BFHD
MCID: BKS003
MIFTS: 30

Beukes Hip Dysplasia (BFHD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Beukes Hip Dysplasia

MalaCards integrated aliases for Beukes Hip Dysplasia:

Name: Beukes Hip Dysplasia 58 76 38 30 6
Beukes Familial Hip Dysplasia 58 54 60 76 13
Hip Dysplasia, Beukes Type 58 60 76 74
Bfhd 58 54 60 76
Osteoarthropathy, Premature Degenerative, of Hip 58 54
Cilliers-Beighton Syndrome 54 60
Premature Degenerative Osteoarthropathy of the Hip 60
Premature Degenerative Osteoarthropathy 76
Beukes Familial Hip Dysplasia; Bfhd 58
Hip Dislocation, Congenital 45
Dysplasia, Hip, Beukes Type 41
Hip Dysplasia Beukes Type 54
Bhd 58

Characteristics:

Orphanet epidemiological data:

60
hip dysplasia, beukes type
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
described in single afrikaner family
variable severity of clinical and radiologic manifestations
penetrance estimated to be 80%
onset in early childhood


HPO:

33
beukes hip dysplasia:
Onset and clinical course childhood onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 142669
KEGG 38 H01817
ICD10 34 Q65.0 Q65.1
ICD10 via Orphanet 35 Q65.8
UMLS via Orphanet 75 C1840572
Orphanet 60 ORPHA2114
MedGen 43 C1840572
UMLS 74 C1840572

Summaries for Beukes Hip Dysplasia

NIH Rare Diseases : 54 Beukes hip dysplasia (BHD) is a rare inherited skeletal dysplasia affecting the hip joint. In general, skeletal dysplasias are a group of disorders which affect the bone and cartilage. Skeletal dysplasias are more commonly known as types of dwarfism, but not all skeletal dysplasias cause a person to be short in height. In fact, BHD only affects the hip joint. A person with BHD is similar in height to other family members. There are no other health problems associated with BHD.  Beukes hip dysplasia (BHD) causes severe progressive degenerative osteoarthritis of the hip joint in early adulthood. Symptoms of hip joint pain and discomfort usually begin in infancy or later childhood, but may also begin as late as the mid-30s. Severity of the condition varies even among family members. In fact some people who inherit the change or mutation in the gene which causes BHD never develop any problems with their hip joint. After symptoms begin, the characteristic signs of secondary osteoarthritis (including bone sclerosis, cyst formation and narrowing of the joint space) develop and the joint deteriorates rapidly. Treatment depends on the severity of symptoms, but may include walking aids (such as a cane or walker), medication for pain or to reduce inflammation, and/or hip joint replacement surgery.   As of 2015, BHD has only been found in relatives of a single family in South Africa who were of European descent. BHD has affected many generations and members of this family. Family members with BHD now live in other parts of the world as well.

MalaCards based summary : Beukes Hip Dysplasia, also known as beukes familial hip dysplasia, is related to birt-hogg-dube syndrome and bobble-head doll syndrome. An important gene associated with Beukes Hip Dysplasia is UFSP2 (UFM1 Specific Peptidase 2). Affiliated tissues include bone and kidney, and related phenotypes are osteoarthritis and hip dysplasia

OMIM : 58 Beukes hip dysplasia is characterized by severe progressive degenerative osteoarthritis of the hip joint in early adulthood, with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. Symptoms of hip joint discomfort usually develop in infancy or later childhood, but may present as late as the fourth decade. Phenotypic expression is age-related and variable in severity; penetrance is incomplete and has been estimated to be 80%. The earliest primary radiographic features of BHD include bilateral shortening and broadening of the femoral neck, delayed appearance of the secondary ossification center, coxa vara, displacement of the femoral head in the acetabulum, and overgrowth of the greater trochanters. After onset of symptoms, the characteristic signs of osteoarthritis develop, including bone sclerosis, cyst formation, and narrowing of the joint space, with rapid deterioration of the joint (summary by Watson et al., 2015). (142669)

UniProtKB/Swiss-Prot : 76 Beukes familial hip dysplasia: A severe progressive degenerative osteoarthritis of the hip joint with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems.

Related Diseases for Beukes Hip Dysplasia

Diseases related to Beukes Hip Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 15, show less)
# Related Disease Score Top Affiliating Genes
1 birt-hogg-dube syndrome 12.3
2 bobble-head doll syndrome 11.9
3 pneumothorax, primary spontaneous 11.2
4 cyprus facial neuromusculoskeletal syndrome 11.2
5 discoid fibromas, familial multiple 11.1
6 kidney cancer 10.4
7 colorectal cancer 10.2
8 renal cell carcinoma, nonpapillary 10.2
9 oncocytoma 10.0
10 gastric cancer 10.0
11 chromophobe renal cell carcinoma 10.0
12 pneumothorax 10.0
13 cystadenocarcinoma 10.0
14 purpura 10.0
15 fibromatosis 10.0

Graphical network of the top 20 diseases related to Beukes Hip Dysplasia:



Diseases related to Beukes Hip Dysplasia

Symptoms & Phenotypes for Beukes Hip Dysplasia

Human phenotypes related to Beukes Hip Dysplasia:

60 33 (showing 16, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002758
2 hip dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001385
3 abnormality of bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0004348
4 broad femoral neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0006429
5 abnormal ossification involving the femoral head and neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0009107
6 abnormality of the epiphysis of the femoral head 60 33 hallmark (90%) Very frequent (99-80%) HP:0010574
7 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
8 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
9 coxa vara 60 33 occasional (7.5%) Occasional (29-5%) HP:0002812
10 abnormality of epiphysis morphology 60 Very frequent (99-80%)
11 abnormal bone ossification 60 Very frequent (99-80%)
12 wide proximal femoral metaphysis 33 HP:0008783
13 avascular necrosis of the capital femoral epiphysis 33 HP:0005743
14 flat capital femoral epiphysis 33 HP:0003370
15 shallow acetabular fossae 33 HP:0003182
16 irregular capital femoral epiphysis 33 HP:0005041

Symptoms via clinical synopsis from OMIM:

58
Skeletal Pelvis:
widened proximal femoral metaphyses (early childhood)
delayed appearance the secondary ossification center of the femoral head (early childhood)
irregular proximal epiphyseal line of the femur (early childhood)
coxa plana (mid-childhood)
broadening of the femoral neck (mid-childhood)
more

Clinical features from OMIM:

142669

Drugs & Therapeutics for Beukes Hip Dysplasia

Search Clinical Trials , NIH Clinical Center for Beukes Hip Dysplasia

Cochrane evidence based reviews: hip dislocation, congenital

Genetic Tests for Beukes Hip Dysplasia

Genetic tests related to Beukes Hip Dysplasia:

# Genetic test Affiliating Genes
1 Beukes Hip Dysplasia 30 UFSP2

Anatomical Context for Beukes Hip Dysplasia

MalaCards organs/tissues related to Beukes Hip Dysplasia:

42
Bone, Kidney

Publications for Beukes Hip Dysplasia

Articles related to Beukes Hip Dysplasia:

(showing 3, show less)
# Title Authors Year
1
Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia. ( 26428751 )
2015
2
Structure of ubiquitin-fold modifier 1-specific protease UfSP2. ( 21228277 )
2011
3
Beukes familial hip dysplasia: an autosomal dominant entity. ( 2389793 )
1990

Variations for Beukes Hip Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Beukes Hip Dysplasia:

76 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 UFSP2 p.Tyr290His VAR_074673 rs796052130

ClinVar genetic disease variations for Beukes Hip Dysplasia:

6 (showing 4, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 UFSP2 NM_018359.3(UFSP2): c.868T> C (p.Tyr290His) single nucleotide variant Pathogenic rs796052130 GRCh37 Chromosome 4, 186329553: 186329553
2 UFSP2 NM_018359.3(UFSP2): c.868T> C (p.Tyr290His) single nucleotide variant Pathogenic rs796052130 GRCh38 Chromosome 4, 185408399: 185408399
3 UFSP2 NM_018359.4(UFSP2): c.1277A> C (p.Asp426Ala) single nucleotide variant Pathogenic rs1554022725 GRCh38 Chromosome 4, 185403540: 185403540
4 UFSP2 NM_018359.4(UFSP2): c.1277A> C (p.Asp426Ala) single nucleotide variant Pathogenic rs1554022725 GRCh37 Chromosome 4, 186324694: 186324694

Expression for Beukes Hip Dysplasia

Search GEO for disease gene expression data for Beukes Hip Dysplasia.

Pathways for Beukes Hip Dysplasia

GO Terms for Beukes Hip Dysplasia

Sources for Beukes Hip Dysplasia

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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