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Hereditary intrinsic factor deficiency(IFD)

MedGen UID:
235598
Concept ID:
C1394891
Disease or Syndrome
Synonyms: Congenital intrinsic factor deficiency; IFD; Intrinsic factor deficiency; PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR
SNOMED CT: Congenital deficiency of intrinsic factor (234361004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): CBLIF (11q12.1)
 
Monarch Initiative: MONDO:0009852
OMIM®: 261000
Orphanet: ORPHA332

Definition

Intrinsic factor deficiency (IFD), or congenital pernicious anemia, 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 (170900). See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100). [from OMIM]

Clinical features

From HPO
Absence of intrinsic factor
MedGen UID:
867280
Concept ID:
C4021641
Finding
Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.
Paresthesia
MedGen UID:
14619
Concept ID:
C0030554
Disease or Syndrome
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Somatic sensory dysfunction
MedGen UID:
1790456
Concept ID:
C5551413
Finding
An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.
Megaloblastic anemia
MedGen UID:
1527
Concept ID:
C0002888
Disease or Syndrome
Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).
Increased mean corpuscular volume
MedGen UID:
81303
Concept ID:
C0302845
Finding
Larger than normal size of erythrocytes.
Increased RBC distribution width
MedGen UID:
1630967
Concept ID:
C0948014
Finding
Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.
Megaloblastic erythroid hyperplasia
MedGen UID:
235316
Concept ID:
C1334688
Finding
A laboratory test result indicating an abnormally high quantity of abnormal immature red blood cells with megaloblastic features.
Cobalamin deficiency
MedGen UID:
21880
Concept ID:
C0042847
Disease or Syndrome
The concentration of vitamin B12 in the blood circulation is below the lower limit of normal.
Malabsorption of Vitamin B12
MedGen UID:
852749
Concept ID:
C0750292
Finding
Increased circulating lactate dehydrogenase concentration
MedGen UID:
1377250
Concept ID:
C4477095
Finding
An elevated level of the enzyme lactate dehydrogenase in the blood circulation.
Reduced haptoglobin level
MedGen UID:
1686017
Concept ID:
C5209264
Finding
An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary intrinsic factor deficiency

Recent clinical studies

Diagnosis

Ruan J, Han B, Zhuang J, Chen M, Chen F, Huang Y, Zhou W
BMC Med Genet 2020 Nov 10;21(1):221. doi: 10.1186/s12881-020-01158-z. PMID: 33172407Free PMC Article
Boina Abdallah A, Ogier de Baulny H, Kozyraki R, Passemard S, Fenneteau O, Lebon S, Rigal O, Mesples B, Yacouben K, Giraudier S, Benoist JF, Schiff M
Mol Genet Metab 2012 Sep;107(1-2):66-71. Epub 2012 Jul 20 doi: 10.1016/j.ymgme.2012.07.007. PMID: 22854512

Therapy

Boina Abdallah A, Ogier de Baulny H, Kozyraki R, Passemard S, Fenneteau O, Lebon S, Rigal O, Mesples B, Yacouben K, Giraudier S, Benoist JF, Schiff M
Mol Genet Metab 2012 Sep;107(1-2):66-71. Epub 2012 Jul 20 doi: 10.1016/j.ymgme.2012.07.007. PMID: 22854512

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