MCID: CRB137
MIFTS: 33

Cerebral Creatine Deficiency Syndrome

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Cerebral Creatine Deficiency Syndrome

MalaCards integrated aliases for Cerebral Creatine Deficiency Syndrome:

Name: Cerebral Creatine Deficiency Syndrome 12 36 29 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050798
KEGG 36 H00849

Summaries for Cerebral Creatine Deficiency Syndrome

KEGG : 36 Cerebral creatine deficiency syndrome (CCDS) is a group of inborn errors of creatine metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency (CCDS2), and arginine:glycine amidinotransferase deficiency (CCDS3). Intellectual disability and seizures are common to all three disorders. CCDS1 is the creatine transporter (SLC6A8) deficiency. CCDS2 and CCDS3 are creatine biosynthesis disorders and inherited in an autosomal recessive manner.

MalaCards based summary : Cerebral Creatine Deficiency Syndrome is related to cerebral creatine deficiency syndrome 3 and creatine deficiency syndromes. An important gene associated with Cerebral Creatine Deficiency Syndrome is GAMT (Guanidinoacetate N-Methyltransferase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Arginine and proline metabolism. Affiliated tissues include brain and retina, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has material basis in mutation in the creatine transporter gene on chromosome Xq28.

Wikipedia : 74 Cerebral creatine deficiencies are a small group of inherited disorders that result from defects in... more...

Related Diseases for Cerebral Creatine Deficiency Syndrome

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 cerebral creatine deficiency syndrome 3 33.8 SLC6A8 OAT HAPLN1 GATM GAMT
2 creatine deficiency syndromes 33.1 SLC6A8 GATM GAMT
3 cerebral creatine deficiency syndrome 1 32.8 SUOX SLC6A8 HAPLN1 GATM GAMT BCAP31
4 cerebral creatine deficiency syndrome 2 30.5 SUOX SLC6A8 SLC6A6 PNPO OAT HAPLN1
5 neurometabolic disease 10.2 SLC6A8 GATM GAMT
6 mitochondrial complex v deficiency, nuclear type 3 10.1 CKMT1B CKMT1A
7 gyrate atrophy of choroid and retina 10.0 OAT GATM GAMT
8 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.9 OTC OAT
9 citrullinemia, classic 9.9 OTC OAT
10 inherited metabolic disorder 9.9
11 l-arginine:glycine amidinotransferase deficiency 9.9
12 urea cycle disorder 9.9 SLC6A8 OTC
13 reye syndrome 9.9 OTC OAT
14 d-2-hydroxyglutaric aciduria 1 9.8 SUOX GAMT
15 orotic aciduria 9.7 OTC OAT
16 serine deficiency 9.7 SUOX PNPO
17 l-2-hydroxyglutaric aciduria 9.4 SUOX BTD
18 pyruvate dehydrogenase e1-alpha deficiency 9.4 SUOX SLC6A8
19 amino acid metabolic disorder 9.3 SLC6A8 OTC GATM GAMT BTD
20 phosphoserine aminotransferase deficiency 9.2 SUOX PNPO BTD
21 biotinidase deficiency 9.2 SUOX PNPO BTD
22 molybdenum cofactor deficiency 9.2 SUOX PNPO BTD
23 glycine encephalopathy 9.2 SUOX PNPO BTD
24 homocystinuria 9.2 SUOX OTC BTD
25 holocarboxylase synthetase deficiency 9.1 SUOX SLC6A8 PNPO BTD
26 multiple carboxylase deficiency 8.8 SUOX PNPO OTC BTD

Graphical network of the top 20 diseases related to Cerebral Creatine Deficiency Syndrome:



Diseases related to Cerebral Creatine Deficiency Syndrome

Symptoms & Phenotypes for Cerebral Creatine Deficiency Syndrome

MGI Mouse Phenotypes related to Cerebral Creatine Deficiency Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 BTD CKMT1B GAMT GATM HAPLN1 OAT
2 growth/size/body region MP:0005378 9.81 BTD CKMT1B GAMT GATM HAPLN1 OAT
3 pigmentation MP:0001186 9.26 BTD OAT OTC SLC6A8
4 renal/urinary system MP:0005367 9.1 BTD GAMT GATM OAT OTC SLC6A8

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome

Search Clinical Trials , NIH Clinical Center for Cerebral Creatine Deficiency Syndrome

Genetic Tests for Cerebral Creatine Deficiency Syndrome

Genetic tests related to Cerebral Creatine Deficiency Syndrome:

# Genetic test Affiliating Genes
1 Cerebral Creatine Deficiency Syndrome 29

Anatomical Context for Cerebral Creatine Deficiency Syndrome

MalaCards organs/tissues related to Cerebral Creatine Deficiency Syndrome:

40
Brain, Retina

Publications for Cerebral Creatine Deficiency Syndrome

Articles related to Cerebral Creatine Deficiency Syndrome:

# Title Authors PMID Year
1
Neuroimaging Spectrum of Inherited Neurotransmitter Disorders. 61
31634934 2020
2
A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study. 61
30635645 2019
3
A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging. 61
27466184 2016
4
A novel mouse model of creatine transporter deficiency. 61
25485098 2014
5
[Cerebral creatine deficiency syndromes]. 61
23534590 2012
6
[Advances in studies on cerebral creatine deficiency syndrome]. 61
21055267 2010
7
Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts. 61
16763899 2006

Variations for Cerebral Creatine Deficiency Syndrome

ClinVar genetic disease variations for Cerebral Creatine Deficiency Syndrome:

6 (show top 50) (show all 68) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GAMT NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)SNV Pathogenic 205584 rs370421531 19:1398963-1398963 19:1398964-1398964
2 GAMT NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)duplication Pathogenic 8302 rs80338736 19:1399807-1399808 19:1399808-1399809
3 GAMT NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)SNV Pathogenic 8303 rs80338734 19:1401417-1401417 19:1401418-1401418
4 GAMT NM_000156.6(GAMT):c.327G>A (p.Lys109=)SNV Pathogenic 21065 rs80338735 19:1399792-1399792 19:1399793-1399793
5 GAMT NM_000156.6(GAMT):c.316C>T (p.Gln106Ter)SNV Pathogenic 566624 rs1369786965 19:1399803-1399803 19:1399804-1399804
6 GAMT NM_000156.6(GAMT):c.391+1G>CSNV Likely pathogenic 664123 19:1399522-1399522 19:1399523-1399523
7 GAMT NM_000156.6(GAMT):c.471T>G (p.Phe157Leu)SNV Conflicting interpretations of pathogenicity 517082 rs372260609 19:1399014-1399014 19:1399015-1399015
8 GAMT NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)SNV Conflicting interpretations of pathogenicity 205593 rs141471799 19:1397399-1397399 19:1397400-1397400
9 GAMT NM_000156.6(GAMT):c.655G>A (p.Asp219Asn)SNV Conflicting interpretations of pathogenicity 205569 rs753228876 19:1397414-1397414 19:1397415-1397415
10 GAMT NM_000156.6(GAMT):c.587C>T (p.Ala196Val)SNV Conflicting interpretations of pathogenicity 205588 rs565109128 19:1397482-1397482 19:1397483-1397483
11 GAMT NM_000156.6(GAMT):c.314G>A (p.Arg105Gln)SNV Conflicting interpretations of pathogenicity 390894 rs148838075 19:1399805-1399805 19:1399806-1399806
12 GAMT NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)duplication Conflicting interpretations of pathogenicity 431959 rs779931959 19:1398963-1398964 19:1398964-1398965
13 GAMT NM_000156.6(GAMT):c.441C>A (p.His147Gln)SNV Uncertain significance 450331 rs1555777047 19:1399145-1399145 19:1399146-1399146
14 GAMT NM_000156.6(GAMT):c.473G>A (p.Arg158His)SNV Uncertain significance 478015 rs750195151 19:1399012-1399012 19:1399013-1399013
15 GAMT NM_000156.6(GAMT):c.553A>C (p.Ile185Leu)SNV Uncertain significance 478016 rs757108273 19:1398932-1398932 19:1398933-1398933
16 GAMT NM_000156.6(GAMT):c.407C>T (p.Thr136Met)SNV Uncertain significance 544257 rs374724533 19:1399179-1399179 19:1399180-1399180
17 GAMT NM_000156.6(GAMT):c.594G>A (p.Leu198=)SNV Uncertain significance 571372 rs1569003278 19:1397475-1397475 19:1397476-1397476
18 GAMT NM_000156.6(GAMT):c.150G>A (p.Met50Ile)SNV Uncertain significance 566179 rs1569008795 19:1401326-1401326 19:1401327-1401327
19 GAMT NM_000156.6(GAMT):c.119C>T (p.Pro40Leu)SNV Uncertain significance 569288 rs1222736128 19:1401357-1401357 19:1401358-1401358
20 GAMT NM_000156.6(GAMT):c.570+4C>TSNV Uncertain significance 582572 rs199967562 19:1398911-1398911 19:1398912-1398912
21 GAMT NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)SNV Uncertain significance 573140 rs774144200 19:1399183-1399183 19:1399184-1399184
22 GAMT NM_000156.6(GAMT):c.662G>A (p.Arg221His)SNV Uncertain significance 544254 rs766553422 19:1397407-1397407 19:1397408-1397408
23 GAMT NM_000156.6(GAMT):c.462C>G (p.Asn154Lys)SNV Uncertain significance 544260 rs748256259 19:1399023-1399023 19:1399024-1399024
24 GAMT NM_000156.6(GAMT):c.391+15G>TSNV Uncertain significance 544259 rs367567416 19:1399508-1399508 19:1399509-1399509
25 GAMT NM_000156.6(GAMT):c.167C>T (p.Ala56Val)SNV Uncertain significance 544255 rs575350720 19:1401309-1401309 19:1401310-1401310
26 GAMT NM_000156.6(GAMT):c.622C>T (p.Arg208Cys)SNV Uncertain significance 544261 rs778279369 19:1397447-1397447 19:1397448-1397448
27 GAMT NM_000156.6(GAMT):c.509A>G (p.Asn170Ser)SNV Uncertain significance 544253 rs202199674 19:1398976-1398976 19:1398977-1398977
28 GAMT NM_000156.6(GAMT):c.224C>T (p.Ala75Val)SNV Uncertain significance 544251 rs1441030187 19:1399895-1399895 19:1399896-1399896
29 GAMT NM_000156.6(GAMT):c.701C>T (p.Thr234Ile)SNV Uncertain significance 544252 rs1401966018 19:1397368-1397368 19:1397369-1397369
30 GAMT NM_000156.6(GAMT):c.530T>G (p.Leu177Arg)SNV Uncertain significance 544258 rs1555777015 19:1398955-1398955 19:1398956-1398956
31 GAMT NM_000156.6(GAMT):c.472C>T (p.Arg158Cys)SNV Uncertain significance 544256 rs758217156 19:1399013-1399013 19:1399014-1399014
32 GAMT NM_000156.6(GAMT):c.575C>T (p.Thr192Met)SNV Uncertain significance 205582 rs141066224 19:1397494-1397494 19:1397495-1397495
33 GAMT NM_000156.6(GAMT):c.227C>T (p.Ser76Leu)SNV Uncertain significance 195022 rs150338273 19:1399892-1399892 19:1399893-1399893
34 GAMT NM_000156.6(GAMT):c.707G>C (p.Gly236Ala)SNV Uncertain significance 205596 rs201029006 19:1397362-1397362 19:1397363-1397363
35 GAMT NM_000156.6(GAMT):c.689C>T (p.Thr230Met)SNV Uncertain significance 205595 rs776537906 19:1397380-1397380 19:1397381-1397381
36 GAMT NM_000156.6(GAMT):c.650C>T (p.Pro217Leu)SNV Uncertain significance 205592 rs139890971 19:1397419-1397419 19:1397420-1397420
37 GAMT NM_000156.6(GAMT):c.608G>A (p.Arg203Gln)SNV Uncertain significance 205590 rs376499506 19:1397461-1397461 19:1397462-1397462
38 GAMT NM_000156.6(GAMT):c.601G>A (p.Gly201Ser)SNV Uncertain significance 205589 rs540554423 19:1397468-1397468 19:1397469-1397469
39 GAMT NM_000156.6(GAMT):c.211A>G (p.Met71Val)SNV Uncertain significance 237120 rs372027428 19:1399908-1399908 19:1399909-1399909
40 GAMT NM_000156.6(GAMT):c.367A>G (p.Thr123Ala)SNV Uncertain significance 287314 rs771827261 19:1399547-1399547 19:1399548-1399548
41 GAMT NM_000156.6(GAMT):c.182G>A (p.Gly61Glu)SNV Uncertain significance 328350 rs77168423 19:1399937-1399937 19:1399938-1399938
42 GAMT NM_000156.6(GAMT):c.262_264ATC[1] (p.Ile89del)short repeat Uncertain significance 205607 rs750232484 19:1399852-1399854 19:1399853-1399855
43 GAMT NM_000156.6(GAMT):c.22C>A (p.Pro8Thr)SNV Uncertain significance 205598 rs776498025 19:1401454-1401454 19:1401455-1401455
44 GAMT NM_000156.6(GAMT):c.7G>A (p.Ala3Thr)SNV Uncertain significance 205574 rs574164748 19:1401469-1401469 19:1401470-1401470
45 GAMT NM_000156.6(GAMT):c.570+5G>ASNV Uncertain significance 640879 19:1398910-1398910 19:1398911-1398911
46 GAMT NM_000156.6(GAMT):c.460-7T>GSNV Uncertain significance 663022 19:1399032-1399032 19:1399033-1399033
47 GAMT NM_000156.6(GAMT):c.179A>G (p.Lys60Arg)SNV Uncertain significance 568865 rs1228556317 19:1401297-1401297 19:1401298-1401298
48 GAMT NM_000156.6(GAMT):c.562A>G (p.Met188Val)SNV Uncertain significance 572931 rs1366312192 19:1398923-1398923 19:1398924-1398924
49 GAMT NM_000156.6(GAMT):c.623G>A (p.Arg208His)SNV Uncertain significance 577478 rs767887772 19:1397446-1397446 19:1397447-1397447
50 GAMT NM_000156.6(GAMT):c.463C>T (p.His155Tyr)SNV Uncertain significance 569470 rs1374777721 19:1399022-1399022 19:1399023-1399023

Expression for Cerebral Creatine Deficiency Syndrome

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

Pathways for Cerebral Creatine Deficiency Syndrome

Pathways related to Cerebral Creatine Deficiency Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260
2 Arginine and proline metabolism hsa00330

Pathways related to Cerebral Creatine Deficiency Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 SUOX SLC6A8 PNPO OTC OAT GATM
2
Show member pathways
13.26 SUOX SLC6A8 OTC OAT GATM GAMT
3
Show member pathways
11.04 GATM GAMT
4
Show member pathways
10.78 OAT GATM GAMT CKMT1B CKMT1A
5
Show member pathways
10.64 OTC OAT GATM GAMT

GO Terms for Cerebral Creatine Deficiency Syndrome

Cellular components related to Cerebral Creatine Deficiency Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.46 OTC GATM CKMT1B CKMT1A
2 mitochondrial matrix GO:0005759 9.26 SUOX OTC OAT BTD
3 mitochondrion GO:0005739 9.17 SUOX OTC OAT GATM CKMT1B CKMT1A

Biological processes related to Cerebral Creatine Deficiency Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.37 OTC OAT
2 neurotransmitter transport GO:0006836 9.32 SLC6A8 SLC6A6
3 gamma-aminobutyric acid transport GO:0015812 9.26 SLC6A8 SLC6A6
4 phosphocreatine biosynthetic process GO:0046314 9.16 CKMT1B CKMT1A
5 creatine metabolic process GO:0006600 9.02 SLC6A8 GATM GAMT CKMT1B CKMT1A
6 creatine biosynthetic process GO:0006601 8.96 GATM GAMT

Molecular functions related to Cerebral Creatine Deficiency Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.85 OTC OAT GATM GAMT CKMT1B CKMT1A
2 neurotransmitter:sodium symporter activity GO:0005328 9.32 SLC6A8 SLC6A6
3 transferase activity, transferring phosphorus-containing groups GO:0016772 9.26 CKMT1B CKMT1A
4 neurotransmitter binding GO:0042165 9.16 SLC6A8 SLC6A6
5 gamma-aminobutyric acid:sodium symporter activity GO:0005332 8.96 SLC6A8 SLC6A6
6 creatine kinase activity GO:0004111 8.62 CKMT1B CKMT1A

Sources for Cerebral Creatine Deficiency Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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