Congenital intrinsic factor deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
IFD Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency Gastric intrinsic factor deficiency Congenital pernicious anemia Intrinsic factor deficiency |
| Number of Symptoms | 6 |
| OrphanetNr: | 332 |
| OMIM Id: |
243320
261000 |
| ICD-10: |
D51.0 |
| UMLs: |
C0340957 |
| MeSH: |
|
| MedDRA: |
10070440 |
| Snomed: |
234361004 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
-Rare genetic disease -Rare hematologic disease Disorder of cobalamin metabolism and transport -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000707) | Abnormality of the nervous system | 61 / 7739 | ||||
|
|
(HPO:0005219) | Absence of intrinsic factor | 3 / 7739 | ||||
|
|
(HPO:0001510) | Growth delay | 295 / 7739 | ||||
|
|
(HPO:0001889) | Megaloblastic anemia | 28 / 7739 | ||||
|
|
(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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