DHFR gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to DHFR gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Delayed myelination Very Common - Between 80% and 100% cases
Eyelid myoclonus Very Common - Between 80% and 100% cases
Methylmalonic aciduria Very Common - Between 80% and 100% cases
Megaloblastic anemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DHFR gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Central hypotonia
  • Poor head control
  • Absence seizures
  • Postnatal microcephaly
  • Cerebellar vermis hypoplasia
  • Pancytopenia
  • Generalized-onset seizure
  • Neuronal loss in central nervous system

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DHFR gene

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


CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE


Alternate names

CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE Is also known as dihydrofolate reductase deficiency, dhfr deficiency

Description

Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.

Most common symptoms of CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


More info about CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE

SOURCES: ORPHANET OMIM MESH


Potential gene panels for DHFR gene

Megaloblastic anemia due to dihydrofolate reductase deficiency Panel

Czech Republic.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague

This panel specifically test the DHFR gene.

More info about this panel

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

Dihydrofolate reductase deficiency (DHFR) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the DHFR gene.

More info about this panel

Tetrahydrofolate Metabolism Deficiency NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Tetrahydrofolate Metabolism Deficiency NGS Panel that also includes the following genes: SHMT1 SLC19A1 MTHFD1L DHFR FOLR1 FPGS MTHFD1 MTHFS PTS

More info about this panel

DHFR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DHFR gene.

More info about this panel

Idiopathic Generalized Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Idiopathic Generalized Epilepsy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC9A6 SMC1A KDM5C CDKL5

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

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Metabolic Epilepsy Panel Panel

Finland.

By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

Anemia Panel Panel

Finland.

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the DHFR gene.

More info about this panel

MEGALOBLASTIC ANEMIA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MEGALOBLASTIC ANEMIA: NGS PANEL that also includes the following genes: SLC19A2 AMN CUBN DHFR CBLIF

More info about this panel

Megaloblastic Anemia and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Megaloblastic Anemia and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SLC19A2 AMN CUBN DHFR CBLIF

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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