ANFH2
MCID: AVS005
MIFTS: 15

Avascular Necrosis of Femoral Head, Primary, 2 (ANFH2)

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Avascular Necrosis of Femoral Head, Primary, 2

MalaCards integrated aliases for Avascular Necrosis of Femoral Head, Primary, 2:

Name: Avascular Necrosis of Femoral Head, Primary, 2 57 6
Anfh2 57 75
Avascular Necrosis of the Femoral Head, Primary 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 4 sibs in 1 family (last curated february 2017)
onset of hip pain in third to fourth decade of life


HPO:

32
avascular necrosis of femoral head, primary, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617383
MeSH 44 D005271
SNOMED-CT via HPO 69 263681008

Summaries for Avascular Necrosis of Femoral Head, Primary, 2

UniProtKB/Swiss-Prot : 75 Avascular necrosis of the femoral head, primary 2: A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability.

MalaCards based summary : Avascular Necrosis of Femoral Head, Primary, 2, is also known as anfh2. An important gene associated with Avascular Necrosis of Femoral Head, Primary, 2 is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone.

Description from OMIM: 617383

Related Diseases for Avascular Necrosis of Femoral Head, Primary, 2

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

Symptoms & Phenotypes for Avascular Necrosis of Femoral Head, Primary, 2

Symptoms via clinical synopsis from OMIM:

57
Skeletal Pelvis:
narrowing of joint space
degenerative changes in hip joints
osteophytes at acetabulum

Skeletal Limbs:
avascular necrosis of the femoral head, bilateral
patchy cystic changes of femoral head
patchy sclerosis of femoral head
collapse of femoral head


Clinical features from OMIM:

617383

Drugs & Therapeutics for Avascular Necrosis of Femoral Head, Primary, 2

Search Clinical Trials , NIH Clinical Center for Avascular Necrosis of Femoral Head, Primary, 2

Genetic Tests for Avascular Necrosis of Femoral Head, Primary, 2

Anatomical Context for Avascular Necrosis of Femoral Head, Primary, 2

MalaCards organs/tissues related to Avascular Necrosis of Femoral Head, Primary, 2:

41
Bone

Publications for Avascular Necrosis of Femoral Head, Primary, 2

Variations for Avascular Necrosis of Femoral Head, Primary, 2

ClinVar genetic disease variations for Avascular Necrosis of Femoral Head, Primary, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.2481_2484delCCGC (p.Arg828Trpfs) deletion no interpretation for the single variant rs1057520305 GRCh37 Chromosome 12, 110221558: 110221561
2 TRPV4 NM_021625.4(TRPV4): c.2481_2484delCCGC (p.Arg828Trpfs) deletion no interpretation for the single variant rs1057520305 GRCh38 Chromosome 12, 109783753: 109783756
3 TRPV4 NM_021625.4(TRPV4): c.2486T> A (p.Val829Glu) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 12, 110221556: 110221556
4 TRPV4 NM_021625.4(TRPV4): c.2486T> A (p.Val829Glu) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 12, 109783751: 109783751

Expression for Avascular Necrosis of Femoral Head, Primary, 2

Search GEO for disease gene expression data for Avascular Necrosis of Femoral Head, Primary, 2.

Pathways for Avascular Necrosis of Femoral Head, Primary, 2

GO Terms for Avascular Necrosis of Femoral Head, Primary, 2

Sources for Avascular Necrosis of Femoral Head, Primary, 2

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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