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

Aliases & Descriptions for Cerebral Creatine Deficiency Syndrome 3:

Name: Cerebral Creatine Deficiency Syndrome 3 54 12 25 66
Agat Deficiency 12 25 56 66 13 14
Arginine:glycine Amidinotransferase Deficiency 12 25 66 29 69
Creatine Deficiency Syndrome Due to Agat Deficiency 25 66
L-Arginine:glycine Amidinotransferase Deficiency 25 56
Gatm Deficiency 25 66
L-Arginine:glycine Aminidotransferase Deficiency 25
Ccds3 66

Characteristics:

Orphanet epidemiological data:

56
l-arginine:glycine amidinotransferase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

HPO:

32
cerebral creatine deficiency syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 612718
Disease Ontology 12 DOID:0050712
Orphanet 56 ORPHA35704
ICD10 via Orphanet 34 E72.8
MedGen 40 C2675179

Summaries for Cerebral Creatine Deficiency Syndrome 3

OMIM : 54 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 intellectual disability, failure to thrive and global developmental delay. An important gene associated with Cerebral Creatine Deficiency Syndrome 3 is GATM (Glycine Amidinotransferase), and among its related pathways/superpathways are Arginine and proline metabolism and Glycine, serine and threonine metabolism. The drug Creatine has been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotype is Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection.

UniProtKB/Swiss-Prot : 66 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.

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.

Disease Ontology : 12 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.

Related Diseases for Cerebral Creatine Deficiency Syndrome 3

Graphical network of the top 20 diseases related to Cerebral Creatine Deficiency Syndrome 3:



Diseases related to Cerebral Creatine Deficiency Syndrome 3

Symptoms & Phenotypes for Cerebral Creatine Deficiency Syndrome 3

Symptoms by clinical synopsis from OMIM:

612718

Clinical features from OMIM:

612718

Human phenotypes related to Cerebral Creatine Deficiency Syndrome 3:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 failure to thrive 32 HP:0001508
3 global developmental delay 32 HP:0001263
4 delayed speech and language development 32 HP:0000750
5 autism 32 HP:0000717
6 organic aciduria 32 HP:0001992
7 abnormality of creatine metabolism 32 HP:0012113
8 gowers sign 32 HP:0003391

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection GR00233-A-1 8.8 DDX21 GATM SLC6A8

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome 3

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Creatine Approved, Nutraceutical 57-00-1 586

Interventional clinical trials:


id Name Status NCT ID Phase
1 Assessment of the HIV CNS Reservoir, Neurological and Neuro-cognitive Effects, and Source of Rebound HIV in CNS Completed NCT02470351
2 Biomarker for Creatine Deficiency Syndromes Recruiting NCT02934854

Search NIH Clinical Center for Cerebral Creatine Deficiency Syndrome 3

Genetic Tests for Cerebral Creatine Deficiency Syndrome 3

Genetic tests related to Cerebral Creatine Deficiency Syndrome 3:

id Genetic test Affiliating Genes
1 Arginine:glycine Amidinotransferase Deficiency 29

Anatomical Context for Cerebral Creatine Deficiency Syndrome 3

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

39
Brain

Publications for Cerebral Creatine Deficiency Syndrome 3

Variations for Cerebral Creatine Deficiency Syndrome 3

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

66 (show all 11)
id Symbol AA change Variation ID SNP ID
1 GATM p.Tyr203Ser VAR_069816 rs397514709
2 GATM p.Arg413Gln VAR_071789
3 GATM p.Arg413Trp VAR_071790
4 GATM p.Pro105Leu VAR_076486 rs147804855
5 GATM p.Glu181Lys VAR_076487 rs376982466
6 GATM p.Ala185Pro VAR_076488
7 GATM p.Arg189Cys VAR_076489 rs377578020
8 GATM p.Ala208Thr VAR_076490 rs374059924
9 GATM p.Arg282His VAR_076493 rs371447931
10 GATM p.Leu329Val VAR_076494 rs373802463
11 GATM p.Pro346Leu VAR_076495 rs142814307

ClinVar genetic disease variations for Cerebral Creatine Deficiency Syndrome 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GATM NM_001482.2(GATM): c.446G> A (p.Trp149Ter) single nucleotide variant Pathogenic rs80338737 GRCh37 Chromosome 15, 45661562: 45661562
2 GATM NM_001482.2(GATM): c.484+1G> T single nucleotide variant Pathogenic rs80338738 GRCh37 Chromosome 15, 45661523: 45661523
3 GATM NM_001482.2(GATM): c.1111dupA (p.Met371Asnfs) duplication Pathogenic rs397515542 GRCh37 Chromosome 15, 45656146: 45656146
4 GATM NM_001482.2(GATM): c.505C> T (p.Arg169Ter) single nucleotide variant Pathogenic rs397514708 GRCh37 Chromosome 15, 45660438: 45660438
5 GATM NM_001482.2(GATM): c.608A> C (p.Tyr203Ser) single nucleotide variant Pathogenic rs397514709 GRCh37 Chromosome 15, 45660335: 45660335

Expression for Cerebral Creatine Deficiency Syndrome 3

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

Pathways for Cerebral Creatine Deficiency Syndrome 3

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.89 GAMT GATM OAT
2
Show member pathways
10.87 GAMT GATM
3
Show member pathways
10.18 GAMT GATM OAT

GO Terms for Cerebral Creatine Deficiency Syndrome 3

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

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.16 GAMT SLC6A8
2 creatine biosynthetic process GO:0006601 8.96 GAMT GATM
3 creatine metabolic process GO:0006600 8.8 GAMT GATM SLC6A8

Sources for Cerebral Creatine Deficiency Syndrome 3

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
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