congenital disorder of glycosylation Iw

Summary
Synonym
  • congenital disorder of glycosylation 1w
Definition
A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
External Links
Disease Ontology
DOID:0080572
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
3703 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A
201595 STT3B STT3 oligosaccharyltransferase complex catalytic subunit B
Displaying all 2 entries
Gene ID Gene Symbol Description Source
16430 Stt3a STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)
68292 Stt3b STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
363160 Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B
500972 Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A
Displaying all 2 entries
Gene ID Gene Symbol Description Source
33082 Stt3A Catalytic subunit 3A of the oligosaccharyltransferase complex
43005 Stt3B Catalytic subunit 3B of the oligosaccharyltransferase complex
Displaying all 2 entries
Gene ID Gene Symbol Description Source
266797 stt3a STT3 oligosaccharyltransferase complex catalytic subunit A
323918 stt3b STT3 oligosaccharyltransferase complex catalytic subunit B
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
399234 stt3a.L STT3A, subunit of the oligosaccharyltransferase complex (catalytic) L homeolog Xenopus laevis (African clawed frog)
407861 stt3a STT3A, subunit of the oligosaccharyltransferase complex (catalytic) Xenopus tropicalis (tropical clawed frog)
779022 stt3a.S STT3A, subunit of the oligosaccharyltransferase complex (catalytic) S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
175886 stt-3 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit stt-3
Displaying 1 entry
Gene ID Gene Symbol Description Source
852862 STT3 dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0001272 Cerebellar atrophy
HP:0000252 Microcephaly
HP:0011968 Feeding difficulties
HP:0000046 Small scrotum
HP:0001508 Failure to thrive
HP:0001250 Seizure
HP:0000028 Cryptorchidism
HP:0001263 Global developmental delay
HP:0007772 Impaired smooth pursuit
HP:0000054 Micropenis
Displaying 1 entry
Gene ID Gene Symbol Description
3703 STT3A STT3 oligosaccharyltransferase complex catalytic subunit A

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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