EGF gene related symptoms and diseases
All the information presented here about the EGF gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EGF gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Common - Between 50% and 80% cases |
| Intellectual disability, moderate | Common - Between 50% and 80% cases |
| Hypomagnesemia | Common - Between 50% and 80% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
| Microcephaly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with EGF gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Ventriculomegaly
- Headache
- Obesity
- Autistic behavior
- Poor speech
- Vertigo
- Generalized muscle weakness
- Hyperactive deep tendon reflexes
And 3 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EGF gene
Here you will find a list of rare diseases related to the EGF. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOMAGNESEMIA 4, RENAL; HOMG4
Alternate names
HYPOMAGNESEMIA 4, RENAL; HOMG4 Is also known as hypomagnesemia, renal, normocalciuric
Most common symptoms of HYPOMAGNESEMIA 4, RENAL; HOMG4
- Seizures
- Global developmental delay
- Intellectual disability, moderate
- Hypomagnesemia
More info about HYPOMAGNESEMIA 4, RENAL; HOMG4
ADULT HEPATOCELLULAR CARCINOMA
Alternate names
ADULT HEPATOCELLULAR CARCINOMA Is also known as adult hcc
Description
Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.
More info about ADULT HEPATOCELLULAR CARCINOMA
SOURCES: ORPHANET
FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA
Description
Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.
Most common symptoms of FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA
- Seizures
- Microcephaly
- Ventriculomegaly
- Headache
- Obesity
More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA
SOURCES: ORPHANET
Search interest in EGF
Potential gene panels for EGF gene
Hypomagnesemia type 4 (sequence analysis of EGF gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the EGF gene.
More info about this panel Portugal.
Hypomagnesemia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panel Portugal.
Hypomagnesemia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Hypomagnesemia (NGS panel for 17 genes) that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLCNKB CLDN16 CLDN19
More info about this panel Portugal.
Hypomagnesemia 4, renal Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the EGF gene.
More info about this panel Germany.
Hypomagnesemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypomagnesemia Sequencing Panel with CNV Detection that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR BSND SARS2 TRPM6 CLDN16 CLDN19 FAM111A
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Single gene testing EGF Panel
Germany.
By CeGaT GmbH
This panel specifically test the EGF gene.
More info about this panel Germany.
EGF Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EGF gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Hypomagnesemia Panel Panel
Finland.
By Blueprint Genetics Hypomagnesemia Panel that also includes the following genes: CNNM2 CNNM4 SLC12A3 HNF1B CASR BSND NIPA2 SARS2 TRPM6 CLCNKB
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA that also includes the following genes: CNNM2 EGF
More info about this panel Spain.
HYPOMAGNESEMIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPOMAGNESEMIA NGS PANEL that also includes the following genes: CNNM2 SLC12A3 HNF1B TRPM6 CLDN16 CLDN19 EGF FXYD2 KCNA1
More info about this panel Spain.
Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Hypomagnesemia , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: CNNM2 SLC12A3 HNF1B CASR SARS2 TRPM6 CLCNKB CLDN16 CLDN19 EGF
More info about this panel Spain.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
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 United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DLG3 ITPR1 BCL6 ALDOB APC2 MIR3681HG IL17RC