Details of Disease

General Information of Disease (ID: DISJMQ4T)

Disease Name Avascular necrosis of femoral head, primary, 1
Synonyms
ANFH1; osteonecrosis of femoral head; ischaemic necrosis of femoral head; femoral head, aseptic necrosis of; Femoral head, avascular necrosis of; ischemic necrosis of femoral head; avascular necrosis of femoral head, primary, 1; avascular necrosis of the femoral head
Disease Hierarchy
DIS8WIDY: Type 2 collagenopathy
DIS1X75T: Familial avascular necrosis of femoral head
DISJMQ4T: Avascular necrosis of femoral head, primary, 1
Disease Identifiers
MONDO ID
MONDO_0054550
UMLS CUI
C4551562
OMIM ID
608805
MedGen ID
1639295

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TRPV4 TTKP2SU Strong GermlineCausalMutation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL2A1 OT5E59C8 Strong Autosomal dominant [2]
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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 Relationship between somatic mutation and neoplastic transformation. Proc Natl Acad Sci U S A. 1978 Jul;75(7):3297-301. doi: 10.1073/pnas.75.7.3297.