MCID: JNT001
MIFTS: 22

Joint Laxity, Familial

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

Aliases & Classifications for Joint Laxity, Familial

MalaCards integrated aliases for Joint Laxity, Familial:

Name: Joint Laxity, Familial 58 54 74
Familial Joint Instability Syndrome 58 54 60
Articular Hypermobility Syndrome 58 54
Joint Instability Syndrome 54 60
Ehlers-Danlos Syndrome, Type Xi, Formerly 58
Familial Articular Hypermobility Syndrome 60
Familial Joint Laxity 60
Eds Xi, Formerly 58
Eds11, Formerly 58

Characteristics:

Orphanet epidemiological data:

60
familial articular hypermobility syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
joint laxity, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 147900
ICD10 via Orphanet 35 Q79.6
UMLS via Orphanet 75 C0268349
Orphanet 60 ORPHA2295
MedGen 43 C0268349
UMLS 74 C0268349

Summaries for Joint Laxity, Familial

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2295Disease definitionEhlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominanttrait, with high penetrance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Joint Laxity, Familial, also known as familial joint instability syndrome, is related to ehlers-danlos syndrome, hypermobility type and hypermobility syndrome. Affiliated tissues include skin and bone, and related phenotypes are joint hyperflexibility and congenital hip dislocation

Description from OMIM: 147900

Related Diseases for Joint Laxity, Familial

Diseases related to Joint Laxity, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, hypermobility type 11.1
2 hypermobility syndrome 10.2
3 ehlers-danlos syndrome 10.0
4 developmental dysplasia of the hip 1 10.0
5 renal dysplasia 10.0

Graphical network of the top 20 diseases related to Joint Laxity, Familial:



Diseases related to Joint Laxity, Familial

Symptoms & Phenotypes for Joint Laxity, Familial

Human phenotypes related to Joint Laxity, Familial:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
2 congenital hip dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001374
3 patellar dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002999
4 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
5 abnormality of femur morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0002823
6 abnormality of the elbow 60 33 occasional (7.5%) Occasional (29-5%) HP:0009811
7 shoulder dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0003834
8 joint laxity 33 HP:0001388
9 abnormality of the knee 60 Frequent (79-30%)
10 recurrent joint dislocation 33 HP:0031869

Symptoms via clinical synopsis from OMIM:

58
Joints:
congenital hip dislocation
joint laxity
patella dislocation
recurrent joint dislocation

Clinical features from OMIM:

147900

Drugs & Therapeutics for Joint Laxity, Familial

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Does Shoulder Stabilizations Stabilize Shoulders? Completed NCT02725333 Not Applicable

Search NIH Clinical Center for Joint Laxity, Familial

Genetic Tests for Joint Laxity, Familial

Anatomical Context for Joint Laxity, Familial

MalaCards organs/tissues related to Joint Laxity, Familial:

42
Skin, Bone

Publications for Joint Laxity, Familial

Articles related to Joint Laxity, Familial:

# Title Authors Year
1
Familial joint instability syndrome. ( 7424974 )
1980

Variations for Joint Laxity, Familial

Expression for Joint Laxity, Familial

Search GEO for disease gene expression data for Joint Laxity, Familial.

Pathways for Joint Laxity, Familial

GO Terms for Joint Laxity, Familial

Sources for Joint Laxity, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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