Details of Disease

General Information of Disease (ID: DISFHG81)

• Disease Name: Partial trisomy of the long arm of chromosome 5
• Synonyms: 5q duplication; partial trisomy 5q; chromosome 5q duplication; Duplication 5q; trisomy 5q; 5q trisomy; partial duplication of chromosome 5q; partial trisomy of chromosome 5q; partial duplication of the long arm of chromosome 5; partial trisomy of the long arm of chromosome type 5
• Definition: Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.
• Disease Hierarchy:
  DISPKU5I: Syndrome caused by partial chromosomal duplication
  :
  DISFHG81: Partial trisomy of the long arm of chromosome 5
• Disease Identifiers:
  MONDO ID: MONDO_0016956
  MESH ID: C537650
  UMLS CUI: C1802398
  MedGen ID: 315659
  Orphanet ID: 262869

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSNK1A1	TTFQEMX	moderate	Altered Expression	[1]
LARP1	TTSN1YP	moderate	Altered Expression	[2]
CD74	TTCMYP9	Strong	Genetic Variation	[3]
CSF1R	TT7MRDV	Strong	Genetic Variation	[4]
FGF1	TTMY81X	Strong	Biomarker	[5]
GLRA1	TTF45NW	Strong	Biomarker	[6]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATOX1	OT05LF59	moderate	Biomarker	[7]
KLF1	OT1FK08U	moderate	Altered Expression	[8]
SH3TC2	OTJ6XY2A	moderate	Genetic Variation	[6]
MSX2	OT1WDKE1	Strong	Biomarker	[9]
RARS1	OTHPZ6JN	Strong	Biomarker	[10]
RPS14	OTB90KV5	Strong	Biomarker	[1]

References

• [1] Rps14, Csnk1a1 and miRNA145/miRNA146a deficiency cooperate in the clinical phenotype and activation of the innate immune system in the 5q- syndrome.Leukemia. 2019 Jul;33(7):1759-1772. doi: 10.1038/s41375-018-0350-3. Epub 2019 Jan 16.
• [2] Autogenous Control of 5TOP mRNA Stability by 40S Ribosomes.Mol Cell. 2017 Jul 6;67(1):55-70.e4. doi: 10.1016/j.molcel.2017.06.005. Epub 2017 Jun 29.
• [3] 5q- syndrome.Curr Pharm Des. 2012;18(22):3180-3. doi: 10.2174/1381612811209023180.
• [4] Allelic loss of the FMS gene in acute myeloid leukaemia.Leuk Res. 1997 Oct;21(10):919-23. doi: 10.1016/s0145-2126(97)00024-6.
• [5] Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome.Genes Chromosomes Cancer. 1998 Jul;22(3):251-6. doi: 10.1002/(sici)1098-2264(199807)22:3<251::aid-gcc11>3.0.co;2-r.
• [6] Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays.Haematologica. 2008 Jul;93(7):994-1000. doi: 10.3324/haematol.12603. Epub 2008 May 27.
• [7] Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene.Hum Genet. 2000 Jan;106(1):127-9. doi: 10.1007/s004399900215.
• [8] Transcription factors Fli1 and EKLF in the differentiation of megakaryocytic and erythroid progenitor in 5q- syndrome and in Diamond-Blackfan anemia.Ann Hematol. 2013 Jan;92(1):11-8. doi: 10.1007/s00277-012-1568-1. Epub 2012 Sep 11.
• [9] Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.BMC Med Genet. 2013 Jan 24;14:13. doi: 10.1186/1471-2350-14-13.
• [10] Presence of peripheral blasts in refractory anemia and refractory cytopenia with multilineage dysplasia predicts an unfavourable outcome.Leuk Res. 2008 Jan;32(1):33-7. doi: 10.1016/j.leukres.2007.02.021. Epub 2007 Apr 6.