CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, our sibling pair highlights the intrafamilial variability, the natural clinical course of ALG3-CDG (CDG-Id) and the benefit of reassessing patients with undiagnosed and complex syndromes, particularly when they present with neurological deterioration.
|
23791010 |
2014 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
|
19862844 |
2009 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Among the many different subtypes of CDG, the defect of a mannosyltransferase encoded by the human ALG3 gene (chromosome 3q27) is known to cause CDG Id.
|
18679822 |
2008 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
We report on a patient with a congenital disorder of glycosylation type Id (CDG-Id) caused by a homozygous mutation in the ALG3 gene, which results from a de novo mutation in combination with a segmental maternal uniparental isodisomy (UPD).
|
16053906 |
2005 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins.
|
16006436 |
2005 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
Biomarker
|
disease |
BEFREE |
C-II also corrected impaired LLO biosynthesis in cells from a Dolichol (Dol)-P-Man deficient patient (CDG-Ie) and partially corrected LLO in cells from an ALG12 mannosyltransferase-deficient patient (CDG-Ig), whereas cells from an ALG3-deficient patient (CDG-Id) and from an MPDU1-deficient patient (CDG-If) were not corrected.
|
16079417 |
2005 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia.
|
15840742 |
2005 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).
|
15108280 |
2004 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.
|
10581255 |
1999 |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Arthrogryposis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital clubfoot
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Diarrhea
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Microcephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Muscle Hypertonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Muscle hypotonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Optic Atrophy
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Seizures
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Seizures
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Seizures
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|