SEMDJL3
MCID: SPN434
MIFTS: 23

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 (SEMDJL3)

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 3

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3:

Name: Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 57 29 6
Semdjl3 57 12 72
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 3 12
Spondyloepimetaphyseal Dysplasia with Joint Laxity, 3 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
spondyloepimetaphyseal dysplasia with joint laxity, type 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

OMIM® : 57 Spondyloepimetaphyseal dysplasia with joint laxity-3 (SEMDJL3) is characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones (Girisha et al., 2016). For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640). (618395) (Updated 20-May-2021)

MalaCards based summary : Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3, is also known as semdjl3. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 is EXOC6B (Exocyst Complex Component 6B). Affiliated tissues include eye and bone, and related phenotypes are obesity and scoliosis

Disease Ontology : 12 A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has material basis in homozygous or compound heterozygous mutation in EXOC6B on chromosome 2p13.2.

UniProtKB/Swiss-Prot : 72 Spondyloepimetaphyseal dysplasia with joint laxity, 3: An autosomal recessive bone disease characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal and tarsal bones.

Related Diseases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Diseases in the Spondyloepimetaphyseal Dysplasia with Joint Laxity family:

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 obesity 31 very rare (1%) HP:0001513
2 scoliosis 31 HP:0002650
3 short neck 31 HP:0000470
4 pes planus 31 HP:0001763
5 short stature 31 HP:0004322
6 joint laxity 31 HP:0001388
7 dolichocephaly 31 HP:0000268
8 platyspondyly 31 HP:0000926
9 hip dislocation 31 HP:0002827
10 patellar dislocation 31 HP:0002999
11 tapered finger 31 HP:0001182
12 hypoplasia of the ulna 31 HP:0003022
13 thin ribs 31 HP:0000883
14 dislocated radial head 31 HP:0003083
15 irregular vertebral endplates 31 HP:0003301
16 short femoral neck 31 HP:0100864
17 metaphyseal irregularity 31 HP:0003025
18 spondyloepimetaphyseal dysplasia 31 HP:0002651
19 knee dislocation 31 HP:0004976
20 carpal bone hypoplasia 31 HP:0001498
21 multiple joint dislocation 31 HP:0012095

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
platyspondyly
irregular endplates
narrow interpedicular distance
vertebral body scalloping

Skeletal Feet:
pes planus
gracile metatarsals
small tarsal bones
poorly ossified tarsal bones

Skeletal:
joint laxity
spondyloepimetaphyseal dysplasia
multiple joint dislocations

Skeletal Limbs:
patellar dislocation
short femoral neck
metaphyseal irregularity
knee dislocation
radial head dislocation
more
Skeletal Hands:
tapering fingers
gracile metacarpals
prominent distal phalangeal tufts
small carpal bones
absent proximal carpal ossification
more
Head And Neck Head:
dolichocephaly, mild

Head And Neck Neck:
short neck

Growth Height:
short stature

Skeletal Pelvis:
hip dislocation

Chest Ribs Sternum Clavicles And Scapulae:
slender ribs

Growth Weight:
obesity (in some patients)

Skeletal Skull:
dolichocephaly, mild

Clinical features from OMIM®:

618395 (Updated 20-May-2021)

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Genetic Tests for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Genetic tests related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 29 EXOC6B

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3:

40
Eye, Bone

Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Articles related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3:

# Title Authors PMID Year
1
Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type. 6 57
30284759 2018
2
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 57 6
26669664 2016

Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXOC6B NM_015189.3(EXOC6B):c.906T>A (p.Tyr302Ter) SNV Pathogenic 625845 rs1294100541 GRCh37: 2:72786591-72786591
GRCh38: 2:72559462-72559462
2 EXOC6B NG_050967.1:g.291668_510915del Deletion Pathogenic 625846 GRCh37:
GRCh38:

Expression for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3.

Pathways for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

GO Terms for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Sources for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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