spondyloepimetaphyseal dysplasia, Genevieve-type

Summary
Definition
A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22.
Super Class
autosomal recessive disease spondyloepimetaphyseal dysplasia
Disease Ontology
DOID:0080576
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54187 NANS N-acetylneuraminate synthase
Displaying 1 entry
Gene ID Gene Symbol Description Source
94181 Nans N-acetylneuraminic acid synthase (sialic acid synthase)
Displaying 1 entry
Gene ID Gene Symbol Description Source
41528 NANS N-acetylneuraminic acid synthase
The Human Phenotype Ontology
Displaying entries 31 - 40 of 46 in total
HPO ID HPO Term
HP:0003025 Metaphyseal irregularity
HP:0003085 Long fibula
HP:0003180 Flat acetabular roof
HP:0003301 Irregular vertebral endplates
HP:0004233 Advanced ossification of carpal bones
HP:0004322 Short stature
HP:0005121 Posterior scalloping of vertebral bodies
HP:0005280 Depressed nasal bridge
HP:0010582 Irregular epiphyses
HP:0010585 Small epiphyses
Displaying 1 entry
Gene ID Gene Symbol Description
54187 NANS N-acetylneuraminate synthase

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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: December 9, 2024