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 volume

Not very common - Between 30% and 50% cases

Megaloblastic anemia

Commonly - More than 50% cases

Macrocytic anemia

Not very common - Between 30% and 50% cases

Abnormality of the immune system

Commonly - More than 50% cases

Pancytopenia

Not very common - Between 30% and 50% cases

Intellectual disability

Commonly - More than 50% cases

Sensory impairment

Not very common - Between 30% and 50% cases

Paresthesia

And 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

SOURCES: UMLS OMIM ORPHANET

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 panel

Methylmalonic 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 panel

Cobalamin 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 panel

Cobalamin/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 panel

Intrinsic factor deficiency (sequence analysis of GIF gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the GIF gene.

More info about this panel

Disorders 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 panel

Gastric 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 panel

Megaloblastic 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 panel

Intrinsic factor deficiency Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the GIF gene.

More info about this panel

Erythrocytes, 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 panel

Methylmalonic 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 panel

Invitae 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 panel

Invitae 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 panel

GIF Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the GIF gene.

More info about this panel

Organic 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 panel

Comprehensive 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 panel

HEREDITARY 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 panel

MEGALOBLASTIC 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 panel

Megaloblastic 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

More info about this panel


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