STN1 gene related symptoms and diseases
All the information presented here about the STN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to STN1 gene
Symptoms // Phenotype | % Cases |
---|---|
Hypertension | Very Common - Between 80% and 100% cases |
Gastrointestinal hemorrhage | Common - Between 50% and 80% cases |
Ataxia | Common - Between 50% and 80% cases |
Spasticity | Common - Between 50% and 80% cases |
Intrauterine growth retardation | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with STN1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Dystonia
- Osteopenia
- Cirrhosis
- Cerebral calcification
- Telangiectasia
- Leukodystrophy
- Portal hypertension
- Abnormality of the vasculature
And 83 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to STN1 gene
Here you will find a list of rare diseases related to the STN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
IDIOPATHIC PULMONARY FIBROSIS
Alternate names
IDIOPATHIC PULMONARY FIBROSIS Is also known as cfa, uip, usual interstitial pneumonia, interstitial pneumonitis, usual, idiopathic pulmonary fibrosis, familial, cryptogenic fibrosing alveolitis, fibrosing alveolitis, cryptogenic, fibrocystic pulmonary dysplasia
Description
Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.
Most common symptoms of IDIOPATHIC PULMONARY FIBROSIS
- Neoplasm
- Hypertension
- Fever
- Respiratory insufficiency
- Respiratory distress
More info about IDIOPATHIC PULMONARY FIBROSIS
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2
Description
CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by Simon et al., 2016).For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (OMIM ).
Most common symptoms of CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2
- Ataxia
- Growth delay
- Spasticity
- Hypertension
- Intrauterine growth retardation
More info about CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2
SOURCES: OMIM
COATS PLUS SYNDROME
Alternate names
COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts, coats plus syndrome, crmcc
Description
Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.
Most common symptoms of COATS PLUS SYNDROME
- Seizures
- Short stature
- Scoliosis
- Ataxia
- Growth delay
More info about COATS PLUS SYNDROME
Search interest in STN1
Potential gene panels for STN1 gene
OBFC1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the STN1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like GABRA5 PIK3CA FARS2 AK1 CC2D2A MYO15A GBA