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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET


Potential gene panels for STN1 gene

OBFC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the STN1 gene.

More info about this panel
United States.

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