AMN gene related symptoms and diseases
All the information presented here about the AMN 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 AMN gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Uncommon - Between 30% and 50% cases |
| Dementia | Uncommon - Between 30% and 50% cases |
| Proteinuria | Uncommon - Between 30% and 50% cases |
| Paralysis | Uncommon - Between 30% and 50% cases |
| Autoimmunity | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with AMN gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Malabsorption
- Paresthesia
- Confusion
- Sensory impairment
- Thyroiditis
- Megaloblastic anemia
- Poikiloderma
- Vitamin B12 deficiency
And 1 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AMN gene
Here you will find a list of rare diseases related to the AMN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GRÄSBECK-IMERSLUND DISEASE
Alternate names
GRÄSBECK-IMERSLUND DISEASE Is also known as selective cobalamin malabsorption with proteinuria, familial megaloblastic anemia
Description
Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.
More info about GRÄSBECK-IMERSLUND DISEASE
SOURCES: ORPHANET
MEGALOBLASTIC ANEMIA 1
Alternate names
MEGALOBLASTIC ANEMIA 1 Is also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria, mga1, enterocyte intrinsic factor receptor, defect of, enterocyte cobalamin malabsorption, igs, imerslund-grasbeck syndrome
Description
Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (OMIM ).Adult pernicious anemia (OMIM ) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.
Most common symptoms of MEGALOBLASTIC ANEMIA 1
- Anemia
- Dementia
- Proteinuria
- Paralysis
- Autoimmunity
More info about MEGALOBLASTIC ANEMIA 1
Search interest in AMN
Potential gene panels for AMN 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.
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS MCEE MMAA MMAB LMBRD1
More info about this panel United States.
Megaloblastic anemia-1, Norwegian type (sequence analysis of AMN gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the AMN gene.
More info about this panel Portugal.
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
More info about this panel United States.
Megaloblastic anemia-1, Norwegian type (AMN) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the AMN gene.
More info about this panel Netherlands.
Megaloblastic anemia panel Panel
Germany.
By Centogene AG - the Rare Disease Company Megaloblastic anemia panel that also includes the following genes: AMN CUBN CBLIF
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Megaloblastic anemia type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the AMN gene.
More info about this panel Germany.
Erythrocytes, Anemia Panel Panel
Germany.
By CeGaT GmbH Erythrocytes, Anemia Panel that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7 SEC23B
More info about this panel Germany.
Methylmalonic Aciduria and Homocystinuria Panel
Estonia.
By Asper Biogene Asper Biogene LLC Methylmalonic Aciduria and Homocystinuria that also includes the following genes: SUCLA2 SUCLG1 TCN1 TCN2 AMN CBS CD320 MCEE MMAA MMAB
More info about this panel Estonia.
Invitae Combined Methylmalonic Acidemia and Homocystinuria Panel Panel
United States.
By Invitae Invitae Combined Methylmalonic Acidemia and Homocystinuria Panel that also includes the following genes: TCN1 TCN2 AMN CD320 LMBRD1 MMACHC MMADHC CUBN CBLIF HCFC1
More info about this panel United States.
Invitae Treatable Neurometabolic Disorders Panel Panel
United States.
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel United States.
Megaloblastica anemia 1: AMN gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the AMN gene.
More info about this panel Spain.
AMN Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AMN gene.
More info about this panel United States.
Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel
Finland.
By Blueprint Genetics Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: BCS1L SLC25A1 SUCLG1 TCN2 UMPS AMN CBS SUGCT CD320 MCEE
More info about this panel Finland.
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 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.
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 Finland.
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 Spain.
MEGALOBLASTIC ANEMIA (GRÕSBECK-IMERSLUND DISEASE) Panel
Spain.
By Laboratorio de Genetica Clinica SL MEGALOBLASTIC ANEMIA (GRÕSBECK-IMERSLUND DISEASE) that also includes the following genes: AMN CUBN
More info about this panel Spain.
Imerslund-Grasbeck Syndrome Norwegian Type , Sequencing AMN Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the AMN gene.
More info about this panel Spain.
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 Spain.
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