BHD
MCID: BKS003
MIFTS: 44

Beukes Hip Dysplasia (BHD)

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

Aliases & Classifications for Beukes Hip Dysplasia

MalaCards integrated aliases for Beukes Hip Dysplasia:

Name: Beukes Hip Dysplasia 57 12 73 36 29 6 15
Beukes Familial Hip Dysplasia 57 12 20 58 73 13
Hip Dysplasia, Beukes Type 57 58 73 44 71
Bfhd 57 12 20 58 73
Cilliers-Beighton Syndrome 12 20 58
Premature Degenerative Osteoarthropathy of the Hip 12 58
Osteoarthropathy, Premature Degenerative, of Hip 57 20
Premature Degenerative Osteoarthropathy 73
Beukes Familial Hip Dysplasia; Bfhd 57
Hip Dislocation, Congenital 44
Dysplasia, Hip, Beukes Type 39
Beukes Type Hip Dysplasia 12
Hip Dysplasia Beukes Type 20
Bhd 57

Characteristics:

Orphanet epidemiological data:

58
hip dysplasia, beukes type
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
beukes hip dysplasia:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111367
OMIM® 57 142669
KEGG 36 H01817
SNOMED-CT 67 721148005
ICD10 via Orphanet 33 Q65.8
UMLS via Orphanet 72 C1840572
Orphanet 58 ORPHA2114
MedGen 41 C1840572
UMLS 71 C1840572

Summaries for Beukes Hip Dysplasia

GARD : 20 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 cyprus facial neuromusculoskeletal syndrome. An important gene associated with Beukes Hip Dysplasia is UFSP2 (UFM1 Specific Peptidase 2), and among its related pathways/superpathways is miRNA targets in ECM and membrane receptors. The drugs Clonidine and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are hip dysplasia and abnormality of bone mineral density

Disease Ontology : 12 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.

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 05-Mar-2021)

KEGG : 36 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 : 73 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:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 birt-hogg-dube syndrome 11.6
2 cyprus facial neuromusculoskeletal syndrome 11.1
3 pneumothorax, primary spontaneous 11.1
4 renal cell carcinoma, nonpapillary 11.1
5 discoid fibromas, familial multiple 10.9
6 kidney cancer 10.3
7 pneumothorax 10.3
8 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2
9 bone disease 10.2
10 skeletal dysplasias 10.2
11 osteoarthritis 10.2
12 multiple epiphyseal dysplasia, autosomal dominant 10.2
13 polycystic liver disease 1 with or without kidney cysts 10.1
14 oncocytoma 10.1
15 erythrokeratoderma ''en cocardes'' 10.1
16 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
17 chromophobe renal cell carcinoma 10.0
18 developmental dysplasia of the hip 1 10.0 COL6A2 COL5A1
19 amyotrophic lateral sclerosis 1 9.8
20 colorectal cancer 9.8
21 tuberous sclerosis 2 9.8
22 familial adenomatous polyposis 9.8
23 osteomyelitis 9.8
24 tuberous sclerosis 9.8
25 lateral sclerosis 9.8
26 adenocarcinoma 9.8
27 cystadenocarcinoma 9.8
28 purpura 9.8
29 hereditary renal cell carcinoma 9.8
30 familial renal oncocytoma 9.8
31 renal oncocytoma 9.8
32 adenoma 9.8
33 fibromatosis 9.8
34 spondyloepimetaphyseal dysplasia 9.8 UFSP2 DDRGK1
35 renal cysts and diabetes syndrome 9.6 UFM1 UFL1 DDRGK1
36 deafness, autosomal dominant 70 9.5 UFSP2 UFL1 UBA5
37 autosomal recessive cerebellar ataxia 9.5 UFM1 UBA5
38 maturity-onset diabetes of the young 9.5 UFM1 UFL1 DDRGK1
39 meier-gorlin syndrome 8 9.3 UFSP2 UFM1 UFL1 UBA5

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 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hip dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001385
2 abnormality of bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004348
3 osteoarthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002758
4 broad femoral neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0006429
5 abnormal ossification involving the femoral head and neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0009107
6 abnormality of the epiphysis of the femoral head 58 31 hallmark (90%) Very frequent (99-80%) HP:0010574
7 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
8 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
9 coxa vara 58 31 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 31 HP:0005743
12 abnormal bone ossification 58 Very frequent (99-80%)
13 flat capital femoral epiphysis 31 HP:0003370
14 shallow acetabular fossae 31 HP:0003182
15 wide proximal femoral metaphysis 31 HP:0008783
16 irregular capital femoral epiphysis 31 HP:0005041

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

Drugs & Therapeutics for Beukes Hip Dysplasia

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
5
Racepinephrine Approved Phase 4 329-65-7 838
6
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
7
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
8 Sodium Chloride Symporter Inhibitors Phase 4
9 diuretics Phase 4
10 Antihypertensive Agents Phase 4
11 Sympatholytics Phase 4
12 Gentamicins Phase 4
13 Gastrointestinal Agents Phase 4
14 Hormone Antagonists Phase 4
15 Hormones Phase 4
16 glucocorticoids Phase 4
17 Antineoplastic Agents, Hormonal Phase 4
18 Antiemetics Phase 4
19 Anesthetics Phase 4
20 Anesthetics, Local Phase 4
21 Adrenergic alpha-Agonists Phase 4
22 Respiratory System Agents Phase 4
23 Anti-Asthmatic Agents Phase 4
24 Adrenergic beta-Agonists Phase 4
25 Epinephryl borate Phase 4
26 Adrenergic Agents Phase 4
27 Neurotransmitter Agents Phase 4
28 Mydriatics Phase 4
29 Sympathomimetics Phase 4
30 Analgesics Phase 4
31 Vasoconstrictor Agents Phase 4
32 Bronchodilator Agents Phase 4
33 Adrenergic Agonists Phase 4
34 Pharmaceutical Solutions Phase 4
35 Anti-Inflammatory Agents Phase 4
36 Analgesics, Non-Narcotic Phase 4
37 Anti-Inflammatory Agents, Non-Steroidal Phase 4
38 Antirheumatic Agents Phase 4
39 Cyclooxygenase Inhibitors Phase 4
40
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
41
tannic acid Approved 1401-55-4
42
Tranexamic Acid Approved 1197-18-8 5526
43
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474
44
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
45
Acetaminophen Approved 103-90-2 1983
46 Hemostatics
47 Coagulants
48 Antifibrinolytic Agents

Interventional clinical trials:

(show top 50) (show all 97)
# 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 A Prospective, Randomised, Controlled, Single Centre, Blinded Study of the Wear Characteristics of Two Polyethylene Bearing Surfaces, Enduron vs. Marathon Completed NCT00208442 Phase 4
3 Reduction of Hip Arthroscopy Post-operative Pain Using Ultrasound-guided Fascia-iliaca Block Completed NCT02365961 Phase 4 ropivicaine;clonidine;Epinephrine;Noropin
4 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
5 High vs Low Dose Dexamethasone on Complications in the Immediate Postoperative Phase After Periacetabular (GANZ) Osteotomy Completed NCT03161938 Phase 4 Dexamethasone
6 Efficacy of a Peri-Operative Surgical-Site, Multimodal Drug Injection in Pediatric Patients With Cerebral Palsy Undergoing Hip Surgery: A Randomized Controlled Trial Recruiting NCT04074265 Phase 4 Ropivacaine injection;normal saline
7 Quadratus Lumborum vs Erector Spinae Supplementary Blocks With Lumbar Plexus Blocks for Hip PAO Recruiting NCT04481451 Phase 4 Ropivacaine
8 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
9 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
10 DURALOC® Option Ceramic-on-Ceramic Hip Prosthesis System PMA Post-approval Study Terminated NCT00546598 Phase 4
11 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
12 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
13 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
14 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
15 Multicenter Post Approval Study of the Trilogy AB(R) Acetabular System Terminated NCT00715026 Phase 4
16 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
17 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
18 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
19 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
20 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
21 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
22 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
23 The Effect of Perioperative Dexamethasone Administration on Postoperative Pain in Patients Undergoing Periacetabular Osteotomy: A Randomised Double-blind, Placebo-controlled Trial Recruiting NCT03874936 Phase 2, Phase 3 Dexamethasone 24mg Solution for Injection;Saline Solution for Injection
24 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
25 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
26 Acetabular Labral Tear in Dysplastic Hips Unknown status NCT01345838
27 Modified Triple Osteotomy for Acetabular Dysplasia - A Modified Technique for Better Femoral Head Medialization and Coverage Unknown status NCT01285154
28 Periacetabular Osteotomy With Versus Without Adjunctive Hip Arthroscopy for Intra-Articular Pathology in Hip Dysplasia: a Prospective Randomized Trial Unknown status NCT02790749
29 Universal Ultrasound-screening for Developmental Dysplasia of the Hip. 5-12 Years Followup of 4 200 Newborns Unknown status NCT01053299
30 Three Novel Radiological Indicators for Diagnosis of Adult Acetabular Dysplasia: a Self-controlled, Diagnostic Trial Unknown status NCT03541122
31 Automatic Characterization of the Neonatal Hip Using Ultrasound Imaging Unknown status NCT02796768
32 Total Hip Replacement - MP-1 Acetabular Liner Unknown status NCT02503891
33 Evaluation of Closed Reduction for Treatment of Developmental Dysplasia of the Hip in Children Unknown status NCT03193385
34 Soft Tissue Pathology in 100 Patients With Hip Dysplasia Before and After Periacetabular Osteotomy Unknown status NCT02311166
35 Research for Genetic Factors Involved in Congenital Dislocation of Hip: Genome-wide Association Study in Grand West France Unknown status NCT02900482
36 Incidence of Developmental Hip Dysplasia by Ultrasonographic Screening of Asymptomatic Infants Less Than 6 Months Old at Assiut University Hospital Outpatient Clinics Completed NCT03476915
37 Selective Ultrasound Screening for Developmental Hip Dysplasia: Effect on Management and Late Detected Cases. A Prospective Survey During 1991-2006. Completed NCT01866527
38 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
39 A Prospective Cohort Study on Targeted Exercise and Changes in Femoroacetabular Impingement in Symptomatic Patients With Acetabular Retroversion (TILT-FAI) Completed NCT03578562
40 Psychological, Sexually and Social Consequences of Osteoarthritis Treatment With Total Hip or Total Knee Arthroplasties and Joint Preserving Surgery Completed NCT01305759
41 Measurement of Metal Ion Levels and Chromosome Abnormalities in Ceramic on Metal Total Hip Arthroplasty in Vivo Completed NCT01437124
42 Post Approval Study of the C2a-Taper™ Acetabular System Completed NCT00578851
43 Discovering the Gene(s) Causing Developmental Dysplasia of the Hip Completed NCT01193673
44 Functional Capacity After Computer Assisted Periacetabular Osteotomy in Patients With Hip Dysplasia Completed NCT02015247
45 Movement Pattern in Patients With Hip Dysplasia Operated With Minimally Invasive Approach in Peri-acetabular Osteotomy (PAO) Completed NCT01344421
46 Analysis of Clinical Outcome and Implant Migration of the Cementless Tri-Fit Total Hip Replacement System Completed NCT02162186
47 Genetic Mechanisms and Additional Risk Factors Underlying Hip Dysplasia. The Bergen Birth Hip Cohort and Bergen Hip Screening Databank. Completed NCT04563819
48 Ultrasound Screening for Developmental Dysplasia of the Hip in the Neonate: The Effect on Treatment Rate and Prevalence of Late Cases Completed NCT01818934
49 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
50 Routine Follow up After THA in PAO Patient Completed NCT01657357

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:

40
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. 57 61 20 6
26428751 2015
2
Beukes familial hip dysplasia: an autosomal dominant entity. 20 61 6 57
2389793 1990
3
Structure of ubiquitin-fold modifier 1-specific protease UfSP2. 6
21228277 2011
4
Stratification analysis of an osteoarthritis genome screen-suggestive linkage to chromosomes 4, 6, and 16. 57
10577938 1999
5
Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35. 57
10053028 1999
6
Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1. 57
7864044 1994
7
Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation. 61
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. 54
9295084 1997

Variations for Beukes Hip Dysplasia

ClinVar genetic disease variations for Beukes Hip Dysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UFSP2 NM_018359.4(UFSP2):c.868T>C (p.Tyr290His) SNV Pathogenic 204613 rs796052130 4:186329553-186329553 4:185408399-185408399
2 UFSP2 NM_018359.4(UFSP2):c.1277A>C (p.Asp426Ala) SNV Pathogenic 437868 rs1554022725 4:186324694-186324694 4:185403540-185403540
3 COL6A2 NM_001849.4(COL6A2):c.1970-9G>A SNV Pathogenic 265506 rs747900252 21:47545690-47545690 21:46125776-46125776
4 COL5A1 NM_001278074.1(COL5A1):c.608G>T (p.Gly203Val) SNV Likely pathogenic 523328 rs1554781700 9:137593133-137593133 9:134701287-134701287
5 RYR1 NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) SNV Uncertain significance 93252 rs150396398 19:39057626-39057626 19:38566986-38566986
6 RYR1 NM_000540.2(RYR1):c.14713C>A (p.Pro4905Thr) SNV Uncertain significance 374142 rs1057518924 19:39075649-39075649 19:38585009-38585009

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

Pathways related to Beukes Hip Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.26 COL6A2 COL5A1

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 9.02 UFSP2 UFM1 UFL1 UBA5 DDRGK1
2 collagen trimer GO:0005581 8.96 COL6A2 COL5A1

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 9.62 UFM1 UFL1 UBA5 DDRGK1
2 negative regulation of apoptotic process GO:0043066 9.61 UFM1 UFL1 DDRGK1
3 reticulophagy GO:0061709 9.56 UFM1 UFL1 UBA5 DDRGK1
4 protein ufmylation GO:0071569 9.46 UFM1 UFL1 UBA5 DDRGK1
5 erythrocyte differentiation GO:0030218 9.4 UFL1 UBA5
6 negative regulation of IRE1-mediated unfolded protein response GO:1903895 9.37 UFL1 DDRGK1
7 protein K69-linked ufmylation GO:1990592 9.26 UFM1 UFL1 UBA5 DDRGK1
8 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.02 UFSP2 UFM1 UFL1 UBA5 DDRGK1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL6A2 COL5A1
2 thiolester hydrolase activity GO:0016790 8.96 UFSP2 UFSP1
3 UFM1 hydrolase activity GO:0071567 8.62 UFSP2 UFSP1

Sources for Beukes Hip Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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