SEMDJL1
MCID: SPN253
MIFTS: 30

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures (SEMDJL1)

Categories: Bone diseases, Genetic diseases, Muscle diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

Name: Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 57
Semdjl1 57 74
Spondyloepimetaphyseal Dysplasia with Joint Laxity, 1, with or Without Fractures 74
Spondyloepimetaphyseal Dysplasia with Joint Laxity Beighton Type 74
Semdjl-Beighton Type 74
Semdjl 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
common in afrikaan population, south africa
death in first-second decade of life secondary to cardio-respiratory compromise


HPO:

32
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D010009
MedGen 42 C0432243

Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

OMIM : 57 Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by Smith et al., 1999). Patients with a similar phenotype and fractures have been described (Malfait et al., 2013). (271640)

MalaCards based summary : Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures, also known as semdjl1, is related to spondyloepimetaphyseal dysplasia joint laxity and spondyloepimetaphyseal dysplasia with joint laxity, type 2. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures is B3GALT6 (Beta-1,3-Galactosyltransferase 6). Affiliated tissues include eye, heart and bone, and related phenotypes are carpal synostosis and genu valgum

UniProtKB/Swiss-Prot : 74 Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures: A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed.

Related Diseases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia joint laxity 11.3
2 spondyloepimetaphyseal dysplasia with joint laxity, type 2 11.2
3 spondyloepimetaphyseal dysplasia with joint laxity, type 3 11.2
4 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.6
5 renal hypodysplasia/aplasia 1 10.5
6 pierre robin syndrome 10.5
7 alacrima, achalasia, and mental retardation syndrome 10.5
8 autosomal recessive disease 10.5
9 ehlers-danlos syndrome 10.5
10 isolated pierre robin sequence 10.5
11 scoliosis 10.3
12 dwarfism 10.3
13 brachydactyly 10.1
14 hypermobile ehlers-danlos syndrome 10.1
15 pectus carinatum 10.1

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:



Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

32 (show top 50) (show all 67)
# Description HPO Frequency HPO Source Accession
1 carpal synostosis 32 occasional (7.5%) HP:0009702
2 genu valgum 32 very rare (1%) HP:0002857
3 high palate 32 very rare (1%) HP:0000218
4 pes planus 32 very rare (1%) HP:0001763
5 prominent forehead 32 very rare (1%) HP:0011220
6 cleft palate 32 very rare (1%) HP:0000175
7 platyspondyly 32 very rare (1%) HP:0000926
8 large iliac wings 32 very rare (1%) HP:0008818
9 flat face 32 very rare (1%) HP:0012368
10 atrial septal defect 32 very rare (1%) HP:0001631
11 proptosis 32 very rare (1%) HP:0000520
12 severe short stature 32 very rare (1%) HP:0003510
13 blue sclerae 32 very rare (1%) HP:0000592
14 malar flattening 32 HP:0000272
15 short neck 32 HP:0000470
16 muscular hypotonia 32 HP:0001252
17 flexion contracture 32 HP:0001371
18 osteoporosis 32 HP:0000939
19 long philtrum 32 HP:0000343
20 micrognathia 32 HP:0000347
21 generalized hypotonia 32 HP:0001290
22 epiphyseal dysplasia 32 HP:0002656
23 ovoid vertebral bodies 32 HP:0003300
24 coxa valga 32 HP:0002673
25 short long bone 32 HP:0003026
26 pathologic fracture 32 HP:0002756
27 metatarsus adductus 32 HP:0001840
28 myopia 32 HP:0000545
29 bicuspid aortic valve 32 HP:0001647
30 slender long bone 32 HP:0003100
31 joint laxity 32 HP:0001388
32 talipes equinovarus 32 HP:0001762
33 kyphoscoliosis 32 HP:0002751
34 hip dislocation 32 HP:0002827
35 mitral regurgitation 32 HP:0001653
36 ectopia lentis 32 HP:0001083
37 ventricular septal defect 32 HP:0001629
38 sparse scalp hair 32 HP:0002209
39 hallux valgus 32 HP:0001822
40 midface retrusion 32 HP:0011800
41 decreased body weight 32 HP:0004325
42 hyperextensible skin 32 HP:0000974
43 short metacarpal 32 HP:0010049
44 cupped ribs 32 HP:0000887
45 paraplegia 32 HP:0010550
46 11 pairs of ribs 32 HP:0000878
47 radial bowing 32 HP:0002986
48 dislocated radial head 32 HP:0003083
49 flared iliac wings 32 HP:0002869
50 short nail 32 HP:0001799

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
progressive kyphoscoliosis
platyspondyly (childhood)
ovoid vertebrae (infancy)
irregular endplates (childhood)
more
Head And Neck Face:
prominent forehead
micrognathia
flat midface
oval face

Skeletal Pelvis:
coxa valga
hip dislocation
hip subluxation
hypoplastic iliac body
short femoral necks
more
Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
ventricular septal defect
mitral insufficiency

Chest Ribs Sternum Clavicles And Scapulae:
cupped ribs
11 pairs of ribs
anterior flaring of ribs

Skeletal Limbs:
radial bowing
radial head subluxation
metaphyseal flaring
radial head dislocation
wide metaphyses
more
Skeletal Hands:
short metacarpals
advanced carpal ossification
hypermobile digits
spatulate terminal phalanges (especially thumbs)
hand contracture (rare)
more
Growth Height:
dwarfism

Skin Nails Hair Nails:
foreshortened nails

Skeletal:
joint dislocation
osteoporosis
joint laxity
spondyloepimetaphyseal dysplasia
joint contractures
more
Skeletal Feet:
pes planus
metatarsus adductus
talipes equinovarus
hallux valgus

Head And Neck Mouth:
long philtrum
long upper lip
cleft palate (31% of patients)
high-arched palate (12% of patients)

Head And Neck Eyes:
myopia
proptosis
prominent eyes
lens dislocation
blue sclera
more
Skin Nails Hair Hair:
sparse scalp hair

Neurologic Central Nervous System:
paraplegia
spinal cord compression
hypotonia

Skin Nails Hair Skin:
soft, doughy skin
skin fragility
atrophic scarring
mild skin hyperextensibility
palmar wrinkling

Growth Weight:
low weight

Chest External Features:
thoracic asymmetry

Clinical features from OMIM:

271640

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures

Genetic Tests for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

41
Eye, Heart, Bone, Skin, Spinal Cord

Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Articles related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

(show all 17)
# Title Authors PMID Year
1
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. 8 71
23664117 2013
2
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. 8
23664118 2013
3
Nosology and classification of genetic skeletal disorders: 2006 revision. 8
17120245 2007
4
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). 8
12784311 2003
5
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States. 8
10482874 1999
6
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. 8
9678701 1998
7
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. 8
8669438 1996
8
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient. 8
8588592 1995
9
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). 8
8182720 1994
10
The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa. 8
2036742 1991
11
A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance? 8
3681904 1987
12
The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. 8
6499247 1984
13
Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases. 8
6435203 1984
14
Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder. 8
6635864 1983
15
Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. 8
7209574 1980
16
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. 38
29230159 2017
17
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations. 38
28649518 2015

Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

6 (show all 17)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 B3GALT6 NM_080605.4(B3GALT6): c.556T> C (p.Phe186Leu) single nucleotide variant Pathogenic rs1553151294 1:1168214-1168214 1:1232834-1232834
2 B3GALT6 NM_080605.4(B3GALT6): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs786200938 1:1167659-1167659 1:1232279-1232279
3 B3GALT6 NM_080605.4(B3GALT6): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs397514717 1:1168352-1168352 1:1232972-1232972
4 B3GALT6 NM_080605.4(B3GALT6): c.466G> A (p.Asp156Asn) single nucleotide variant Pathogenic rs397514718 1:1168124-1168124 1:1232744-1232744
5 B3GALT6 NM_080605.4(B3GALT6): c.899G> C (p.Cys300Ser) single nucleotide variant Pathogenic rs786200939 1:1168557-1168557 1:1233177-1233177
6 B3GALT6 NM_080605.4(B3GALT6): c.193A> G (p.Ser65Gly) single nucleotide variant Pathogenic rs397514719 1:1167851-1167851 1:1232471-1232471
7 B3GALT6 NM_080605.4(B3GALT6): c.200C> T (p.Pro67Leu) single nucleotide variant Pathogenic rs397514720 1:1167858-1167858 1:1232478-1232478
8 B3GALT6 NM_080605.4(B3GALT6): c.446del (p.Phe149fs) deletion Uncertain significance rs1553151257 1:1168104-1168104 1:1232724-1232724
9 B3GALT6 NM_080605.4(B3GALT6): c.17G> A (p.Arg6Gln) single nucleotide variant Uncertain significance rs1131691530 1:1167675-1167675 1:1232295-1232295
10 B3GALT6 NM_080605.4(B3GALT6): c.388G> A (p.Glu130Lys) single nucleotide variant Uncertain significance 1:1168046-1168046 1:1232666-1232666
11 B3GALT6 NM_080605.4(B3GALT6): c.236C> G (p.Thr79Arg) single nucleotide variant Uncertain significance 1:1167894-1167894 1:1232514-1232514
12 B3GALT6 NM_080605.4(B3GALT6): c.655G> A (p.Val219Met) single nucleotide variant Uncertain significance 1:1168313-1168313 1:1232933-1232933
13 B3GALT6 NC_000001.10: g.(?_1146915)_(1168668_?)dup duplication Uncertain significance 1:1146915-1168668 1:1211535-1233288
14 B3GALT6 NM_080605.4(B3GALT6): c.341C> A (p.Ala114Glu) single nucleotide variant Uncertain significance 1:1167999-1167999 1:1232619-1232619
15 B3GALT6 NM_080605.4(B3GALT6): c.35C> G (p.Ala12Gly) single nucleotide variant Uncertain significance rs900539403 1:1167693-1167693 1:1232313-1232313
16 B3GALT6 NM_080605.4(B3GALT6): c.22_36dup (p.Trp8_Ala12dup) duplication Benign/Likely benign rs1553151151 1:1167680-1167694 1:1232300-1232314
17 B3GALT6 NM_080605.4(B3GALT6): c.138C> T (p.Ser46=) single nucleotide variant Benign/Likely benign rs190796582 1:1167796-1167796 1:1232416-1232416

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

74
# Symbol AA change Variation ID SNP ID
1 B3GALT6 p.Ser65Gly VAR_070133 rs397514719
2 B3GALT6 p.Pro67Leu VAR_070134 rs397514720
3 B3GALT6 p.Asp156Asn VAR_070136 rs397514718
4 B3GALT6 p.Asp207His VAR_070137 rs397514723
5 B3GALT6 p.Gly217Ser VAR_070138 rs397514724
6 B3GALT6 p.Arg232Cys VAR_070139 rs397514717
7 B3GALT6 p.Cys300Ser VAR_070140 rs786200939

Expression for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures.

Pathways for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

GO Terms for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Sources for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

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