IFD
MCID: CNG016
MIFTS: 36

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 58 6 15
Intrinsic Factor Deficiency 58 71
Hereditary Juvenile Megaloblastic Anemia Due to Intrinsic Factor Deficiency 58
Intrinsic Factor Deficiency, Congenital, Susceptibility to 6
Megaloblastic Anemia Due to Inborn Errors of Metabolism 71
Congenital Deficiency of Intrinsic Factor 71
Hereditary Intrinsic Factor Deficiency 12
Gastric Intrinsic Factor Deficiency 58
Congenital Pernicious Anemia 58
Ifd 58

Characteristics:

Orphanet epidemiological data:

58
congenital intrinsic factor deficiency
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0050734
ICD10 via Orphanet 33 D51.0
UMLS via Orphanet 72 C0340957 C1394891
Orphanet 58 ORPHA332
UMLS 71 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 pernicious 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, spleen and heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 megaloblastic anemia 1 32.5 CUBN CBLIF AMN
2 pernicious anemia 29.9 TCN2 TCN1 CBLIF CBL
3 megaloblastic anemia 29.3 TCN2 TCN1 CUBN CD320 CBLIF CBL
4 deficiency anemia 29.2 TCN2 CBLIF CBL ALB
5 vitamin b12 deficiency 29.1 TCN2 TCN1 CUBN CD320 CBLIF CBL
6 intrinsic factor deficiency 11.8
7 constitutional megaloblastic anemia due to vitamin b12 metabolism disorder 10.6
8 anal gland adenocarcinoma 10.4 TCN2 CD320
9 copper deficiency myelopathy 10.4 TCN1 CBLIF
10 anus adenocarcinoma 10.4 TCN2 CD320
11 fanconi-like syndrome 10.4 LRP2 CUBN
12 spleen angiosarcoma 10.4 TCN2 CD320
13 3-methylglutaconic aciduria, type i 10.3 CUBN CBLIF AMN
14 donnai-barrow syndrome 10.3 LRP2 CUBN AMN
15 periodontal ehlers-danlos syndrome 10.3 C1S C1R
16 immunodeficiency due to a classical component pathway complement deficiency 10.3 C1S C1R
17 mobitz type ii atrioventricular block 10.3 TCN2 TCN1
18 ehlers-danlos syndrome, periodontal type, 2 10.3 C1S C1R
19 ehlers-danlos syndrome, periodontal type, 1 10.2 C1S C1R
20 transcobalamin ii deficiency 10.2 TCN2 TCN1 CBLIF
21 blind loop syndrome 10.2 CBLIF ALB
22 glossitis 10.2 TCN2 CBLIF
23 angular cheilitis 10.2 CBLIF ALB
24 omphalocele 10.2 TCN2 CD320 BMP1
25 fournier gangrene 10.1 F3 ALB
26 lymphoma, hodgkin, classic 10.1
27 myeloma, multiple 10.1
28 lymphoma, non-hodgkin, familial 10.1
29 leukemia, acute lymphoblastic 10.1
30 aspergillosis 10.1
31 myelodysplastic syndrome 10.1
32 invasive aspergillosis 10.1
33 lymphocytic leukemia 10.1
34 neutropenia 10.1
35 mucormycosis 10.1
36 complement component 3 deficiency 10.1 C1S C1R
37 hepatic infarction 10.1 F3 ALB
38 gingival recession 10.1 C1S C1R
39 epidural abscess 10.1 F3 ALB
40 subacute glomerulonephritis 10.1 EEF2 ALB
41 aspiration pneumonitis 10.1 F3 ALB
42 cystinosis 10.1 LRP2 CUBN ALB
43 active peptic ulcer disease 10.0 F3 ALB
44 fanconi syndrome 10.0 LRP2 CUBN ALB
45 homocystinuria 10.0 TCN2 CBLIF ALB
46 hemolytic uremic syndrome, atypical 1 10.0 F3 C1S C1R
47 hydrops, lactic acidosis, and sideroblastic anemia 10.0 C1S ALB
48 atrophic gastritis 9.9
49 analbuminemia 9.9 F3 ALB
50 tropical sprue 9.9 TCN1 CBLIF AMN ALB

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

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.5 SMAD9
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.5 SMAD9
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.5 TCN2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.5 SMAD9
5 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.5 EEF2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.5 SMAD9
7 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.5 EEF2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.5 SMAD9
9 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.5 EEF2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.5 EEF2 SMAD9 TCN2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.5 TCN2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.5 TCN2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.5 SMAD9

MGI Mouse Phenotypes related to Congenital Intrinsic Factor Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.28 ALB AMN BMP1 CBL CD320 CUBN

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:

40
Testes, Spleen, Heart

Publications for Congenital Intrinsic Factor Deficiency

Articles related to Congenital Intrinsic Factor Deficiency:

(show all 45)
# Title Authors PMID Year
1
Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency. 61 6
14576042 2004
2
A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. 61 6
14695536 2004
3
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. 6
15738392 2005
4
Autoimmune Gastritis. 61
31661309 2019
5
Vitamin B12 Deficiency in a Patient Presenting with Dyspnea: A Case Report. 61
31172130 2019
6
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. 61
25308559 2015
7
Frequency of intrinsic factor antibody in megaloblastic anaemia. 61
24613108 2014
8
Vitamin B12 absorption: mammalian physiology and acquired and inherited disorders. 61
23178706 2013
9
Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant. 61
23402911 2013
10
Hereditary intrinsic factor deficiency in chaldeans. 61
23430489 2013
11
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption? 61
22854512 2012
12
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. 61
22929189 2012
13
Diagnosis and management of pernicious anemia. 61
21947876 2011
14
Inborn errors of cobalamin absorption and metabolism. 61
21312325 2011
15
Pernicious anemia: new insights from a gastroenterological point of view. 61
19891010 2009
16
[Oral better than parenteral supplementation of vitamin B12]. 61
19900336 2009
17
[Hereditary juvenile cobalamin deficiency due to mutations in GIF gene]. 61
18620679 2008
18
Acquired and inherited disorders of cobalamin and folate in children. 61
16846473 2006
19
Nonradioactive vitamin B12 absorption test evaluated in controls and in patients with inherited malabsorption of vitamin B12. 61
16166166 2005
20
[Vitamin B12 deficiency. New data on an old theme]. 61
16395986 2005
21
Case of megaloblastic anemia caused by intestinal taeniasis. 61
14730392 2004
22
[Atrophic gastritis presenting with pulmonary embolism]. 61
11341183 2000
23
Genetic defects of folate and cobalamin metabolism. 61
9587028 1998
24
Primary gastric lymphoma presenting with vitamin B12 deficiency and achlorhydria. 61
8946996 1996
25
[Dementia caused by bacterial overgrowth in a patient with Billroth II gastrectomy]. 61
8755325 1996
26
[Imerslund-Najman-Grasbeck anemia. Apropos of a case]. 61
8015868 1993
27
Bound vitamin B12 absorption in patients with low serum B12 levels. 61
1609768 1992
28
Congenital intrinsic factor deficiency in a Spanish patient. 61
1581408 1992
29
One-step chromogenic equivalent of activated partial thromboplastin time evaluated for clinical application. 61
1855296 1991
30
[Congenital intrinsic factor deficiency. Apropos of 3 cases in a sibship]. 61
3395196 1988
31
Incidence and clinical significance of protein-bound vitamin B12 malabsorption. 61
3595808 1987
32
Malabsorption of vitamin B12 and intrinsic factor secretion during biguanide therapy. 61
6825978 1983
33
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. 61
6823973 1983
34
[Influence of intrinsic factor deficiency on malabsorption of vitamin B12 bound to proteins in achlorhydria]. 61
7117768 1982
35
Intrinsic factor deficiency in adults with normal hydrochloric acid production. 61
7450447 1981
36
[Vitamins in metabolic diseases]. 61
7027768 1981
37
[Juvenile pernicious anemia with congenital intrinsic factor deficiency and intermediate intrinsic factor secretion in the parents]. 61
711491 1978
38
Vitamin B 12 malabsorption due to intrinsic factor deficiency in Indian subjects. 61
5078931 1972
39
Standardized annular assay of dual radioisotopes on a well type sodium iodide crystal. 61
5430423 1970
40
Simultaneous free and bound radioactive vitamin B-12 urinary excretion test. 61
5835443 1965
41
INTRINSIC FACTOR DEFICIENCY IN MALIGNANT NEOPLASIA OF THE STOMACH. 61
14082869 1963
42
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. 61
14031310 1963
43
Intrinsic factor deficiency, achlorhydria, and malignancy in polyps of the stomach and duodenum. 61
13889742 1962
44
[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]. 61
13592978 1958
45
Some observations on nontropical sprue; a case with hypocalcemia, intrinsic factor deficiency anemia and diabetes mellitus. 61
13595357 1958

Variations for Congenital Intrinsic Factor Deficiency

ClinVar genetic disease variations for Congenital Intrinsic Factor Deficiency:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CBLIF NM_005142.3(CBLIF):c.79+1G>ASNV Pathogenic 439755 rs147785187 11:59612847-59612847 11:59845374-59845374
2 CBLIF NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu)SNV Conflicting interpretations of pathogenicity 1746 rs121434322 11:59611471-59611471 11:59843998-59843998
3 CBLIF NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg)SNV Benign 1742 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
13.43 TCN2 EEF2 CUBN CD320 CBLIF CBL
2
Show member pathways
12.41 TCN2 TCN1 LRP2 CUBN CD320 CBLIF
3
Show member pathways
12.27 CUBN BMP1 AMN ALB
4
Show member pathways
11.97 TCN2 TCN1 LRP2 CUBN CBLIF ALB
5 11.81 F3 C1S C1R
6
Show member pathways
11.32 TCN2 CUBN CD320 CBLIF AMN
7 10.92 TCN2 CUBN CBLIF
8 10.68 HSPA8 EEF2
9 10.42 TCN2 TCN1 CUBN CD320 CBLIF AMN
10
Show member pathways
10.34 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 9.85 TCN2 LRP2 CUBN CBLIF AMN
2 apical plasma membrane GO:0016324 9.78 LRP2 CUBN CBLIF AMN
3 extracellular space GO:0005615 9.7 TCN2 TCN1 HSPA8 F3 COL17A1 CBLIF
4 apical part of cell GO:0045177 9.61 LRP2 CUBN AMN
5 clathrin-coated pit GO:0005905 9.58 LRP2 CUBN AMN
6 blood microparticle GO:0072562 9.56 HSPA8 C1S C1R ALB
7 endocytic vesicle GO:0030139 9.54 LRP2 CUBN AMN
8 brush border membrane GO:0031526 9.5 LRP2 CUBN AMN
9 lysosomal lumen GO:0043202 9.46 TCN2 HSPA8 CUBN CBLIF
10 extracellular region GO:0005576 9.4 TCN2 TCN1 HSPA8 F3 EEF2 COL17A1

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

# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.58 LRP2 HSPA8 CBL
2 receptor-mediated endocytosis GO:0006898 9.56 LRP2 CUBN AMN ALB
3 cobalamin metabolic process GO:0009235 9.43 TCN2 TCN1 CUBN CD320 CBLIF AMN
4 vitamin D metabolic process GO:0042359 9.37 LRP2 CUBN
5 cobalt ion transport GO:0006824 9.33 TCN2 TCN1 CBLIF
6 high-density lipoprotein particle clearance GO:0034384 9.32 CUBN AMN
7 cobalamin transport GO:0015889 9.1 TCN2 TCN1 CUBN CD320 CBLIF AMN

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.5 LRP2 CUBN CD320 CBL C1S C1R
2 chaperone binding GO:0051087 9.43 LRP2 HSPA8 ALB
3 drug binding GO:0008144 9.33 LRP2 CUBN ALB
4 cobalamin binding GO:0031419 9.02 TCN2 TCN1 CUBN CD320 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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