MCID: CRB148
MIFTS: 29

Cerebral Creatine Deficiency Syndrome 3 malady

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

Summaries for Cerebral Creatine Deficiency Syndrome 3

About this section


OMIM:47 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: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.

Aliases & Classifications for Cerebral Creatine Deficiency Syndrome 3

About this section

Cerebral Creatine Deficiency Syndrome 3, Aliases & Descriptions:

Name: Cerebral Creatine Deficiency Syndrome 3 47 10
Agat Deficiency 10 11 43 23 12 49
L-Arginine:glycine Amidinotransferase Deficiency 43 22 23 49
 
Arginine:glycine Amidinotransferase Deficiency 10 43 23 24
Creatine Deficiency Syndrome Due to Agat Deficiency 23
Gatm Deficiency 23


Classifications:



Characteristics (Orphanet epidemiological data):

49
agat deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy


External Ids:

OMIM47 612718
Disease Ontology10 DOID:0050712
Orphanet49 35704
ICD10 via Orphanet28 E72.8

Related Diseases for Cerebral Creatine Deficiency Syndrome 3

About this section

Diseases related to Cerebral Creatine Deficiency Syndrome 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

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

Symptoms for Cerebral Creatine Deficiency Syndrome 3

About this section

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

About this section

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

About this section

Genetic tests related to Cerebral Creatine Deficiency Syndrome 3:

id Genetic test Affiliating Genes
1 L-Arginine:glycine Amidinotransferase Deficiency22 GATM
2 Arginine:glycine Amidinotransferase Deficiency24

Anatomical Context for Cerebral Creatine Deficiency Syndrome 3

About this section

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

33
Brain

Animal Models for Cerebral Creatine Deficiency Syndrome 3 or affiliated genes

About this section

Publications for Cerebral Creatine Deficiency Syndrome 3

About this section

Variations for Cerebral Creatine Deficiency Syndrome 3

About this section

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

64
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:

7
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

About this section

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

Pathways for genes affiliated with Cerebral Creatine Deficiency Syndrome 3

About this section

Compounds for genes affiliated with Cerebral Creatine Deficiency Syndrome 3

About this section

GO Terms for genes affiliated with Cerebral Creatine Deficiency Syndrome 3

About this section

Products for genes affiliated with Cerebral Creatine Deficiency Syndrome 3

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cerebral Creatine Deficiency Syndrome 3

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet