MCID: FML048
MIFTS: 25

Familial Avascular Necrosis of the Femoral Head

Categories: Blood diseases, Bone diseases, Cardiovascular 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 20
Familial Osteonecrosis of the Femoral Head 20 58
Primary Avascular Necrosis of the Femoral Head 20
Familial Avascular Necrosis of Femoral Head 58
Avascular Necrosis of Femoral Head, Primary 6

Characteristics:

Orphanet epidemiological data:

58
familial avascular necrosis of femoral head
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United States); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases


External Ids:

ICD10 via Orphanet 33 M87.8
Orphanet 58 ORPHA86820
SNOMED-CT via HPO 68 239872002 45939007 49218002

Summaries for Familial Avascular Necrosis of the Femoral Head

GARD : 20 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 cell anemia. 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 avascular necrosis of femoral head, primary, 1 and avascular necrosis of femoral head, primary, 2. An important gene associated with Familial Avascular Necrosis of the Femoral Head is COL2A1 (Collagen Type II Alpha 1 Chain). Related phenotypes are groin pain and lower limb asymmetry

Related Diseases for Familial Avascular Necrosis of the Femoral Head

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

Human phenotypes related to Familial Avascular Necrosis of the Femoral Head:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 groin pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0031520
2 lower limb asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0100559
3 hip pain 58 31 frequent (33%) Frequent (79-30%) HP:0030838
4 flattened femoral head 58 31 frequent (33%) Frequent (79-30%) HP:0008812
5 hip osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0008843
6 limited hip movement 58 31 frequent (33%) Frequent (79-30%) HP:0008800
7 short stepped shuffling gait 58 31 frequent (33%) Frequent (79-30%) HP:0007311
8 impairment of activities of daily living 58 31 frequent (33%) Frequent (79-30%) HP:0031058
9 abnormality of the femoral neck or head region 58 Very frequent (99-80%)

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

Publications for Familial Avascular Necrosis of the Femoral Head

Articles related to Familial Avascular Necrosis of the Femoral Head:

# Title Authors PMID Year
1
Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1. 6
21671384 2011
2
A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family. 6
17394019 2007
3
Type II collagen gene variants and inherited osteonecrosis of the femoral head. 6
15930420 2005
4
Osteonecrosis of the femoral head: genetic basis. 20
30328481 2019
5
An evidence-based guide to the treatment of osteonecrosis of the femoral head. 20
28963146 2017
6
Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head. 20
27330106 2016
7
Identification of an IGF1 mutation (c.15+3G>A) in familial osteonecrosis of the femoral head: A case report. 61
33429739 2021
8
Perthes' disease and the search for genetic associations: collagen mutations, Gaucher's disease and thrombophilia. 61
18978274 2008

Variations for Familial Avascular Necrosis of the Femoral Head

ClinVar genetic disease variations for Familial Avascular Necrosis of the Femoral Head:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL2A1 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) SNV Pathogenic 195148 rs794727261 GRCh37: 12:48393736-48393736
GRCh38: 12:47999953-47999953
2 COL2A1 NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser) SNV Pathogenic 17393 rs121912891 GRCh37: 12:48369835-48369835
GRCh38: 12:47976052-47976052
3 COL2A1 NM_001844.5(COL2A1):c.2149G>A (p.Gly717Ser) SNV Pathogenic 17394 rs387906558 GRCh37: 12:48376675-48376675
GRCh38: 12:47982892-47982892
4 COL2A1 NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) SNV Pathogenic 17395 rs121912893 GRCh37: 12:48377504-48377504
GRCh38: 12:47983721-47983721
5 COL2A1 NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) SNV Pathogenic 17366 rs121912874 GRCh37: 12:48372112-48372112
GRCh38: 12:47978329-47978329
6 COL2A1 NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) SNV Likely pathogenic 29637 rs138498898 GRCh37: 12:48368041-48368041
GRCh38: 12:47974258-47974258
7 COL2A1 NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) SNV Uncertain significance 547841 rs886042009 GRCh37: 12:48374344-48374344
GRCh38: 12:47980561-47980561
8 COL2A1 NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) SNV Uncertain significance 308931 rs142770543 GRCh37: 12:48388220-48388220
GRCh38: 12:47994437-47994437

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 TRPV4 COL2A1

Sources for Familial Avascular Necrosis of the Femoral Head

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....