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.

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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

SOURCES: OMIM ORPHANET


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

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

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

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

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

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

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

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

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

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

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

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

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

AMN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AMN gene.

More info about this panel

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

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

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

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

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

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

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

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


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