MCID: FML048
MIFTS: 17

Familial Avascular Necrosis of the Femoral Head

Categories: Rare diseases, Bone diseases, Genetic diseases

Aliases & Classifications for Familial Avascular Necrosis of the Femoral Head

MalaCards integrated aliases for Familial Avascular Necrosis of the Femoral Head:

Name: Familial Avascular Necrosis of the Femoral Head 53
Familial Osteonecrosis of the Femoral Head 53 59
Primary Avascular Necrosis of the Femoral Head 53
Familial Avascular Necrosis of Femoral Head 59

Characteristics:

Orphanet epidemiological data:

59
familial avascular necrosis of femoral head
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United States); Age of onset: Adult;

Classifications:

Orphanet: 59  
Rare bone diseases


External Ids:

Orphanet 59 ORPHA86820
ICD10 via Orphanet 34 M87.8

Summaries for Familial Avascular Necrosis of the Femoral Head

NIH Rare Diseases : 53 Avascular necrosis of the femoral head (ANFH) is a degenerative condition which causes the upper ends of the thigh bones (femurs) to break down due to an inadequate blood supply and deficient bone repair. It can lead to pain and limping and cause the legs to be of unequal length. The prevalence of ANFH is unknown but around 15,000 cases are reported each year in the United States, with most cases being associated with mechanical disruption (hip trauma or surgery), hypofibrinolysis (a reduced ability to dissolve clots), steroid use, smoking, alcohol intake, hemoglobinopathies and hyperlipidemia (an increase in the amount of fat - such as cholesterol and triglycerides - in the blood). Familial forms of ANFH appear to be very rare, with only a few families reported in the medical literature. Age of onset in these familial cases ranges from 15-48 years (as opposed to between 3rd to 5th decade of life for other forms of ANFH). Transmission in familial cases is autosomal dominant and mutations in the type II collagen gene (COL2A1) have been detected in affected family members.

MalaCards based summary : Familial Avascular Necrosis of the Femoral Head, also known as familial osteonecrosis of the femoral head, is related to avascular necrosis of femoral head, primary, 1 and achondrogenesis, type ii. An important gene associated with Familial Avascular Necrosis of the Femoral Head is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone, and related phenotype is hearing/vestibular/ear.

Related Diseases for Familial Avascular Necrosis of the Femoral Head

Diseases in the Familial Avascular Necrosis of the Femoral Head family:

Avascular Necrosis of Femoral Head, Primary, 1 Avascular Necrosis of Femoral Head, Primary, 2

Diseases related to Familial Avascular Necrosis of the Femoral Head via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 avascular necrosis of femoral head, primary, 1 10.0
2 achondrogenesis, type ii 9.6 COL2A1 TRPV4
3 hypochondrogenesis 9.6 COL2A1 TRPV4
4 kniest dysplasia 9.5 COL2A1 TRPV4
5 brachyolmia 9.5 COL2A1 TRPV4
6 metaphyseal chondrodysplasia, jansen type 9.4 COL2A1 TRPV4
7 skeletal dysplasias 9.3 COL2A1 TRPV4
8 brachydactyly 9.2 COL2A1 TRPV4
9 trehalase deficiency 9.0 COL2A1 TRPV4

Graphical network of the top 20 diseases related to Familial Avascular Necrosis of the Femoral Head:



Diseases related to Familial Avascular Necrosis of the Femoral Head

Symptoms & Phenotypes for Familial Avascular Necrosis of the Femoral Head

MGI Mouse Phenotypes related to Familial Avascular Necrosis of the Femoral Head:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 COL2A1 TRPV4

Drugs & Therapeutics for Familial Avascular Necrosis of the Femoral Head

Search Clinical Trials , NIH Clinical Center for Familial Avascular Necrosis of the Femoral Head

Genetic Tests for Familial Avascular Necrosis of the Femoral Head

Anatomical Context for Familial Avascular Necrosis of the Femoral Head

MalaCards organs/tissues related to Familial Avascular Necrosis of the Femoral Head:

41
Bone

Publications for Familial Avascular Necrosis of the Femoral Head

Variations for Familial Avascular Necrosis of the Femoral Head

Expression for Familial Avascular Necrosis of the Femoral Head

Search GEO for disease gene expression data for Familial Avascular Necrosis of the Femoral Head.

Pathways for Familial Avascular Necrosis of the Femoral Head

GO Terms for Familial Avascular Necrosis of the Femoral Head

Biological processes related to Familial Avascular Necrosis of the Femoral Head according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cartilage development involved in endochondral bone morphogenesis GO:0060351 8.62 COL2A1 TRPV4

Molecular functions related to Familial Avascular Necrosis of the Femoral Head according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.62 COL2A1 TRPV4

Sources for Familial Avascular Necrosis of the Femoral Head

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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