Details of Disease

General Information of Disease (ID: DISZYHCB)

• Disease Name: 2q37 microdeletion syndrome
• Synonyms: chromosome 2q37 deletion syndrome; 2q37 deletion syndrome; brachydactyly-mental retardation syndrome; deletion 2q37; Albright hereditary osteodystrophy type 3; deletion 2q37-qter; BDMR; brachydactyly intellectual disability syndrome; 2q37 monosomy; Del(2)(q37); brachydactyly mental retardation syndrome; Albright hereditary osteodystrophy-like syndrome; monosomy 2q37-qter; brachydactyly-intellectual disability syndrome; 2q37 microdeletion syndrome
• Definition: A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
• Disease Hierarchy:
  DIS1DD8C: Syndrome caused by partial chromosomal deletion
  DIS3LICD: Congenital limb malformation
  DISUP4LN: Partial deletion of the long arm of chromosome 2
  DIS5Z8U6: Skeletal dysplasia
  DISZYHCB: 2q37 microdeletion syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010886
  MESH ID: C538317
  UMLS CUI: C2931817
  OMIM ID: 600430
  MedGen ID: 419169
  Orphanet ID: 1001
  SNOMED CT ID: 702357000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GPR35	TT254XD	Strong	Genetic Variation	[1]
HDAC4	TTTQGH8	Strong	Biomarker	[2]
PASK	TTC0V1J	Strong	Biomarker	[3]
HDAC4	TTTQGH8	Definitive	Autosomal dominant	[4]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SHOX	OTE0YZJO	moderate	Genetic Variation	[5]
FARP2	OTNRQIMK	Strong	Biomarker	[3]
HDLBP	OTKDEEYX	Strong	Biomarker	[3]
HDAC4	OTQNGD32	Definitive	Autosomal dominant	[4]

References

• [1] Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.Clin Genet. 2004 Dec;66(6):537-44. doi: 10.1111/j.1399-0004.2004.00363.x.
• [2] Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.Am J Med Genet A. 2019 May;179(5):782-791. doi: 10.1002/ajmg.a.61089. Epub 2019 Mar 7.
• [3] FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome.Am J Med Genet A. 2009 May;149A(5):952-9. doi: 10.1002/ajmg.a.32779.
• [4] Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet. 2010 Aug 13;87(2):219-28. doi: 10.1016/j.ajhg.2010.07.011.
• [5] HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.Cytogenet Genome Res. 2019;157(3):135-140. doi: 10.1159/000499174. Epub 2018 Mar 26.