Details of Disease

General Information of Disease (ID: DISN7IN9)

• Disease Name: Tibial aplasia-ectrodactyly syndrome
• Synonyms: split-hand/foot malformation with long bone deficiency; tibial aplasia with split-hand/split-foot deformity; ectrodactyly with aplasia of long bones; SHFLD; aplasia of tibia with ectrodactyly; SHFLD syndrome; split-hand/foot malformation associated with aplasia of long bones; aplasia of tibia with split-hand/split-foot deformity; SHFM associated with aplasia of long bones; split hand/foot malformation with long bone deficiency; TH-SHFM; tibial hemimelia with split hand/foot malformation; tibial hemimelia-ectrodactyly syndrome
• Definition: Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS3LICD: Congenital limb malformation
  DISHPNVX: Dysplasia
  DISN7IN9: Tibial aplasia-ectrodactyly syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0018050
  MESH ID: C536425
  UMLS CUI: C4551989
  MedGen ID: 1639878
  Orphanet ID: 3329
  SNOMED CT ID: 715531000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABR	OTZQK8JF	Limited	Biomarker	[1]
NPL	OTA7P0TO	Limited	Genetic Variation	[2]

References

• [1] The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.Am J Med Genet A. 2013 Aug;161A(8):1833-52. doi: 10.1002/ajmg.a.35996. Epub 2013 Jun 27.
• [2] Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.Am J Hum Genet. 2007 Jan;80(1):105-11. doi: 10.1086/510724. Epub 2006 Nov 29.