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
External Links
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
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9NR45 Sialic acid synthase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 46 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000179 Thick lower lip vermilion
HP:0000248 Brachycephaly
HP:0000252 Microcephaly
HP:0000280 Coarse facial features
HP:0000286 Epicanthus
HP:0000294 Low anterior hairline
HP:0000414 Bulbous nose
HP:0000445 Wide nose
HP:0000470 Short neck
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: August 19, 2024