MCID: CNG016
MIFTS: 28

Congenital Intrinsic Factor Deficiency

Categories: Metabolic diseases, Blood diseases, Rare diseases, Gastrointestinal 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 73
Hereditary Juvenile Megaloblastic Anemia Due to Intrinsic Factor Deficiency 59
Megaloblastic Anemia Due to Inborn Errors of Metabolism 73
Congenital Deficiency of Intrinsic Factor 73
Hereditary Intrinsic Factor Deficiency 12
Gastric Intrinsic Factor Deficiency 59
Congenital Pernicious Anemia 59
Gastric Intrinsic Factor 13
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
Orphanet 59 ORPHA332
UMLS via Orphanet 74 C0340957 C1394891
ICD10 via Orphanet 34 D51.0

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 intrinsic factor deficiency and 3-methylglutaconic aciduria, type i. An important gene associated with Congenital Intrinsic Factor Deficiency is GIF (Gastric Intrinsic Factor), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism. 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:

# Related Disease Score Top Affiliating Genes
1 intrinsic factor deficiency 11.5
2 3-methylglutaconic aciduria, type i 9.5 AMN CUBN
3 vitamin b12 deficiency 9.4 AMN GIF
4 megaloblastic anemia 1 9.2 AMN CUBN GIF
5 vitamin metabolic disorder 9.1 AMN CUBN GIF
6 megaloblastic anemia 9.0 AMN CUBN GIF

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 CTH CUBN F3
2 mortality/aging MP:0010768 9.02 AMN CTH CUBN F3 GIF

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

Publications for Congenital Intrinsic Factor Deficiency

Articles related to Congenital Intrinsic Factor Deficiency:

# Title Authors Year
1
A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. ( 14695536 )
2004
2
Congenital intrinsic factor deficiency in a Spanish patient. ( 1581408 )
1992
3
[Congenital intrinsic factor deficiency. Apropos of 3 cases in a sibship]. ( 3395196 )
1988

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
12.15 AMN CUBN GIF
2
Show member pathways
11.77 CTH CUBN GIF
3
Show member pathways
11.3 AMN CUBN GIF
4 10.7 CUBN GIF
5 10.45 AMN CUBN GIF
6
Show member pathways
9.64 AMN CUBN GIF

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 extracellular exosome GO:0070062 9.73 AMN CTH CUBN F3
2 endosome GO:0005768 9.58 AMN CUBN GIF
3 endosome membrane GO:0010008 9.46 AMN CUBN
4 lysosomal lumen GO:0043202 9.37 CUBN GIF
5 apical part of cell GO:0045177 9.32 AMN CUBN
6 clathrin-coated pit GO:0005905 9.26 AMN CUBN
7 endocytic vesicle GO:0030139 9.16 AMN CUBN
8 brush border membrane GO:0031526 8.96 AMN CUBN
9 apical plasma membrane GO:0016324 8.8 AMN CUBN GIF

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 CUBN GIF
4 cobalamin transport GO:0015889 8.8 AMN CUBN GIF

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 GIF

Sources for Congenital Intrinsic Factor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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