MCID: SPN127
MIFTS: 25

Spondyloepimetaphyseal Dysplasia Joint Laxity

Categories: Rare diseases, Genetic diseases, Bone diseases, Fetal 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
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 37
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), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Glycosaminoglycan biosynthesis - heparan sulfate / heparin. Affiliated tissues include bone and skin, and related phenotypes are cleft palate and high palate

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 11.1
2 spondyloepimetaphyseal dysplasia with joint laxity, type 2 10.9
3 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.2

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia Joint Laxity

Human phenotypes related to Spondyloepimetaphyseal Dysplasia Joint Laxity:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 frequent (33%) HP:0000175
2 high palate 32 frequent (33%) HP:0000218
3 long philtrum 32 hallmark (90%) HP:0000343
4 proptosis 32 hallmark (90%) HP:0000520
5 myopia 32 occasional (7.5%) HP:0000545
6 blue sclerae 32 hallmark (90%) HP:0000592
7 platyspondyly 32 hallmark (90%) HP:0000926
8 abnormality of the metaphysis 32 hallmark (90%) HP:0000944
9 hyperextensible skin 32 hallmark (90%) HP:0000974
10 ectopia lentis 32 occasional (7.5%) HP:0001083
11 intellectual disability 32 occasional (7.5%) HP:0001249
12 global developmental delay 32 occasional (7.5%) HP:0001263
13 abnormal cardiac septum morphology 32 occasional (7.5%) HP:0001671
14 talipes equinovarus 32 hallmark (90%) HP:0001762
15 short foot 32 hallmark (90%) HP:0001773
16 aganglionic megacolon 32 occasional (7.5%) HP:0002251
17 scoliosis 32 hallmark (90%) HP:0002650
18 spondyloepimetaphyseal dysplasia 32 hallmark (90%) HP:0002651
19 kyphosis 32 hallmark (90%) HP:0002808
20 hip dislocation 32 hallmark (90%) HP:0002827
21 micromelia 32 hallmark (90%) HP:0002983
22 elbow dislocation 32 hallmark (90%) HP:0003042
23 hyperlordosis 32 frequent (33%) HP:0003307
24 short palm 32 hallmark (90%) HP:0004279
25 short stature 32 hallmark (90%) HP:0004322
26 joint hyperflexibility 32 hallmark (90%) HP:0005692
27 abnormality of epiphysis morphology 32 hallmark (90%) HP:0005930
28 abnormal bone ossification 32 hallmark (90%) HP:0011849
29 exostoses 32 occasional (7.5%) HP:0100777
30 short iliac bones 32 hallmark (90%) HP:0100866

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, Skin

Publications for Spondyloepimetaphyseal Dysplasia Joint Laxity

Articles related to Spondyloepimetaphyseal Dysplasia Joint Laxity:

# Title Authors Year
1
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. ( 27245527 )
2016
2
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. ( 24766538 )
2014
3
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. ( 25256152 )
2014
4
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. ( 23665482 )
2013
5
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. ( 22152677 )
2011
6
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. ( 19277648 )
2009
7
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. ( 18841068 )
2008
8
A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. ( 18256824 )
2008
9
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). ( 12784311 )
2003

Variations for Spondyloepimetaphyseal Dysplasia Joint Laxity

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia Joint Laxity:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 B3GALT6 NM_080605.3(B3GALT6): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs786200938 GRCh37 Chromosome 1, 1167659: 1167659
2 B3GALT6 NM_080605.3(B3GALT6): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs786200938 GRCh38 Chromosome 1, 1232279: 1232279
3 B3GALT6 NM_080605.3(B3GALT6): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs397514717 GRCh37 Chromosome 1, 1168352: 1168352
4 B3GALT6 NM_080605.3(B3GALT6): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs397514717 GRCh38 Chromosome 1, 1232972: 1232972
5 B3GALT6 NM_080605.3(B3GALT6): c.466G> A (p.Asp156Asn) single nucleotide variant Pathogenic rs397514718 GRCh37 Chromosome 1, 1168124: 1168124
6 B3GALT6 NM_080605.3(B3GALT6): c.466G> A (p.Asp156Asn) single nucleotide variant Pathogenic rs397514718 GRCh38 Chromosome 1, 1232744: 1232744
7 B3GALT6 NM_080605.3(B3GALT6): c.899G> C (p.Cys300Ser) single nucleotide variant Pathogenic rs786200939 GRCh37 Chromosome 1, 1168557: 1168557
8 B3GALT6 NM_080605.3(B3GALT6): c.899G> C (p.Cys300Ser) single nucleotide variant Pathogenic rs786200939 GRCh38 Chromosome 1, 1233177: 1233177
9 B3GALT6 NM_080605.3(B3GALT6): c.193A> G (p.Ser65Gly) single nucleotide variant Pathogenic rs397514719 GRCh37 Chromosome 1, 1167851: 1167851
10 B3GALT6 NM_080605.3(B3GALT6): c.193A> G (p.Ser65Gly) single nucleotide variant Pathogenic rs397514719 GRCh38 Chromosome 1, 1232471: 1232471
11 B3GALT6 NM_080605.3(B3GALT6): c.200C> T (p.Pro67Leu) single nucleotide variant Pathogenic rs397514720 GRCh37 Chromosome 1, 1167858: 1167858
12 B3GALT6 NM_080605.3(B3GALT6): c.200C> T (p.Pro67Leu) single nucleotide variant Pathogenic rs397514720 GRCh38 Chromosome 1, 1232478: 1232478
13 B3GALT6 NM_080605.3(B3GALT6): c.138C> T (p.Ser46=) single nucleotide variant Benign/Likely benign rs190796582 GRCh37 Chromosome 1, 1167796: 1167796
14 B3GALT6 NM_080605.3(B3GALT6): c.138C> T (p.Ser46=) single nucleotide variant Benign/Likely benign rs190796582 GRCh38 Chromosome 1, 1232416: 1232416
15 B3GALT6 NM_080605.3(B3GALT6): c.22_36dup (p.Ala12_Ala13insTrpArgArgArgAla) duplication Benign/Likely benign GRCh37 Chromosome 1, 1167680: 1167694
16 B3GALT6 NM_080605.3(B3GALT6): c.22_36dup (p.Ala12_Ala13insTrpArgArgArgAla) duplication Benign/Likely benign GRCh38 Chromosome 1, 1232300: 1232314
17 B3GALT6 NM_080605.3(B3GALT6): c.556T> C (p.Phe186Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 1168214: 1168214
18 B3GALT6 NM_080605.3(B3GALT6): c.556T> C (p.Phe186Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 1232834: 1232834
19 B3GALT6 NM_080605.3(B3GALT6): c.446delT (p.Phe149Serfs) deletion Uncertain significance GRCh38 Chromosome 1, 1232724: 1232724
20 B3GALT6 NM_080605.3(B3GALT6): c.446delT (p.Phe149Serfs) deletion Uncertain significance GRCh37 Chromosome 1, 1168104: 1168104

Expression for Spondyloepimetaphyseal Dysplasia Joint Laxity

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

Pathways for Spondyloepimetaphyseal Dysplasia Joint Laxity

Pathways related to Spondyloepimetaphyseal Dysplasia Joint Laxity according to KEGG:

37
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532
2 Glycosaminoglycan biosynthesis - heparan sulfate / heparin hsa00534

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
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