Details of Disease

General Information of Disease (ID: DIS1X75T)

• Disease Name: Familial avascular necrosis of femoral head
• Synonyms: avascular NECROSIS of femoral head, primary, 1; avascular Necrosis of femoral head, primary, 1; femoral head, aseptic Necrosis of; ANFH1; primary avascular necrosis of the femoral head; familial avascular necrosis of the femoral head; osteonecrosis of femoral head; ischemic Necrosis of femoral head; ANFH; avascular NECROSIS of femoral head, primary; femoral head, avascular Necrosis of; ischaemic Necrosis of femoral head; aseptic Necrosis of femoral head; aseptic Necrosis of head of femur; familial osteonecrosis of the femoral head
• Definition: Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.
• Disease Hierarchy:
  DISKV001: Osteonecrosis of genetic origin
  DISYSRGS: Primary avascular necrosis
  DIS1X75T: Familial avascular necrosis of femoral head
• Disease Identifiers:
  MONDO ID: MONDO_0012126
  UMLS CUI: C4275066
  MedGen ID: 909851
  Orphanet ID: 86820
  SNOMED CT ID: 715657008

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
TRPV4	TTKP2SU	Supportive	Autosomal dominant	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL2A1	OT5E59C8	Supportive	Autosomal dominant	[2]
TRPV4	OTPZKQLX	Supportive	Autosomal dominant	[1]

References

• [1] Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head. J Med Genet. 2016 Oct;53(10):705-9. doi: 10.1136/jmedgenet-2016-103829. Epub 2016 Jun 21.
• [2] Type II collagen gene variants and inherited osteonecrosis of the femoral head. N Engl J Med. 2005 Jun 2;352(22):2294-301. doi: 10.1056/NEJMoa042480.