STT3A gene related symptoms and diseases
All the information presented here about the STT3A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to STT3A gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Seizures | Very Common - Between 80% and 100% cases |
Scrotal hypoplasia | Very Common - Between 80% and 100% cases |
Micropenis | Very Common - Between 80% and 100% cases |
Thrombocytopenia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with STT3A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cerebellar atrophy
- Respiratory distress
- Optic atrophy
- Intrauterine growth retardation
- Feeding difficulties
- Cryptorchidism
- Failure to thrive
- Microcephaly
And 6 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to STT3A gene
Here you will find a list of rare diseases related to the STT3A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
STT3A-CDG
Alternate names
STT3A-CDG Is also known as congenital disorder of glycosylation type 1w, congenital disorder of glycosylation type iw, cdgix, cdg ix, cdg1w, cdg-iw, cdg syndrome type iw
Description
STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).
Most common symptoms of STT3A-CDG
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about STT3A-CDG
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W
Alternate names
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W Is also known as cdgiw, cdg iw
Most common symptoms of CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W
SOURCES: OMIM
Search interest in STT3A
Potential gene panels for STT3A gene
Congenital disorders of glycosylation (NGS panel for 39 genes) Panel
By CGC Genetics Congenital disorders of glycosylation (NGS panel for 39 genes) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 COG4 COG6 COG7
More info about this panelOsteopetrosis, autosomal recessive 2 (sequence analysis of TNFSF11 gene) Panel
By CGC Genetics Osteopetrosis, autosomal recessive 2 (sequence analysis of TNFSF11 gene) that also includes the following genes: SSR4 NGLY1 STT3B STT3A
More info about this panelCongenital disorder of glycosylation type Iw (sequence analysis of STT3A gene) Panel
By CGC Genetics
This panel specifically test the STT3A gene.
More info about this panelCongenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelCongenital Disorders of Glycosylation (CDG) Panel
By MGZ Medical Genetics Center Congenital Disorders of Glycosylation (CDG) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8
More info about this panelCongenital disorder of glycosylation, type Iw Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the STT3A gene.
More info about this panelSTT3A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the STT3A gene.
More info about this panelCongenital Disorders of Glycosylation Panel Panel
By Blueprint Genetics Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 ATP6V0A2 COG4
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
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