Details of Disease

General Information of Disease (ID: DISN836E)

• Disease Name: Syndromic X-linked intellectual disability Snyder type
• Synonyms: X-linked intellectual disability, Snyder type; X-linked intellectual disability Snyder-Robinson type; X-linked mental retardation Snyder-Robinson type; mental retardation, X-linked, syndromic, Snyder-Robinson type; intellectual disability, X-linked, syndromic, Snyder-Robinson type; MRXSSR; Snyder-Robinson syndrome; Snyder-Robinson intellectual disability syndrome; syndromic X-linked intellectual disability Snyder type; SRS; Snyder-Robinson mental retardation syndrome; Snyder-Robinson Syndrome; intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, X-linked recessive; intellectual disability, X-linked, Snyder-Robinson type; spermine synthase deficiency; mental retardation, X-linked, Snyder-Robinson type
• Definition: Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.
• Disease Hierarchy:
  DISG1YOH: X-linked syndromic intellectual disability
  DISNFJES: Disorder of polyamine metabolism
  DISN836E: Syndromic X-linked intellectual disability Snyder type
• Disease Identifiers:
  MONDO ID: MONDO_0010664
  MESH ID: C536678
  UMLS CUI: C0796160
  OMIM ID: 309583
  MedGen ID: 162918
  Orphanet ID: 3063
  SNOMED CT ID: 702416008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HMGA2	TTSTVM0	Strong	Biomarker	[1]
IGF2	TTE8WGO	Strong	Biomarker	[2]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNIP1	OTGLGK1R	Limited	Biomarker	[3]
PLAG1	OTT9AJQY	Strong	Biomarker	[4]
SRM	OT4N5MDP	Strong	Genetic Variation	[5]
SMS	OT8JYKNH	Definitive	X-linked	[6]

References

• [1] A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.Gene. 2018 Jul 15;663:110-114. doi: 10.1016/j.gene.2018.04.027. Epub 2018 Apr 12.
• [2] Paternally Inherited IGF2 Mutation and Growth Restriction. N Engl J Med. 2015 Jul 23;373(4):349-56. doi: 10.1056/NEJMoa1415227. Epub 2015 Jul 8.
• [3] Saikosaponin A modulates remodeling of Kv4.2-mediated A-type voltage-gated potassium currents in rat chronic temporal lobe epilepsy.Drug Des Devel Ther. 2018 Sep 11;12:2945-2958. doi: 10.2147/DDDT.S166408. eCollection 2018.
• [4] Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.Genet Med. 2018 Feb;20(2):250-258. doi: 10.1038/gim.2017.105. Epub 2017 Aug 10.
• [5] Modeling Snyder-Robinson Syndrome in multipotent stromal cells reveals impaired mitochondrial function as a potential cause for deficient osteogenesis.Sci Rep. 2019 Oct 28;9(1):15395. doi: 10.1038/s41598-019-51868-5.
• [6] 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.