CCDS1
MCID: CRB151
MIFTS: 46

Cerebral Creatine Deficiency Syndrome 1 (CCDS1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Cerebral Creatine Deficiency Syndrome 1

Aliases & Descriptions for Cerebral Creatine Deficiency Syndrome 1:

Name: Cerebral Creatine Deficiency Syndrome 1 54 12 66
X-Linked Creatine Deficiency Syndrome 50 25 66 29
Creatine Transporter Deficiency 12 25 56 14
Slc6a8 Deficiency 12 25 56
X-Linked Creatine Transporter Deficiency 50 56
Creatine Deficiency, X-Linked 50 69
X-Linked Creatine Deficiency 50 25
Creatine Transporter Defect 25 66
Mental Retardation , X-Linked with Seizures, Short Stature and Midface Hypoplasia 50
X-Linked Mental Retardation with Seizures, Short Stature, and Midface Hypoplasia 66
Mental Retardation , X-Linked, with Creatine Transport Deficiency 50
X-Linked Mental Retardation with Creatine Transport Deficiency 66
Slc6a8-Related Creatine Transporter Deficiency 25
Creatine Deficiency Syndrome, X-Linked 13
Ccds1 66

Characteristics:

Orphanet epidemiological data:

56
x-linked creatine transporter deficiency
Inheritance: Not applicable,X-linked recessive; Age of onset: Childhood,Infancy; Age of death: adult;

HPO:

32
cerebral creatine deficiency syndrome 1:
Onset and clinical course infantile onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 300352
Disease Ontology 12 DOID:0050800
Orphanet 56 ORPHA52503
ICD10 via Orphanet 34 E72.8
MedGen 40 C1845862

Summaries for Cerebral Creatine Deficiency Syndrome 1

NIH Rare Diseases : 50 x-linked creatine deficiency is a rare condition that primarily affects the brain. signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. less commonly, affected people may have distinctive facial features, heart abnormalities, and gastrointestinal disorders. x-linked creatine deficiency is caused by changes (mutations) in the slc6a8 gene and is inherited in an x-linked manner. treatment with high doses of creatine monohydrate, l-arginine, and l-glycine has been used to treat some of the symptoms associated with x-linked creatine deficiency with variable success. last updated: 11/5/2015

MalaCards based summary : Cerebral Creatine Deficiency Syndrome 1, also known as x-linked creatine deficiency syndrome, is related to slc6a8-related creatine transporter deficiency and cerebral creatine deficiency syndrome 3, and has symptoms including ataxia, constipation and cachexia. An important gene associated with Cerebral Creatine Deficiency Syndrome 1 is SLC6A8 (Solute Carrier Family 6 Member 8), and among its related pathways/superpathways are Arginine and proline metabolism and Urea cycle and metabolism of amino groups. The drugs Cisplatin and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and adipose tissue

Genetics Home Reference : 25 X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may experience slow growth and exhibit delayed development of motor skills such as sitting and walking. Affected individuals tend to tire easily.

OMIM : 54 Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental... (300352) more...

UniProtKB/Swiss-Prot : 66 Cerebral creatine deficiency syndrome 1: An X-linked disorder of creatine transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment.

Related Diseases for Cerebral Creatine Deficiency Syndrome 1

Graphical network of the top 20 diseases related to Cerebral Creatine Deficiency Syndrome 1:



Diseases related to Cerebral Creatine Deficiency Syndrome 1

Symptoms & Phenotypes for Cerebral Creatine Deficiency Syndrome 1

Symptoms by clinical synopsis from OMIM:

300352

Clinical features from OMIM:

300352

Human phenotypes related to Cerebral Creatine Deficiency Syndrome 1:

56 32 (show top 50) (show all 53)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 constipation 56 32 Frequent (79-30%) HP:0002019
3 cachexia 56 32 Frequent (79-30%) HP:0004326
4 seizures 56 32 Very frequent (99-80%) HP:0001250
5 athetosis 56 32 Frequent (79-30%) HP:0002305
6 dystonia 56 32 Frequent (79-30%) HP:0001332
7 malar flattening 56 32 Frequent (79-30%) HP:0000272
8 ptosis 56 32 Occasional (29-5%) HP:0000508
9 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
10 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
11 chorea 56 32 Frequent (79-30%) HP:0002072
12 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
13 delayed speech and language development 56 32 Very frequent (99-80%) HP:0000750
14 microcephaly 56 32 Occasional (29-5%) HP:0000252
15 short stature 56 32 Frequent (79-30%) HP:0004322
16 hypertonia 56 32 Frequent (79-30%) HP:0001276
17 joint hyperflexibility 56 32 Occasional (29-5%) HP:0005692
18 mask-like facies 56 32 Occasional (29-5%) HP:0000298
19 aganglionic megacolon 56 32 Frequent (79-30%) HP:0002251
20 ileus 56 32 Frequent (79-30%) HP:0002595
21 open mouth 56 32 Frequent (79-30%) HP:0000194
22 redundant skin 56 32 Occasional (29-5%) HP:0001582
23 autistic behavior 56 32 Frequent (79-30%) HP:0000729
24 hyperactivity 56 32 Frequent (79-30%) HP:0000752
25 self-mutilation 56 32 Frequent (79-30%) HP:0000742
26 abnormality of creatine metabolism 56 32 Very frequent (99-80%) HP:0012113
27 vomiting 32 HP:0002013
28 spasticity 32 HP:0001257
29 gait disturbance 32 HP:0001288
30 failure to thrive 32 HP:0001508
31 mandibular prognathia 32 HP:0000303
32 neonatal hypotonia 32 HP:0001319
33 feeding difficulties in infancy 32 HP:0008872
34 stereotypy 32 HP:0000733
35 abnormality of metabolism/homeostasis 32 HP:0001939
36 attention deficit hyperactivity disorder 32 HP:0007018
37 pes cavus 32 HP:0001761
38 broad forehead 32 HP:0000337
39 impaired social interactions 32 HP:0000735
40 narrow face 32 HP:0000275
41 joint hypermobility 32 HP:0001382
42 long face 32 HP:0000276
43 aggressive behavior 32 HP:0000718
44 midface retrusion 32 HP:0011800
45 tall stature 32 HP:0000098
46 motor delay 32 HP:0001270
47 myopathic facies 32 HP:0002058
48 hypoplasia of the corpus callosum 32 HP:0002079
49 exotropia 32 HP:0000577
50 hypermetropia 32 HP:0000540

UMLS symptoms related to Cerebral Creatine Deficiency Syndrome 1:


constipation, muscle spasticity, seizures, vomiting

GenomeRNAi Phenotypes related to Cerebral Creatine Deficiency Syndrome 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.58 SLC6A8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.58 SLC6A8
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.58 SLC6A8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.58 GAMT
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.58 SLC6A8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.58 SLC6A8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.58 GAMT
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.58 GAMT
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.58 GAMT
10 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.58 SLC6A8
11 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.58 GAMT
12 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.58 GAMT SLC6A8
13 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.58 SLC6A8
14 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.58 GAMT
15 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.58 GAMT
16 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.58 GAMT SLC6A8

MGI Mouse Phenotypes related to Cerebral Creatine Deficiency Syndrome 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.26 FABP3 GAMT GATM SLC6A8
2 behavior/neurological MP:0005386 9.02 FABP3 GAMT GATM MAOA SLC6A8

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome 1

Drugs for Cerebral Creatine Deficiency Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
2
Fluorouracil Approved Phase 2 51-21-8 3385
3
Docetaxel Approved May 1996, Investigational Phase 2 114977-28-5 148124 9877265
4 Antimitotic Agents Phase 2
5
Telmisartan Approved, Investigational Phase 1 144701-48-4 65999
6
Angiotensin II Phase 1 68521-88-0, 11128-99-7 65143 172198
7 Angiotensin II Type 1 Receptor Blockers Phase 1
8 Angiotensin Receptor Antagonists Phase 1
9 Angiotensinogen Phase 1
10 Antihypertensive Agents Phase 1
11
Creatine Approved, Nutraceutical 57-00-1 586

Interventional clinical trials:


id Name Status NCT ID Phase
1 Cyclin D1 Based TPF Induction Chemotherapy for Oral Squamous Cell Carcinoma Patients at Clinical N2 Stage Not yet recruiting NCT02290145 Phase 2
2 Analysis of Telmisartan Administered With Antiretroviral Therapy (ART) in Patients With Acute HIV Infection Recruiting NCT02170246 Phase 1
3 Assessment of the HIV CNS Reservoir, Neurological and Neuro-cognitive Effects, and Source of Rebound HIV in CNS Completed NCT02470351
4 Observational Study of Males With Creatine Transporter Deficiency Recruiting NCT02931682
5 Biomarker for Creatine Deficiency Syndromes Recruiting NCT02934854

Search NIH Clinical Center for Cerebral Creatine Deficiency Syndrome 1

Genetic Tests for Cerebral Creatine Deficiency Syndrome 1

Genetic tests related to Cerebral Creatine Deficiency Syndrome 1:

id Genetic test Affiliating Genes
1 Creatine Deficiency, X-Linked 29

Anatomical Context for Cerebral Creatine Deficiency Syndrome 1

MalaCards organs/tissues related to Cerebral Creatine Deficiency Syndrome 1:

39
Brain, Heart, Skin, Eye

Publications for Cerebral Creatine Deficiency Syndrome 1

Variations for Cerebral Creatine Deficiency Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Cerebral Creatine Deficiency Syndrome 1:

66 (show all 12)
id Symbol AA change Variation ID SNP ID
1 SLC6A8 p.Gly87Arg VAR_020525 rs122453115
2 SLC6A8 p.Gly381Arg VAR_020526 rs122453114
3 SLC6A8 p.Pro390Leu VAR_020527
4 SLC6A8 p.Pro554Leu VAR_020529 rs397515559
5 SLC6A8 p.Gly132Val VAR_063707 rs122453117
6 SLC6A8 p.Cys337Trp VAR_063708 rs122453116
7 SLC6A8 p.Cys491Trp VAR_063709 rs122453118
8 SLC6A8 p.Tyr80His VAR_071791
9 SLC6A8 p.Gly383Cys VAR_071792
10 SLC6A8 p.Ala448Asp VAR_071793
11 SLC6A8 p.Val539Ile VAR_071794 rs782354054
12 SLC6A8 p.Arg391Trp VAR_075566

ClinVar genetic disease variations for Cerebral Creatine Deficiency Syndrome 1:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC6A8 NM_005629.3(SLC6A8): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs122453113 GRCh37 Chromosome X, 152960032: 152960032
2 SLC6A8 NM_005629.3(SLC6A8): c.1141G> C (p.Gly381Arg) single nucleotide variant Pathogenic rs122453114 GRCh37 Chromosome X, 152959041: 152959041
3 SLC6A8 NM_005629.3(SLC6A8): c.1222_1224delTTC (p.Phe408del) deletion Pathogenic rs80338740 GRCh37 Chromosome X, 152959440: 152959442
4 SLC6A8 SLC6A8, 1-BP INS, 950A insertion Pathogenic
5 SLC6A8 NM_005629.3(SLC6A8): c.259G> A (p.Gly87Arg) single nucleotide variant Pathogenic rs122453115 GRCh37 Chromosome X, 152954288: 152954288
6 SLC6A8 SLC6A8, IVS1AS, A-G, -2 single nucleotide variant Pathogenic
7 SLC6A8 NM_005629.3(SLC6A8): c.1011C> G (p.Cys337Trp) single nucleotide variant Pathogenic rs122453116 GRCh37 Chromosome X, 152958816: 152958816
8 SLC6A8 NM_005629.3(SLC6A8): c.395G> T (p.Gly132Val) single nucleotide variant Pathogenic rs122453117 GRCh37 Chromosome X, 152956759: 152956759
9 SLC6A8 NM_005629.3(SLC6A8): c.1473C> G (p.Cys491Trp) single nucleotide variant Pathogenic rs122453118 GRCh37 Chromosome X, 152959879: 152959879
10 SLC6A8 SLC6A8, 3-BP DEL, 1006AAC deletion Pathogenic
11 SLC6A8 NM_005629.3(SLC6A8): c.321_323delCTT (p.Phe107del) deletion Pathogenic rs80338739 GRCh37 Chromosome X, 152955888: 152955890
12 SLC6A8 NM_005629.3(SLC6A8): c.1631C> T (p.Pro544Leu) single nucleotide variant Pathogenic rs397515558 GRCh37 Chromosome X, 152960208: 152960208
13 SLC6A8 NM_005629.3(SLC6A8): c.1661C> T (p.Pro554Leu) single nucleotide variant Pathogenic rs397515559 GRCh37 Chromosome X, 152960238: 152960238
14 SLC6A8 NM_005629.3(SLC6A8): c.974_975delCA (p.Thr325Serfs) deletion Pathogenic rs1060502808 GRCh38 Chromosome X, 153693324: 153693325

Expression for Cerebral Creatine Deficiency Syndrome 1

Search GEO for disease gene expression data for Cerebral Creatine Deficiency Syndrome 1.

Pathways for Cerebral Creatine Deficiency Syndrome 1

Pathways related to Cerebral Creatine Deficiency Syndrome 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.89 GAMT GATM MAOA
2
Show member pathways
10.54 GAMT GATM
3
Show member pathways
10.52 GAMT GATM MAOA

GO Terms for Cerebral Creatine Deficiency Syndrome 1

Biological processes related to Cerebral Creatine Deficiency Syndrome 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.16 GAMT SLC6A8
2 creatine biosynthetic process GO:0006601 8.96 GAMT GATM
3 creatine metabolic process GO:0006600 8.8 GAMT GATM SLC6A8

Sources for Cerebral Creatine Deficiency Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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