MCID: CRB148
MIFTS: 36

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 51 11 25 69
Agat Deficiency 11 25 53 69 12 13
Arginine:glycine Amidinotransferase Deficiency 11 25 69 26 67
Creatine Deficiency Syndrome Due to Agat Deficiency 25 69
 
L-Arginine:glycine Amidinotransferase Deficiency 25 53
Gatm Deficiency 25 69
L-Arginine:glycine Aminidotransferase Deficiency 25
Ccds3 69

Characteristics:

Orphanet epidemiological data:

53
agat deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy

HPO:

63
cerebral creatine deficiency syndrome 3:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 612718
Disease Ontology11 DOID:0050712
Orphanet53 ORPHA35704
ICD10 via Orphanet30 E72.8
MedGen36 C2675179

Summaries for Cerebral Creatine Deficiency Syndrome 3

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OMIM:51 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:69 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:25 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
1l-arginine:glycine amidinotransferase deficiency11.1
2cerebral creatine deficiency syndrome 110.9
3spastic paraplegia 24, autosomal recessive9.9OAT, SLC6A8
4myopathy9.8
5creatine deficiency syndromes9.8
6dcx-related disorders9.4GAMT, GATM, SLC6A8
7hypogonadotropic hypogonadism 8 with or without anosmia7.9DDX21, GAMT, GATM, HAPLN1, OAT, SLC6A8
8dyslexia 17.5DDX21, GAMT, GATM, HAPLN1, HTN3, OAT

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

Human phenotypes related to Cerebral Creatine Deficiency Syndrome 3:

 63 (show all 8)
id Description HPO Frequency HPO Source Accession
1 gowers sign63 rare (5%) HP:0003391
2 autism63 HP:0000717
3 delayed speech and language development63 HP:0000750
4 intellectual disability63 HP:0001249
5 global developmental delay63 HP:0001263
6 failure to thrive63 HP:0001508
7 organic aciduria63 HP:0001992
8 abnormality of creatine metabolism63 HP:0012113

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome 3

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Drugs for Cerebral Creatine Deficiency Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Creatineapproved, nutraceutical12657-00-1586
Synonyms:
((amino(Imino)methyl)(methyl)amino)acetic acid
((amino(imino)methyl)(methyl)amino)acetate
((amino(imino)methyl)(methyl)amino)acetic acid
(N-methylcarbamimidamido)acetic acid
(alpha-Methylguanido)acetate
(alpha-Methylguanido)acetic acid
(╬▒-methylguanido)acetic acid
Cosmocair C 100
Creatin
Creatine
Creatine hydrate
Kreatin
 
Krebiozon
Methylglycocyamine
Methylguanidoacetate
Methylguanidoacetic acid
N-(Aminoiminomethyl)-N-Methyl-Glycine
N-(aminoiminomethyl)-N-methylglycine
N-Amidinosarcosine
N-Carbamimidoyl-N-methylglycine
N-Methyl-N-guanylglycine
N-[(e)-AMINO(imino)methyl]-N-methylglycine
Phosphagen
[[Amino(imino)methyl](methyl)amino]acetate
[[Amino(imino)methyl](methyl)amino]acetic acid
alpha-Methylguanidino acetic acid

Interventional clinical trials:

idNameStatusNCT IDPhase
1Assessment of the HIV CNS Reservoir, Neurological and Neuro-cognitive Effects, and Source of Rebound HIV in CNSCompletedNCT02470351
2Biomarker for Creatine Deficiency SyndromesRecruitingNCT02934854

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 Deficiency26

Anatomical Context for Cerebral Creatine Deficiency Syndrome 3

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

35
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:

69 (show all 11)
id Symbol AA change Variation ID SNP ID
1GATMp.Tyr203SerVAR_069816rs397514709
2GATMp.Arg413GlnVAR_071789
3GATMp.Arg413TrpVAR_071790
4GATMp.Pro105LeuVAR_076486rs147804855
5GATMp.Glu181LysVAR_076487rs376982466
6GATMp.Ala185ProVAR_076488
7GATMp.Arg189CysVAR_076489rs377578020
8GATMp.Ala208ThrVAR_076490rs374059924
9GATMp.Arg282HisVAR_076493rs371447931
10GATMp.Leu329ValVAR_076494rs373802463
11GATMp.Pro346LeuVAR_076495rs142814307

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> TSNVPathogenicrs80338738GRCh37Chr 15, 45661523: 45661523
2GATMNM_001482.2(GATM): c.1111dupA (p.Met371Asnfs)duplicationPathogenicrs397515542GRCh37Chr 15, 45656146: 45656146
3GATMNM_001482.2(GATM): c.505C> T (p.Arg169Ter)SNVPathogenicrs397514708GRCh37Chr 15, 45660438: 45660438
4GATMNM_001482.2(GATM): c.608A> C (p.Tyr203Ser)SNVPathogenicrs397514709GRCh37Chr 15, 45660335: 45660335
5GATMNM_001482.2(GATM): c.446G> A (p.Trp149Ter)SNVPathogenicrs80338737GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet