IFD
MCID: INT088
MIFTS: 34

Intrinsic Factor Deficiency (IFD)

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

Aliases & Classifications for Intrinsic Factor Deficiency

MalaCards integrated aliases for Intrinsic Factor Deficiency:

Name: Intrinsic Factor Deficiency 57 20 29 13 6 39 71
Ifd 57 20 73
Pernicious Anemia, Congenital, Due to Defect of Intrinsic Factor 57 20
Congenital Pernicious Anemia Due to Defect of Intrinsic Factor 20
Megaloblastic Anemia Due to Inborn Errors of Metabolism 71
Intrinsic Factor, Congenital Deficiency of 20
Congenital Deficiency of Intrinsic Factor 71
Congenital Intrinsic Factor Deficiency 20
Hereditary Intrinsic Factor Deficiency 73
Congenital Pernicious Anemia 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood


HPO:

31
intrinsic factor deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM® 57 261000
MedGen 41 C1394891
UMLS 71 C0340957 C1306856 C1394891

Summaries for Intrinsic Factor Deficiency

GARD : 20 Intrinsic factor deficiency is a rare condition that is characterized by pernicious anemia and neurological abnormalities. Most affected people develop signs and symptoms of the condition before age 5 years which may include failure to thrive and symptoms related to anemia (i.e. fatigue, pale skin, etc). Without early diagnosis and treatment, nervous system damage may occur which can be associated with confusion; depression; and numbness or tingling in the hands and/or feet. Intrinsic factor deficiency is caused by changes (mutations) in the GIF gene and is inherited in an autosomal recessive manner. Treatment generally consists of vitamin B12 injections.

MalaCards based summary : Intrinsic Factor Deficiency, also known as ifd, is related to pernicious anemia and congenital intrinsic factor deficiency. An important gene associated with Intrinsic Factor Deficiency is CBLIF (Cobalamin Binding Intrinsic Factor). Affiliated tissues include small intestine, bone marrow and bone, and related phenotypes are malabsorption and abnormality of the immune system

OMIM® : 57 Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100). (261000) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Hereditary intrinsic factor deficiency: Autosomal recessive disorder characterized by megaloblastic anemia.

Wikipedia : 74 Intrinsic factor (IF), also known as gastric intrinsic factor (GIF), is a glycoprotein produced by the... more...

Related Diseases for Intrinsic Factor Deficiency

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



Diseases related to Intrinsic Factor Deficiency

Symptoms & Phenotypes for Intrinsic Factor Deficiency

Human phenotypes related to Intrinsic Factor Deficiency:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 malabsorption 31 HP:0002024
2 abnormality of the immune system 31 HP:0002715
3 paresthesia 31 HP:0003401
4 abnormality of metabolism/homeostasis 31 HP:0001939
5 sensory impairment 31 HP:0003474
6 megaloblastic anemia 31 HP:0001889
7 increased mean corpuscular volume 31 HP:0005518
8 megaloblastic erythroid hyperplasia 31 HP:0200143
9 malabsorption of vitamin b12 31 HP:0200118
10 absence of intrinsic factor 31 HP:0005219

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Peripheral Nervous System:
peripheral neuropathy
sensory impairment
paresthesias

Abdomen Gastrointestinal:
vitamin b12 deficiency caused by intestinal malabsorption
absence of intrinsic factor by immunoassay of gastric juices
normal gastric mucosa
normal gastric acid secretion
normal pepsin secretion

Laboratory Abnormalities:
decreased serum b12 levels

Hematology:
megaloblastic anemia
increased mean corpuscular volume
bone marrow biopsy shows megaloblastic erythroid hyperplasia

Immunology:
absence of auto-antibodies to intrinsic factor or parietal cells

Clinical features from OMIM®:

261000 (Updated 05-Mar-2021)

Drugs & Therapeutics for Intrinsic Factor Deficiency

Search Clinical Trials , NIH Clinical Center for Intrinsic Factor Deficiency

Genetic Tests for Intrinsic Factor Deficiency

Genetic tests related to Intrinsic Factor Deficiency:

# Genetic test Affiliating Genes
1 Intrinsic Factor Deficiency 29 CBLIF

Anatomical Context for Intrinsic Factor Deficiency

MalaCards organs/tissues related to Intrinsic Factor Deficiency:

40
Small Intestine, Bone Marrow, Bone, Brain

Publications for Intrinsic Factor Deficiency

Articles related to Intrinsic Factor Deficiency:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency. 61 6 57
14576042 2004
2
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. 6 57
15738392 2005
3
A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. 57 61
14695536 2004
4
Congenital intrinsic factor deficiency in a Spanish patient. 61 57
1581408 1992
5
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 57
6823973 1983
6
The mouse homologs of human GIF, DDB1, and CFL1 genes are located on chromosome 19. 57
9530637 1998
7
Human gastric intrinsic factor: characterization of cDNA and genomic clones and localization to human chromosome 11. 57
2071148 1991
8
Cobalamin malabsorption in three siblings due to an abnormal intrinsic factor that is markedly susceptible to acid and proteolysis. 57
3908480 1985
9
Isolation and characterization of an abnormal human intrinsic factor. 57
4207620 1974
10
Vitamin B 12 malabsorption due to a biologically inert intrinsic factor. 57
5044916 1972
11
Congenital pernicious anemia: effects on growth, brain, and absorption of B12. 57
5657671 1968
12
Juvenile "congenital" pernicious anemia. Clinical and immunologic studies. 57
5922169 1966
13
PERNICIOUS ANEMIA IN CHILDHOOD. 57
14279251 1965
14
NOTES ON VITAMIN B12 ABSORPTION; AUTOIMMUNITY AND CHILDHOOD PERNICIOUS ANEMIA; RELATION OF INTRINSIC FACTOR TO BLOOD GROUP SUBSTANCE. 57
14226584 1964
15
Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene-a case report. 61
33172407 2020
16
Autoimmune Gastritis. 61
31661309 2019
17
Vitamin B12 Deficiency in a Patient Presenting with Dyspnea: A Case Report. 61
31172130 2019
18
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
19
Frequency of intrinsic factor antibody in megaloblastic anaemia. 61
24613108 2014
20
Vitamin B12 absorption: mammalian physiology and acquired and inherited disorders. 61
23178706 2013
21
Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant. 61
23402911 2013
22
Hereditary intrinsic factor deficiency in chaldeans. 61
23430489 2013
23
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption? 61
22854512 2012
24
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. 61
22929189 2012
25
Diagnosis and management of pernicious anemia. 61
21947876 2011
26
Inborn errors of cobalamin absorption and metabolism. 61
21312325 2011
27
Pernicious anemia: new insights from a gastroenterological point of view. 61
19891010 2009
28
[Oral better than parenteral supplementation of vitamin B12]. 61
19900336 2009
29
[Hereditary juvenile cobalamin deficiency due to mutations in GIF gene]. 61
18620679 2008
30
Acquired and inherited disorders of cobalamin and folate in children. 61
16846473 2006
31
Nonradioactive vitamin B12 absorption test evaluated in controls and in patients with inherited malabsorption of vitamin B12. 61
16166166 2005
32
[Vitamin B12 deficiency. New data on an old theme]. 61
16395986 2005
33
Case of megaloblastic anemia caused by intestinal taeniasis. 61
14730392 2004
34
[Atrophic gastritis presenting with pulmonary embolism]. 61
11341183 2000
35
Genetic defects of folate and cobalamin metabolism. 61
9587028 1998
36
Primary gastric lymphoma presenting with vitamin B12 deficiency and achlorhydria. 61
8946996 1996
37
[Dementia caused by bacterial overgrowth in a patient with Billroth II gastrectomy]. 61
8755325 1996
38
[Imerslund-Najman-Grasbeck anemia. Apropos of a case]. 61
8015868 1993
39
Bound vitamin B12 absorption in patients with low serum B12 levels. 61
1609768 1992
40
One-step chromogenic equivalent of activated partial thromboplastin time evaluated for clinical application. 61
1855296 1991
41
[Congenital intrinsic factor deficiency. Apropos of 3 cases in a sibship]. 61
3395196 1988
42
Incidence and clinical significance of protein-bound vitamin B12 malabsorption. 61
3595808 1987
43
Malabsorption of vitamin B12 and intrinsic factor secretion during biguanide therapy. 61
6825978 1983
44
[Influence of intrinsic factor deficiency on malabsorption of vitamin B12 bound to proteins in achlorhydria]. 61
7117768 1982
45
Intrinsic factor deficiency in adults with normal hydrochloric acid production. 61
7450447 1981
46
[Vitamins in metabolic diseases]. 61
7027768 1981
47
[Juvenile pernicious anemia with congenital intrinsic factor deficiency and intermediate intrinsic factor secretion in the parents]. 61
711491 1978
48
Vitamin B 12 malabsorption due to intrinsic factor deficiency in Indian subjects. 61
5078931 1972
49
Standardized annular assay of dual radioisotopes on a well type sodium iodide crystal. 61
5430423 1970
50
Simultaneous free and bound radioactive vitamin B-12 urinary excretion test. 61
5835443 1965

Variations for Intrinsic Factor Deficiency

ClinVar genetic disease variations for Intrinsic Factor Deficiency:

6 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CBLIF NM_005142.3(CBLIF):c.161del (p.Asn54fs) Deletion Pathogenic 1747 rs1590860794 11:59611447-59611447 11:59843974-59843974
2 CBLIF NM_005142.3(CBLIF):c.1175dup (p.Thr393fs) Duplication Pathogenic 1748 rs1590854624 11:59599167-59599168 11:59831694-59831695
3 CBLIF NM_005142.3(CBLIF):c.80-1G>A SNV Pathogenic 1745 rs1590860877 11:59611529-59611529 11:59844056-59844056
4 CBLIF NM_005142.3(CBLIF):c.183_186del (p.Met61fs) Deletion Pathogenic 566919 rs765896727 11:59611422-59611425 11:59843949-59843952
5 CBLIF NM_005142.3(CBLIF):c.79+1G>A SNV Pathogenic 439755 rs147785187 11:59612847-59612847 11:59845374-59845374
6 CBLIF NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg) SNV Likely pathogenic 830018 rs1590859406 11:59608648-59608648 11:59841175-59841175
7 CBLIF NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn) SNV Conflicting interpretations of pathogenicity 305044 rs144916324 11:59611454-59611454 11:59843981-59843981
8 CBLIF NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu) SNV Conflicting interpretations of pathogenicity 1746 rs121434322 11:59611471-59611471 11:59843998-59843998
9 CBLIF NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu) SNV Conflicting interpretations of pathogenicity 305037 rs148081315 11:59609972-59609972 11:59842499-59842499
10 CBLIF NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser) SNV Conflicting interpretations of pathogenicity 305032 rs150926439 11:59603444-59603444 11:59835971-59835971
11 CBLIF NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn) SNV Uncertain significance 305034 rs886048403 11:59604684-59604684 11:59837211-59837211
12 CBLIF NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg) SNV Uncertain significance 305043 rs139444835 11:59611390-59611390 11:59843917-59843917
13 CBLIF NM_005142.3(CBLIF):c.79+3G>A SNV Uncertain significance 305045 rs146396839 11:59612845-59612845 11:59845372-59845372
14 CBLIF NM_005142.3(CBLIF):c.524T>C (p.Met175Thr) SNV Uncertain significance 305036 rs886048404 11:59608785-59608785 11:59841312-59841312
15 CBLIF NM_005142.3(CBLIF):c.371-15C>T SNV Uncertain significance 305039 rs759810252 11:59610071-59610071 11:59842598-59842598
16 CBLIF NM_005142.3(CBLIF):c.*56T>G SNV Uncertain significance 305029 rs886048401 11:59596901-59596901 11:59829428-59829428
17 CBLIF NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr) SNV Uncertain significance 305038 rs760404861 11:59610048-59610048 11:59842575-59842575
18 CBLIF NM_005142.3(CBLIF):c.1107C>T (p.Val369=) SNV Uncertain significance 305030 rs537424617 11:59599236-59599236 11:59831763-59831763
19 CBLIF NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg) SNV Uncertain significance 305033 rs886048402 11:59604664-59604664 11:59837191-59837191
20 CBLIF NM_005142.3(CBLIF):c.1221C>G (p.His407Gln) SNV Uncertain significance 573386 rs148989677 11:59596990-59596990 11:59829517-59829517
21 CBLIF NM_005142.3(CBLIF):c.1163T>C (p.Phe388Ser) SNV Uncertain significance 574163 rs767310648 11:59599180-59599180 11:59831707-59831707
22 CBLIF NM_005142.3(CBLIF):c.1181del (p.Pro394fs) Deletion Uncertain significance 581451 rs1565206584 11:59599162-59599162 11:59831689-59831689
23 CBLIF NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter) SNV Uncertain significance 632162 rs1565210437 11:59611376-59611376 11:59843903-59843903
24 CBLIF NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg) SNV Uncertain significance 660115 rs138504371 11:59604689-59604689 11:59837216-59837216
25 CBLIF NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg) SNV Uncertain significance 660502 rs200856492 11:59609945-59609945 11:59842472-59842472
26 CBLIF NM_005142.3(CBLIF):c.138G>A (p.Ser46=) SNV Uncertain significance 761936 rs200472519 11:59611470-59611470 11:59843997-59843997
27 CBLIF NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro) SNV Uncertain significance 877195 11:59612901-59612901 11:59845428-59845428
28 CBLIF NM_005142.3(CBLIF):c.*87G>A SNV Uncertain significance 878166 11:59596870-59596870 11:59829397-59829397
29 CBLIF NM_005142.3(CBLIF):c.1180C>T (p.Pro394Ser) SNV Uncertain significance 878167 11:59599163-59599163 11:59831690-59831690
30 CBLIF NM_005142.3(CBLIF):c.1074-3T>C SNV Uncertain significance 800190 rs370833765 11:59599272-59599272 11:59831799-59831799
31 CBLIF NM_005142.3(CBLIF):c.1074-14A>G SNV Uncertain significance 879624 11:59599283-59599283 11:59831810-59831810
32 CBLIF NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys) SNV Uncertain significance 879625 11:59608735-59608735 11:59841262-59841262
33 CBLIF NM_005142.3(CBLIF):c.256+10C>T SNV Uncertain significance 719724 rs369960390 11:59611342-59611342 11:59843869-59843869
34 CBLIF NM_005142.3(CBLIF):c.239T>C (p.Met80Thr) SNV Uncertain significance 879991 11:59611369-59611369 11:59843896-59843896
35 CBLIF NM_005142.3(CBLIF):c.82G>A (p.Val28Ile) SNV Uncertain significance 945698 11:59611526-59611526 11:59844053-59844053
36 CBLIF NM_005142.3(CBLIF):c.778G>C (p.Gly260Arg) SNV Uncertain significance 948439 11:59604740-59604740 11:59837267-59837267
37 CBLIF NM_005142.3(CBLIF):c.1055G>A (p.Arg352His) SNV Uncertain significance 955587 11:59603299-59603299 11:59835826-59835826
38 CBLIF NM_005142.3(CBLIF):c.1130C>T (p.Ala377Val) SNV Uncertain significance 971205 11:59599213-59599213 11:59831740-59831740
39 CBLIF NM_005142.3(CBLIF):c.1221C>T (p.His407=) SNV Likely benign 750113 rs148989677 11:59596990-59596990 11:59829517-59829517
40 CBLIF NM_005142.3(CBLIF):c.381T>G (p.Ala127=) SNV Likely benign 762559 rs1590860111 11:59610046-59610046 11:59842573-59842573
41 CBLIF NM_005142.3(CBLIF):c.432_434GAA[1] (p.Lys145del) Microsatellite Likely benign 208192 rs770530971 11:59609990-59609992 11:59842517-59842519
42 CBLIF NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile) SNV Benign/Likely benign 788331 rs144070828 11:59599205-59599205 11:59831732-59831732
43 CBLIF NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser) SNV Benign 305035 rs35867471 11:59604754-59604754 11:59837281-59837281
44 CBLIF NM_005142.3(CBLIF):c.990C>T (p.Asn330=) SNV Benign 305031 rs2867802 11:59603364-59603364 11:59835891-59835891
45 CBLIF NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) SNV Benign 305040 rs150884181 11:59610581-59610581 11:59843108-59843108
46 CBLIF NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) SNV Benign 1742 rs35211634 11:59612859-59612859 11:59845386-59845386
47 CBLIF NM_005142.3(CBLIF):c.246C>T (p.Ser82=) SNV Benign 305042 rs35792306 11:59611362-59611362 11:59843889-59843889
48 CBLIF NM_005142.3(CBLIF):c.59C>T (p.Thr20Ile) SNV Benign 770216 rs759872025 11:59612868-59612868 11:59845395-59845395
49 CBLIF NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg) SNV Benign 618142 rs11825834 11:59611415-59611415 11:59843942-59843942
50 CBLIF NM_005142.3(CBLIF):c.247G>A (p.Asp83Asn) SNV Benign 305041 rs115964827 11:59611361-59611361 11:59843888-59843888

UniProtKB/Swiss-Prot genetic disease variations for Intrinsic Factor Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 CBLIF p.Ser46Leu VAR_022743 rs121434322

Expression for Intrinsic Factor Deficiency

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

Pathways for Intrinsic Factor Deficiency

GO Terms for Intrinsic Factor Deficiency

Sources for 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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