autosomal recessive intellectual developmental disorder 46

Summary
Definition
An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33.
Super Class
autosomal recessive intellectual developmental disorder
External Links
Disease Ontology
DOID:0081210
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3340 NDST1 N-deacetylase and N-sulfotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
15531 Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
29633 Ndst1 N-deacetylase and N-sulfotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
38736 sfl sulfateless
Displaying all 2 entries
Gene ID Gene Symbol Description Source
570459 ndst1b N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1b
100329944 ndst1a N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1a
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
443855 ndst1.S N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 S homeolog Xenopus laevis (African clawed frog)
496577 ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 Xenopus tropicalis (tropical clawed frog)
108710821 ndst1.L N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
177675 hst-1 Heparan sulfate N-sulfotransferase 1
The Human Phenotype Ontology
Displaying entries 21 - 28 of 28 in total
HPO ID HPO Term
HP:0001510 Growth delay
HP:0011463 Childhood onset
HP:0001252 Hypotonia
HP:0000664 Synophrys
HP:0002465 Poor speech
HP:0000303 Mandibular prognathia
HP:0001763 Pes planus
HP:0000750 Delayed speech and language development
Displaying 1 entry
Gene ID Gene Symbol Description
3340 NDST1 N-deacetylase and N-sulfotransferase 1

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Last updated: August 19, 2024