SEMDJL3
MCID: SPN434
MIFTS: 24

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 (SEMDJL3)

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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 28 5 38
Semdjl3 57 11 73
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 3 11 14
Spondyloepimetaphyseal Dysplasia with Joint Laxity, 3 73

Characteristics:


Inheritance:

Autosomal recessive 57

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 08-Dec-2022)

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 bone, and related phenotypes are obesity and scoliosis

Disease Ontology: 11 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: 73 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:

30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 30 Very rare (1%) HP:0001513
2 scoliosis 30 HP:0002650
3 short neck 30 HP:0000470
4 pes planus 30 HP:0001763
5 short stature 30 HP:0004322
6 joint laxity 30 HP:0001388
7 dolichocephaly 30 HP:0000268
8 platyspondyly 30 HP:0000926
9 hip dislocation 30 HP:0002827
10 patellar dislocation 30 HP:0002999
11 tapered finger 30 HP:0001182
12 hypoplasia of the ulna 30 HP:0003022
13 thin ribs 30 HP:0000883
14 dislocated radial head 30 HP:0003083
15 irregular vertebral endplates 30 HP:0003301
16 short femoral neck 30 HP:0100864
17 metaphyseal irregularity 30 HP:0003025
18 spondyloepimetaphyseal dysplasia 30 HP:0002651
19 knee dislocation 30 HP:0004976
20 carpal bone hypoplasia 30 HP:0001498
21 multiple joint dislocation 30 HP:0012095

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 28 EXOC6B

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

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

MalaCards : 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. 57 5
30284759 2018
2
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 57 5
26669664 2016
3
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3. 62
36150098 2022

Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

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

5
# 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 NM_015189.3(EXOC6B):c.401T>G (p.Leu134Ter) SNV Pathogenic
1335877 GRCh37: 2:72958301-72958301
GRCh38: 2:72731172-72731172
3 EXOC6B NG_050967.1:g.291668_510915del DEL Pathogenic
625846 GRCh37:
GRCh38:
4 EXOC6B NM_015189.1:c.2122+15447_2197-59588del DEL Pathogenic
1704251 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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