IFD
MCID: CNG016
MIFTS: 31

Congenital Intrinsic Factor Deficiency (IFD)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Congenital Intrinsic Factor Deficiency

MalaCards integrated aliases for Congenital Intrinsic Factor Deficiency:

Name: Congenital Intrinsic Factor Deficiency 12 59 15
Intrinsic Factor Deficiency 59 72
Hereditary Juvenile Megaloblastic Anemia Due to Intrinsic Factor Deficiency 59
Intrinsic Factor Deficiency, Congenital, Susceptibility to 6
Megaloblastic Anemia Due to Inborn Errors of Metabolism 72
Congenital Deficiency of Intrinsic Factor 72
Hereditary Intrinsic Factor Deficiency 12
Gastric Intrinsic Factor Deficiency 59
Congenital Pernicious Anemia 59
Ifd 59

Characteristics:

Orphanet epidemiological data:

59
congenital intrinsic factor deficiency
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050734
ICD10 via Orphanet 34 D51.0
UMLS via Orphanet 73 C0340957 C1394891
Orphanet 59 ORPHA332
UMLS 72 C0340957 C1306856 C1394891

Summaries for Congenital Intrinsic Factor Deficiency

Disease Ontology : 12 A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.

MalaCards based summary : Congenital Intrinsic Factor Deficiency, also known as intrinsic factor deficiency, is related to megaloblastic anemia 1 and megaloblastic anemia. An important gene associated with Congenital Intrinsic Factor Deficiency is CBLIF (Cobalamin Binding Intrinsic Factor), and among its related pathways/superpathways are HIV Life Cycle and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include testes, and related phenotypes are cardiovascular system and mortality/aging

Related Diseases for Congenital Intrinsic Factor Deficiency

Diseases related to Congenital Intrinsic Factor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 megaloblastic anemia 1 31.0 CUBN CBLIF AMN
2 megaloblastic anemia 28.9 CUBN CBLIF AMN
3 intrinsic factor deficiency 11.8
4 constitutional megaloblastic anemia due to vitamin b12 metabolism disorder 10.6
5 myeloma, multiple 10.2
6 aspergillosis 10.2
7 myelodysplastic syndrome 10.2
8 invasive aspergillosis 10.2
9 atrophic gastritis 9.9
10 pernicious anemia 9.9
11 vitamin b12 deficiency 9.9
12 helicobacter pylori infection 9.7
13 deficiency anemia 9.7
14 gastritis 9.7
15 spastic paraparesis 9.7
16 vitamin metabolic disorder 9.7 CUBN AMN
17 3-methylglutaconic aciduria, type i 9.6 CUBN AMN
18 donnai-barrow syndrome 9.4 CUBN AMN

Graphical network of the top 20 diseases related to Congenital Intrinsic Factor Deficiency:



Diseases related to Congenital Intrinsic Factor Deficiency

Symptoms & Phenotypes for Congenital Intrinsic Factor Deficiency

MGI Mouse Phenotypes related to Congenital Intrinsic Factor Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 AMN CBL CUBN F3
2 mortality/aging MP:0010768 9.02 AMN CBL CBLIF CUBN F3

Drugs & Therapeutics for Congenital Intrinsic Factor Deficiency

Search Clinical Trials , NIH Clinical Center for Congenital Intrinsic Factor Deficiency

Genetic Tests for Congenital Intrinsic Factor Deficiency

Anatomical Context for Congenital Intrinsic Factor Deficiency

MalaCards organs/tissues related to Congenital Intrinsic Factor Deficiency:

41
Testes

Publications for Congenital Intrinsic Factor Deficiency

Articles related to Congenital Intrinsic Factor Deficiency:

(show all 44)
# Title Authors PMID Year
1
Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency. 38 71
14576042 2004
2
A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. 38 71
14695536 2004
3
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. 71
15738392 2005
4
Vitamin B12 Deficiency in a Patient Presenting with Dyspnea: A Case Report. 38
31172130 2019
5
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario. 38
25308559 2015
6
Frequency of intrinsic factor antibody in megaloblastic anaemia. 38
24613108 2014
7
Vitamin B12 absorption: mammalian physiology and acquired and inherited disorders. 38
23178706 2013
8
Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant. 38
23402911 2013
9
Hereditary intrinsic factor deficiency in chaldeans. 38
23430489 2013
10
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption? 38
22854512 2012
11
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. 38
22929189 2012
12
Diagnosis and management of pernicious anemia. 38
21947876 2011
13
Inborn errors of cobalamin absorption and metabolism. 38
21312325 2011
14
Pernicious anemia: new insights from a gastroenterological point of view. 38
19891010 2009
15
[Oral better than parenteral supplementation of vitamin B12]. 38
19900336 2009
16
[Hereditary juvenile cobalamin deficiency due to mutations in GIF gene]. 38
18620679 2008
17
Acquired and inherited disorders of cobalamin and folate in children. 38
16846473 2006
18
Nonradioactive vitamin B12 absorption test evaluated in controls and in patients with inherited malabsorption of vitamin B12. 38
16166166 2005
19
[Vitamin B12 deficiency. New data on an old theme]. 38
16395986 2005
20
Case of megaloblastic anemia caused by intestinal taeniasis. 38
14730392 2004
21
[Atrophic gastritis presenting with pulmonary embolism]. 38
11341183 2000
22
Genetic defects of folate and cobalamin metabolism. 38
9587028 1998
23
Primary gastric lymphoma presenting with vitamin B12 deficiency and achlorhydria. 38
8946996 1996
24
[Dementia caused by bacterial overgrowth in a patient with Billroth II gastrectomy]. 38
8755325 1996
25
[Imerslund-Najman-Grasbeck anemia. Apropos of a case]. 38
8015868 1993
26
Bound vitamin B12 absorption in patients with low serum B12 levels. 38
1609768 1992
27
Congenital intrinsic factor deficiency in a Spanish patient. 38
1581408 1992
28
One-step chromogenic equivalent of activated partial thromboplastin time evaluated for clinical application. 38
1855296 1991
29
[Congenital intrinsic factor deficiency. Apropos of 3 cases in a sibship]. 38
3395196 1988
30
Incidence and clinical significance of protein-bound vitamin B12 malabsorption. 38
3595808 1987
31
Malabsorption of vitamin B12 and intrinsic factor secretion during biguanide therapy. 38
6825978 1983
32
Gastric juice in congenital pernicious anemia contains no immunoreactive intrinsic factor molecule: study of three kindreds with variable ages at presentation, including a patient first diagnosed in adulthood. 38
6823973 1983
33
[Influence of intrinsic factor deficiency on malabsorption of vitamin B12 bound to proteins in achlorhydria]. 38
7117768 1982
34
Intrinsic factor deficiency in adults with normal hydrochloric acid production. 38
7450447 1981
35
[Vitamins in metabolic diseases]. 38
7027768 1981
36
[Juvenile pernicious anemia with congenital intrinsic factor deficiency and intermediate intrinsic factor secretion in the parents]. 38
711491 1978
37
Vitamin B 12 malabsorption due to intrinsic factor deficiency in Indian subjects. 38
5078931 1972
38
Standardized annular assay of dual radioisotopes on a well type sodium iodide crystal. 38
5430423 1970
39
Simultaneous free and bound radioactive vitamin B-12 urinary excretion test. 38
5835443 1965
40
INTRINSIC FACTOR DEFICIENCY IN MALIGNANT NEOPLASIA OF THE STOMACH. 38
14082869 1963
41
Simultaneous administration of gastric juice--bound and free radioactive cyanocobalamin: rapid procedure for differentiating between intrinsic factor deficiency and other causes of vitamin B 12 malabsorption. 38
14031310 1963
42
Intrinsic factor deficiency, achlorhydria, and malignancy in polyps of the stomach and duodenum. 38
13889742 1962
43
[Recent methods of studies on the differential diagnosis of multiple sclerosis & vitamin B12 deficiency; vitamin B12 & intrinsic factor deficiency in a patient with spastic paraparesis & light anemia with normoblastic erythropoiesis]. 38
13592978 1958
44
Some observations on nontropical sprue; a case with hypocalcemia, intrinsic factor deficiency anemia and diabetes mellitus. 38
13595357 1958

Variations for Congenital Intrinsic Factor Deficiency

ClinVar genetic disease variations for Congenital Intrinsic Factor Deficiency:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CBLIF NM_005142.3(CBLIF): c.68A> G (p.Gln23Arg) single nucleotide variant Benign rs35211634 11:59612859-59612859 11:59845386-59845386

Expression for Congenital Intrinsic Factor Deficiency

Search GEO for disease gene expression data for Congenital Intrinsic Factor Deficiency.

Pathways for Congenital Intrinsic Factor Deficiency

Pathways related to Congenital Intrinsic Factor Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 CUBN CBLIF CBL AMN
2
Show member pathways
12.1 CUBN CBLIF AMN
3
Show member pathways
11.74 CUBN CBLIF
4
Show member pathways
11.3 CUBN CBLIF AMN
5 10.64 CUBN CBLIF
6 10.45 CUBN CBLIF AMN
7
Show member pathways
9.64 CUBN CBLIF AMN

GO Terms for Congenital Intrinsic Factor Deficiency

Cellular components related to Congenital Intrinsic Factor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.58 CUBN CBLIF AMN
2 lysosomal lumen GO:0043202 9.37 CUBN CBLIF
3 apical part of cell GO:0045177 9.32 CUBN AMN
4 clathrin-coated pit GO:0005905 9.26 CUBN AMN
5 endocytic vesicle GO:0030139 9.16 CUBN AMN
6 brush border membrane GO:0031526 8.96 CUBN AMN
7 apical plasma membrane GO:0016324 8.8 CUBN CBLIF AMN

Biological processes related to Congenital Intrinsic Factor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.26 CUBN AMN
2 high-density lipoprotein particle clearance GO:0034384 9.16 CUBN AMN
3 cobalamin metabolic process GO:0009235 9.13 CUBN CBLIF AMN
4 cobalamin transport GO:0015889 8.8 CUBN CBLIF AMN

Molecular functions related to Congenital Intrinsic Factor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cobalamin binding GO:0031419 8.62 CUBN CBLIF

Sources for Congenital Intrinsic Factor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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