MCID: CRB148
MIFTS: 38

Cerebral Creatine Deficiency Syndrome 3 malady

Genetic diseases (common), Metabolic diseases categories

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 67
Arginine:glycine Amidinotransferase Deficiency 10 23 24 65 67
Agat Deficiency 10 11 23 12 67
Creatine Deficiency Syndrome Due to Agat Deficiency 23 67
 
Gatm Deficiency 23 67
L-Arginine:glycine Amidinotransferase Deficiency 23
Ccds3 67


Classifications:



External Ids:

OMIM49 612718
Disease Ontology10 DOID:0050712
MedGen34 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 encephalomyopathy, and has symptoms including gowers sign, autosomal recessive inheritance and autism. An important gene associated with Cerebral Creatine Deficiency Syndrome 3 is GATM (Glycine Amidinotransferase (L-Arginine: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 phenotypes are adipose tissue and renal/urinary system.

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.

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.

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.

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 10)
id Description Frequency HPO Source Accession
1 gowers sign rare (5%) HP:0003391
2 autosomal recessive inheritance HP:0000007
3 autism HP:0000717
4 delayed speech and language development HP:0000750
5 intellectual disability HP:0001249
6 global developmental delay HP:0001263
7 failure to thrive HP:0001508
8 organic aciduria HP:0001992
9 infantile onset HP:0003593
10 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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Genetic tests related to Cerebral Creatine Deficiency Syndrome 3:

id Genetic test Affiliating Genes
1 Arginine:glycine Amidinotransferase Deficiency24

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:00053759.3GAMT, GATM, SLC6A8
2MP:00053678.2GAMT, GATM, OAT, SLC7A7
3MP:00053867.9GAMT, GATM, OAT, SLC6A8, SLC7A7

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 pathways (with members indented)ScoreTop 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:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1creatine biosynthetic processGO:000660110.3GAMT, GATM
2embryonic liver developmentGO:199040210.3GAMT, GATM
3muscle contractionGO:000693610.0GAMT, SLC6A8
4creatine metabolic processGO:00066009.7GAMT, GATM, SLC6A8
5polyamine metabolic processGO:00065959.7GAMT, GATM, SLC6A8
6small molecule metabolic processGO:00442818.7GAMT, GATM, OAT, SLC6A8
7cellular nitrogen compound metabolic processGO:00346418.4GAMT, GATM, 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