congenital disorder of glycosylation Ix

Summary
Synonym
  • congenital disorder of glycosylation 1x
Definition
A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
External Links
Disease Ontology
DOID:0080573
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
201595 STT3B STT3 oligosaccharyltransferase complex catalytic subunit B
Displaying 1 entry
Gene ID Gene Symbol Description Source
68292 Stt3b STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)
Displaying 1 entry
Gene ID Gene Symbol Description Source
363160 Stt3b STT3 oligosaccharyltransferase complex catalytic subunit B
Displaying 1 entry
Gene ID Gene Symbol Description Source
43005 Stt3B Catalytic subunit 3B of the oligosaccharyltransferase complex
Displaying 1 entry
Gene ID Gene Symbol Description Source
323918 stt3b STT3 oligosaccharyltransferase complex catalytic subunit B
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100380973 stt3b.S STT3B, catalytic subunit of the oligosaccharyltransferase complex S homeolog Xenopus laevis (African clawed frog)
108718938 stt3b.L STT3B, catalytic subunit of the oligosaccharyltransferase complex L 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 21 in total
HPO ID HPO Term
HP:0001250 Seizure
HP:0011968 Feeding difficulties
HP:0000078 Abnormality of the genital system
HP:0001508 Failure to thrive
HP:0000046 Small scrotum
HP:0001272 Cerebellar atrophy
HP:0001873 Thrombocytopenia
HP:0000648 Optic atrophy
HP:0000028 Cryptorchidism
HP:0001290 Generalized hypotonia
Displaying 1 entry
Gene ID Gene Symbol Description
201595 STT3B STT3 oligosaccharyltransferase complex catalytic subunit B

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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