Details of Disease

General Information of Disease (ID: DIS7HG98)

Disease Name Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
Synonyms SEMDAD; spondyloepimetaphyseal dysplasia with abnormal dentition
Definition
A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.
Disease Hierarchy
DISO4L5A: Spondyloepimetaphyseal dysplasia
DIS7HG98: Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
Disease Identifiers
MONDO ID
MONDO_0011124
MESH ID
C566644
UMLS CUI
C1866507
OMIM ID
601668
MedGen ID
356550
Orphanet ID
168451

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC39A13 DTOTKBS Definitive Autosomal recessive [1]
SLC39A13 DTOTKBS Definitive Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC39A13 OTF36U59 Definitive Autosomal recessive [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
2 The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PLoS One. 2008;3(11):e3642. doi: 10.1371/journal.pone.0003642. Epub 2008 Nov 5.