IFD
MCID: CNG016
MIFTS: 36

Congenital Intrinsic Factor Deficiency (IFD)

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 58 6 15
Intrinsic Factor Deficiency 58 70
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 70
Congenital Deficiency of Intrinsic Factor 70
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 71 C0340957 C1394891
Orphanet 58 ORPHA332
UMLS 70 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 vitamin b12 deficiency 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 Metabolism of water-soluble vitamins and cofactors and Lipoprotein metabolism. Related phenotype is cardiovascular system.

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 87)
# Related Disease Score Top Affiliating Genes
1 vitamin b12 deficiency 29.9 TCN2 CUBN CBLIF AMN
2 pernicious anemia 29.7 TCN2 CBLIF CBL
3 megaloblastic anemia 29.2 TCN2 LRP2 CUBN CBLIF CBL AMN
4 intrinsic factor deficiency 11.4
5 diphyllobothriasis 10.3 CBLIF AMN
6 constitutional megaloblastic anemia due to vitamin b12 metabolism disorder 10.3
7 fanconi-like syndrome 10.3 LRP2 CUBN
8 transcobalamin ii deficiency 10.3 TCN2 CBLIF
9 blind loop syndrome 10.2 CBLIF ALB
10 imerslund-grasbeck syndrome 1 10.2 CUBN AMN
11 donnai-barrow syndrome 10.1 LRP2 CUBN AMN
12 periodontal ehlers-danlos syndrome 10.1 C1S C1R
13 ehlers-danlos syndrome, periodontal type, 1 10.1 C1S C1R
14 immunodeficiency due to a classical component pathway complement deficiency 10.1 C1S C1R
15 complement deficiency 10.1 C1S C1R
16 ehlers-danlos syndrome, periodontal type, 2 10.1 C1S C1R
17 vulvar angiokeratoma 10.1 F3 C1S
18 ankylosing spondylitis 1 10.1 F3 ALB
19 gingival recession 10.1 C1S C1R
20 epidural abscess 10.1 F3 ALB
21 hepatic infarction 10.1 F3 ALB
22 complement component 3 deficiency 10.1 C1S C1R
23 critical illness polyneuropathy 10.1 F3 ALB
24 mediastinitis 10.1 F3 ALB
25 aspiration pneumonitis 10.1 F3 ALB
26 intracranial embolism 10.1 F3 ALB
27 active peptic ulcer disease 10.1 F3 ALB
28 renal tubular transport disease 10.1 LRP2 CUBN
29 hepatic coma 10.1 F3 ALB
30 splenic infarction 10.1 F3 ALB
31 parametritis 10.1 F3 ALB
32 vulvar benign neoplasm 10.0 F3 C1S
33 analbuminemia 10.0 F3 ALB
34 c1 inhibitor deficiency 10.0 C1S C1R
35 acute kidney tubular necrosis 10.0 LRP2 ALB
36 cardiac tamponade 10.0 F3 ALB
37 tropical sprue 10.0 CBLIF AMN ALB
38 hantavirus hemorrhagic fever with renal syndrome 10.0 F3 ALB
39 esophageal varix 10.0 F3 ALB
40 compartment syndrome 10.0 F3 ALB
41 anuria 10.0 F3 ALB
42 cecal disease 10.0 F3 ALB
43 papilledema 10.0 F3 ALB
44 deficiency anemia 10.0
45 tricuspid valve disease 10.0 F3 ALB
46 tricuspid valve insufficiency 10.0 F3 ALB
47 thrombophlebitis 10.0 F3 ALB
48 proteinuria, chronic benign 10.0 LRP2 CUBN ALB
49 cystinosis 10.0 LRP2 CUBN ALB
50 bronchopneumonia 10.0 F3 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

MGI Mouse Phenotypes related to Congenital Intrinsic Factor Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.23 ALB AMN BMP1 CBL 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

Publications for Congenital Intrinsic Factor Deficiency

Articles related to Congenital Intrinsic Factor Deficiency:

(show all 49)
# Title Authors PMID Year
1
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. 6 61
25308559 2015
2
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption? 61 6
22854512 2012
3
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. 61 6
22929189 2012
4
Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency. 6 61
14576042 2004
5
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
6
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. 6
27577878 2017
7
Vitamin B12 deficiency in a 15-year old boy due to mutations in the intrinsic factor gene, GIF. 6
20408840 2010
8
Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF. 6
19036097 2009
9
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. 6
15738392 2005
10
Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene-a case report. 61
33172407 2020
11
Autoimmune Gastritis. 61
31661309 2019
12
Vitamin B12 Deficiency in a Patient Presenting with Dyspnea: A Case Report. 61
31172130 2019
13
Frequency of intrinsic factor antibody in megaloblastic anaemia. 61
24613108 2014
14
Vitamin B12 absorption: mammalian physiology and acquired and inherited disorders. 61
23178706 2013
15
Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant. 61
23402911 2013
16
Hereditary intrinsic factor deficiency in chaldeans. 61
23430489 2013
17
Diagnosis and management of pernicious anemia. 61
21947876 2011
18
Inborn errors of cobalamin absorption and metabolism. 61
21312325 2011
19
Pernicious anemia: new insights from a gastroenterological point of view. 61
19891010 2009
20
[Oral better than parenteral supplementation of vitamin B12]. 61
19900336 2009
21
[Hereditary juvenile cobalamin deficiency due to mutations in GIF gene]. 61
18620679 2008
22
Acquired and inherited disorders of cobalamin and folate in children. 61
16846473 2006
23
Nonradioactive vitamin B12 absorption test evaluated in controls and in patients with inherited malabsorption of vitamin B12. 61
16166166 2005
24
[Vitamin B12 deficiency. New data on an old theme]. 61
16395986 2005
25
Case of megaloblastic anemia caused by intestinal taeniasis. 61
14730392 2004
26
[Atrophic gastritis presenting with pulmonary embolism]. 61
11341183 2000
27
Genetic defects of folate and cobalamin metabolism. 61
9587028 1998
28
Primary gastric lymphoma presenting with vitamin B12 deficiency and achlorhydria. 61
8946996 1996
29
[Dementia caused by bacterial overgrowth in a patient with Billroth II gastrectomy]. 61
8755325 1996
30
[Imerslund-Najman-Grasbeck anemia. Apropos of a case]. 61
8015868 1993
31
Bound vitamin B12 absorption in patients with low serum B12 levels. 61
1609768 1992
32
Congenital intrinsic factor deficiency in a Spanish patient. 61
1581408 1992
33
One-step chromogenic equivalent of activated partial thromboplastin time evaluated for clinical application. 61
1855296 1991
34
[Congenital intrinsic factor deficiency. Apropos of 3 cases in a sibship]. 61
3395196 1988
35
Incidence and clinical significance of protein-bound vitamin B12 malabsorption. 61
3595808 1987
36
Malabsorption of vitamin B12 and intrinsic factor secretion during biguanide therapy. 61
6825978 1983
37
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
38
[Influence of intrinsic factor deficiency on malabsorption of vitamin B12 bound to proteins in achlorhydria]. 61
7117768 1982
39
Intrinsic factor deficiency in adults with normal hydrochloric acid production. 61
7450447 1981
40
[Vitamins in metabolic diseases]. 61
7027768 1981
41
[Juvenile pernicious anemia with congenital intrinsic factor deficiency and intermediate intrinsic factor secretion in the parents]. 61
711491 1978
42
Vitamin B 12 malabsorption due to intrinsic factor deficiency in Indian subjects. 61
5078931 1972
43
Standardized annular assay of dual radioisotopes on a well type sodium iodide crystal. 61
5430423 1970
44
Simultaneous free and bound radioactive vitamin B-12 urinary excretion test. 61
5835443 1965
45
INTRINSIC FACTOR DEFICIENCY IN MALIGNANT NEOPLASIA OF THE STOMACH. 61
14082869 1963
46
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
47
Intrinsic factor deficiency, achlorhydria, and malignancy in polyps of the stomach and duodenum. 61
13889742 1962
48
[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
49
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 (show top 50) (show all 57)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CBLIF NM_005142.3(CBLIF):c.161del (p.Asn54fs) Deletion Pathogenic 1747 rs1590860794 GRCh37: 11:59611447-59611447
GRCh38: 11:59843974-59843974
2 CBLIF NM_005142.3(CBLIF):c.1175dup (p.Thr393fs) Duplication Pathogenic 1748 rs1590854624 GRCh37: 11:59599167-59599168
GRCh38: 11:59831694-59831695
3 CBLIF NM_005142.3(CBLIF):c.80-1G>A SNV Pathogenic 1745 rs1590860877 GRCh37: 11:59611529-59611529
GRCh38: 11:59844056-59844056
4 CBLIF NM_005142.3(CBLIF):c.183_186del (p.Met61fs) Deletion Pathogenic 566919 rs765896727 GRCh37: 11:59611422-59611425
GRCh38: 11:59843949-59843952
5 CBLIF NM_005142.3(CBLIF):c.79+1G>A SNV Pathogenic 439755 rs147785187 GRCh37: 11:59612847-59612847
GRCh38: 11:59845374-59845374
6 CBLIF NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg) SNV Likely pathogenic 830018 rs1590859406 GRCh37: 11:59608648-59608648
GRCh38: 11:59841175-59841175
7 CBLIF NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) SNV risk factor 1742 rs35211634 GRCh37: 11:59612859-59612859
GRCh38: 11:59845386-59845386
8 CBLIF NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) SNV Conflicting interpretations of pathogenicity 1746 rs121434322 GRCh37: 11:59611471-59611471
GRCh38: 11:59843998-59843998
9 CBLIF NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu) SNV Conflicting interpretations of pathogenicity 305037 rs148081315 GRCh37: 11:59609972-59609972
GRCh38: 11:59842499-59842499
10 CBLIF NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser) SNV Conflicting interpretations of pathogenicity 305032 rs150926439 GRCh37: 11:59603444-59603444
GRCh38: 11:59835971-59835971
11 CBLIF NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn) SNV Conflicting interpretations of pathogenicity 305044 rs144916324 GRCh37: 11:59611454-59611454
GRCh38: 11:59843981-59843981
12 CBLIF NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg) SNV Uncertain significance 660115 rs138504371 GRCh37: 11:59604689-59604689
GRCh38: 11:59837216-59837216
13 CBLIF NM_005142.3(CBLIF):c.1064C>G (p.Pro355Arg) SNV Uncertain significance 1005545 GRCh37: 11:59603290-59603290
GRCh38: 11:59835817-59835817
14 CBLIF NM_005142.3(CBLIF):c.1190A>T (p.Glu397Val) SNV Uncertain significance 1008760 GRCh37: 11:59599153-59599153
GRCh38: 11:59831680-59831680
15 CBLIF NM_005142.3(CBLIF):c.1130C>T (p.Ala377Val) SNV Uncertain significance 971205 GRCh37: 11:59599213-59599213
GRCh38: 11:59831740-59831740
16 CBLIF NM_005142.3(CBLIF):c.446C>A (p.Ala149Glu) SNV Uncertain significance 1038547 GRCh37: 11:59609981-59609981
GRCh38: 11:59842508-59842508
17 CBLIF NM_005142.3(CBLIF):c.754A>T (p.Met252Leu) SNV Uncertain significance 1040504 GRCh37: 11:59604764-59604764
GRCh38: 11:59837291-59837291
18 CBLIF NM_005142.3(CBLIF):c.138G>A (p.Ser46=) SNV Uncertain significance 761936 rs200472519 GRCh37: 11:59611470-59611470
GRCh38: 11:59843997-59843997
19 CBLIF NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro) SNV Uncertain significance 877195 GRCh37: 11:59612901-59612901
GRCh38: 11:59845428-59845428
20 CBLIF NM_005142.3(CBLIF):c.*87G>A SNV Uncertain significance 878166 GRCh37: 11:59596870-59596870
GRCh38: 11:59829397-59829397
21 CBLIF NM_005142.3(CBLIF):c.1180C>T (p.Pro394Ser) SNV Uncertain significance 878167 GRCh37: 11:59599163-59599163
GRCh38: 11:59831690-59831690
22 CBLIF NM_005142.3(CBLIF):c.1074-3T>C SNV Uncertain significance 800190 rs370833765 GRCh37: 11:59599272-59599272
GRCh38: 11:59831799-59831799
23 CBLIF NM_005142.3(CBLIF):c.1074-14A>G SNV Uncertain significance 879624 GRCh37: 11:59599283-59599283
GRCh38: 11:59831810-59831810
24 CBLIF NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys) SNV Uncertain significance 879625 GRCh37: 11:59608735-59608735
GRCh38: 11:59841262-59841262
25 CBLIF NM_005142.3(CBLIF):c.256+10C>T SNV Uncertain significance 719724 rs369960390 GRCh37: 11:59611342-59611342
GRCh38: 11:59843869-59843869
26 CBLIF NM_005142.3(CBLIF):c.239T>C (p.Met80Thr) SNV Uncertain significance 879991 GRCh37: 11:59611369-59611369
GRCh38: 11:59843896-59843896
27 CBLIF NM_005142.3(CBLIF):c.778G>C (p.Gly260Arg) SNV Uncertain significance 948439 GRCh37: 11:59604740-59604740
GRCh38: 11:59837267-59837267
28 CBLIF NM_005142.3(CBLIF):c.82G>A (p.Val28Ile) SNV Uncertain significance 945698 GRCh37: 11:59611526-59611526
GRCh38: 11:59844053-59844053
29 CBLIF NM_005142.3(CBLIF):c.1055G>A (p.Arg352His) SNV Uncertain significance 955587 GRCh37: 11:59603299-59603299
GRCh38: 11:59835826-59835826
30 CBLIF NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn) SNV Uncertain significance 305034 rs886048403 GRCh37: 11:59604684-59604684
GRCh38: 11:59837211-59837211
31 CBLIF NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg) SNV Uncertain significance 305043 rs139444835 GRCh37: 11:59611390-59611390
GRCh38: 11:59843917-59843917
32 CBLIF NM_005142.3(CBLIF):c.524T>C (p.Met175Thr) SNV Uncertain significance 305036 rs886048404 GRCh37: 11:59608785-59608785
GRCh38: 11:59841312-59841312
33 CBLIF NM_005142.3(CBLIF):c.371-15C>T SNV Uncertain significance 305039 rs759810252 GRCh37: 11:59610071-59610071
GRCh38: 11:59842598-59842598
34 CBLIF NM_005142.3(CBLIF):c.1221C>G (p.His407Gln) SNV Uncertain significance 573386 rs148989677 GRCh37: 11:59596990-59596990
GRCh38: 11:59829517-59829517
35 CBLIF NM_005142.3(CBLIF):c.1163T>C (p.Phe388Ser) SNV Uncertain significance 574163 rs767310648 GRCh37: 11:59599180-59599180
GRCh38: 11:59831707-59831707
36 CBLIF NM_005142.3(CBLIF):c.1181del (p.Pro394fs) Deletion Uncertain significance 581451 rs1565206584 GRCh37: 11:59599162-59599162
GRCh38: 11:59831689-59831689
37 CBLIF NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter) SNV Uncertain significance 632162 rs1565210437 GRCh37: 11:59611376-59611376
GRCh38: 11:59843903-59843903
38 CBLIF NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg) SNV Uncertain significance 660502 rs200856492 GRCh37: 11:59609945-59609945
GRCh38: 11:59842472-59842472
39 CBLIF NM_005142.3(CBLIF):c.*56T>G SNV Uncertain significance 305029 rs886048401 GRCh37: 11:59596901-59596901
GRCh38: 11:59829428-59829428
40 CBLIF NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr) SNV Uncertain significance 305038 rs760404861 GRCh37: 11:59610048-59610048
GRCh38: 11:59842575-59842575
41 CBLIF NM_005142.3(CBLIF):c.1107C>T (p.Val369=) SNV Uncertain significance 305030 rs537424617 GRCh37: 11:59599236-59599236
GRCh38: 11:59831763-59831763
42 CBLIF NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg) SNV Uncertain significance 305033 rs886048402 GRCh37: 11:59604664-59604664
GRCh38: 11:59837191-59837191
43 CBLIF NM_005142.3(CBLIF):c.79+3G>A SNV Uncertain significance 305045 rs146396839 GRCh37: 11:59612845-59612845
GRCh38: 11:59845372-59845372
44 CBLIF NM_005142.3(CBLIF):c.1221C>T (p.His407=) SNV Likely benign 750113 rs148989677 GRCh37: 11:59596990-59596990
GRCh38: 11:59829517-59829517
45 CBLIF NM_005142.3(CBLIF):c.381T>G (p.Ala127=) SNV Likely benign 762559 rs1590860111 GRCh37: 11:59610046-59610046
GRCh38: 11:59842573-59842573
46 CBLIF NM_005142.3(CBLIF):c.432_434GAA[1] (p.Lys145del) Microsatellite Likely benign 208192 rs770530971 GRCh37: 11:59609990-59609992
GRCh38: 11:59842517-59842519
47 CBLIF NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile) SNV Benign/Likely benign 788331 rs144070828 GRCh37: 11:59599205-59599205
GRCh38: 11:59831732-59831732
48 CBLIF NM_005142.3(CBLIF):c.247G>A (p.Asp83Asn) SNV Benign 305041 rs115964827 GRCh37: 11:59611361-59611361
GRCh38: 11:59843888-59843888
49 CBLIF NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser) SNV Benign 305035 rs35867471 GRCh37: 11:59604754-59604754
GRCh38: 11:59837281-59837281
50 CBLIF NM_005142.3(CBLIF):c.59C>T (p.Thr20Ile) SNV Benign 770216 rs759872025 GRCh37: 11:59612868-59612868
GRCh38: 11:59845395-59845395

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
12.37 TCN2 LRP2 CUBN CBLIF AMN
2
Show member pathways
12.24 CUBN BMP1 AMN ALB
3
Show member pathways
11.89 TCN2 LRP2 CUBN CBLIF ALB
4 11.77 F3 C1S C1R
5
Show member pathways
11.53 TCN2 CUBN CBLIF AMN
6 10.88 TCN2 CUBN CBLIF
7 10.25 TCN2 CUBN CBLIF AMN
8
Show member pathways
9.98 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 9.83 TCN2 LRP2 CUBN CBLIF AMN
2 apical plasma membrane GO:0016324 9.76 LRP2 CUBN CBLIF AMN
3 blood microparticle GO:0072562 9.65 C1S C1R ALB
4 lysosomal lumen GO:0043202 9.58 TCN2 CUBN CBLIF
5 extracellular region GO:0005576 9.56 TCN2 F3 CBLIF C1S C1R BMP1
6 apical part of cell GO:0045177 9.54 LRP2 CUBN AMN
7 clathrin-coated pit GO:0005905 9.5 LRP2 CUBN AMN
8 endocytic vesicle GO:0030139 9.43 LRP2 CUBN AMN
9 brush border membrane GO:0031526 9.33 LRP2 CUBN AMN
10 extracellular space GO:0005615 9.23 TCN2 F3 CBLIF C1S C1R BMP1

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 9.46 LRP2 CUBN AMN ALB
2 vitamin D metabolic process GO:0042359 9.37 LRP2 CUBN
3 high-density lipoprotein particle clearance GO:0034384 9.32 CUBN AMN
4 cobalt ion transport GO:0006824 9.26 TCN2 CBLIF
5 cobalamin metabolic process GO:0009235 9.26 TCN2 CUBN CBLIF AMN
6 cobalamin transport GO:0015889 8.92 TCN2 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 metal ion binding GO:0046872 9.76 TCN2 SMAD9 LRP2 CUBN CBL C1S
2 serine-type endopeptidase activity GO:0004252 9.43 F3 C1S C1R
3 calcium ion binding GO:0005509 9.43 LRP2 CUBN CBL C1S C1R BMP1
4 cobalamin binding GO:0031419 8.8 TCN2 CUBN CBLIF

Sources for Congenital Intrinsic Factor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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