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
SNOMED-CT via HPO 69 263681008 59606006 202283002

Summaries for Protrusio Acetabuli

MalaCards based summary : Protrusio Acetabuli is related to marfan syndrome and arthrogryposis, distal, type 9. 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 and cortex, 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:

# Related Disease Score Top Affiliating Genes
1 marfan syndrome 10.4
2 arthrogryposis, distal, type 9 10.1
3 stickler syndrome 10.1
4 spondyloarthropathy 10.1
5 acrodysostosis 10.1
6 congenital contractures 10.1
7 spondylosis 9.4 ESR1 VDR
8 bone resorption disease 9.3 ESR1 VDR
9 bone remodeling disease 9.2 ESR1 VDR
10 idiopathic scoliosis 8.9 ESR1 FBN1

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
Joints:
hip pain and stiffness
hip flexion contractures

Radiology:
protrusio acetabuli


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

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 FBN1 VDR ESR1
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 PMCF Study Protocol for PROFEMUR® Gladiator Plasma Femoral Stems and PROCOTYL® L Beaded Acetabular Components Enrolling by invitation NCT02823834
2 Post Market Clinical Follow-Up Study Protocol for PROFEMUR® Gladiator Cemented Femoral Stems Enrolling by invitation NCT02397746
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

Publications for Protrusio Acetabuli

Articles related to Protrusio Acetabuli:

(show all 30)
# Title Authors Year
1
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
2
Hips With Protrusio Acetabuli Are at Increased Risk for Failure After Femoroacetabular Impingement Surgery: A 10-year Followup. ( 27278677 )
2016
3
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
4
Protrusio acetabuli: joint loading with severe pincer impingement and its theoretical implications for surgical therapy. ( 25297821 )
2015
5
Protrusio acetabuli: a rare cause of pulmonary embolus. ( 26153279 )
2015
6
Analysis of Protrusio Acetabuli Using a CT-based Diagnostic Method in Korean Patients with Marfan Syndrome: Prevalence and Association with Other Manifestations. ( 26339165 )
2015
7
Bilateral protrusio acetabuli of the hip. ( 24639332 )
2014
8
Arthroscopic management of protrusio acetabuli. ( 24209674 )
2013
9
CORR InsightsAr: restoration of the hip center during THA performed for protrusio acetabuli is associated with better implant survival. ( 23793791 )
2013
10
Restoration of the hip center during THA performed for protrusio acetabuli is associated with better implant survival. ( 23703532 )
2013
11
Protrusio acetabuli: some questions. ( 22920420 )
2012
12
Protrusio acetabuli: contraindication or indication for hip arthroscopy? And the case for arthroscopic treatment of global pincer impingement. ( 22551946 )
2012
13
Protrusio Acetabuli Prosthetica - a cause of a Pelvic Mass Presenting to the Gynaecologist. ( 27298861 )
2012
14
Protrusio acetabuli and total hip arthroplasty in patients with Marfan syndrome. ( 21975190 )
2012
15
CT of the hips in the investigation of protrusio acetabuli in Marfan syndrome. A case control study. ( 21318473 )
2011
16
Total hip arthroplasty with bone grafts for protrusio acetabuli. ( 22147436 )
2011
17
Primary protrusio acetabuli in childhood. ( 20936515 )
2010
18
Protrusio acetabuli: new insights and experience with joint preservation. ( 19408062 )
2009
19
Fibrillin 1 gene with R2726W mutation is absent in patients with primary protrusio acetabuli and developmental dysplasia of the hip. ( 19396033 )
2009
20
Acetabular fracture and protrusio acetabuli in an elderly patient following a fall. ( 19721218 )
2009
21
Vitamin D and oestrogen receptor polymorphisms in developmental dysplasia of the hip and primary protrusio acetabuli--a preliminary study. ( 17598904 )
2007
22
New finding of protrusio acetabuli in two families with congenital contractural arachnodactyly. A report of seven cases. ( 17403810 )
2007
23
The incidence of protrusio acetabuli in Marfan's syndrome and its relationship to bone mineral density. ( 11097242 )
2000
24
Protrusio acetabuli in Marfan's syndrome. ( 10050736 )
1999
25
Protrusio acetabuli in seronegative spondyloarthropathy. ( 8122118 )
1993
26
Total hip arthroplasty for protrusio acetabuli: a 3- to 9-year follow up of the Heywood technique. ( 1738706 )
1992
27
Acrodysostosis and protrusio acetabuli. An association. ( 3339057 )
1988
28
Role of bone grafting in correction of protrusio acetabuli by total hip arthroplasty. ( 3549979 )
1986
29
Idiopathic protrusio acetabuli in juveniles. ( 7221394 )
1981
30
Hereditary arthro-ophthalmopathy (the Stickler syndrome). Report of a kindred with protrusio acetabuli. ( 880775 )
1977

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 initiation from RNA polymerase II promoter GO:0006367 9.26 ESR1 VDR
2 skeletal system development GO:0001501 9.16 FBN1 VDR
3 steroid hormone mediated signaling pathway GO:0043401 8.96 ESR1 VDR
4 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 9.26 ESR1 VDR
2 lipid binding GO:0008289 9.16 ESR1 VDR
3 steroid hormone receptor activity GO:0003707 8.96 ESR1 VDR
4 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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