MCID: CRB151
MIFTS: 34

Cerebral Creatine Deficiency Syndrome 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Mental diseases categories

Aliases & Classifications for Cerebral Creatine Deficiency Syndrome 1

About this section

Cerebral Creatine Deficiency Syndrome 1, Aliases & Descriptions:

Name: Cerebral Creatine Deficiency Syndrome 1 45
X-Linked Creatine Deficiency Syndrome 41 21 22
X-Linked Creatine Transporter Deficiency 41 47
Creatine Transporter Deficiency 21 47
Creatine Deficiency, X-Linked 41 60
X-Linked Creatine Deficiency 41 21
Slc6a8 Deficiency 21 47
 
Mental Retardation , X-Linked with Seizures, Short Stature and Midface Hypoplasia 41
X-Linked Intellectual Disability - Seizures - Short Stature - Midface Hypoplasia 41
Mental Retardation , X-Linked, with Creatine Transport Deficiency 41
Slc6a8-Related Creatine Transporter Deficiency 21
Creatine Deficiency Syndrome, X-Linked 10
Creatine Transporter Defect 21
Crtr-D 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
x-linked creatine transporter deficiency:
Inheritance: Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: adult


External Ids:

OMIM45 300352
Orphanet47 52503
ICD10 via Orphanet26 E72.8

Summaries for Cerebral Creatine Deficiency Syndrome 1

About this section


Genetics Home Reference:21 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.

MalaCards based summary: Cerebral Creatine Deficiency Syndrome 1, also known as x-linked creatine deficiency syndrome, is related to cerebritis and mitochondrial disorders, and has symptoms including abnormality of metabolism/homeostasis, neurological speech impairment and cognitive impairment. An important gene associated with Cerebral Creatine Deficiency Syndrome 1 is SLC6A8 (solute carrier family 6 (neurotransmitter transporter), member 8). Affiliated tissues include brain, skin and eye.

OMIM:45 Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental... (300352) more...

Wikipedia:63 Creatine transporter defect (CTD) is an X-linked disorder of creatine metabolism caused by defective... more...

Related Diseases for Cerebral Creatine Deficiency Syndrome 1

About this section

Diseases related to Cerebral Creatine Deficiency Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cerebritis10.4
2mitochondrial disorders10.4
3mental retardation10.4
4creatine transporter deficiency10.3
5creatine deficiency syndromes10.2
6slc6a8-related creatine transporter deficiency10.2
7hyperhomocysteinemia10.2
8autism spectrum disorder10.2
9developmental disabilities10.2

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



Diseases related to cerebral creatine deficiency syndrome 1

Symptoms for Cerebral Creatine Deficiency Syndrome 1

About this section

Symptoms by clinical synopsis from OMIM:

300352

Clinical features from OMIM:

300352

Symptoms:

 47 (show all 24)
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • metabolic anomalies
  • x-linked recessive inheritance
  • flat cheek bones/malar hypoplasia
  • mouth held open
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • constipation
  • intestinal obstruction/ileus
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • dystonia/torticollis/writer's cramp/blepharospasms
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autism/autistic disoders
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism
  • microcephaly
  • expressionless face/amimia
  • ptosis
  • loose skin/skin relaxation/excess skin/creases
  • hyperextensible joints/articular hyperlaxity

HPO human phenotypes related to Cerebral Creatine Deficiency Syndrome 1:

(show all 62)
id Description Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
2 neurological speech impairment hallmark (90%) HP:0002167
3 cognitive impairment hallmark (90%) HP:0100543
4 open mouth typical (50%) HP:0000194
5 autism typical (50%) HP:0000717
6 seizures typical (50%) HP:0001250
7 muscular hypotonia typical (50%) HP:0001252
8 hypertonia typical (50%) HP:0001276
9 constipation typical (50%) HP:0002019
10 aganglionic megacolon typical (50%) HP:0002251
11 incoordination typical (50%) HP:0002311
12 short stature typical (50%) HP:0004322
13 decreased body weight typical (50%) HP:0004325
14 intestinal obstruction typical (50%) HP:0005214
15 cheekbone underdevelopment typical (50%) HP:0010669
16 abnormality of movement typical (50%) HP:0100022
17 microcephaly occasional (7.5%) HP:0000252
18 mask-like facies occasional (7.5%) HP:0000298
19 ptosis occasional (7.5%) HP:0000508
20 cutis laxa occasional (7.5%) HP:0000973
21 joint hypermobility occasional (7.5%) HP:0001382
22 tall stature HP:0000098
23 microcephaly HP:0000252
24 malar flattening HP:0000272
25 narrow face HP:0000275
26 long face HP:0000276
27 mandibular prognathia HP:0000303
28 broad forehead HP:0000337
29 ptosis HP:0000508
30 hypermetropia HP:0000540
31 exotropia HP:0000577
32 aggressive behavior HP:0000718
33 stereotypic behavior HP:0000733
34 impaired social interactions HP:0000735
35 delayed speech and language development HP:0000750
36 intellectual disability HP:0001249
37 seizures HP:0001250
38 spasticity HP:0001257
39 global developmental delay HP:0001263
40 motor delay HP:0001270
41 gait disturbance HP:0001288
42 neonatal hypotonia HP:0001319
43 dystonia HP:0001332
44 joint hypermobility HP:0001382
45 x-linked recessive inheritance HP:0001419
46 failure to thrive HP:0001508
47 pes cavus HP:0001761
48 abnormality of metabolism/homeostasis HP:0001939
49 vomiting HP:0002013
50 constipation HP:0002019
51 myopathic facies HP:0002058
52 hypoplasia of the corpus callosum HP:0002079
53 aganglionic megacolon HP:0002251
54 ileus HP:0002595
55 infantile onset HP:0003593
56 short stature HP:0004322
57 attention deficit hyperactivity disorder HP:0007018
58 poor hand-eye coordination HP:0007057
59 underfolded superior helices HP:0008583
60 feeding difficulties in infancy HP:0008872
61 midface retrusion HP:0011800
62 delayed myelination HP:0012448

Drugs & Therapeutics for Cerebral Creatine Deficiency Syndrome 1

About this section

Drug clinical trials:

Search ClinicalTrials for Cerebral Creatine Deficiency Syndrome 1

Search NIH Clinical Center for Cerebral Creatine Deficiency Syndrome 1

Genetic Tests for Cerebral Creatine Deficiency Syndrome 1

About this section

Genetic tests related to Cerebral Creatine Deficiency Syndrome 1:

id Genetic test Affiliating Genes
1 Creatine Deficiency, X-Linked22

Anatomical Context for Cerebral Creatine Deficiency Syndrome 1

About this section

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

31
Brain, Skin, Eye, Bone

Animal Models for Cerebral Creatine Deficiency Syndrome 1 or affiliated genes

About this section

Publications for Cerebral Creatine Deficiency Syndrome 1

About this section

Variations for Cerebral Creatine Deficiency Syndrome 1

About this section

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

62 (show all 11)
id Symbol AA change Variation ID SNP ID
1SLC6A8p.Gly87ArgVAR_020525
2SLC6A8p.Gly381ArgVAR_020526
3SLC6A8p.Pro390LeuVAR_020527
4SLC6A8p.Pro554LeuVAR_020529
5SLC6A8p.Gly132ValVAR_063707
6SLC6A8p.Cys337TrpVAR_063708
7SLC6A8p.Cys491TrpVAR_063709
8SLC6A8p.Tyr80HisVAR_071791
9SLC6A8p.Gly383CysVAR_071792
10SLC6A8p.Ala448AspVAR_071793
11SLC6A8p.Val539IleVAR_071794

Clinvar genetic disease variations for Cerebral Creatine Deficiency Syndrome 1:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC6A8NM_005629.3(SLC6A8): c.1540C> T (p.Arg514Ter)single nucleotide variantPathogenicrs122453113GRCh37Chr X, 152960032: 152960032
2SLC6A8NM_005629.3(SLC6A8): c.1141G> C (p.Gly381Arg)single nucleotide variantPathogenicrs122453114GRCh37Chr X, 152959041: 152959041
3SLC6A8NM_005629.3(SLC6A8): c.1222_1224delTTC (p.Phe408del)deletionPathogenicrs80338740GRCh37Chr X, 152959440: 152959442
4SLC6A8SLC6A8, 1-BP INS, 950AinsertionPathogenic
5SLC6A8NM_005629.3(SLC6A8): c.259G> A (p.Gly87Arg)single nucleotide variantPathogenicrs122453115GRCh37Chr X, 152954288: 152954288
6SLC6A8SLC6A8, IVS1AS, A-G, -2single nucleotide variantPathogenic
7SLC6A8NM_005629.3(SLC6A8): c.1011C> G (p.Cys337Trp)single nucleotide variantPathogenicrs122453116GRCh37Chr X, 152958816: 152958816
8SLC6A8NM_005629.3(SLC6A8): c.395G> T (p.Gly132Val)single nucleotide variantPathogenicrs122453117GRCh37Chr X, 152956759: 152956759
9SLC6A8NM_005629.3(SLC6A8): c.1473C> G (p.Cys491Trp)single nucleotide variantPathogenicrs122453118GRCh37Chr X, 152959879: 152959879
10SLC6A8SLC6A8, 3-BP DEL, 1006AACdeletionPathogenic
11SLC6A8NM_005629.3(SLC6A8): c.321_323delCTT (p.Phe107del)deletionPathogenicrs80338739GRCh37Chr X, 152955888: 152955890
12SLC6A8NM_005629.3(SLC6A8): c.1631C> T (p.Pro544Leu)single nucleotide variantPathogenicrs397515558GRCh37Chr X, 152960208: 152960208
13SLC6A8NM_005629.3(SLC6A8): c.1661C> T (p.Pro554Leu)single nucleotide variantPathogenicrs397515559GRCh37Chr X, 152960238: 152960238

Expression for genes affiliated with Cerebral Creatine Deficiency Syndrome 1

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

Pathways for genes affiliated with Cerebral Creatine Deficiency Syndrome 1

About this section

Compounds for genes affiliated with Cerebral Creatine Deficiency Syndrome 1

About this section

GO Terms for genes affiliated with Cerebral Creatine Deficiency Syndrome 1

About this section

Products for genes affiliated with Cerebral Creatine Deficiency Syndrome 1

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

Sources for Cerebral Creatine Deficiency Syndrome 1

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet