MCID: SPN127
MIFTS: 15

Spondyloepimetaphyseal Dysplasia Joint Laxity

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

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia Joint Laxity

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia Joint Laxity:

Name: Spondyloepimetaphyseal Dysplasia Joint Laxity 53
Spondyloepimetaphyseal Dysplasia with Joint Laxity 53 29 6
Dysplasia, Spondyloepimetaphyseal, with Joint Laxity 40
Semdjl 53

Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia Joint Laxity

MalaCards based summary : Spondyloepimetaphyseal Dysplasia Joint Laxity, also known as spondyloepimetaphyseal dysplasia with joint laxity, is related to spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures and spondyloepimetaphyseal dysplasia with joint laxity, type 2. An important gene associated with Spondyloepimetaphyseal Dysplasia Joint Laxity is B3GALT6 (Beta-1,3-Galactosyltransferase 6). Affiliated tissues include bone.

Related Diseases for Spondyloepimetaphyseal Dysplasia Joint Laxity

Diseases in the Spondyloepimetaphyseal Dysplasia Joint Laxity family:

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

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

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 11.2
2 spondyloepimetaphyseal dysplasia with joint laxity, type 2 11.1
3 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.3

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia Joint Laxity

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia Joint Laxity

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia Joint Laxity

Genetic Tests for Spondyloepimetaphyseal Dysplasia Joint Laxity

Genetic tests related to Spondyloepimetaphyseal Dysplasia Joint Laxity:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia with Joint Laxity 29 B3GALT6

Anatomical Context for Spondyloepimetaphyseal Dysplasia Joint Laxity

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia Joint Laxity:

41
Bone

Publications for Spondyloepimetaphyseal Dysplasia Joint Laxity

Articles related to Spondyloepimetaphyseal Dysplasia Joint Laxity:

(show all 17)
# Title Authors Year
1
Detecting Genetics Modifiers of Spondyloepimetaphyseal Dysplasia with Joint Laxity (SEMDJL) in the Caucasian Afrikaner community. ( 30358852 )
2018
2
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. ( 27245527 )
2016
3
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. ( 24766538 )
2014
4
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. ( 25256152 )
2014
5
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. ( 23665482 )
2013
6
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. ( 22152677 )
2011
7
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. ( 19277648 )
2009
8
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. ( 18841068 )
2008
9
A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. ( 18256824 )
2008
10
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). ( 12784311 )
2003
11
Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients. ( 12567412 )
2003
12
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States. ( 10482874 )
1999
13
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. ( 8669438 )
1996
14
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates. ( 8897044 )
1996
15
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient. ( 8588592 )
1995
16
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). ( 8182720 )
1994
17
The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa. ( 2036742 )
1991

Variations for Spondyloepimetaphyseal Dysplasia Joint Laxity

Expression for Spondyloepimetaphyseal Dysplasia Joint Laxity

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia Joint Laxity.

Pathways for Spondyloepimetaphyseal Dysplasia Joint Laxity

GO Terms for Spondyloepimetaphyseal Dysplasia Joint Laxity

Sources for Spondyloepimetaphyseal Dysplasia Joint Laxity

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
Content
Loading form....