spondyloepiphyseal dysplasia Stanescu type

Summary
Synonym
  • SED Stanescu type
  • SEDSTN
Definition
A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.
Super Class
autosomal dominant disease spondyloepiphyseal dysplasia
Disease Ontology
DOID:0112281
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1280 COL2A1 collagen type II alpha 1 chain
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P02458 Collagen alpha-1(II) chain

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025