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
Portugal.
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 panel Portugal.
Osteopetrosis, autosomal recessive 2 (sequence analysis of TNFSF11 gene) Panel
Portugal.
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 panel Portugal.
Congenital disorder of glycosylation type Iw (sequence analysis of STT3A gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the STT3A gene.
More info about this panel Portugal.
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Mental retardation - different panels Panel
Germany.
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 panel Germany.
Congenital Disorders of Glycosylation (CDG) Panel
Germany.
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 panel Germany.
Congenital disorder of glycosylation, type Iw Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the STT3A gene.
More info about this panel Germany.
STT3A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the STT3A gene.
More info about this panel United States.
Congenital Disorders of Glycosylation Panel Panel
Finland.
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 panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
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