Details of Disease

General Information of Disease (ID: DISCXVK3)

• Disease Name: Langer mesomelic dysplasia
• Synonyms: LMD; mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type; dyschondrosteosis, homozygous; mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type; Langer syndrome; mesomelic dwarfism, Langer type; Langer type mesomelic dysplasia; langer mesomelic dysplasia, pseudoautosomal recessive; Langer mesomelic dysplasia
• Definition: Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.
• Disease Hierarchy:
  DISKJI1E: Mesomelic dysplasia
  DIS5Z8U6: Skeletal dysplasia
  DISCXVK3: Langer mesomelic dysplasia
• Disease Identifiers:
  MONDO ID: MONDO_0009588
  MESH ID: C537267
  UMLS CUI: C0432230
  OMIM ID: 249700
  MedGen ID: 96585
  Orphanet ID: 2632
  SNOMED CT ID: 38494008

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
SLC52A2	TT6TKEN	Limited	Genetic Variation	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDE4DIP	OTS15WNF	Strong	Genetic Variation	[2]
TAS2R31	OTAI2M1L	Strong	Genetic Variation	[2]
SHOX	OTE0YZJO	Definitive	X-linked	[3]

References

• [1] Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.Am J Med Genet A. 2014 Feb;164A(2):505-10. doi: 10.1002/ajmg.a.36284. Epub 2013 Dec 5.
• [2] Recurrently Mutated Genes Differ between Leptomeningeal and Solid Lung Cancer Brain Metastases.J Thorac Oncol. 2018 Jul;13(7):1022-1027. doi: 10.1016/j.jtho.2018.03.018. Epub 2018 Mar 29.
• [3] Complete SHOX deficiency causes Langer mesomelic dysplasia. Am J Med Genet. 2002 Jun 15;110(2):158-63. doi: 10.1002/ajmg.10422.