receptive Language in Children With Autism Spectrum Disorder Recruiting NCT02483910
26 Shape Bias Training as a Vocabulary Intervention for Late Talkers Recruiting NCT03379818
27 Manipulating Linguistic Complexity to Improve Child Language Treatment Outcomes Recruiting NCT03977701
28 Parent-Level Predictors of Early Language Interaction Quality and Intervention Outcomes Recruiting NCT03525951
29 Influence of a Intervention Break on a Treated Phonological Process in Spontaneous Speech Situations in Children Aged 5 to 6 Years With Phonologically Delayed Development Recruiting NCT03972891
30 Improving STEM Outcomes for Young Children With Language Learning Disabilities by Intervening at the Intersection of Language and Scientific Thought. Recruiting NCT03438760
31 Promoting Early School Readiness in Primary Health Care Active, not recruiting NCT00212576
32 EMT en Español: Comprehensive Early Intervention to Support School Readiness Skills for Spanish-speaking Toddlers With Language Delays Not yet recruiting NCT04066049
33 Bridging Connections: A Language Intervention Study of Preterm Infants in the NICU Not yet recruiting NCT03688386
34 Identification of Hereditary Auditory Temporal Processing Deficits Terminated NCT00004570

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 29 GAMT

Anatomical Context for Cerebral Creatine Deficiency Syndrome 2

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

41
Brain, Testes, Retina

Publications for Cerebral Creatine Deficiency Syndrome 2

Articles related to Cerebral Creatine Deficiency Syndrome 2:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. 38 8 71
15651030 2005
2
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. 38 8 71
9386672 1997
3
Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. 38 8 71
8651275 1996
4
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. 8 71
17101918 2006
5
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. 6 8
24268530 2014
6
A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene. 38 6
26319512 2016
7
Expanded newborn screening by mass spectrometry: New tests, future perspectives. 38 6
25952022 2016
8
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. 8
23660394 2013
9
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 71
23519317 2013
10
Creatine Deficiency Syndromes 71
20301745 2009
11
Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency. 8
15028668 2004
12
Creatine deficiency syndromes. 8
12701824 2003
13
Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall. 8
11196109 2000
14
Creatine deficiency in the brain: a new, treatable inborn error of metabolism. 8
7808840 1994
15
Review: Human guanidinoacetate n-methyl transferase (GAMT) deficiency: A treatable inborn error of metabolism. 6
26639513 2015
16
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency. 6
24276113 2014
17
Newborn screening for guanidinoacetate methyl transferase deficiency. 6
24477282 2014
18
Cross-talk between guanidinoacetate neurotoxicity, memory and possible neuroprotective role of creatine. 38
31398469 2019
19
LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step. 38
30858092 2019
20
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. 38
29506905 2018
21
First reported Chinese case of guanidinoacetate methyltransferase deficiency in a 4-year-old child. 38
28438604 2017
22
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. 38
27650626 2016
23
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene. 38
26003046 2015
24
Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development. 38
25896543 2015
25
Treatment of arginase deficiency revisited: guanidinoacetate as a therapeutic target and biomarker for therapeutic monitoring. 38
24814679 2014
26
Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate. 38
24766785 2014
27
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. 38
24415674 2014
28
A Japanese adult case of guanidinoacetate methyltransferase deficiency. 38
23846910 2014
29
Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency. 38
24165373 2013
30
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease. 38
23031365 2012
31
Creatine metabolism in urea cycle defects. 38
22644604 2012
32
Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency. 38
22019491 2012
33
Creatine and creatine deficiency syndromes: biochemical and clinical aspects. 38
20159424 2010
34
Guanidinoacetate methyltransferase deficiency (GAMT). 38
19289269 2010
35
Guanidinoacetate administration increases acetylcholinesterase activity in striatum of rats and impairs retention of an inhibitory avoidance task. 38
18437545 2008
36
Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency. 38
17641269 2007
37
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy. 38
17171576 2007
38
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. 38
18652076 2007
39
Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts. 38
16899382 2006
40
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. 38
16924036 2006
41
Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: increased guanidinoacetate concentrations in amniotic fluid. 38
16595836 2006
42
Intrastriatal administration of guanidinoacetate inhibits Na+, K+-ATPase and creatine kinase activities in rat striatum. 38
16773469 2006
43
Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency. 38
16054853 2005
44
Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle. 38
15234333 2004
45
Evaluation of the mechanism underlying the inhibitory effect of guanidinoacetate on brain Na+, K+-ATPase activity. 38
15245754 2004
46
Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency. 38
14752017 2004
47
Lack of creatine in muscle and brain in an adult with GAMT deficiency. 38
12557293 2003
48
Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. 38
11978605 2002
49
Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. 38
11749046 2001
50
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. 38
11393723 2001

Variations for Cerebral Creatine Deficiency Syndrome 2

ClinVar genetic disease variations for Cerebral Creatine Deficiency Syndrome 2:

6 (show all 36)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GAMT NM_000156.6(GAMT): c.133T> A (p.Trp45Arg) single nucleotide variant Pathogenic rs886054247 19:1401343-1401343 19:1401344-1401344
2 GAMT GAMT, IVS2DS, G-A, -1 single nucleotide variant Pathogenic
3 GAMT NM_000156.6(GAMT): c.299_311dup (p.Arg105fs) duplication Pathogenic rs80338736 19:1399810-1399822 19:1399811-1399823
4 GAMT NM_000156.6(GAMT): c.59G> C (p.Trp20Ser) single nucleotide variant Pathogenic rs80338734 19:1401417-1401417 19:1401418-1401418
5 GAMT NM_000156.6(GAMT): c.506G> A (p.Cys169Tyr) single nucleotide variant Pathogenic rs121909272 19:1398979-1398979 19:1398980-1398980
6 GAMT NM_000156.6(GAMT): c.148A> C (p.Met50Leu) single nucleotide variant Pathogenic rs104894694 19:1401328-1401328 19:1401329-1401329
7 GAMT NM_000156.6(GAMT): c.327G> A (p.Lys109=) single nucleotide variant Pathogenic rs80338735 19:1399792-1399792 19:1399793-1399793
8 GAMT NM_000156.6(GAMT): c.491dup (p.Val165fs) duplication Pathogenic rs749390953 19:1398994-1398994 19:1398995-1398995
9 GAMT NM_000156.6(GAMT): c.522G> A (p.Trp174Ter) single nucleotide variant Pathogenic rs370421531 19:1398963-1398963 19:1398964-1398964
10 GAMT NM_000156.6(GAMT): c.419C> A (p.Ser140Ter) single nucleotide variant Likely pathogenic rs747656257 19:1399167-1399167 19:1399168-1399168
11 GAMT NM_000156.6(GAMT): c.189G> C (p.Arg63=) single nucleotide variant Conflicting interpretations of pathogenicity rs568392459 19:1399930-1399930 19:1399931-1399931
12 GAMT NM_000156.6(GAMT): c.396C> A (p.Ile132=) single nucleotide variant Conflicting interpretations of pathogenicity rs200500835 19:1399190-1399190 19:1399191-1399191
13 GAMT NM_000156.6(GAMT): c.392-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs192416474 19:1399201-1399201 19:1399202-1399202
14 GAMT NM_000156.6(GAMT): c.328-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs371511930 19:1399596-1399596 19:1399597-1399597
15 GAMT NM_000156.6(GAMT): c.140C> T (p.Thr47Ile) single nucleotide variant Uncertain significance rs886054246 19:1401336-1401336 19:1401337-1401337
16 GAMT NM_000156.6(GAMT): c.419C> T (p.Ser140Leu) single nucleotide variant Uncertain significance rs747656257 19:1399167-1399167 19:1399168-1399168
17 GAMT NM_000156.6(GAMT): c.20C> A (p.Thr7Asn) single nucleotide variant Uncertain significance rs761687649 19:1401456-1401456 19:1401457-1401457
18 GAMT NM_000156.6(GAMT): c.64G> A (p.Ala22Thr) single nucleotide variant Uncertain significance rs886054248 19:1401412-1401412 19:1401413-1401413
19 GAMT NM_000156.6(GAMT): c.227C> T (p.Ser76Leu) single nucleotide variant Uncertain significance rs150338273 19:1399892-1399892 19:1399893-1399893
20 GAMT NM_000156.6(GAMT): c.662G> A (p.Arg221His) single nucleotide variant Uncertain significance rs766553422 19:1397407-1397407 19:1397408-1397408
21 GAMT NM_000156.5(GAMT): c.-78C> T single nucleotide variant Uncertain significance rs886054249 19:1401553-1401553 19:1401554-1401554
22 GAMT NM_000156.6(GAMT): c.570+161T> A single nucleotide variant Uncertain significance 19:1398754-1398754 19:1398755-1398755
23 GAMT NM_000156.6(GAMT): c.7G> A (p.Ala3Thr) single nucleotide variant Uncertain significance rs574164748 19:1401469-1401469 19:1401470-1401470
24 GAMT NM_000156.6(GAMT): c.182G> A (p.Gly61Glu) single nucleotide variant Uncertain significance rs77168423 19:1399937-1399937 19:1399938-1399938
25 GAMT ; NDUFS7 NM_000156.6(GAMT): c.*276C> T single nucleotide variant Likely benign rs266810 19:1397082-1397082 19:1397083-1397083
26 GAMT ; NDUFS7 NM_000156.6(GAMT): c.*311C> G single nucleotide variant Likely benign rs266811 19:1397047-1397047 19:1397048-1397048
27 GAMT ; NDUFS7 NM_000156.6(GAMT): c.*151T> C single nucleotide variant Likely benign rs659460 19:1397207-1397207 19:1397208-1397208
28 GAMT ; NDUFS7 NM_000156.6(GAMT): c.*146A> C single nucleotide variant Benign/Likely benign rs659455 19:1397212-1397212 19:1397213-1397213
29 GAMT ; NDUFS7 NM_000156.6(GAMT): c.626C> T (p.Thr209Met) single nucleotide variant Benign/Likely benign rs17851582 19:1397443-1397443 19:1397444-1397444
30 GAMT ; NDUFS7 NM_000156.6(GAMT): c.571-6G> A single nucleotide variant Benign/Likely benign rs2074899 19:1397504-1397504 19:1397505-1397505
31 GAMT NM_000156.6(GAMT): c.348G> A (p.Leu116=) single nucleotide variant Benign/Likely benign rs117884619 19:1399566-1399566 19:1399567-1399567
32 GAMT NM_000156.6(GAMT): c.*11C> T single nucleotide variant Benign/Likely benign rs149268921 19:1397347-1397347 19:1397348-1397348
33 GAMT ; NDUFS7 NM_024407.5(NDUFS7): c.*13C> A single nucleotide variant Benign/Likely benign rs11551663 19:1395500-1395500 19:1395501-1395501
34 GAMT NM_000156.6(GAMT): c.570+165G> A single nucleotide variant Benign rs74253480 19:1398750-1398750 19:1398751-1398751
35 GAMT NM_000156.6(GAMT): c.438A> G (p.Thr146=) single nucleotide variant Benign rs80338733 19:1399148-1399148 19:1399149-1399149
36 GAMT NM_000156.6(GAMT): c.460-31G> A single nucleotide variant Benign rs55776826 19:1399056-1399056 19:1399057-1399057

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

74 (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

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:

37
# 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
Show member pathways
13.49 SLC6A8 OAT GATM GAMT CS ARG1
2
Show member pathways
13.12 SLC6A8 OAT GATM GAMT ARG1
3 11.29 OAT CS ARG1
4
Show member pathways
11.01 OAT GATM GAMT ARG1
5
Show member pathways
10.97 GATM GAMT
6
Show member pathways
10.3 OAT GATM GAMT ARG1

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 muscle contraction GO:0006936 9.26 SLC6A8 GAMT
2 neurotransmitter transport GO:0006836 9.16 SLC6A8 SLC6A6
3 creatine biosynthetic process GO:0006601 8.96 GATM GAMT
4 creatine metabolic process GO:0006600 8.8 SLC6A8 GATM GAMT

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 8.96 SLC6A8 SLC6A6
2 neurotransmitter:sodium symporter activity GO:0005328 8.62 SLC6A8 SLC6A6

Sources for Cerebral Creatine Deficiency Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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