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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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

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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 58
Semdjl1 58 60 76
Spondyloepimetaphyseal Dysplasia with Joint Laxity, 1, with or Without Fractures 76
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Beighton Type 60
Spondyloepimetaphyseal Dysplasia with Joint Laxity Beighton Type 76
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 60
Spondyloepimetaphyseal Dysplasia with Joint Laxity 60
Semdjl-Beighton Type 76
Semd-Jl 60
Semdjl 58

Characteristics:

Orphanet epidemiological data:

60
spondyloepimetaphyseal dysplasia with joint laxity
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,infantile,late childhood,young Adult;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Bone diseases Skin diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare eye diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


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

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OMIM : 58 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 skin, and related phenotypes are abnormality of epiphysis morphology and scoliosis

UniProtKB/Swiss-Prot : 76 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.

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

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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

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

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

60 33 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
2 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
3 kyphosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002808
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
6 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
7 platyspondyly 60 33 very rare (1%) Very frequent (99-80%) HP:0000926
8 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
9 short palm 60 33 hallmark (90%) Very frequent (99-80%) HP:0004279
10 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
11 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
12 talipes equinovarus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001762
13 hip dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002827
14 elbow dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0003042
15 abnormal bone ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0011849
16 proptosis 60 33 very rare (1%) Very frequent (99-80%) HP:0000520
17 blue sclerae 60 33 very rare (1%) Very frequent (99-80%) HP:0000592
18 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
19 spondyloepimetaphyseal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002651
20 short iliac bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0100866
21 high palate 60 33 very rare (1%) Frequent (79-30%) HP:0000218
22 hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0003307
23 cleft palate 60 33 very rare (1%) Frequent (79-30%) HP:0000175
24 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
25 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
26 exostoses 60 33 occasional (7.5%) Occasional (29-5%) HP:0100777
27 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
28 aganglionic megacolon 60 33 occasional (7.5%) Occasional (29-5%) HP:0002251
29 ectopia lentis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001083
30 carpal synostosis 33 occasional (7.5%) HP:0009702
31 abnormal cardiac septum morphology 33 occasional (7.5%) HP:0001671
32 genu valgum 33 very rare (1%) HP:0002857
33 pes planus 33 very rare (1%) HP:0001763
34 prominent forehead 33 very rare (1%) HP:0011220
35 large iliac wings 33 very rare (1%) HP:0008818
36 flat face 33 very rare (1%) HP:0012368
37 atrial septal defect 33 very rare (1%) HP:0001631
38 severe short stature 33 very rare (1%) HP:0003510
39 malar flattening 33 HP:0000272
40 short neck 33 HP:0000470
41 joint dislocation 60 Very frequent (99-80%)
42 muscular hypotonia 33 HP:0001252
43 skeletal dysplasia 60 Very frequent (99-80%)
44 flexion contracture 33 HP:0001371
45 osteoporosis 33 HP:0000939
46 micrognathia 33 HP:0000347
47 epiphyseal dysplasia 33 HP:0002656
48 ovoid vertebral bodies 33 HP:0003300
49 coxa valga 33 HP:0002673
50 short long bone 33 HP:0003026

Symptoms via clinical synopsis from OMIM:

58
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
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Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

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

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

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

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

42
Bone, Eye, Skin, Spinal Cord
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Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

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

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

76
# 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.138C> T (p.Ser46=) single nucleotide variant Benign/Likely benign rs190796582 GRCh37 Chromosome 1, 1167796: 1167796
2 B3GALT6 NM_080605.3(B3GALT6): c.138C> T (p.Ser46=) single nucleotide variant Benign/Likely benign rs190796582 GRCh38 Chromosome 1, 1232416: 1232416
3 B3GALT6 NM_080605.3(B3GALT6): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs786200938 GRCh37 Chromosome 1, 1167659: 1167659
4 B3GALT6 NM_080605.3(B3GALT6): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs786200938 GRCh38 Chromosome 1, 1232279: 1232279
5 B3GALT6 NM_080605.3(B3GALT6): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs397514717 GRCh37 Chromosome 1, 1168352: 1168352
6 B3GALT6 NM_080605.3(B3GALT6): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs397514717 GRCh38 Chromosome 1, 1232972: 1232972
7 B3GALT6 NM_080605.3(B3GALT6): c.466G> A (p.Asp156Asn) single nucleotide variant Pathogenic rs397514718 GRCh37 Chromosome 1, 1168124: 1168124
8 B3GALT6 NM_080605.3(B3GALT6): c.466G> A (p.Asp156Asn) single nucleotide variant Pathogenic rs397514718 GRCh38 Chromosome 1, 1232744: 1232744
9 B3GALT6 NM_080605.3(B3GALT6): c.899G> C (p.Cys300Ser) single nucleotide variant Pathogenic rs786200939 GRCh37 Chromosome 1, 1168557: 1168557
10 B3GALT6 NM_080605.3(B3GALT6): c.899G> C (p.Cys300Ser) single nucleotide variant Pathogenic rs786200939 GRCh38 Chromosome 1, 1233177: 1233177
11 B3GALT6 NM_080605.3(B3GALT6): c.193A> G (p.Ser65Gly) single nucleotide variant Pathogenic rs397514719 GRCh37 Chromosome 1, 1167851: 1167851
12 B3GALT6 NM_080605.3(B3GALT6): c.193A> G (p.Ser65Gly) single nucleotide variant Pathogenic rs397514719 GRCh38 Chromosome 1, 1232471: 1232471
13 B3GALT6 NM_080605.3(B3GALT6): c.200C> T (p.Pro67Leu) single nucleotide variant Pathogenic rs397514720 GRCh37 Chromosome 1, 1167858: 1167858
14 B3GALT6 NM_080605.3(B3GALT6): c.200C> T (p.Pro67Leu) single nucleotide variant Pathogenic rs397514720 GRCh38 Chromosome 1, 1232478: 1232478
15 B3GALT6 NM_080605.3(B3GALT6): c.22_36dup (p.Ala12_Ala13insTrpArgArgArgAla) duplication Benign/Likely benign rs1553151151 GRCh37 Chromosome 1, 1167680: 1167694
16 B3GALT6 NM_080605.3(B3GALT6): c.22_36dup (p.Ala12_Ala13insTrpArgArgArgAla) duplication Benign/Likely benign rs1553151151 GRCh38 Chromosome 1, 1232300: 1232314
17 B3GALT6 NM_080605.3(B3GALT6): c.556T> C (p.Phe186Leu) single nucleotide variant Pathogenic rs1553151294 GRCh37 Chromosome 1, 1168214: 1168214
18 B3GALT6 NM_080605.3(B3GALT6): c.556T> C (p.Phe186Leu) single nucleotide variant Pathogenic rs1553151294 GRCh38 Chromosome 1, 1232834: 1232834
19 B3GALT6 NM_080605.3(B3GALT6): c.446delT (p.Phe149Serfs) deletion Uncertain significance rs1553151257 GRCh37 Chromosome 1, 1168104: 1168104
20 B3GALT6 NM_080605.3(B3GALT6): c.446delT (p.Phe149Serfs) deletion Uncertain significance rs1553151257 GRCh38 Chromosome 1, 1232724: 1232724
21 B3GALT6 NM_080605.4(B3GALT6): c.388G> A (p.Glu130Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1232666: 1232666
22 B3GALT6 NM_080605.4(B3GALT6): c.388G> A (p.Glu130Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1168046: 1168046
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
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Expression for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

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

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

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

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