ORPHA:86820

Familial avascular necrosis of femoral head

Synonyms: Familial osteonecrosis of the femoral head

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Adult
Status: active

Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial avascular necrosis of femoral head	Familial osteonecrosis of the femoral head
fr	Nécrose avasculaire familiale de la tête fémorale	Ostéonécrose familiale de la tête fémorale
de	Avaskuläre Nekrose des Femurkopfes, familiäre Form
es	Necrosis avascular de la cabeza femoral, forma familiar	Osteonecrosis de la cabeza femoral, forma familiar
it	Necrosi avascolare della testa femorale, forma familiare	Osteonecrosi della testa femorale, forma familiare
nl	Familiale avasculaire necrose van femurkop	Familiale osteonecrose van femurkop
pt	Necrose avascular da cabeça do fémur, forma familiar
pl	Rodzinna awaskularna martwica głowy kości udowej	= en
cs	Familiární avaskulární nekróza hlavice femuru	Familiární osteonekróza hlavice femuru
uk	Сімейний аваскулярний некроз головки стегнової кістки	Сімейний остеонекроз головки стегнової кістки
zh	家族性股骨头缺血性坏死	家族性股骨头坏死
tr	Femur başının ailesel avasküler nekrozu	Femur başının ailesel osteonekrozu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	608805	BTNT		validated
OMIM	617383	BTNT		validated
ICD-10	M87.8	NTBT	attributed	validated
ICD-11	FB82.1	NTBT	index	validated
MONDO	0012126	E		validated
UMLS	C4275066	E		validated
GARD	10914	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93419Rare bone disease

Parents in the classifications (3):

ORPHA:399388Avascular necrosis of genetic origin
rare genetic diseases
ORPHA:399302Primary avascular necrosis
rare systemic and rheumatological diseases; rare bone diseases
ORPHA:93421Type 2 collagen-related bone disorder
rare genetic diseases

No children.

Genes

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TRPV4	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:18083	ENSG00000111199	605427	12q24.11	transient receptor potential cation channel subfamily V member 4	27330106[PMID]
COL2A1	Disease-causing germline mutation(s) in	Assessed	HGNC:2200	ENSG00000139219	120140	12q13.11	collagen type II alpha 1 chain	15930420[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	1-9 / 100 000	5 / 100 000	United States	Value and class	Validated	[EXPERT]
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

9 annotations · validated 2019-06-07

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0003366	Abnormality of the femoral neck or head region
HP:0031520	Groin pain
Frequent (79-30%)
HP:0008812	Flattened femoral head
HP:0008843	Hip osteoarthritis
HP:0030838	Hip pain
HP:0031058	Impairment of activities of daily living
HP:0008800	Limited hip movement
HP:0100559	Lower limb asymmetry
HP:0007311	Short stepped shuffling gait

Run the differential on the 2 obligate / very frequent terms

Annotation source: 29750297[PMID]_15179599[PMID]_23041471[PMID]_27330106[PMID]_15930420[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/86820
This record as JSON: /data/d/86820.json