Details of Disease

General Information of Disease (ID: DIS8FWNV)

• Disease Name: Creatine transporter deficiency
• Synonyms: creatine deficiency syndrome, X-linked; CCDS1; intellectual disability, X-linked, with creatine Transport deficiency; mental retardation, X-linked, with seizures, short stature, and midface hypoplasia; intellectual disability, X-linked, with creatine transport deficiency; X-linked creatine transporter deficiency; X-linked creatine deficiency syndrome; mental retardation, X-linked with seizures, short stature and midface hypoplasia; intellectual disability, X-linked with seizures, short stature and midface hypoplasia; creatine transporter defect; intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia; mental retardation, X-linked, with creatine transport deficiency; mental retardation, X-linked, with creatine Transport deficiency; X-linked creatine deficiency; creatine deficiency, X-linked; creatine transporter deficiency; cerebral creatine deficiency syndrome 1; SLC6A8 deficiency; cerebral creatine deficiency syndrome type 1; cerebral creatine deficiency syndrome 1, X-linked recessive
• Definition: X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISQDMKF: Cerebral creatine deficiency syndrome
  DISMFQKM: Developmental anomaly of metabolic origin
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS8FWNV: Creatine transporter deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0010305
  MESH ID: C535598
  UMLS CUI: C1845862
  OMIM ID: 300352
  MedGen ID: 337451
  Orphanet ID: 52503
  SNOMED CT ID: 698290008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC6A8	TTYUHB5	Definitive	Genetic Variation	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC6A8	DTPKTHL	Definitive	X-linked	[2]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POU3F3	OT6BBXPD	Limited	Biomarker	[3]
GAMT	OTVC87ES	Strong	Biomarker	[4]
GATM	OTIJ4Z11	Strong	Biomarker	[5]
SLC6A8	OT88C8JA	Definitive	X-linked	[2]

References

• [1] Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.Neuropharmacology. 2019 Dec 15;161:107572. doi: 10.1016/j.neuropharm.2019.03.015. Epub 2019 Mar 15.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [3] Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness.Mol Genet Metab. 2012 May;106(1):43-7. doi: 10.1016/j.ymgme.2012.02.018. Epub 2012 Mar 5.
• [4] Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.Semin Neurol. 2014 Jul;34(3):350-6. doi: 10.1055/s-0034-1386772. Epub 2014 Sep 5.
• [5] Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.Int J Mol Sci. 2017 Jul 31;18(8):1665. doi: 10.3390/ijms18081665.