CCDS2
MCID: CRB150
MIFTS: 45

Cerebral Creatine Deficiency Syndrome 2 (CCDS2) malady

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

Aliases & Classifications for Cerebral Creatine Deficiency Syndrome 2

Aliases & Descriptions for Cerebral Creatine Deficiency Syndrome 2:

Name: Cerebral Creatine Deficiency Syndrome 2 54 12 66
Guanidinoacetate Methyltransferase Deficiency 12 50 24 25 56 66 14 69
Gamt Deficiency 12 50 24 25 56 66 13
Creatine Deficiency Syndrome Due to Gamt Deficiency 25 66
Deficiency of Guanidinoacetate Methyltransferase 25 29
Language Development Disorders 42 69
Guanidinoacetate Methyltransferase 13
Ccds2 66

Characteristics:

Orphanet epidemiological data:

56
guanidinoacetate methyltransferase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: young Adult;

HPO:

32
cerebral creatine deficiency syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 612736
Disease Ontology 12 DOID:0050799
Orphanet 56 ORPHA382
MESH via Orphanet 43 C537622
UMLS via Orphanet 70 C0574080
ICD10 via Orphanet 34 E72.8
MedGen 40 C0574080

Summaries for Cerebral Creatine Deficiency Syndrome 2

NIH Rare Diseases : 50 guanidinoacetate methyltransferase deficiency is an inherited condition that affects the brain and muscles. affected people may begin showing symptoms of the condition from early infancy to age three. signs and symptoms can vary but may include mild to severe intellectual disability, epilepsy, speech development limited to a few words, behavioral problems (i.e. hyperactivity, autistic behaviors, self-mutilation), and involuntary movements. guanidinoacetate methyltransferase deficiency is caused by changes (mutations) in the gamt gene and is inherited in an autosomal recessive manner. treatment aims to increase the levels of creatine in the brain through supplementation with high doses of oral creatine monohydrate. last updated: 11/9/2015

MalaCards based summary : Cerebral Creatine Deficiency Syndrome 2, also known as guanidinoacetate methyltransferase deficiency, is related to dysphasia, familial developmental and cerebral creatine deficiency syndrome 1, and has symptoms including ataxia, seizures and myoclonus. An important gene associated with Cerebral Creatine Deficiency Syndrome 2 is GAMT (Guanidinoacetate N-Methyltransferase), and among its related pathways/superpathways are Amino Acid metabolism and Arginine and proline metabolism. The drugs Minocycline and Donepezil have been mentioned in the context of this disorder. Affiliated tissues include brain.

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.

OMIM : 54 Guanidinoacetate methyltransferase deficiency, an autosomal recessive inborn error of creatine synthesis, is... (612736) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Guanidinoacetate methyltransferase deficiency, also called GAMT deficiency, is an autosomal... 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

Symptoms by clinical synopsis from OMIM:

612736

Clinical features from OMIM:

612736

Human phenotypes related to Cerebral Creatine Deficiency Syndrome 2:

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

UMLS symptoms related to Cerebral Creatine Deficiency Syndrome 2:


ataxia, myoclonus

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome 2

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

(show top 50) (show all 253)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minocycline Approved, Investigational Phase 4,Phase 2 10118-90-8 5281021
2
Donepezil Approved Phase 4,Phase 3,Phase 2 120014-06-4 3152
3
Milnacipran Approved Phase 4 92623-85-3 65833
4
Mebendazole Approved, Vet_approved Phase 4 31431-39-7 4030
5
Piperazine Approved, Vet_approved Phase 4 110-85-0 4837
6
Lorazepam Approved Phase 4 846-49-1 3958
7
Topiramate Approved Phase 4 97240-79-4 5284627
8
Dopamine Approved Phase 4,Phase 3,Phase 2 51-61-6, 62-31-7 681
9
Levodopa Approved Phase 4 59-92-7 6047
10
Amphetamine Approved, Illicit Phase 4 300-62-9 5826 3007
11
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
12
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
13
Iron Approved Phase 4,Phase 2 7439-89-6 23925
14
Carbidopa Approved Phase 4 28860-95-9 34359 38101
15
Methyltestosterone Approved Phase 4 58-18-4 6010
16
Testosterone Approved, Investigational Phase 4 58-22-0 6013
17 Anti-Bacterial Agents Phase 4,Phase 2
18 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Early Phase 1
20 Neuroprotective Agents Phase 4,Phase 2
21 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2
22 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
23 Hormone Antagonists Phase 4,Phase 3,Phase 2
24 Hormones Phase 4,Phase 3,Phase 2
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
26 Cholinergic Agents Phase 4,Phase 3,Phase 2
27 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 2
28 Nootropic Agents Phase 4,Phase 3,Phase 2
29 Antibiotics, Antitubercular Phase 4
30 Anti-Inflammatory Agents Phase 4
31 Adrenergic Agents Phase 4,Phase 3,Early Phase 1
32 Antidepressive Agents Phase 4,Phase 2
33 Neurotransmitter Uptake Inhibitors Phase 4,Phase 2
34 Psychotropic Drugs Phase 4,Phase 2,Phase 3
35
Serotonin Phase 4,Phase 2,Phase 3 50-67-9 5202
36 Serotonin Agents Phase 4,Phase 2,Phase 3
37 Serotonin Uptake Inhibitors Phase 4,Phase 2
38 Anthelmintics Phase 4,Phase 1,Phase 2
39 Antimitotic Agents Phase 4
40 Antiparasitic Agents Phase 4,Phase 1,Phase 2
41 Piperazine citrate Phase 4
42 Vaccines Phase 4
43 Anti-Anxiety Agents Phase 4,Phase 2,Phase 3
44 Anticonvulsants Phase 4,Phase 3,Phase 2
45 Antiemetics Phase 4
46 Anti-Obesity Agents Phase 4
47 Autonomic Agents Phase 4,Phase 3,Phase 2
48 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
49 GABA Agents Phase 4,Phase 2
50 GABA Modulators Phase 4

Interventional clinical trials:

(show top 50) (show all 399)
id Name Status NCT ID Phase
1 Minocycline to Treat Childhood Regressive Autism Completed NCT00409747 Phase 4
2 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4
3 The Effect of a Deworming Intervention to Improve Early Childhood Growth and Development in Resource-poor Areas Completed NCT01314937 Phase 4
4 Characterizing and Predicting Drug Effects on Cognition Completed NCT01889602 Phase 4
5 Dopaminergic Enhancement of Learning and Memory in Aphasia Completed NCT00102869 Phase 4
6 Interventions for Children With Attention and Reading Disorders Completed NCT01133847 Phase 4
7 INfusion VErsus STimulation in Parkinson's Disease Recruiting NCT02480803 Phase 4
8 Children's Bilateral Cochlear Implantation in Finland Recruiting NCT00960102 Phase 4
9 Iron Treatment for Young Children With Non-anemic Iron Deficiency Recruiting NCT01481766 Phase 4
10 Physiological and Psychological Effects of Testosterone During Severe Energy Deficit and Recovery Recruiting NCT02734238 Phase 4
11 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
12 Treatment of Delirium in the Elderly With Donepezil: a Double-blind, Randomized, Placebo-controlled Clinical Trial Terminated NCT01633593 Phase 4
13 Effectiveness of Early Parent-Based Language Intervention Unknown status NCT00625261 Phase 3
14 Feasibility of Omega-3 Supplementation for Children With Language Impairments Unknown status NCT01640106 Phase 3
15 Randomized Clinical Trial of Phonological Interventions Unknown status NCT00818428 Phase 2, Phase 3
16 Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Unknown status NCT00069550 Phase 3
17 Clinical and Cost Effectiveness of Positive Behaviour Support: a Trial Unknown status NCT01680276 Phase 3
18 Efficacy Study of Subcutaneous Methyl-B12 in Children With Autism Completed NCT00273650 Phase 2, Phase 3
19 Use of Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00346736 Phase 3
20 Galantamine Versus Placebo in Childhood Autism Completed NCT00252603 Phase 3
21 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3
22 Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder Completed NCT00352248 Phase 3
23 Buspirone in the Treatment of 2-6 Year Old Children With Autistic Disorder Completed NCT00873509 Phase 2, Phase 3
24 Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation Completed NCT00355329 Phase 3
25 Open-Label Extension Study of Kuvan for Autism Completed NCT00943579 Phase 2, Phase 3
26 Controlled Trial to Test the Efficacy of Lipid-based Nutrient Supplements to Prevent Severe Stunting Among Infants Completed NCT00524446 Phase 3
27 Short-Term vs. Long-Term Valganciclovir Therapy for Symptomatic Congenital CMV Infections Completed NCT00466817 Phase 3
28 Study of Rufinamide in Pediatric Subjects 1 to Less Than 4 Years of Age With Lennox-Gastaut Syndrome Inadequately Controlled With Other Anti-epileptic Drugs Completed NCT01405053 Phase 3
29 Thyroid Therapy for Mild Thyroid Deficiency in Pregnancy Completed NCT00388297 Phase 3
30 Feasibility Trial of Traumatic Brain Injured Patients Randomized in the Prehospital Setting to Either Hypertonic Saline and Dextran Versus Normal Saline Completed NCT00878631 Phase 2, Phase 3
31 Reading Problems in Children Living in Urban Areas Completed NCT00065832 Phase 3
32 Cochlear Implantation in Single Sided Deafness and Asymmetrical Hearing Loss: a Cost/Utility Study. Recruiting NCT02204618 Phase 3
33 Testing a Novel Speech Intervention in Minimally Verbal Children With Autism Spectrum Disorder (ASD) Recruiting NCT03015272 Phase 2, Phase 3
34 Efficiency of Early Intervention for Autism Spectrum Disorder Recruiting NCT02608333 Phase 3
35 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Recruiting NCT02534844 Phase 2, Phase 3
36 Follow up Study to Assess Long Term Safety and Outcomes in Infants and Children Born to Mothers Participating in Retosiban Treatment Studies Recruiting NCT02292784 Phase 3
37 Folinic Acid and Language Impairment in Autism Spectrum Disorder Not yet recruiting NCT02839915 Phase 3
38 Randomized Controlled Trial of Valganciclovir for Asymptomatic Cytomegalovirus Infected Hearing Impaired Infants Not yet recruiting NCT03107871 Phase 3
39 A Study to Compare the Long-term Outcomes After Two Different Anaesthetics Not yet recruiting NCT03089905 Phase 3
40 Protocol to Monitor the Neurological Development of Infants With Exposure in Utero From Birth to 15 Months in Tanezumab Clinical Studies Not yet recruiting NCT03031938 Phase 3
41 A Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Tolerability of Asenapine With Flexible Dosing From 5mg to 20mg in Adults With Developmental Stuttering Suspended NCT01684657 Phase 3
42 A Study of Galantamine Used to Treat Patients With Mild to Moderate Alzheimer's Disease Terminated NCT00679627 Phase 3
43 A Study of Pediatric Patients With Attention Deficit/Hyperactivity Disorder Terminated NCT00965419 Phase 2, Phase 3
44 Comparison of rhBSSL With Placebo When Added to Infant Formula or Pasteurized Breast Milk During 4 Weeks of Treatment in Preterm Infants Terminated NCT01413581 Phase 3
45 Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children Withdrawn NCT01499901 Phase 3
46 Cerebrolysin Neural Repair Therapy in Children With Traumatic Brain Injury and Cerebral Palsy Unknown status NCT02116348 Phase 2
47 Trial of Low-Dose Naltrexone for Children With Pervasive Developmental Disorder (PDD) Unknown status NCT00318162 Phase 1, Phase 2
48 Oral Language in Children With Down Syndrome Unknown status NCT00952354 Phase 2
49 Using Web-based Technology to Expand and Enhance Applied Behavioral Analysis Programs for Children With Autism in Military Families Unknown status NCT01614275 Phase 1, Phase 2
50 Deep rTMS (Repetitive Transcranial Magnetic Stimulation)for Treatment of Autism Symptoms in Children. Unknown status NCT01388179 Phase 2

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:

id Genetic test Affiliating Genes
1 Deficiency of Guanidinoacetate Methyltransferase 29
2 Guanidinoacetate Methyltransferase Deficiency 24 GAMT

Anatomical Context for Cerebral Creatine Deficiency Syndrome 2

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

39
Brain

Publications for Cerebral Creatine Deficiency Syndrome 2

Variations for Cerebral Creatine Deficiency Syndrome 2

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

66 (show all 18)
id 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
5 GAMT p.Cys169Tyr VAR_058106 rs121909272
6 GAMT p.Leu197Pro VAR_058107
7 GAMT p.Trp45Arg VAR_071777
8 GAMT p.Gly68Cys VAR_071778
9 GAMT p.Ala75Val VAR_071779
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
14 GAMT p.Leu159Pro VAR_071784
15 GAMT p.Gly164Asp VAR_071785 rs760101382
16 GAMT p.Leu166Pro VAR_071786
17 GAMT p.Cys169Arg VAR_071787
18 GAMT p.Arg208Pro VAR_071788 rs767887772

ClinVar genetic disease variations for Cerebral Creatine Deficiency Syndrome 2:

6
id 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.299_311dupGGGACTGGGCCCC (p.Arg105Glyfs) duplication Pathogenic rs80338736 GRCh37 Chromosome 19, 1399810: 1399822
3 GAMT NM_000156.5(GAMT): c.59G> C (p.Trp20Ser) single nucleotide variant Pathogenic rs80338734 GRCh37 Chromosome 19, 1401417: 1401417
4 GAMT NM_000156.5(GAMT): c.506G> A (p.Cys169Tyr) single nucleotide variant Pathogenic rs121909272 GRCh37 Chromosome 19, 1398979: 1398979
5 GAMT NM_000156.5(GAMT): c.148A> C (p.Met50Leu) single nucleotide variant Pathogenic rs104894694 GRCh37 Chromosome 19, 1401328: 1401328
6 GAMT NM_000156.5(GAMT): c.327G> A (p.Lys109=) single nucleotide variant Pathogenic rs80338735 GRCh37 Chromosome 19, 1399792: 1399792
7 GAMT NM_000156.5(GAMT): c.522G> A (p.Trp174Ter) single nucleotide variant Pathogenic rs370421531 GRCh37 Chromosome 19, 1398963: 1398963
8 GAMT NM_000156.5(GAMT): c.133T> A (p.Trp45Arg) single nucleotide variant Likely pathogenic rs886054247 GRCh37 Chromosome 19, 1401343: 1401343

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 GeneCards Suite gene sharing:

id 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:

id Name GO ID Score Top Affiliating Genes
1 amino acid transport GO:0006865 9.26 SLC6A6 XK
2 neurotransmitter transport GO:0006836 9.16 SLC6A6 SLC6A8
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 2 according to GeneCards Suite gene sharing:

id 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
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....