MCID: CNG016
MIFTS: 35

Congenital Intrinsic Factor Deficiency

Categories: Blood diseases, Gastrointestinal 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 60 15
Intrinsic Factor Deficiency 60 74
Hereditary Juvenile Megaloblastic Anemia Due to Intrinsic Factor Deficiency 60
Megaloblastic Anemia Due to Inborn Errors of Metabolism 74
Congenital Deficiency of Intrinsic Factor 74
Hereditary Intrinsic Factor Deficiency 12
Gastric Intrinsic Factor Deficiency 60
Congenital Pernicious Anemia 60
Gastric Intrinsic Factor 13
Ifd 60

Characteristics:

Orphanet epidemiological data:

60
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 35 D51.0
UMLS via Orphanet 75 C0340957 C1394891
Orphanet 60 ORPHA332

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 intrinsic factor deficiency. An important gene associated with Congenital Intrinsic Factor Deficiency is CBLIF (Cobalamin Binding Intrinsic Factor), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Selenium Micronutrient Network. The drugs Hydroxocobalamin and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include lung.

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 30.9 AMN CBLIF CUBN
2 intrinsic factor deficiency 11.7
3 colorectal adenoma 10.6
4 pernicious anemia 10.5
5 myelodysplastic syndrome 10.1
6 cystic fibrosis 9.8
7 leukemia, acute lymphoblastic 9.8
8 leukemia 9.8
9 vitamin b12 deficiency 9.8
10 lymphocytic leukemia 9.8
11 blind loop syndrome 9.8
12 gastritis 9.8
13 deficiency anemia 9.7
14 diabetes mellitus 9.7
15 vitamin metabolic disorder 9.6 AMN CUBN
16 3-methylglutaconic aciduria, type i 9.6 AMN CUBN
17 donnai-barrow syndrome 9.4 AMN CUBN
18 megaloblastic anemia 9.4 AMN CBLIF CUBN

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

Drugs & Therapeutics for Congenital Intrinsic Factor Deficiency

Drugs for Congenital Intrinsic Factor Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 4,Phase 2 13422-51-0 15589840 11953898
2
Methylcobalamin Approved, Experimental, Investigational Phase 4,Phase 2 13422-55-4
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-30-3 6037
4
Cyanocobalamin Approved, Nutraceutical Phase 4,Phase 2 68-19-9 44176380
5
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
6
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
7
Cobalamin Experimental Phase 4,Phase 2 13408-78-1 6857388
8 Folate Phase 4,Phase 2
9 Vitamin B Complex Phase 4,Phase 2
10 Vitamin B 12 Phase 4,Phase 2
11 Vitamins Phase 4,Phase 2
12 Vitamin B12 Phase 4,Phase 2
13 Trace Elements Phase 4,Phase 2
14 Micronutrients Phase 4,Phase 2
15 Hematinics Phase 4,Phase 2
16 Nutrients Phase 4,Phase 2
17 Vitamin B9 Phase 4,Phase 2
18 Vitamin B 6 Phase 4
19 Thiamin Phase 4
20
Pyridoxal Experimental, Nutraceutical Phase 4 66-72-8 1050
21 Immunologic Factors Phase 3,Phase 2
22 Vaccines Phase 3
23
Apremilast Approved, Investigational Phase 2 608141-41-9 11561674
24 Anti-Bacterial Agents Phase 2
25 Analgesics Phase 2
26 Immunosuppressive Agents Phase 2
27 Anti-Inflammatory Agents, Non-Steroidal Phase 2
28 Analgesics, Non-Narcotic Phase 2
29 Anti-Infective Agents Phase 2
30 Angiogenesis Modulating Agents Phase 2
31 Peripheral Nervous System Agents Phase 2
32 Anti-Inflammatory Agents Phase 2
33 Angiogenesis Inhibitors Phase 2
34 Antirheumatic Agents Phase 2
35 Antibodies
36 Immunoglobulins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Megadose of Hydroxocobalamin for the Treatment of Pernicious Anemia Recruiting NCT03372447 Phase 4 Hydroxocobalamin 10,000mcg, Thiamin 100mg, Pyridoxine 50mg
2 Study to Evaluate Immunogenicity of the Hepatitis B Antigen of the GSK Biologicals' Candidate Malaria Vaccine (257049) Completed NCT01345240 Phase 3
3 Oral Vitamin B12 Administration for Vitamin B12 Deficiency After Total Gastrectomy Completed NCT00699478 Phase 2 mecobalamin
4 Combined Therapy With Narrow-Band Ultraviolet B Phototherapy and Apremilast for the Treatment of Vitiligo Active, not recruiting NCT03123016 Phase 2 Apremilast
5 Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity Recruiting NCT03941184
6 Clinical Course of Interstitial Lung Diseases: European IPF Registry and Biobank Recruiting NCT02951416

Search 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:

42
Lung

Publications for Congenital Intrinsic Factor Deficiency

Articles related to Congenital Intrinsic Factor Deficiency:

(show all 12)
# Title Authors Year
1
Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant. ( 23402911 )
2013
2
Hereditary intrinsic factor deficiency in chaldeans. ( 23430489 )
2013
3
A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. ( 14695536 )
2004
4
Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency. ( 14576042 )
2004
5
Congenital intrinsic factor deficiency in a Spanish patient. ( 1581408 )
1992
6
[Congenital intrinsic factor deficiency. Apropos of 3 cases in a sibship]. ( 3395196 )
1988
7
Intrinsic factor deficiency in adults with normal hydrochloric acid production. ( 7450447 )
1981
8
Vitamin B 12 malabsorption due to intrinsic factor deficiency in Indian subjects. ( 5078931 )
1972
9
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. ( 14031310 )
1963
10
INTRINSIC FACTOR DEFICIENCY IN MALIGNANT NEOPLASIA OF THE STOMACH. ( 14082869 )
1963
11
Intrinsic factor deficiency, achlorhydria, and malignancy in polyps of the stomach and duodenum. ( 13889742 )
1962
12
Some observations on nontropical sprue; a case with hypocalcemia, intrinsic factor deficiency anemia and diabetes mellitus. ( 13595357 )
1958

Variations for Congenital Intrinsic Factor Deficiency

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
12.1 AMN CBLIF CUBN
2
Show member pathways
11.7 CBLIF CUBN
3
Show member pathways
11.3 AMN CBLIF CUBN
4 10.64 CBLIF CUBN
5 10.45 AMN CBLIF CUBN
6
Show member pathways
9.64 AMN CBLIF CUBN

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 9.5 AMN CBLIF CUBN
2 endosome membrane GO:0010008 9.43 AMN CUBN
3 lysosomal lumen GO:0043202 9.4 CBLIF CUBN
4 apical part of cell GO:0045177 9.37 AMN CUBN
5 clathrin-coated pit GO:0005905 9.26 AMN CUBN
6 endocytic vesicle GO:0030139 9.16 AMN CUBN
7 brush border membrane GO:0031526 8.96 AMN CUBN
8 apical plasma membrane GO:0016324 8.8 AMN CBLIF CUBN

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 AMN CUBN
2 high-density lipoprotein particle clearance GO:0034384 9.16 AMN CUBN
3 cobalamin metabolic process GO:0009235 9.13 AMN CBLIF CUBN
4 cobalamin transport GO:0015889 8.8 AMN CBLIF CUBN

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 CBLIF CUBN

Sources for Congenital Intrinsic Factor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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