MCID: CRB148
MIFTS: 36

Cerebral Creatine Deficiency Syndrome 3 malady

Categories: Genetic diseases (common), Metabolic 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 49 10 23 67
Arginine:glycine Amidinotransferase Deficiency 10 23 67 24 65
Agat Deficiency 10 11 23 12 67
Creatine Deficiency Syndrome Due to Agat Deficiency 23 67
 
Gatm Deficiency 23 67
L-Arginine:glycine Aminidotransferase Deficiency 23
L-Arginine:glycine Amidinotransferase Deficiency 23
Ccds3 67

Characteristics:

HPO:

61
cerebral creatine deficiency syndrome 3:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM49 612718
Disease Ontology10 DOID:0050712
MedGen34 C2675179
UMLS65 C2675179

Summaries for Cerebral Creatine Deficiency Syndrome 3

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OMIM:49 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 arginine:glycine amidinotransferase deficiency, is related to l-arginine:glycine amidinotransferase deficiency and cerebral creatine deficiency syndrome 1, and has symptoms including gowers sign, autism and delayed speech and language development. 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 adipose tissue.

Disease Ontology:10 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.

UniProtKB/Swiss-Prot:67 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:23 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.

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 for Cerebral Creatine Deficiency Syndrome 3

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Symptoms by clinical synopsis from OMIM:

612718

Clinical features from OMIM:

612718

HPO human phenotypes related to Cerebral Creatine Deficiency Syndrome 3:

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

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome 3

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cerebral Creatine Deficiency Syndrome 3

Genetic Tests for Cerebral Creatine Deficiency Syndrome 3

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Anatomical Context for Cerebral Creatine Deficiency Syndrome 3

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

33
Brain

Animal Models for Cerebral Creatine Deficiency Syndrome 3 or affiliated genes

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MGI Mouse Phenotypes related to Cerebral Creatine Deficiency Syndrome 3:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.4GAMT, GATM, SLC6A8

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:

67
id Symbol AA change Variation ID SNP ID
1GATMp.Tyr203SerVAR_069816
2GATMp.Arg413GlnVAR_071789
3GATMp.Arg413TrpVAR_071790

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> Tsingle nucleotide variantPathogenicrs80338738GRCh37Chr 15, 45661523: 45661523
2GATMNM_001482.2(GATM): c.1111dupA (p.Met371Asnfs)duplicationPathogenicrs397515542GRCh37Chr 15, 45656146: 45656146
3GATMNM_001482.2(GATM): c.505C> T (p.Arg169Ter)single nucleotide variantPathogenicrs397514708GRCh37Chr 15, 45660438: 45660438
4GATMGATM, IVS3DS, G-T, +1single nucleotide variantPathogenic
5GATMNM_001482.2(GATM): c.608A> C (p.Tyr203Ser)single nucleotide variantPathogenicrs397514709GRCh37Chr 15, 45660335: 45660335
6GATMNM_001482.2(GATM): c.446G> A (p.Trp149Ter)single nucleotide variantPathogenicrs80338737GRCh37Chr 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
9.6GAMT, GATM
2
Show member pathways
9.0GAMT, GATM, OAT
3
Show member pathways
9.0GAMT, 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
1muscle contractionGO:00069369.5GAMT, SLC6A8
2polyamine metabolic processGO:00065959.4GAMT, GATM, SLC6A8
3cellular nitrogen compound metabolic processGO:00346418.9GATM, OAT, SLC6A8

Sources for Cerebral Creatine Deficiency Syndrome 3

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet