MCID: CRB148
MIFTS: 26

Cerebral Creatine Deficiency Syndrome 3 malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Cerebral Creatine Deficiency Syndrome 3

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Cerebral Creatine Deficiency Syndrome 3, Aliases & Descriptions:

Name: Cerebral Creatine Deficiency Syndrome 3 45 9
Agat Deficiency 9 10 41 21 11 47
Arginine:glycine Amidinotransferase Deficiency 9 41 21 22 60
 
L-Arginine:glycine Amidinotransferase Deficiency 41 20 21 47
Creatine Deficiency Syndrome Due to Agat Deficiency 21
Gatm Deficiency 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
agat deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy


External Ids:

OMIM45 612718
Disease Ontology9 DOID:0050712
Orphanet47 35704
ICD10 via Orphanet26 E72.8

Summaries for Cerebral Creatine Deficiency Syndrome 3

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OMIM:45 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 encephalomyopathy and myopathy, 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)). Affiliated tissues include brain.

Disease Ontology:9 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:21 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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Diseases related to Cerebral Creatine Deficiency Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1encephalomyopathy10.4
2myopathy10.2
3creatine deficiency syndromes10.2

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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Drug clinical trials:

Search ClinicalTrials for Cerebral Creatine Deficiency Syndrome 3

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 L-Arginine:glycine Amidinotransferase Deficiency20 GATM
2 Arginine:glycine Amidinotransferase Deficiency22

Anatomical Context for Cerebral Creatine Deficiency Syndrome 3

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

31
Brain

Animal Models for Cerebral Creatine Deficiency Syndrome 3 or affiliated genes

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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:

62
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:

6
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, 45656145: 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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Compounds for genes affiliated with Cerebral Creatine Deficiency Syndrome 3

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GO Terms for genes affiliated with Cerebral Creatine Deficiency Syndrome 3

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Products for genes affiliated with Cerebral Creatine Deficiency Syndrome 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cerebral Creatine Deficiency Syndrome 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet