CCDS3
MCID: CRB148
MIFTS: 36

Cerebral Creatine Deficiency Syndrome 3 (CCDS3) malady

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

Aliases & Classifications for Cerebral Creatine Deficiency Syndrome 3

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Aliases & Descriptions for Cerebral Creatine Deficiency Syndrome 3:

Name: Cerebral Creatine Deficiency Syndrome 3 52 11 25 70
Agat Deficiency 11 25 54 70 12 13
Arginine:glycine Amidinotransferase Deficiency 11 25 70 27 68
Creatine Deficiency Syndrome Due to Agat Deficiency 25 70
 
L-Arginine:glycine Amidinotransferase Deficiency 25 54
Gatm Deficiency 25 70
L-Arginine:glycine Aminidotransferase Deficiency 25
Ccds3 70

Characteristics:

Orphanet epidemiological data:

54
agat deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy

HPO:

64
cerebral creatine deficiency syndrome 3:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 612718
Disease Ontology11 DOID:0050712
Orphanet54 ORPHA35704
ICD10 via Orphanet31 E72.8
MedGen37 C2675179

Summaries for Cerebral Creatine Deficiency Syndrome 3

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OMIM:52 Cerebral creatine deficiency syndrome-3 is an autosomal recessive disorder characterized by developmental... (612718) more...

MalaCards based summary: Cerebral Creatine Deficiency Syndrome 3, also known as agat deficiency, is related to l-arginine:glycine amidinotransferase deficiency and cerebral creatine deficiency syndrome 1, and has symptoms including autism, delayed speech and language development and intellectual disability. An important gene associated with Cerebral Creatine Deficiency Syndrome 3 is GATM (Glycine Amidinotransferase), and among its related pathways are Glycine, serine and threonine metabolism and Arginine and proline metabolism. Affiliated tissues include brain, and related mouse phenotype Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection.

Disease Ontology:11 An amino acid metabolic disorder that has material basis in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.

Genetics Home Reference:25 Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They may experience seizures, especially when they have a fever.

UniProtKB/Swiss-Prot:70 Cerebral creatine deficiency syndrome 3: An autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life.

Related Diseases for Cerebral Creatine Deficiency Syndrome 3

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Graphical network of diseases related to Cerebral Creatine Deficiency Syndrome 3:



Diseases related to cerebral creatine deficiency syndrome 3

Symptoms & Phenotypes for Cerebral Creatine Deficiency Syndrome 3

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Symptoms by clinical synopsis from OMIM:

612718

Clinical features from OMIM:

612718

Human phenotypes related to Cerebral Creatine Deficiency Syndrome 3:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 autism64 HP:0000717
2 delayed speech and language development64 HP:0000750
3 intellectual disability64 HP:0001249
4 global developmental delay64 HP:0001263
5 failure to thrive64 HP:0001508
6 organic aciduria64 HP:0001992
7 gowers sign64 HP:0003391
8 abnormality of creatine metabolism64 HP:0012113

GenomeRNAi Phenotypes related to Cerebral Creatine Deficiency Syndrome 3 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00233-A-19.1DDX21, GATM, SLC6A8

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome 3

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Drugs for Cerebral Creatine Deficiency Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Creatineapproved, nutraceutical13057-00-1586
Synonyms:
((amino(Imino)methyl)(methyl)amino)acetic acid
((amino(imino)methyl)(methyl)amino)acetate
((amino(imino)methyl)(methyl)amino)acetic acid
(N-methylcarbamimidamido)acetic acid
(alpha-Methylguanido)acetate
(alpha-Methylguanido)acetic acid
(╬▒-methylguanido)acetic acid
Cosmocair C 100
Creatin
Creatine
Creatine hydrate
Kreatin
 
Krebiozon
Methylglycocyamine
Methylguanidoacetate
Methylguanidoacetic acid
N-(Aminoiminomethyl)-N-Methyl-Glycine
N-(aminoiminomethyl)-N-methylglycine
N-Amidinosarcosine
N-Carbamimidoyl-N-methylglycine
N-Methyl-N-guanylglycine
N-[(e)-AMINO(imino)methyl]-N-methylglycine
Phosphagen
[[Amino(imino)methyl](methyl)amino]acetate
[[Amino(imino)methyl](methyl)amino]acetic acid
alpha-Methylguanidino acetic acid

Interventional clinical trials:

idNameStatusNCT IDPhase
1Assessment of the HIV CNS Reservoir, Neurological and Neuro-cognitive Effects, and Source of Rebound HIV in CNSCompletedNCT02470351
2Biomarker for Creatine Deficiency SyndromesRecruitingNCT02934854

Search NIH Clinical Center for Cerebral Creatine Deficiency Syndrome 3

Genetic Tests for Cerebral Creatine Deficiency Syndrome 3

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Genetic tests related to Cerebral Creatine Deficiency Syndrome 3:

id Genetic test Affiliating Genes
1 Arginine:glycine Amidinotransferase Deficiency27

Anatomical Context for Cerebral Creatine Deficiency Syndrome 3

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MalaCards organs/tissues related to Cerebral Creatine Deficiency Syndrome 3:

36
Brain

Publications for Cerebral Creatine Deficiency Syndrome 3

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Variations for Cerebral Creatine Deficiency Syndrome 3

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UniProtKB/Swiss-Prot genetic disease variations for Cerebral Creatine Deficiency Syndrome 3:

70 (show all 11)
id Symbol AA change Variation ID SNP ID
1GATMp.Tyr203SerVAR_069816rs397514709
2GATMp.Arg413GlnVAR_071789
3GATMp.Arg413TrpVAR_071790
4GATMp.Pro105LeuVAR_076486rs147804855
5GATMp.Glu181LysVAR_076487rs376982466
6GATMp.Ala185ProVAR_076488
7GATMp.Arg189CysVAR_076489rs377578020
8GATMp.Ala208ThrVAR_076490rs374059924
9GATMp.Arg282HisVAR_076493rs371447931
10GATMp.Leu329ValVAR_076494rs373802463
11GATMp.Pro346LeuVAR_076495rs142814307

Clinvar genetic disease variations for Cerebral Creatine Deficiency Syndrome 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GATMNM_ 001482.2(GATM): c.484+1G> TSNVPathogenicrs80338738GRCh37Chr 15, 45661523: 45661523
2GATMNM_ 001482.2(GATM): c.1111dupA (p.Met371Asnfs)duplicationPathogenicrs397515542GRCh37Chr 15, 45656146: 45656146
3GATMNM_ 001482.2(GATM): c.505C> T (p.Arg169Ter)SNVPathogenicrs397514708GRCh37Chr 15, 45660438: 45660438
4GATMNM_ 001482.2(GATM): c.608A> C (p.Tyr203Ser)SNVPathogenicrs397514709GRCh37Chr 15, 45660335: 45660335
5GATMNM_ 001482.2(GATM): c.446G> A (p.Trp149Ter)SNVPathogenicrs80338737GRCh37Chr 15, 45661562: 45661562

Expression for genes affiliated with Cerebral Creatine Deficiency Syndrome 3

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Search GEO for disease gene expression data for Cerebral Creatine Deficiency Syndrome 3.

Pathways for genes affiliated with Cerebral Creatine Deficiency Syndrome 3

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Pathways related to Cerebral Creatine Deficiency Syndrome 3 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7GAMT, GATM
2
Show member pathways
9.2GAMT, GATM, OAT
3
Show member pathways
9.2GAMT, GATM, OAT

GO Terms for genes affiliated with Cerebral Creatine Deficiency Syndrome 3

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Biological processes related to Cerebral Creatine Deficiency Syndrome 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1creatine biosynthetic processGO:000660110.2GAMT, GATM
2creatine metabolic processGO:00066009.8GAMT, GATM, SLC6A8
3muscle contractionGO:00069369.6GAMT, SLC6A8

Sources for Cerebral Creatine Deficiency Syndrome 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet