Megaloblastic Anemia 1

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Megaloblastic Anemia 1

  • Anemia
  • Dementia
  • Proteinuria
  • Paralysis
  • Autoimmunity
  • Malabsorption
  • Paresthesia
  • Confusion
  • Sensory impairment
  • Thyroiditis

And another 4 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative 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.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Megaloblastic Anemia 1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SUCLA2, SUCLG1, TCN1, TCN2, AMN, CBS, MCEE, MMAA, MMAB, LMBRD1, MMACHC, MMADHC, CUBN, ACSF3, FCGR2A, CBLIF, HCFC1, ABCD4, MAT1A, MTHFR , (...)

View the complete list with 5 more genes
Specificity
8 %
Genes
100 %
Megaloblastic anemia-1, Finnish type (sequence analysis of CUBN gene).

By CGC Genetics (Portugal).

CUBN
Specificity
100 %
Genes
50 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, TP53RK, ACTN4, SCARB2, PLCE1, XPO5, OSGEP, NUP205, CRB2, MAGI2, COQ8B, KANK1, COQ6, COL4A3 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SUCLA2, SUCLG1, TCN1, TCN2, AMN, CBS, CD320, MCEE, MMAA, MMAB, LMBRD1, MMACHC, MMADHC, CUBN, ACSF3, SLC46A1, AHCY, FOLR1, CBLIF, GNMT , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
100 %
Nephrotic syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Nephrotic syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %
Nephrotic syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, ACTN4, SCARB2, PLCE1, NUP205, CRB2, MAGI2, COQ8B, COQ6, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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