Familial avascular necrosis of femoral head

General Information (adopted from Orphanet):

Synonyms, Signs: ISCHEMIC NECROSIS OF FEMORAL HEAD
FEMORAL HEAD, ASEPTIC NECROSIS OF
OSTEONECROSIS OF FEMORAL HEAD
FEMORAL HEAD, AVASCULAR NECROSIS OF
ANFH
Familial osteonecrosis of the femoral head
Number of Symptoms 2
OrphanetNr: 86820
OMIM Id: 608805
ICD-10: M87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Type 2 collagen-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0005743) Avascular necrosis of the capital femoral epiphysis 17 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life (Mont and Hungerford, 1995). The disorder is characterized by progressive ...
Molecular genetics OMIM Liu et al. (2005) identified 3 families in which there was autosomal dominant inheritance of ANFH, with mapping of the phenotype to 12q13. They carried out haplotype analysis in the families, selected candidate genes in the critical interval ...