BHD
MCID: BKS003
MIFTS: 37

Beukes Hip Dysplasia (BHD)

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 57 74 37 29 6
Beukes Familial Hip Dysplasia 57 53 59 74 13
Hip Dysplasia, Beukes Type 57 59 74 72
Bfhd 57 53 59 74
Osteoarthropathy, Premature Degenerative, of Hip 57 53
Cilliers-Beighton Syndrome 53 59
Premature Degenerative Osteoarthropathy of the Hip 59
Premature Degenerative Osteoarthropathy 74
Beukes Familial Hip Dysplasia; Bfhd 57
Hip Dislocation, Congenital 44
Dysplasia, Hip, Beukes Type 40
Hip Dysplasia Beukes Type 53
Bhd 57

Characteristics:

Orphanet epidemiological data:

59
hip dysplasia, beukes type
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
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:

32
beukes hip dysplasia:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 57 142669
KEGG 37 H01817
ICD10 via Orphanet 34 Q65.8
UMLS via Orphanet 73 C1840572
Orphanet 59 ORPHA2114
MedGen 42 C1840572
UMLS 72 C1840572

Summaries for Beukes Hip Dysplasia

NIH Rare Diseases : 53 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). The drugs Clonidine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are osteoarthritis and hip dysplasia

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)

KEGG : 37
Beukes hip dysplasia (BHD) is an autosomal dominant disorder characterised by bilateral dysmorphism of the proximal femur, which results in severe degenerative osteoarthropathy. Pain develops in the hip joints in early childhood in the majority of affected persons and the course is progressive with severe crippling by early adulthood. General health is good, and height is not significantly reduced. The condition is unique in that the underlying dysplasia and subsequent osteoarthritis are confined to the hip joint. Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2 has been reported.

UniProtKB/Swiss-Prot : 74 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

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:

59 32 (showing 16, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002758
2 hip dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001385
3 abnormality of bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004348
4 broad femoral neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0006429
5 abnormal ossification involving the femoral head and neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0009107
6 abnormality of the epiphysis of the femoral head 59 32 hallmark (90%) Very frequent (99-80%) HP:0010574
7 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
8 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
9 coxa vara 59 32 occasional (7.5%) Occasional (29-5%) HP:0002812
10 abnormality of epiphysis morphology 59 Very frequent (99-80%)
11 abnormal bone ossification 59 Very frequent (99-80%)
12 wide proximal femoral metaphysis 32 HP:0008783
13 avascular necrosis of the capital femoral epiphysis 32 HP:0005743
14 flat capital femoral epiphysis 32 HP:0003370
15 shallow acetabular fossae 32 HP:0003182
16 irregular capital femoral epiphysis 32 HP:0005041

Symptoms via clinical synopsis from OMIM:

57
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

Drugs for Beukes Hip Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 53, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Racepinephrine Approved Phase 4 329-65-7 838
4
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
6 Sympathomimetics Phase 4
7 Antihypertensive Agents Phase 4
8 Analgesics Phase 4
9 Adrenergic alpha-2 Receptor Agonists Phase 4
10 Adrenergic Agonists Phase 4
11 Adrenergic alpha-Agonists Phase 4
12 Respiratory System Agents Phase 4
13 Adrenergic beta-Agonists Phase 4
14 Mydriatics Phase 4
15 Neurotransmitter Agents Phase 4
16 Adrenergic Agents Phase 4
17 Epinephryl borate Phase 4
18 Sympatholytics Phase 4
19 Anti-Asthmatic Agents Phase 4
20 Vasoconstrictor Agents Phase 4
21 Bronchodilator Agents Phase 4
22 Gentamicins Phase 4
23 Anti-Bacterial Agents Phase 4
24 Anti-Infective Agents Phase 4
25 Sodium Chloride Symporter Inhibitors Phase 4
26 diuretics Phase 4
27 Natriuretic Agents Phase 4
28 Peripheral Nervous System Agents Phase 4
29 Autonomic Agents Phase 4
30 Anti-Inflammatory Agents Phase 4
31 Gastrointestinal Agents Phase 4
32 Antiemetics Phase 4
33 HIV Protease Inhibitors Phase 4
34 Hormones Phase 4
35
protease inhibitors Phase 4
36 glucocorticoids Phase 4
37 Antineoplastic Agents, Hormonal Phase 4
38 Hormone Antagonists Phase 4
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
40 BB 1101 Phase 4
41 Pharmaceutical Solutions Phase 2, Phase 3
42
Ropivacaine Approved 84057-95-4 71273 175805
43
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
44
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
45
Tranexamic Acid Approved 1197-18-8 5526
46
tannic acid Approved 1401-55-4
47
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
48 Anesthetics, Local
49 Central Nervous System Depressants
50 Hemostatics
51 Coagulants
52 Antifibrinolytic Agents
53 Anesthetics

Interventional clinical trials:

(showing 83, show less)
# Name Status NCT ID Phase Drugs
1 Efficacy and Satisfaction Comparing Two Braces in the Treatment of DDH in Infants: A Randomized Clinical Trial Completed NCT01375218 Phase 4
2 Reduction of Hip Arthroscopy Post-operative Pain Using Ultrasound-guided Fascia-iliaca Block Completed NCT02365961 Phase 4 ropivicaine;clonidine;Epinephrine;Noropin
3 A Prospective, Randomised, Uncontrolled, Single-Centre, Post-Market Surveillance Study To Evaluate The Performance Of SmartSet® HV and SmartSet® GHV Bone Cements In Primary Cemented Total Hip Arthroplasty(THA) Completed NCT00872066 Phase 4
4 A Prospective, Randomised, Controlled, Single Centre, Blinded Study of the Wear Characteristics of Two Polyethylene Bearing Surfaces, Enduron vs. Marathon Completed NCT00208442 Phase 4
5 High vs Low Dose Dexamethasone on Complications in the Immediate Postoperative Phase After Periacetabular (GANZ) Osteotomy Recruiting NCT03161938 Phase 4 Dexamethasone
6 A Randomized Multicentre Clinical Trial Comparing The Metal on Metal Hip System Versus The Metal on Highly Crossed Linked Polyethylene System Terminated NCT01422564 Phase 4
7 Prospective, International Multi-centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-term Performance of the DePuy PROXIMA™ Hip in Subjects With Indications Suitable for a Primary Total Hip Arthroplasty Terminated NCT01134445 Phase 4
8 Multicenter Post Approval Study of the Trilogy AB(R) Acetabular System Terminated NCT00715026 Phase 4
9 An Uncontrolled, Multi-Centre, Prospective, Post Marketing Surveillance Study to Monitor the Long Term Survivorship of the DePuy PROXIMA™ Hip in Subjects Requiring a Total Hip Replacement Terminated NCT00208455 Phase 4
10 Prospective, Uncontrolled, Multi-Centre, Post-Marketing Surveillance Study to Evaluate the Long-Term Performance of Summit Tapered Hip in Cementless Total Hip Arthroplasty Terminated NCT00208390 Phase 4
11 A Multi-centre, Prospective, Uncontrolled Post Market Clinical Follow-up Study (PMCFS) to Monitor the Survival and Performance of the DeltaMotion Cup System in Subjects Requiring a Total Hip Replacement Terminated NCT01635166 Phase 4
12 Prospective, Uncontrolled, Two-centre, RSA, Post-market Surveillance Study to Evaluate the Stability of the C-Stem™ AMT Femoral Component in Primary Total Hip Arthroplasty. Terminated NCT00872573 Phase 4
13 Uncontrolled Prospective Multi-Centre Post Marketing Surveillance Study to Monitor the Long Term Survivorship of Pinnacle™ Acetabular Cup Prosthesis With a Ceramic-on-ceramic Bearing in Subjects With Aetiologies Requiring a Primary Total Hip Replacement Terminated NCT00872222 Phase 4
14 DURALOC® Option Ceramic-on-Ceramic Hip Prosthesis System PMA Post-approval Study Terminated NCT00546598 Phase 4
15 Prospective Multi-Centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-Term Performance of the DePuy ASR Hip System in Subjects With Suitable Indications for a Primary Resurfacing Hip Arthroplasty Terminated NCT00208377 Phase 4
16 Uncontrolled Prospective Multi-Centre Post Marketing Surveillance Study to Monitor the Long Term Survivorship of Pinnacle Acetabular Cup Prosthesis With a Metal on Metal Bearing in Subjects With Aetiologies Requiring a Primary Total Hip Replacement Terminated NCT00208364 Phase 4
17 Randomised, Controlled, Prospective, Multi-Centre, Post Market Surveillance Study Comparing a Ceramic-on-Metal Bearing and a Metal-on-Metal Bearing in Subjects Requiring Primary Total Hip Arthroplasty for Non-Inflammatory Degenerative Joint Disease Terminated NCT00873444 Phase 4
18 Prospective Single-centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-term Performance of the DePuy ASR™ Hip in Subjects With Suitable Indications for a Primary Resurfacing Hip Arthroplasty Terminated NCT00872794 Phase 4
19 Prospective, International Multi-centre, Uncontrolled, Post Marketing Surveillance Study to Monitor the Long-term Performance of a Large Metal-on-Metal (MoM) Bearing Comprising a DePuy ASR™ Cup in Conjunction With Either a DePuy ASR™ Hip Resurfacing Femoral Component or a DePuy ASR™ XL Head in Subjects With Indications Suitable for Either a Primary Resurfacing Arthroplasty or Primary Total Hip Arthroplasty Terminated NCT00872547 Phase 4
20 Uncontrolled Prospective Multi-Centre Post Marketing Surveillance Study to Monitor the Long Term Survivorship of Pinnacle Acetabular Cup System With a Metal on Enduron Polyethylene Bearing in Subjects With Aetiologies Requiring a Primary Total Hip Replacement Withdrawn NCT00208429 Phase 4
21 The Effect of Perioperative Dexamethasone Administration on Postoperative Pain in Patients Undergoing Periacetabular Osteotomy: A Randomised Double-blind, Placebo-controlled Trial Not yet recruiting NCT03874936 Phase 2, Phase 3 Dexamethasone 24mg Solution for Injection;Saline Solution for Injection
22 A Multi-centre, Randomised, Parallel Group, Controlled Study to Compare the Performance of the Future Hip Against Three Currently Used Implants in Total Hip Replacement Terminated NCT00208468 Phase 3
23 Clinical and Radiographic Evaluation to Compare a Polished and Non-polished Collared Stem and a Polished and Non Polished Collarless Stem in Primary Total Hip Replacement Terminated NCT00208351 Phase 3
24 Acetabular Labral Tear in Dysplastic Hips Unknown status NCT01345838
25 Modified Triple Osteotomy for Acetabular Dysplasia - A Modified Technique for Better Femoral Head Medialization and Coverage Unknown status NCT01285154
26 Universal Ultrasound-screening for Developmental Dysplasia of the Hip. 5-12 Years Followup of 4 200 Newborns Unknown status NCT01053299
27 Periacetabular Osteotomy With Versus Without Adjunctive Hip Arthroscopy for Intra-Articular Pathology in Hip Dysplasia: a Prospective Randomized Trial Unknown status NCT02790749
28 Automatic Characterization of the Neonatal Hip Using Ultrasound Imaging Unknown status NCT02796768
29 Soft Tissue Pathology in 100 Patients With Hip Dysplasia Before and After Periacetabular Osteotomy Unknown status NCT02311166
30 Routine Follow up After THA in PAO Patient Completed NCT01657357
31 Periprosthetic Bone Mineral Density After Total Hip Arthroplasty Performed Through a Minimally Invasive Anterior Approach (AMIS) With Either an AMIStem or a Quadra Femoral Component. Completed NCT01285843
32 A Prospective, Randomized, Multicenter, Controlled Study Comparing the Outcomes of Primary Total Hip Arthroplasty Devices Manufactured in China Versus Devices Manufactured Outside of China Completed NCT02399007
33 Ebis: The Eindhoven Breech Intervention Study Completed NCT00516555
34 Outcome After Arthroscopic Labrum Surgery in Patients Treated With Periacetabular Osteotomy Completed NCT02945995
35 Retrospective Follow-up Study After Periacetabular Osteotomy in Adults Completed NCT01348178
36 A New Pelvic Osteotomy Method for Open Reduction in the Treatment of Developmental Dysplasia of the Hip in Children Completed NCT04007016
37 Post Approval Study of the C2a-Taper™ Acetabular System Completed NCT00578851
38 Selective Ultrasound Screening for Developmental Hip Dysplasia: Effect on Management and Late Detected Cases. A Prospective Survey During 1991-2006. Completed NCT01866527
39 Ultrasound Screening for Developmental Dysplasia of the Hip in the Neonate: The Effect on Treatment Rate and Prevalence of Late Cases Completed NCT01818934
40 A Prospective, Randomized, Multicenter Clinical Study in Chinese Subjects to Compare the Safety and Efficacy of the Delta PLUS Femoral Head and SL-TWIN Stem With BIOLOX Forte Ball Head and SL-PLUS Stem in Total Hip Arthroplasty Completed NCT02347384
41 Incidence of Developmental Hip Dysplasia by Ultrasonographic Screening of Asymptomatic Infants Less Than 6 Months Old at Assiut University Hospital Outpatient Clinics Completed NCT03476915
42 Movement Pattern in Patients With Hip Dysplasia Operated With Minimally Invasive Approach in Peri-acetabular Osteotomy (PAO) Completed NCT01344421
43 Open Label, Randomized, Blinded Study to Evaluate the Efficacy of Aquamantys System for Reducing the Transfusion Requirements Associated With the Anterior-Supine Intermuscular (ASI) Approach for Total Hip Arthroplasty (THA) Completed NCT01583465
44 Functional Capacity After Computer Assisted Periacetabular Osteotomy in Patients With Hip Dysplasia Completed NCT02015247
45 Measurement of Metal Ion Levels and Chromosome Abnormalities in Ceramic on Metal Total Hip Arthroplasty in Vivo Completed NCT01437124
46 Immediate Treatment Compared With Active Sonographic Surveillance in the Management of Mild Hip Dysplasia in Newborn Infants: A Randomized, Controlled Trial Completed NCT00843258
47 Effect of Different Truncal Blocks Under Ultrasound-Guidance on Pain Management After Open Reduction of Pediatric Developmental Dysplasia of the Hip: a Randomized Trial Completed NCT03189966
48 Psychological, Sexually and Social Consequences of Osteoarthritis Treatment With Total Hip or Total Knee Arthroplasties and Joint Preserving Surgery Completed NCT01305759
49 The Medacta SMS Femoral Stem Component. A Multi-National, Multi-Centre, Clinical Surveillance Study Recruiting NCT02748408
50 A Multi-centre, Prospective Post Marketing Surveillance Study to Assess Mid-term Performance of the Mpact Cup in Subjects Requiring Primary Total Hip Arthroplasty Recruiting NCT02196818
51 Early Abduction Splintage on Stable Hips in Infants With Developmental Dysplasia of the Hip : Improvement or Overtreatment ? Recruiting NCT02885831
52 Effectiveness of Cotton vs. Waterproof Cast Padding After Application of Hip Spica: A Randomized Controlled Study Recruiting NCT03859232
53 Erector Spinae Plane Block for Congenital Hip Dislocation Surgery: Randomized Controlled Double Blind Study Recruiting NCT03949686 Saline Solution;Bupivacaine
54 Use of Intraoperative Contrast-Enhanced Ultrasound to Evaluate Femoral Head Perfusion in Infants With Developmental Hip Dysplasia After Surgical Reduction Recruiting NCT03107520 Early Phase 1 Lumason
55 A Non-Inferiority Trial Assessing a Limited Ultrasound Protocol in the Treatment of Developmental Dysplasia of the Hip Recruiting NCT03608475
56 Actis Total Hip System 2 Year Follow-up Recruiting NCT02783274
57 Prospective Post Market Clinical Follow-up Study of the Avenir® Cemented Hip Stem Recruiting NCT03396224
58 Structural and Functional Sequelae of Developmental Dysplasia of the Hip Recruiting NCT02431871
59 Evaluation of T1rho Magnetic Resonance Imaging for Diagnosis of Cartilage Lesions in Hips With Developmental Dysplasia Recruiting NCT02185365
60 Single-Blind Randomized Clinical Trial of Concomitant Hip Arthroscopy During Periacetabular Osteotomy for the Management of Hip Dysplasia Recruiting NCT03181048
61 Investigation the Effects of Core Stabilization Training on Gait, Balance, Muscle Strength, Functions, Fear of Movement and Quality of Life in Individuals With Developmental Hip Dysplasia Recruiting NCT04006574
62 Periacetabular Osteotomy With and Without Arthroscopic Management of Central Compartment Pathology: A Multicenter Randomized Controlled Trial Recruiting NCT03481010
63 Total Hip Replacement - MP-1 Acetabular Liner Recruiting NCT02503891
64 The Effect of PAO Followed by Progressive Resistance Training Versus Progressive Resistance Training in Patients With Hip Dysplasia. A Randomized Controlled Trial Recruiting NCT03941171
65 A Prospective Cohort Study on Targeted Exercise and Changes in Femoroacetabular Impingement in Symptomatic Patients With Acetabular Retroversion (TILT-FAI) Recruiting NCT03578562
66 Normative Radiographic Parameters and Growth Curve of Hips Less Than Six Weeks of Gestational Age Using Ultrasound Recruiting NCT03109444
67 Research for Genetic Factors Involved in Congenital Dislocation of Hip: Genome-wide Association Study in Grand West France Recruiting NCT02900482
68 ORCHID: Osteotomy vs Resection in CP Hip for Irreducible Dislocations: A Randomized Controlled Trial Comparing McHale to Castle Techniques Recruiting NCT02259140
69 AMIStem Primary Hip System Prospective Post-marketing Multi-centre Surveillance Study Active, not recruiting NCT01107340
70 Prospective, Multi Centre Evaluation of AVANTAGE® RELOAD Double Mobility Acetabular Cup - Clinical and Radiographic Outcomes Active, not recruiting NCT03357445
71 Zimmer® Maxera™ Acetabular System in Total Hip Arthroplasty. A Multicenter, Prospective, Non-controlled Post Market Clinical Follow-up Study Active, not recruiting NCT03372278
72 Analysis of Clinical Outcome and Implant Migration of the Cementless Tri-Fit Total Hip Replacement System Active, not recruiting NCT02162186
73 Post Market Clinical Follow-up Study of the Zimmer Vivacit-E Highly Crosslinked Polyethylene Liner Used With the Continuum Acetabular Shell Active, not recruiting NCT03226808
74 Three Novel Radiological Indicators for Diagnosis of Adult Acetabular Dysplasia: a Self-controlled, Diagnostic Trial Active, not recruiting NCT03541122
75 Discovering the Gene(s) Causing Developmental Dysplasia of the Hip Active, not recruiting NCT01193673
76 Stress Analysis of Hip Dysplasia After Corrective Surgery Enrolling by invitation NCT01575977
77 The Effect of Intravenous Tranexamic Acid on Blood Loss and Transfusion After Periacetabular Osteotomy: a Prospective, Double-blinded, Randomized Controlled Trial Enrolling by invitation NCT02253810 Tranexamic Acid;Placebo
78 A Multi-center Study on the Opportunity and Treatment of Residual Deformity After Reduction in Developmental Dislocation of the Hip Not yet recruiting NCT02163603
79 Psychosocial Interventions for Young Adults With Hip Pain Not yet recruiting NCT04039386
80 Investigation of the Value of Femoral Shortening Osteotomy During Open Treatment of Developmental Dislocation of the Hip in Waliking Age Group Not yet recruiting NCT02633904
81 Evaluation of Closed Reduction for Treatment of Developmental Dysplasia of the Hip in Children Not yet recruiting NCT03193385
82 How Should Stable Graf Type IIc Hips be Treated With Pavlik Harness? Not yet recruiting NCT03275805
83 Periacetabular Osteotomy Versus Arthroscopic Management of Mild Hip Dysplasia: A Randomized Clinical Trial Withdrawn NCT03530878

Search 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 29 UFSP2

Anatomical Context for Beukes Hip Dysplasia

MalaCards organs/tissues related to Beukes Hip Dysplasia:

41
Bone

Publications for Beukes Hip Dysplasia

Articles related to Beukes Hip Dysplasia:

(showing 8, show less)
# 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. 38 6 8 71
26428751 2015
2
Beukes familial hip dysplasia: an autosomal dominant entity. 38 6 8 71
2389793 1990
3
Structure of ubiquitin-fold modifier 1-specific protease UfSP2. 71
21228277 2011
4
Stratification analysis of an osteoarthritis genome screen-suggestive linkage to chromosomes 4, 6, and 16. 8
10577938 1999
5
Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35. 8
10053028 1999
6
Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1. 8
7864044 1994
7
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 38
28892125 2018
8
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. 9
9295084 1997

Variations for Beukes Hip Dysplasia

ClinVar genetic disease variations for Beukes Hip Dysplasia:

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

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

74 (showing 1, show less)
# 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

Sources for Beukes Hip Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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