MCID: FML048
MIFTS: 16

Familial Avascular Necrosis of the Femoral Head

Categories: Bone diseases, Genetic diseases, Rare 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 54
Familial Osteonecrosis of the Femoral Head 54 60
Primary Avascular Necrosis of the Femoral Head 54
Familial Avascular Necrosis of Femoral Head 60

Characteristics:

Orphanet epidemiological data:

60
familial avascular necrosis of femoral head
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United States); Age of onset: Adult;

Classifications:



External Ids:

ICD10 via Orphanet 35 M87.8
Orphanet 60 ORPHA86820

Summaries for Familial Avascular Necrosis of the Femoral Head

NIH Rare Diseases : 54 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 a disrupted blood supply and poor bone repair. It can lead to pain and limping, hip collapse, and cause the legs to be of unequal length. The development of ANFH is associated with steroid use, alcohol use, smoking, auto-immune disorders, and other medical conditions such as sickle cellanemia. Less commonly, ANFH can occur as the result of trauma to the hip, such as a hip fracture or hip surgery. Around 20,000-30,000 cases are reported each year in the United States. This condition mainly affects young, active adults, but can occur in children as well. In children, ANFH is known as Legg-Calves-Perthes disease. Most people with ANFH do not have a family history of this condition, but there are some very rare inherited forms of ANFH.    ANFH is usually diagnosed by X-rays or an MRI. Treatment depends on how much damage is present in the bone, and may involve surgery. Total hip replacement is an option for those with advanced ANFH. Early diagnosis is associated with a better outcome, but is difficult because ANFH doesn�??t cause any symptoms in its earliest stages. 

MalaCards based summary : Familial Avascular Necrosis of the Femoral Head, also known as familial osteonecrosis of the femoral head, is related to skeletal dysplasias and achondrogenesis, type ii. An important gene associated with Familial Avascular Necrosis of the Femoral Head is COL2A1 (Collagen Type II Alpha 1 Chain). 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 skeletal dysplasias 9.8 COL2A1 TRPV4
2 achondrogenesis, type ii 9.8 COL2A1 TRPV4
3 brachyolmia 9.8 COL2A1 TRPV4
4 kniest dysplasia 9.7 COL2A1 TRPV4
5 hypochondrogenesis 9.7 COL2A1 TRPV4
6 metaphyseal chondrodysplasia, jansen type 9.7 COL2A1 TRPV4
7 brachydactyly 9.6 COL2A1 TRPV4
8 scoliosis 9.5 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:

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# 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:

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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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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