GIF gene related symptoms and diseases
All the information presented here about the GIF gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC.
Top 5 symptoms associated to GIF gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Autosomal recessive inheritance | Very Common - Between 80% and 100% cases |
| Leukopenia | Very Common - Between 80% and 100% cases |
| Absence of intrinsic factor | Very Common - Between 80% and 100% cases |
| Malabsorption of Vitamin B12 | Very Common - Between 80% and 100% cases |
| Abnormality of the stomach | Very Common - Between 80% and 100% cases |
Other less frequent symptoms
Patients with GIF gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
Increased mean corpuscular volumeNot very common - Between 30% and 50% cases
Megaloblastic anemiaCommonly - More than 50% cases
Macrocytic anemiaNot very common - Between 30% and 50% cases
Abnormality of the immune systemCommonly - More than 50% cases
PancytopeniaNot very common - Between 30% and 50% cases
Intellectual disabilityCommonly - More than 50% cases
Sensory impairmentNot very common - Between 30% and 50% cases
ParesthesiaAnd 7 more phenotypes.
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Rare diseases associated to GIF gene
Here you will find a list of rare diseases related to the GIF. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
INTRINSIC FACTOR DEFICIENCY; IFD
Alternate names
INTRINSIC FACTOR DEFICIENCY; IFD Is also known as pernicious anemia, congenital, due to defect of intrinsic factor;congenital pernicious anemia; gastric intrinsic factor deficiency; hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency; ifd; intrinsic factor deficiency
Description
Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (OMIM ).See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (OMIM ).
Most common symptoms of INTRINSIC FACTOR DEFICIENCY; IFD
- Autosomal recessive inheritance
- Intellectual disability
- Anemia
- Abnormality of metabolism/homeostasis
- Jaundice
More info about INTRINSIC FACTOR DEFICIENCY; IFD
Potential gene panels for GIF gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories in United States. MitoMet®Plus aCGH Analysis that also includes the following genes: BRCA1 MTHFR UBE3A VHL MUTYH TP53 MCCC1 MCCC2 AARS2 ABCB11
More info about this panelMethylmalonic Acidemia Sequencing NextGen Panel Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. Methylmalonic Acidemia Sequencing NextGen Panel that also includes the following genes: MTHFR MTR ACSF3 SUCLA2 TCN2 GIF MCEE MMAB MMAA IVD
More info about this panelCobalamin Metabolism Disorder Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Cobalamin Metabolism Disorder that also includes the following genes: MMACHC MTR MTRR ACSF3 MMADHC LMBRD1 TCN2 GIF MCEE MMAB
More info about this panelCobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes) Panel
By ARUP Laboratories, Molecular Genetics and Genomics in United States. Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes) that also includes the following genes: MTHFR MMACHC AMN MTR MTRR ACSF3 SUCLA2 PCCB PCCA MMADHC
More info about this panelIntrinsic factor deficiency (sequence analysis of GIF gene) Panel
By CGC Genetics in Portugal.
This panel specifically test the GIF gene.
More info about this panelDisorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics in United States. Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection that also includes the following genes: MTHFR MMACHC AMN MTR MTRR ACSF3 ALDH6A1 SUCLA2 PCCB PCCA
More info about this panelGastric intrinsic factor deficiency (GIF) Panel
By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.
This panel specifically test the GIF gene.
More info about this panelMegaloblastic anemia panel Panel
By Centogene AG - the Rare Disease Company in Germany. Megaloblastic anemia panel that also includes the following genes: AMN CUBN GIF
More info about this panelIntrinsic factor deficiency Panel
By Centogene AG - the Rare Disease Company in Germany.
This panel specifically test the GIF gene.
More info about this panelErythrocytes, Anemia Panel Panel
By CeGaT GmbH in Germany. Erythrocytes, Anemia Panel that also includes the following genes: HFE HBB AMN COX4I2 RPL35A CUBN GIF RPS19 HBA1 G6PD
More info about this panelMethylmalonic Aciduria and Homocystinuria Panel
By Asper Biogene Asper Biogene LLC in Estonia. Methylmalonic Aciduria and Homocystinuria that also includes the following genes: MTHFR MMACHC AMN MTR MTRR ACSF3 SUCLA2 MMADHC LMBRD1 TCN2
More info about this panelInvitae Combined Methylmalonic Acidemia and Homocystinuria Panel Panel
By Invitae in United States. Invitae Combined Methylmalonic Acidemia and Homocystinuria Panel that also includes the following genes: MMACHC AMN MMADHC LMBRD1 TCN2 CUBN GIF ABCD4 HCFC1 CD320
More info about this panelInvitae Treatable Neurometabolic Disorders Panel Panel
By Invitae in United States. Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: MTHFR MCCC1 MCCC2 ACAT1 ARG1 HLCS ATP7A BTD ATP7B AUH
More info about this panelGIF Panel
By Fulgent Genetics Fulgent Genetics in United States.
This panel specifically test the GIF gene.
More info about this panelOrganic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel
By Blueprint Genetics in Finland. Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: MTHFR MCCC1 MCCC2 ACAT1 BCKDHA BCKDHB BCS1L MMACHC AMN MTR
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics in Finland. Comprehensive Metabolism Panel that also includes the following genes: HFE MTHFR MCCC1 MCCC2 ACAD9 ACADL ACADM ACADS AGL ACADVL
More info about this panelHEREDITARY JUVENILE MEGALOBLASTIC ANEMIA DUE TO INTRINSIC FACTOR DEFICIENCY Panel
By Laboratorio de Genetica Clinica SL in Spain.
This panel specifically test the GIF gene.
More info about this panelMEGALOBLASTIC ANEMIA: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL in Spain. MEGALOBLASTIC ANEMIA: NGS PANEL that also includes the following genes: AMN CUBN GIF SLC19A2 DHFR
More info about this panelMegaloblastic Anemia and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel
By Reference Laboratory Genetics in Spain. Megaloblastic Anemia and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: AMN CUBN GIF SLC19A2 DHFR
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