CRH gene related symptoms and diseases

All the information presented here about the CRH 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 CRH gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Adrenocorticotropic hormone deficiency Uncommon - Between 30% and 50% cases
Blurred vision Uncommon - Between 30% and 50% cases
Hypopituitarism Uncommon - Between 30% and 50% cases
Growth hormone excess Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Increased circulating cortisol level
  • Oligomenorrhea
  • Prolactin excess
  • Pituitary adenoma
  • Excessive daytime somnolence
  • Pituitary hypothyroidism
  • Central diabetes insipidus
  • Hyponatremia

And 36 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CRH gene

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


AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY


Alternate names

AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY Is also known as adnfle

Description

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.

Most common symptoms of AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY

  • Intellectual disability
  • Seizures
  • Behavioral abnormality
  • Dystonia
  • Focal-onset seizure


More info about AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY

SOURCES: OMIM MESH ORPHANET

PITUITARY APOPLEXY


Description

The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Most common symptoms of PITUITARY APOPLEXY

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


More info about PITUITARY APOPLEXY

SOURCES: MESH ORPHANET


Potential gene panels for CRH gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel

CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

EpiFirst-Focal Panel

United States.

By Ambry Genetics EpiFirst-Focal that also includes the following genes: SCN1A SCN1B DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 CRH PRRT2 GRIN2A

More info about this panel

EpilepsyNext Panel

United States.

By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A

More info about this panel

EpiRapid reflex EpilepsyNext Panel

United States.

By Ambry Genetics EpiRapid reflex EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A

More info about this panel

CRH. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CRH gene.

More info about this panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

CRH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CRH gene.

More info about this panel

Epilepsy, nocturnal frontal lobe, type 4 Panel

Spain.

By Bioarray

This panel specifically test the CRH gene.

More info about this panel

EPILEPSY, NOCTURNAL FRONTAL LOBE (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL EPILEPSY, NOCTURNAL FRONTAL LOBE (AUTOSOMAL DOMINANT) that also includes the following genes: DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 CRH

More info about this panel

EPILEPSY, NOCTURNAL FRONTAL LOBE NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL EPILEPSY, NOCTURNAL FRONTAL LOBE NGS PANEL that also includes the following genes: DEPDC5 KCNT1 CHRNA2 CHRNA4 CHRNB2 CRH

More info about this panel


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