SEMDJL1
MCID: SPN253
MIFTS: 31

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

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin 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 59 75
Spondyloepimetaphyseal Dysplasia with Joint Laxity, 1, with or Without Fractures 75
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Beighton Type 59
Spondyloepimetaphyseal Dysplasia with Joint Laxity Beighton Type 75
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 59
Spondyloepimetaphyseal Dysplasia with Joint Laxity 59
Semdjl-Beighton Type 75
Semd-Jl 59
Semdjl 57

Characteristics:

Orphanet epidemiological data:

59
spondyloepimetaphyseal dysplasia with joint laxity
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,infantile,late childhood,young Adult;

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:



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 bone, eye and heart, and related phenotypes are abnormality of epiphysis morphology and high palate

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia joint laxity 11.5
2 spondyloepimetaphyseal dysplasia with joint laxity, type 2 11.1
3 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.6

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

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
short femoral necks
large, flared iliac wings
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

Neurologic Central Nervous System:
paraplegia
spinal cord compression
hypotonia

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

Skeletal Limbs:
radial bowing
radial head subluxation
metaphyseal flaring
radial head dislocation
wide metaphyses
more
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

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

59 32 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
2 high palate 59 32 very rare (1%) Frequent (79-30%) HP:0000218
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
5 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
6 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
7 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
8 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
9 cleft palate 59 32 very rare (1%) Frequent (79-30%) HP:0000175
10 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
11 exostoses 59 32 occasional (7.5%) Occasional (29-5%) HP:0100777
12 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
13 platyspondyly 59 32 very rare (1%) Very frequent (99-80%) HP:0000926
14 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
15 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
16 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
17 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
18 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
19 talipes equinovarus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001762
20 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
21 hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002827
22 ectopia lentis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001083
23 elbow dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003042
24 abnormal bone ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0011849
25 proptosis 59 32 very rare (1%) Very frequent (99-80%) HP:0000520
26 blue sclerae 59 32 very rare (1%) Very frequent (99-80%) HP:0000592
27 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
28 spondyloepimetaphyseal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002651
29 short iliac bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0100866
30 malar flattening 32 HP:0000272
31 short neck 32 HP:0000470
32 joint dislocation 59 Very frequent (99-80%)
33 genu valgum 32 very rare (1%) HP:0002857
34 muscular hypotonia 32 HP:0001252
35 skeletal dysplasia 59 Very frequent (99-80%)
36 pes planus 32 very rare (1%) HP:0001763
37 flexion contracture 32 HP:0001371
38 osteoporosis 32 HP:0000939
39 prominent forehead 32 very rare (1%) HP:0011220
40 micrognathia 32 HP:0000347
41 epiphyseal dysplasia 32 HP:0002656
42 ovoid vertebral bodies 32 HP:0003300
43 coxa valga 32 HP:0002673
44 short long bone 32 HP:0003026
45 pathologic fracture 32 HP:0002756
46 large iliac wings 32 very rare (1%) HP:0008818
47 metatarsus adductus 32 HP:0001840
48 flat face 32 very rare (1%) HP:0012368
49 atrial septal defect 32 very rare (1%) HP:0001631
50 bicuspid aortic valve 32 HP:0001647

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
Bone, Eye, Heart, 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:

# 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

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

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

75
# 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

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

6 (show all 26)
# 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 GRCh37 Chromosome 1, 1168104: 1168104
20 B3GALT6 NM_080605.3(B3GALT6): c.446delT (p.Phe149Serfs) deletion Uncertain significance GRCh38 Chromosome 1, 1232724: 1232724
21 B3GALT6 NM_080605.4(B3GALT6): c.388G> A (p.Glu130Lys) single nucleotide variant Uncertain significance rs777778007 GRCh37 Chromosome 1, 1168046: 1168046
22 B3GALT6 NM_080605.4(B3GALT6): c.388G> A (p.Glu130Lys) single nucleotide variant Uncertain significance rs777778007 GRCh38 Chromosome 1, 1232666: 1232666
23 B3GALT6 NM_080605.4(B3GALT6): c.236C> G (p.Thr79Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1167894: 1167894
24 B3GALT6 NM_080605.4(B3GALT6): c.236C> G (p.Thr79Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1232514: 1232514
25 B3GALT6 NM_080605.4(B3GALT6): c.655G> A (p.Val219Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1168313: 1168313
26 B3GALT6 NM_080605.4(B3GALT6): c.655G> A (p.Val219Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1232933: 1232933

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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