MCID: JNT001
MIFTS: 24

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 57 53 73
Familial Joint Instability Syndrome 57 53 59
Articular Hypermobility Syndrome 57 53
Joint Instability Syndrome 53 59
Ehlers-Danlos Syndrome, Type Xi, Formerly 57
Familial Articular Hypermobility Syndrome 59
Familial Joint Laxity 59
Eds Xi, Formerly 57
Eds11, Formerly 57

Characteristics:

Orphanet epidemiological data:

59
familial articular hypermobility syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
joint laxity, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 147900
Orphanet 59 ORPHA2295
UMLS via Orphanet 74 C0268349
ICD10 via Orphanet 34 Q79.6
MedGen 42 C0268349
UMLS 73 C0268349

Summaries for Joint Laxity, Familial

NIH Rare Diseases : 53 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. An important gene associated with Joint Laxity, Familial is TAB2 (TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2). Affiliated tissues include skin and bone, and related phenotypes are inguinal hernia and joint hyperflexibility

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

Symptoms via clinical synopsis from OMIM:

57
Joints:
congenital hip dislocation
joint laxity
patella dislocation
recurrent joint dislocation


Clinical features from OMIM:

147900

Human phenotypes related to Joint Laxity, Familial:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
2 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
3 congenital hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001374
4 abnormality of femur morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002823
5 patellar dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002999
6 abnormality of the elbow 59 32 occasional (7.5%) Occasional (29-5%) HP:0009811
7 shoulder dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003834
8 joint laxity 32 HP:0001388
9 abnormality of the knee 59 Frequent (79-30%)
10 recurrent joint dislocation 32 HP:0031869

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:

41
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 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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