SEMDJL3
MCID: SPN434
MIFTS: 11

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 (SEMDJL3)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare 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 58 6
Semdjl3 58

Classifications:



External Ids:

OMIM 58 618395

Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

OMIM : 58 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)

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.

Related Diseases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Diseases in the Spondyloepimetaphyseal Dysplasia 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

Clinical features from OMIM:

618395

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

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

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

42
Bone

Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

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

# Title Authors Year
1
Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type. ( 30284759 )
2018
2
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. ( 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 Variation Type Significance SNP ID Assembly Location
1 EXOC6B NM_001321729.1(EXOC6B): c.906T> A (p.Tyr302Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 72786591: 72786591
2 EXOC6B NM_001321729.1(EXOC6B): c.906T> A (p.Tyr302Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 72559462: 72559462
3 EXOC6B NG_050967.1: g.291668_510915del deletion Pathogenic

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

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