INTRINSIC FACTOR DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR
IFD
Number of Symptoms 18
OrphanetNr:
OMIM Id: 261000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003474) Sensory impairment 54 / 7739
2
(HPO:0003401) Paresthesia 42 / 7739
3
(HPO:0009830) Peripheral neuropathy 206 / 7739
4
(HPO:0002024) Malabsorption 142 / 7739
5
(HPO:0005219) Absence of intrinsic factor 3 / 7739
6
(HPO:0005518) Erythrocyte macrocytosis 13 / 7739
7
(HPO:0200143) Megaloblastic erythroid hyperplasia 1 / 7739
8
(HPO:0001889) Megaloblastic anemia 28 / 7739
9
(HPO:0200118) Malabsorption of Vitamin B12 3 / 7739
10
(HPO:0002715) Abnormality of the immune system 46 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Normal gastric mucosa 1 / 7739
13
(OMIM) Absence of auto-antibodies to intrinsic factor or parietal cells 1 / 7739
14
(HPO:0003621) Juvenile onset 105 / 7739
15
(OMIM) Decreased serum B12 levels 1 / 7739
16
(OMIM) Absence of intrinsic factor by immunoassay of gastric juices 1 / 7739
17
(OMIM) Normal gastric acid secretion 1 / 7739
18
(OMIM) Normal pepsin secretion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Cases of childhood pernicious anemia have been reported in which, although the gastric mucosa was histologically normal, intrinsic factor was lacking from the acid gastric juice. No antibodies to intrinsic factor or to gastric parietal cells were detected ...
Molecular genetics OMIM Hewitt et al. (1991) found that Southern analysis of genomic GIF DNA from patients with congenital pernicious anemia due to lack of intrinsic factor showed normal restriction fragment patterns, suggesting that a sizeable gene deletion is not responsible ...