Congenital Intrinsic Factor Deficiency

Description

Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Intrinsic Factor Deficiency

  • Intellectual disability
  • Failure to thrive
  • Anemia
  • Fatigue
  • Abnormality of metabolism/homeostasis
  • Depressivity
  • Jaundice
  • Proteinuria
  • Malabsorption
  • Confusion

And another 12 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

Congenital Intrinsic Factor Deficiency Is also known as intrinsic factor deficiency, ifd, hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency, congenital pernicious anemia, gastric intrinsic factor deficiency, pernicious anemia, congenital, due to defect of intrinsic factor.

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.

Congenital Intrinsic Factor Deficiency 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 %
Methylmalonic Acidemia Sequencing NextGen Panel.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

SUCLA2, TCN1, TCN2, CBS, CD320, MCEE, MMAA, MMAB, ACSF3, CBLIF, IVD, MTHFR, MTR
Specificity
8 %
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
4 %
Genes
100 %
Intrinsic factor deficiency (sequence analysis of GIF gene).

By CGC Genetics (Portugal).

CBLIF
Specificity
100 %
Genes
100 %
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
4 %
Genes
100 %
Gastric intrinsic factor deficiency (GIF).

By VU University Medical Center Metabolic Unit, PX 1X 009 (Netherlands).

CBLIF
Specificity
100 %
Genes
100 %
Megaloblastic anemia panel.

By Centogene AG - the Rare Disease Company (Germany).

AMN, CUBN, CBLIF
Specificity
34 %
Genes
100 %
Intrinsic factor deficiency.

By Centogene AG - the Rare Disease Company (Germany).

CBLIF
Specificity
100 %
Genes
100 %

You can get up to 10 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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