GPD1 gene related symptoms and diseases
All the information presented here about the GPD1 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 GPD1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Failure to thrive | Very Common - Between 80% and 100% cases |
| Hepatomegaly | Very Common - Between 80% and 100% cases |
| Vomiting | Very Common - Between 80% and 100% cases |
| Splenomegaly | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GPD1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Elevated hepatic transaminase
- Abnormality of the liver
- Hepatic steatosis
- Abnormality of the cardiovascular system
- Hypertriglyceridemia
- Hepatic fibrosis
- Increased body weight
- Pancreatitis
Rare diseases associated to GPD1 gene
Here you will find a list of rare diseases related to the GPD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS
Alternate names
TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS Is also known as transient infantile hypertriglyceridemia and fatty liver
Description
Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.
Most common symptoms of TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS
- Short stature
- Failure to thrive
- Hepatomegaly
- Vomiting
- Splenomegaly
More info about TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS
Search interest in GPD1
Potential gene panels for GPD1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
GPD1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the GPD1 gene.
More info about this panel Germany.
Hypertriglyceridemia, transient infantile (sequence analysis of GPD1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GPD1 gene.
More info about this panel Portugal.
Hypertriglyceridemia, transient infantile Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GPD1 gene.
More info about this panel Germany.
Hypertriglyceridemia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Hypertriglyceridemia that also includes the following genes: LMF1 APOA5 GPIHBP1 GPD1 APOC2
More info about this panel Estonia.
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 Spain.
Dyslipidemias / Early atherosclerosis Panel
Spain.
By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1
More info about this panel Spain.
Primary familial hypertriglyceridemias Panel
Spain.
By Health in Code Primary familial hypertriglyceridemias that also includes the following genes: LMF1 PCDH15 TRIB1 APOA5 GPIHBP1 SLC25A40 PNPLA2 GPD1 APOC2 APOC3
More info about this panel Spain.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
GPD1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GPD1 gene.
More info about this panel United States.
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