NNT gene related symptoms and diseases

All the information presented here about the NNT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NNT gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Failure to thrive Very Common - Between 80% and 100% cases
Hypoglycemia Very Common - Between 80% and 100% cases
Coma Very Common - Between 80% and 100% cases
Hyperpigmentation of the skin Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NNT gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Adrenal insufficiency
  • Shock
  • Precocious puberty
  • Hyponatremia
  • Apathy
  • Congenital hypothyroidism
  • Hyperkalemia
  • Dehydration

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NNT gene

Here you will find a list of rare diseases related to the NNT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL GLUCOCORTICOID DEFICIENCY


Alternate names

FAMILIAL GLUCOCORTICOID DEFICIENCY Is also known as fgd1, familial glucocorticoid deficiency 1, acth resistance, adrenal unresponsiveness to acth

Description

Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.

Most common symptoms of FAMILIAL GLUCOCORTICOID DEFICIENCY

  • Seizures
  • Failure to thrive
  • Feeding difficulties
  • Recurrent infections
  • Hypoglycemia


More info about FAMILIAL GLUCOCORTICOID DEFICIENCY

SOURCES: ORPHANET OMIM

GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4


Description

Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Most common symptoms of GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Cryptorchidism
  • Cardiomyopathy


More info about GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4

SOURCES: OMIM


Potential gene panels for NNT gene

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Non-compaction cardiomyopathy Panel

Spain.

By Health in Code Non-compaction cardiomyopathy that also includes the following genes: RYR2 TAZ TNNC1 TNNI3 TNNT2 TPM1 TTN PRDM16 ACTC1 CASQ2

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

More info about this panel

NNT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NNT gene.

More info about this panel

Glucocorticoid Deficiency Panel Panel

Finland.

By Blueprint Genetics Glucocorticoid Deficiency Panel that also includes the following genes: STAR MRAP MC2R NNT NR3C1 POMC

More info about this panel

CARDIOMYOPATHY WITH ISOLATED NONCOMPACTION OF LEFT VENTRICULAR: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CARDIOMYOPATHY WITH ISOLATED NONCOMPACTION OF LEFT VENTRICULAR: NGS PANEL that also includes the following genes: TAZ TNNT2 TPM1 PRDM16 ACTC1 LDB3 ACTN2 HCN4 MIB1 CSRP3

More info about this panel


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