BHD
MCID: BKS003
MIFTS: 37

Beukes Hip Dysplasia (BHD)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Beukes Hip Dysplasia

MalaCards integrated aliases for Beukes Hip Dysplasia:

Name: Beukes Hip Dysplasia 57 11 73 14
Hip Dysplasia, Beukes Type 57 58 73 28 12 5 43 71
Beukes Familial Hip Dysplasia 57 11 19 58 73
Bfhd 57 11 19 58 73
Cilliers-Beighton Syndrome 11 19 58
Premature Degenerative Osteoarthropathy of the Hip 11 58
Osteoarthropathy, Premature Degenerative, of Hip 57 19
Premature Degenerative Osteoarthropathy 73
Dysplasia, Hip, Beukes Type 38
Beukes Type Hip Dysplasia 11
Hip Dysplasia Beukes Type 19
Bhd 57

Characteristics:


Inheritance:

Beukes Hip Dysplasia: Autosomal dominant 57
Hip Dysplasia, Beukes Type: Autosomal dominant 58

Age Of Onset:

Hip Dysplasia, Beukes Type: Childhood 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in early childhood
described in single afrikaner family
variable severity of clinical and radiologic manifestations
penetrance estimated to be 80%


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0111367
OMIM® 57 142669
SNOMED-CT 68 721148005
ICD10 via Orphanet 32 Q65.8
UMLS via Orphanet 72 C1840572
Orphanet 58 ORPHA2114
MedGen 40 C1840572
UMLS 71 C1840572

Summaries for Beukes Hip Dysplasia

GARD: 19 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 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. 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 hip dysplasia, beukes type, is related to birt-hogg-dube syndrome and pneumothorax, primary spontaneous. An important gene associated with Beukes Hip Dysplasia is UFSP2 (UFM1 Specific Peptidase 2). Affiliated tissues include bone, and related phenotypes are hip dysplasia and abnormality of bone mineral density

OMIM®: 57 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) (Updated 24-Oct-2022)

Orphanet: 58 A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.

Disease Ontology: 11 An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has material basis in heterozygous mutation in UFSP2 on chromosome 4q35.1.

UniProtKB/Swiss-Prot: 73 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:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 birt-hogg-dube syndrome 11.7
2 pneumothorax, primary spontaneous 11.2
3 discoid fibromas, familial multiple 11.1
4 kidney cancer 10.4
5 pneumothorax 10.3
6 renal cell carcinoma, nonpapillary 10.3
7 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2
8 type ii collagen disorders 10.2
9 bone disease 10.2
10 osteoarthritis 10.2
11 polycystic liver disease 1 with or without kidney cysts 10.2
12 bap1 tumor predisposition syndrome 10.2
13 inherited cancer-predisposing syndrome 10.2
14 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
15 multiple epiphyseal dysplasia, autosomal dominant 10.2
16 oncocytoma 10.1
17 skin disease 10.1
18 erythrokeratoderma ''en cocardes'' 10.1
19 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
20 collecting duct carcinoma 10.1
21 colorectal cancer 10.0
22 tuberous sclerosis 1 10.0
23 tuberous sclerosis 2 10.0
24 cystic kidney disease 10.0
25 chromophobe renal cell carcinoma 10.0
26 renal oncocytoma 10.0
27 bobble-head doll syndrome 10.0
28 spondyloepimetaphyseal dysplasia 9.9 UFSP2 DDRGK1
29 amyotrophic lateral sclerosis 1 9.8
30 osseous heteroplasia, progressive 9.8
31 thrombocytopenic purpura, autoimmune 9.8
32 sea-blue histiocyte disease 9.8
33 frontotemporal dementia 9.8
34 familial adenomatous polyposis 9.8
35 osteomyelitis 9.8
36 leiomyoma 9.8
37 tuberous sclerosis 9.8
38 lateral sclerosis 9.8
39 adenocarcinoma 9.8
40 cystadenocarcinoma 9.8
41 purpura 9.8
42 appendix adenocarcinoma 9.8
43 hereditary renal cell carcinoma 9.8
44 multilocular clear cell renal cell carcinoma 9.8
45 familial renal oncocytoma 9.8
46 adenoma 9.8
47 lung disease 9.8
48 parotid gland cancer 9.8
49 49, xxxxy syndrome 9.8
50 49,xxxxx syndrome 9.8

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:

58 30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hip dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001385
2 abnormality of bone mineral density 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004348
3 osteoarthritis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002758
4 broad femoral neck 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006429
5 abnormal ossification involving the femoral head and neck 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009107
6 abnormality of the epiphysis of the femoral head 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010574
7 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
8 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
9 coxa vara 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002812
10 abnormality of epiphysis morphology 58 Very frequent (99-80%)
11 avascular necrosis of the capital femoral epiphysis 30 HP:0005743
12 abnormal bone ossification 58 Very frequent (99-80%)
13 flat capital femoral epiphysis 30 HP:0003370
14 shallow acetabular fossae 30 HP:0003182
15 wide proximal femoral metaphysis 30 HP:0008783
16 irregular capital femoral epiphysis 30 HP:0005041

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

Drugs & Therapeutics for Beukes Hip Dysplasia

Search Clinical Trials, NIH Clinical Center for Beukes Hip Dysplasia

Cochrane evidence based reviews: hip dysplasia, beukes type

Genetic Tests for Beukes Hip Dysplasia

Genetic tests related to Beukes Hip Dysplasia:

# Genetic test Affiliating Genes
1 Hip Dysplasia, Beukes Type 28 UFSP2

Anatomical Context for Beukes Hip Dysplasia

Organs/tissues related to Beukes Hip Dysplasia:

MalaCards : Bone

Publications for Beukes Hip Dysplasia

Articles related to Beukes Hip Dysplasia:

# Title Authors PMID 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. 62 57 5
26428751 2015
2
Beukes familial hip dysplasia: an autosomal dominant entity. 62 57 5
2389793 1990
3
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 62 5
28892125 2018
4
Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35. 62 57
10053028 1999
5
Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1. 62 57
7864044 1994
6
Structure of ubiquitin-fold modifier 1-specific protease UfSP2. 5
21228277 2011
7
Stratification analysis of an osteoarthritis genome screen-suggestive linkage to chromosomes 4, 6, and 16. 57
10577938 1999
8
Predictive accuracy of bioimpedance in estimating fat-free mass of African-American women. 62
9219206 1997

Variations for Beukes Hip Dysplasia

ClinVar genetic disease variations for Beukes Hip Dysplasia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UFSP2 NM_018359.5(UFSP2):c.868T>C (p.Tyr290His) SNV Pathogenic
204613 rs796052130 GRCh37: 4:186329553-186329553
GRCh38: 4:185408399-185408399
2 UFSP2 NM_018359.5(UFSP2):c.1277A>C (p.Asp426Ala) SNV Pathogenic
437868 rs1554022725 GRCh37: 4:186324694-186324694
GRCh38: 4:185403540-185403540
3 UFSP2, C4orf47 NM_018359.5(UFSP2):c.333+11T>C SNV Benign
1684235 GRCh37: 4:186339584-186339584
GRCh38: 4:185418430-185418430
4 UFSP2, C4orf47 NM_018359.5(UFSP2):c.-33C>T SNV Benign
1684236 GRCh37: 4:186347055-186347055
GRCh38: 4:185425901-185425901

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

73
# Symbol AA change Variation ID SNP ID
1 UFSP2 p.Tyr290His VAR_074673 rs796052130

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

Cellular components related to Beukes Hip Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.28 UFSP2 UFM1 UFL1 UBA5 DDRGK1

Biological processes related to Beukes Hip Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to endoplasmic reticulum stress GO:0034976 10.1 UFM1 UFL1 UFC1 UBA5 DDRGK1 CDK5RAP3
2 reticulophagy GO:0061709 9.96 DDRGK1 UBA5 UFC1 UFL1 UFM1
3 brain development GO:0007420 9.91 UFM1 UFC1 CDK5RAP3
4 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.85 UFSP2 UFM1 UFL1 UBA5 DDRGK1
5 erythrocyte differentiation GO:0030218 9.71 UFL1 UBA5
6 negative regulation of IRE1-mediated unfolded protein response GO:1903895 9.67 UFL1 DDRGK1
7 protein K69-linked ufmylation GO:1990592 9.65 UFM1 UFL1 UFC1 UBA5 DDRGK1
8 protein ufmylation GO:0071569 9.4 UFM1 UFL1 UFC1 UBA5 DDRGK1 CDK5RAP3

Molecular functions related to Beukes Hip Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 UFM1 transferase activity GO:0071568 9.26 UFL1 UFC1
2 ubiquitin-like protein ligase binding GO:0044389 9.1 CDK5RAP3 DDRGK1 TRIP4

Sources for Beukes Hip Dysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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