Aliases & Classifications for Protrusio Acetabuli

MalaCards integrated aliases for Protrusio Acetabuli:

Name: Protrusio Acetabuli 57 6

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
protrusio acetabuli:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 177050
MedGen 42 C0409495
ICD10 33 M24.7

Summaries for Protrusio Acetabuli

MalaCards based summary : Protrusio Acetabuli is related to arthritis 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 bone, cortex and colon, and related phenotypes are protrusio acetabuli and hip contracture

Wikipedia : 76 Protrusio acetabuli is an uncommon defect of the acetabulum. The acetabulum is the socket that receives... more...

Description 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 16)
# Related Disease Score Top Affiliating Genes
1 arthritis 10.7
2 marfan syndrome 10.7
3 rheumatoid arthritis 10.7
4 sickle cell anemia 10.4
5 arthrogryposis, distal, type 9 10.2
6 osteoporosis 10.2
7 brittle bone disorder 10.2
8 osteonecrosis 10.2
9 stickler syndrome 10.2
10 osteomalacia 10.2
11 spondyloarthropathy 10.2
12 acrodysostosis 10.2
13 juvenile rheumatoid arthritis 10.2
14 spondylosis 9.8 VDR ESR1
15 bone resorption disease 9.8 VDR ESR1
16 bone remodeling disease 9.7 VDR ESR1

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



Diseases related to Protrusio Acetabuli

Symptoms & Phenotypes for Protrusio Acetabuli

Symptoms via clinical synopsis from OMIM:

57
Radiology:
protrusio acetabuli

Joints:
hip flexion contractures
hip pain and stiffness


Clinical features from OMIM:

177050

Human phenotypes related to Protrusio Acetabuli:

32
# Description HPO Frequency HPO Source Accession
1 protrusio acetabuli 32 HP:0003179
2 hip contracture 32 HP:0003273
3 hip pain 32 HP:0030838

MGI Mouse Phenotypes related to Protrusio Acetabuli:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.58 ESR1 FBN1 VDR
2 integument MP:0010771 9.54 ESR1 FBN1 VDR
3 limbs/digits/tail MP:0005371 9.5 ESR1 FBN1 VDR
4 muscle MP:0005369 9.43 ESR1 FBN1 VDR
5 renal/urinary system MP:0005367 9.33 ESR1 FBN1 VDR
6 reproductive system MP:0005389 9.13 ESR1 FBN1 VDR
7 skeleton MP:0005390 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 Cemented Femoral Stems Active, not recruiting NCT02397746
2 PMCF Study Protocol for PROFEMUR® Gladiator Plasma Femoral Stems and PROCOTYL® L Beaded Acetabular Components Enrolling by invitation NCT02823834
3 Post Market Clinical Follow-Up Study Protocol for PROFEMUR® L Revision Femoral Stems Enrolling by invitation NCT02314702
4 Post Market Clinical Follow-Up Study Protocol for PROFEMUR® Gladiator HA Coated Modular Femoral Stems Enrolling by invitation NCT02314611
5 Post Market Clinical Follow-up Study Protocol for PROFEMUR® Xm Femoral Stems Enrolling by invitation NCT02309593
6 Post Market Clinical Follow-Up Study Protocol for CONSERVE® Press-Fit Femoral Components Enrolling by invitation NCT02285842
7 Post Market Clinical Follow-Up Study Protocol for PROFEMUR® TL Modular Femoral Stems Enrolling by invitation NCT02239783
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 PROCOTYL® C Acetabular Components Not yet recruiting NCT03576573
10 PMCF Study 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:

41
Bone, Cortex, Colon, Prostate

Publications for Protrusio Acetabuli

Articles related to Protrusio Acetabuli:

(show top 50) (show all 89)
# Title Authors Year
1
Delayed presentation of bilateral central hip protrusio acetabuli: evidence-based management. ( 30068579 )
2018
2
CORR Insights<sup>Ar</sup>: Hips With Protrusio Acetabuli Are at Increased Risk for Failure After Femoroacetabular Impingement Surgery: A 10-year Followup. ( 27562788 )
2016
3
Hips With Protrusio Acetabuli Are at Increased Risk for Failure After Femoroacetabular Impingement Surgery: A 10-year Followup. ( 27278677 )
2016
4
Erratum to: Hips With Protrusio Acetabuli Are at Increased Risk for Failure After Femoroacetabular Impingement Surgery: A 10-year Followup. ( 27334318 )
2016
5
Long-term results of the uncemented acetabular component in a primary total hip arthroplasty performed for protrusio acetabuli: a fifteen year median follow-up. ( 25381592 )
2015
6
Protrusio acetabuli: joint loading with severe pincer impingement and its theoretical implications for surgical therapy. ( 25297821 )
2015
7
Protrusio acetabuli: a rare cause of pulmonary embolus. ( 26153279 )
2015
8
Analysis of Protrusio Acetabuli Using a CT-based Diagnostic Method in Korean Patients with Marfan Syndrome: Prevalence and Association with Other Manifestations. ( 26339165 )
2015
9
Bilateral protrusio acetabuli of the hip. ( 24639332 )
2014
10
Arthroscopic management of protrusio acetabuli. ( 24209674 )
2013
11
CORR InsightsAr: restoration of the hip center during THA performed for protrusio acetabuli is associated with better implant survival. ( 23793791 )
2013
12
Restoration of the hip center during THA performed for protrusio acetabuli is associated with better implant survival. ( 23703532 )
2013
13
Protrusio acetabuli: some questions. ( 22920420 )
2012
14
Protrusio acetabuli: contraindication or indication for hip arthroscopy? And the case for arthroscopic treatment of global pincer impingement. ( 22551946 )
2012
15
Protrusio Acetabuli Prosthetica - a cause of a Pelvic Mass Presenting to the Gynaecologist. ( 27298861 )
2012
16
Protrusio acetabuli and total hip arthroplasty in patients with Marfan syndrome. ( 21975190 )
2012
17
CT of the hips in the investigation of protrusio acetabuli in Marfan syndrome. A case control study. ( 21318473 )
2011
18
Total hip arthroplasty with bone grafts for protrusio acetabuli. ( 22147436 )
2011
19
Primary protrusio acetabuli in childhood. ( 20936515 )
2010
20
Protrusio acetabuli: new insights and experience with joint preservation. ( 19408062 )
2009
21
Fibrillin 1 gene with R2726W mutation is absent in patients with primary protrusio acetabuli and developmental dysplasia of the hip. ( 19396033 )
2009
22
Acetabular fracture and protrusio acetabuli in an elderly patient following a fall. ( 19721218 )
2009
23
Primary total hip arthroplasty using a dual-geometry cup to treat protrusio acetabuli. ( 18534486 )
2008
24
Results of acetabular wiremesh and autograft in protrusio acetabuli. ( 18645970 )
2008
25
Vitamin D and oestrogen receptor polymorphisms in developmental dysplasia of the hip and primary protrusio acetabuli--a preliminary study. ( 17598904 )
2007
26
New finding of protrusio acetabuli in two families with congenital contractural arachnodactyly. A report of seven cases. ( 17403810 )
2007
27
Atraumatic acetabular fracture in secondary protrusio acetabuli: a case report. ( 17592718 )
2007
28
Primary total hip arthroplasty in protrusio acetabuli using impacted morsellized bone grafting and cementless cups: a medium-term radiographic review. ( 18078883 )
2007
29
Protrusio acetabuli in Marfan syndrome: age-related prevalence and associated hip function. ( 16510812 )
2006
30
Protrusio acetabuli in Marfan syndrome. History, diagnosis, and treatment. ( 16510833 )
2006
31
The aetiology of protrusio acetabuli. Literature review from 1824 to 2006. ( 17152413 )
2006
32
Isolated inflammatory coxitis associated with protrusio acetabuli: a new form of juvenile idiopathic arthritis? ( 15494352 )
2005
33
Results of total hip arthroplasty with bone graft and support ring for protrusio acetabuli in rheumatoid arthritis. ( 15666116 )
2005
34
Protrusio acetabuli. ( 16022223 )
2005
35
Protrusio acetabuli in Marfan syndrome: indication for surgery in skeletally immature Marfan patients. ( 16199939 )
2005
36
Protrusio acetabuli presenting as a complex pelvic mass after total hip arthroplasty. ( 15516447 )
2004
37
Femoral neck fracture complicating protrusio acetabuli. ( 28124334 )
2002
38
Protrusio acetabuli: diagnosis and treatment. ( 11281632 )
2001
39
The incidence of protrusio acetabuli in Marfan's syndrome and its relationship to bone mineral density. ( 11097242 )
2000
40
Cementless cup supporter for protrusio acetabuli in patients with rheumatoid arthritis. ( 10774855 )
2000
41
Protrusio acetabuli in Marfan's syndrome. ( 10050736 )
1999
42
Protrusio acetabuli and bilateral basicervical femoral neck fractures in a patient with Marfan syndrome. ( 9349891 )
1997
43
Protrusio acetabuli: its occurrence in the completely expressed Marfan syndrome and its musculoskeletal component and a procedure to arrest the course of protrusion in the growing pelvis. ( 8906639 )
1996
44
Protrusio acetabuli in seronegative spondyloarthropathy. ( 8122118 )
1993
45
Protrusio acetabuli in juvenile rheumatoid arthritis. ( 8467610 )
1993
46
Bipolar socket in protrusio acetabuli. 3-6-year study. ( 8409993 )
1993
47
Rapidly progressive protrusio acetabuli in patients with rheumatoid arthritis. ( 8472412 )
1993
48
Total hip arthroplasty for protrusio acetabuli: a 3- to 9-year follow up of the Heywood technique. ( 1738706 )
1992
49
Protrusio acetabuli in neurofibromatosis: nondysplastic and dysplastic forms. ( 1584354 )
1992
50
Protrusio acetabuli in adult rheumatoid arthritis. ( 1914416 )
1991

Variations for Protrusio Acetabuli

ClinVar genetic disease variations for Protrusio Acetabuli:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.8016T> G (p.Cys2672Trp) single nucleotide variant Likely pathogenic rs1057518883 GRCh38 Chromosome 15, 48415571: 48415571
2 FBN1 NM_000138.4(FBN1): c.8016T> G (p.Cys2672Trp) single nucleotide variant Likely pathogenic rs1057518883 GRCh37 Chromosome 15, 48707768: 48707768

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 ESR1 VDR
2 10.84 ESR1 VDR
3 10.3 ESR1 VDR

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 transcription, DNA-templated GO:0006351 9.32 ESR1 VDR
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.26 ESR1 VDR
3 skeletal system development GO:0001501 9.16 FBN1 VDR
4 steroid hormone mediated signaling pathway GO:0043401 8.96 ESR1 VDR
5 mammary gland branching involved in pregnancy GO:0060745 8.62 ESR1 VDR

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.16 ESR1 VDR
2 steroid hormone receptor activity GO:0003707 8.96 ESR1 VDR
3 nuclear receptor activity GO:0004879 8.62 ESR1 VDR

Sources for Protrusio Acetabuli

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