Details of Disease

General Information of Disease (ID: DISDTAJK)

Disease Name Spondylometaphyseal dysplasia
Synonyms spondylometaphyseal dysplasia
Definition Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DISDTAJK: Spondylometaphyseal dysplasia
Disease Identifiers
MONDO ID
MONDO_0016763
UMLS CUI
C4759767
MedGen ID
1674850
HPO ID
HP:0002657
Orphanet ID
254
SNOMED CT ID
784006008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLCB3 OT0OMDEM Limited Autosomal recessive [1]
COL2A1 OT5E59C8 Definitive Autosomal dominant [2]
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References

1 Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. J Med Genet. 2018 Feb;55(2):122-130. doi: 10.1136/jmedgenet-2017-104827. Epub 2017 Nov 9.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.