MCID: CRB148
MIFTS: 35

Cerebral Creatine Deficiency Syndrome 3 malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare 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 50 11 24 68
Agat Deficiency 11 24 13 52 68 12
Arginine:glycine Amidinotransferase Deficiency 11 24 68 25 66
Creatine Deficiency Syndrome Due to Agat Deficiency 24 68
 
L-Arginine:glycine Amidinotransferase Deficiency 24 52
Gatm Deficiency 24 68
L-Arginine:glycine Aminidotransferase Deficiency 24
Ccds3 68

Characteristics:

Orphanet epidemiological data:

52
agat deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy

HPO:

62
cerebral creatine deficiency syndrome 3:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 612718
Disease Ontology11 DOID:0050712
Orphanet52 ORPHA35704
ICD10 via Orphanet29 E72.8
MedGen35 C2675179

Summaries for Cerebral Creatine Deficiency Syndrome 3

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OMIM:50 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 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.

Disease Ontology:11 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:68 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:24 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:

idNameStatusNCT IDPhase
1Assessment of the HIV CNS Reservoir, Neurological and Neuro-cognitive Effects, and Source of Rebound HIV in CNSCompletedNCT02470351

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 Arginine:glycine Amidinotransferase Deficiency25

Anatomical Context for Cerebral Creatine Deficiency Syndrome 3

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

34
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:

68 (show all 11)
id Symbol AA change Variation ID SNP ID
1GATMp.Tyr203SerVAR_069816rs397514709
2GATMp.Arg413GlnVAR_071789
3GATMp.Arg413TrpVAR_071790
4GATMp.Pro105LeuVAR_076486
5GATMp.Glu181LysVAR_076487
6GATMp.Ala185ProVAR_076488
7GATMp.Arg189CysVAR_076489
8GATMp.Ala208ThrVAR_076490
9GATMp.Arg282HisVAR_076493
10GATMp.Leu329ValVAR_076494
11GATMp.Pro346LeuVAR_076495

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
9.7GAMT, 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:

idNameGO IDScoreTop Affiliating Genes
1creatine biosynthetic processGO:000660110.2GAMT, GATM
2muscle contractionGO:00069369.6GAMT, SLC6A8
3creatine metabolic processGO:00066009.3GAMT, GATM, SLC6A8

Sources for Cerebral Creatine Deficiency Syndrome 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet