Aliases & Classifications for Protrusio Acetabuli

MalaCards integrated aliases for Protrusio Acetabuli:

Name: Protrusio Acetabuli 57 6 32

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
protrusio acetabuli:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 177050
ICD10 32 M24.7
MedGen 41 C0409495

Summaries for Protrusio Acetabuli

MalaCards based summary : Protrusio Acetabuli is related to scoliosis and marfan syndrome. An important gene associated with Protrusio Acetabuli is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Nuclear Receptor transcription pathway and Regulation of nuclear SMAD2/3 signaling. Affiliated tissues include cortex, bone and colon, and related phenotypes are protrusio acetabuli and hip contracture

Wikipedia : 73 Protrusio acetabuli is an uncommon defect of the acetabulum. The acetabulum is the socket that receives... more...

More information from OMIM: 177050

Related Diseases for Protrusio Acetabuli

Diseases related to Protrusio Acetabuli via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 scoliosis 29.5 VDR FBN1 ESR1
2 marfan syndrome 10.6
3 spondyloarthropathy 1 10.3
4 developmental dysplasia of the hip 1 10.3
5 brittle bone disorder 10.3
6 sickle cell anemia 10.3
7 osteonecrosis 10.3
8 osteomalacia 10.3
9 inflammatory spondylopathy 10.3
10 exostosis 10.3
11 spondylitis 10.3
12 juvenile rheumatoid arthritis 10.3
13 contractural arachnodactyly, congenital 10.1
14 osteoporosis 10.1
15 peripheral dysostosis 10.1
16 rheumatoid arthritis 10.1
17 body mass index quantitative trait locus 1 10.1
18 bone mineral density quantitative trait locus 8 10.1
19 bone mineral density quantitative trait locus 15 10.1
20 stickler syndrome 10.1
21 aortic dissection 10.1
22 isolated ectopia lentis 10.1
23 spondyloarthropathy 10.1
24 myopia 10.1
25 acrodysostosis 10.1
26 dysostosis 10.1
27 ankylosis 10.1
28 bone inflammation disease 10.1
29 mammary paget's disease 10.1
30 arthropathy 10.1
31 arthritis 10.1
32 neurofibromatosis 10.1
33 pulmonary embolism 10.1
34 neurofibroma 10.1
35 spondylosis 9.8 VDR ESR1
36 bone resorption disease 9.7 VDR ESR1
37 idiopathic scoliosis 9.7 FBN1 ESR1
38 bone remodeling disease 9.7 VDR ESR1
39 pelvic organ prolapse 9.7 FBN1 ESR1
40 bone cancer 9.7 VDR ESR1
41 distal arthrogryposis 9.6 FBN1 ESR1
42 bone disease 9.6 VDR ESR1
43 cardiovascular system disease 9.5 VDR ESR1
44 skin carcinoma 9.4 VDR FBN1 ESR1

Graphical network of the top 20 diseases related to Protrusio Acetabuli:



Diseases related to Protrusio Acetabuli

Symptoms & Phenotypes for Protrusio Acetabuli

Human phenotypes related to Protrusio Acetabuli:

31
# Description HPO Frequency HPO Source Accession
1 protrusio acetabuli 31 HP:0003179
2 hip contracture 31 HP:0003273
3 hip pain 31 HP:0030838

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Radiology:
protrusio acetabuli

Joints:
hip flexion contractures
hip pain and stiffness

Clinical features from OMIM®:

177050 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Protrusio Acetabuli:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.33 ESR1 FBN1 VDR
2 muscle MP:0005369 9.13 ESR1 FBN1 VDR
3 renal/urinary system MP:0005367 8.8 ESR1 FBN1 VDR

Drugs & Therapeutics for Protrusio Acetabuli

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Post Market Clinical Follow-Up Study Protocol for PROFEMUR® Gladiator HA Coated Modular Femoral Stems Active, not recruiting NCT02314611
2 Post Market Clinical Follow-up Study Protocol for PROFEMUR® Xm Femoral Stems Active, not recruiting NCT02309593
3 Post Market Clinical Follow-Up Study Protocol for PROFEMUR® Gladiator Cemented Femoral Stems Active, not recruiting NCT02397746
4 Post Market Clinical Follow-Up Study Protocol for CONSERVE® Press-Fit Femoral Components Enrolling by invitation NCT02285842
5 Post Market Clinical Follow-up Study Protocol for PROFEMUR® Gladiator Plasma Femoral Stems and PROCOTYL® L Beaded Acetabular Components Enrolling by invitation NCT02823834
6 Post Market Clinical Follow-Up Study Protocol for PROFEMUR® TL Modular Femoral Stems Enrolling by invitation NCT02239783
7 Post Market Clinical Follow-Up Study for PROFEMUR® Preserve Classic Femoral Stem Enrolling by invitation NCT04147559
8 Post Market Clinical Follow-up Study Protocol for DYNASTY® BioFoam® Acetabular Components Enrolling by invitation NCT02149667
9 Post Market Clinical Follow-Up Study Protocol for PROFEMUR® Am Femoral Components and PROCOTYL® O HA Coated Acetabular Components Withdrawn NCT02507258

Search NIH Clinical Center for Protrusio Acetabuli

Genetic Tests for Protrusio Acetabuli

Anatomical Context for Protrusio Acetabuli

MalaCards organs/tissues related to Protrusio Acetabuli:

40
Cortex, Bone, Colon

Publications for Protrusio Acetabuli

Articles related to Protrusio Acetabuli:

(show top 50) (show all 219)
# Title Authors PMID Year
1
Primary protrusio acetabuli in four generations of an Italian family. 57 61
7218282 1980
2
A family with primary protrusio acetabuli. 61 57
629604 1978
3
Primary protrusio acetabuli. Report of an affected family. 61 57
5578763 1971
4
The etiology, development, and the effect upon pregnancy of protrusio acetabuli (Otti pelvis). 57 61
13824397 1959
5
Protrusio acetabuli. 57 61
13058047 1953
6
Pseudo-Protrusio Acetabular Deformity in Osteogenesis Imperfecta Patients. 61
33534367 2021
7
[Hip arthroscopy technique]. 61
33533950 2021
8
[How I explore... protrusio acetabuli in children]. 61
33443331 2021
9
Interobserver and intraobserver reliability of a new radiological classification for femoroacetabular impingement syndrome. 61
31363929 2020
10
Protrusio acetabulae as a sequel to septic arthritis of the hip with obturator internus pyomyositis. 61
33136794 2020
11
Protrusio Acetabuli. 61
32604243 2020
12
Location of Intra- and Extra-articular Hip Impingement Is Different in Patients With Pincer-Type and Mixed-Type Femoroacetabular Impingement Due to Acetabular Retroversion or Protrusio Acetabuli on 3D CT-Based Impingement Simulation. 61
31961701 2020
13
The Prevalence of Radiographic Findings of Structural Hip Deformities for Femoroacetabular Impingement in Patients With Hip Pain. 61
31922893 2020
14
Bilateral fractures of acetabulum in a young girl with osteogenesis imperfecta and epilepsy. 61
31828198 2020
15
Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study. 61
31825148 2020
16
Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation. 61
31472299 2020
17
Total hip arthroplasty for Protrusio Acetabuli in a young adult Osteogenesis Imperfecta features and Marfanoid features: A case report. 61
32001993 2020
18
Long-term results of total hip arthroplasty in developmental dysplasia of hip patients. 61
32584729 2020
19
Limitations of arthroscopy for managing coxa profunda. 61
31672415 2019
20
Evidence of aortic dissection and Marfan syndrome in a mummy from the Capuchin Catacombs of Palermo, Sicily. 61
29890445 2018
21
Delayed presentation of bilateral central hip protrusio acetabuli: evidence-based management. 61
30068579 2018
22
Total hip arthroplasty to treat acetabular protrusions secondary to rheumatoid arthritis. 61
29673377 2018
23
Traumatic Hip Dislocations in an Orthopedic Center in Lagos. 61
31263318 2018
24
Hemiarthroplasty proximal femoral endoprostheses following tumour reconstruction: is acetabular replacement necessary? 61
29305458 2018
25
CORR Insights®: Hips With Protrusio Acetabuli Are at Increased Risk for Failure After Femoroacetabular Impingement Surgery: A 10-year Followup. 61
27562788 2016
26
Hips With Protrusio Acetabuli Are at Increased Risk for Failure After Femoroacetabular Impingement Surgery: A 10-year Followup. 61
27278677 2016
27
Erratum to: Hips With Protrusio Acetabuli Are at Increased Risk for Failure After Femoroacetabular Impingement Surgery: A 10-year Followup. 61
27334318 2016
28
Prevalence of Radiographic Osteoarthritis and Structural Abnormalities of the Hip in Patients with Contralateral Hip Fractures. 61
29952457 2016
29
Reconstruction of Massive Posterior Nonrepairable Acetabular Labral Tears With Peroneus Brevis Tendon Allograft: Arthroscopy-Assisted Mini-Open Approach. 61
27909669 2016
30
Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome). 61
27251659 2016
31
Measures of hip morphology are related to development of worsening radiographic hip osteoarthritis over 6 to 13 year follow-up: the Johnston County Osteoarthritis Project. 61
26497609 2016
32
The radiological evaluation of the hip joint after prosthetic arthroplasty of the proximal femur in patients with a tumour using a bipolar femoral head. 61
26637688 2015
33
Analysis of Protrusio Acetabuli Using a CT-based Diagnostic Method in Korean Patients with Marfan Syndrome: Prevalence and Association with Other Manifestations. 61
26339165 2015
34
Tissue preserving total hip arthroplasty using superior capsulotomy. 61
25900826 2015
35
Protrusio acetabuli: a rare cause of pulmonary embolus. 61
26153279 2015
36
Long-term results of the uncemented acetabular component in a primary total hip arthroplasty performed for protrusio acetabuli: a fifteen year median follow-up. 61
25381592 2015
37
[CEMENTLESS TOTAL HIP ARTHROPLASTY AND IMPACTED BONE GRAFTING FOR PROTRUSIO ACETABULI IN PATIENTS WITH RHEUMATOID ARTHRITIS]. 61
26455141 2015
38
Complications Encountered with Total Hip Arthroplasty in Rheumatoid Patients. 61
26002450 2015
39
Protrusio acetabuli: joint loading with severe pincer impingement and its theoretical implications for surgical therapy. 61
25297821 2015
40
Challenges and solutions in the fixation of a hip fracture in the presence of a contralateral ankylosed hip: a case report. 61
25044268 2014
41
Tuberculosis of the hip in children: A retrospective analysis of 27 patients. 61
25298552 2014
42
Femoroacetabular impingement: biomechanical and dynamic considerations. 61
25409718 2014
43
Size and shape of the lunate surface in different types of pincer impingement: theoretical implications for surgical therapy. 61
24857978 2014
44
The Exeter method-acetabular impaction grafting with cemented reimplantation. 61
24691909 2014
45
Ewing sarcoma of the acetabulum in children: a "growth plate-based" surgical strategy. 61
24172666 2014
46
Bilateral protrusio acetabuli of the hip. 61
24639332 2014
47
Bilateral hip arthritis in a case of renal osteodystrophy. 61
24554674 2014
48
[A giant hydatid cyst localized in pelvis and thigh]. 61
25036401 2014
49
Arthroscopic management of protrusio acetabuli. 61
24209674 2013
50
Frequency of radiographic signs of slipped capital femoral epiphysiolysis sequelae in hip arthroplasty candidates for coxarthrosis. 61
24060686 2013

Variations for Protrusio Acetabuli

ClinVar genetic disease variations for Protrusio Acetabuli:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBN1 NM_000138.4(FBN1):c.8016T>G (p.Cys2672Trp) SNV Likely pathogenic 374081 rs1057518883 GRCh37: 15:48707768-48707768
GRCh38: 15:48415571-48415571

Expression for Protrusio Acetabuli

Search GEO for disease gene expression data for Protrusio Acetabuli.

Pathways for Protrusio Acetabuli

Pathways related to Protrusio Acetabuli according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.11 VDR ESR1
2 10.84 VDR ESR1
3 10.35 VDR ESR1

GO Terms for Protrusio Acetabuli

Biological processes related to Protrusio Acetabuli according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.32 VDR ESR1
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.26 VDR ESR1
3 skeletal system development GO:0001501 9.16 VDR FBN1
4 intracellular receptor signaling pathway GO:0030522 8.96 VDR ESR1
5 mammary gland branching involved in pregnancy GO:0060745 8.62 VDR ESR1

Molecular functions related to Protrusio Acetabuli according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor activity GO:0004879 8.62 VDR ESR1

Sources for Protrusio Acetabuli

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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