ORPHA:332
Congenital intrinsic factor deficiency
Synonyms: Congenital pernicious anemia · Gastric intrinsic factor deficiency · Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency · IFD · Intrinsic factor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Childhood
- Status
- active
Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital intrinsic factor deficiency | Congenital pernicious anemia · Gastric intrinsic factor deficiency · Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency · IFD · Intrinsic factor deficiency |
| fr | Déficit congénital en facteur intrinsèque | Anémie héréditaire juvénile mégaloblastique due à une carence en facteur intrinsèque · Anémie pernicieuse congénitale · Déficit en facteur intrinsèque · Déficit en facteur intrinsèque gastrique · IFD |
| de | Intrinsic-Faktor-Mangel, kongenitaler | Anämie, juvenile megaloblastische, durch Intrinsic-Faktor-Mangel · Anämie, perzinöse, kongenitale · IFD · Intrinsic-Faktor-Mangel |
| es | Deficiencia congénita de factor intrínseco | Anemia megaloblástica hereditaria juvenil por deficiencia de factor intrínseco · Anemia perniciosa congénita · DFI · Deficiencia de factor intrínseco · Deficiencia de factor intrínseco gástrico |
| it | Deficit congenito del fattore intrinseco | Anemia megaloblastica giovanile ereditaria da deficit del fattore intrinseco · Anemia perniciosa congenita · Deficit del fattore intrinseco · Deficit gastrico del fattore intrinseco · IFD |
| nl | Congenitale deficiëntie van intrinsieke factor | Congenitale pernicieuze anemie · Deficiëntie van gastrische intrinsieke factor · Deficiëntie van intrinsieke factor · Erfelijke juveniele megaloblastaire anemie door deficiëntie van intrinsieke factor · Erfelijke juveniele megaloblastische anemie door deficiëntie van intrinsieke factor · IFD |
| pt | Deficiência de fator intrínseco congénita | Anemia megaloblástica juvenil hereditária por deficiência de fator intrínseco · Anemia perniciosa congénita · Deficiência de fator intrínseco · Deficiência de fator intrínseco gástrico · IFD |
| pl | Wrodzony Niedobór czynnika wewnętrznego | Dziedziczna młodzieńcza niedokrwistość megaloblastyczna z powodu niedoboru czynnika wewnętrznego · IFD · Niedobór czynnika wewnętrznego · Niedobór żołądkowego czynnika wewnętrznego · Wrodzona niedokrwistość złośliwa |
| cs | Vrozený deficit vnitřního faktoru | Vrozená perniciozní anémie · IFD · Deficit žaludečního vnitřního faktoru · Hereditární juvenilní megaloblastická anémie způsobená deficitem vnitřního faktoru · Deficit vnitřního faktoru |
| uk | Вроджений дефіцит внутрішнього фактора IF | Вроджена перніціозна анемія · Дефіцит внутрішнього шлункового фактора · Спадкова ювенільна мегалобластна анемія внаслідок дефіциту внутрішнього фактора · IFD · Дефіцит внутрішнього фактора |
| zh | 先天性内因子缺乏性贫血 | 内因子缺乏所致遗传性青少年性巨幼细胞性贫血 |
| tr | Doğumsal intrinsik eksikliği | IFD · İntrinsik faktör eksikliği · Doğumsal pernisiyöz anemi · Gastrik intrinsik faktör eksikliği · İntrinsik faktör eksikliğine bağlı kalıtsal jüvenil megaloblastik anemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243320 | BTNT | validated | |
| OMIM | 261000 | E | validated | |
| ICD-10 | D51.0 | NTBT | attributed | validated |
| ICD-11 | 3A01.0 | NTBT | index | validated |
| MONDO | 0009852 | E | validated | |
| MONDO | 9852 | E | validated | |
| MeSH | C563242 | E | validated | |
| UMLS | C1394891 | E | validated | |
| GARD | 3024 | E | validated | |
| MedDRA | 10070440 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98396Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
rare genetic diseases; rare hematological diseases - ORPHA:79171Disorder of cobalamin metabolism and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CBLIF | Disease-causing germline mutation(s) in | Assessed | HGNC:4268 | ENSG00000134812 | 609342 | 11q12.1 | cobalamin binding intrinsic factor | 14695536[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
17 annotations · validated 2025-06-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0005219 | Absence of intrinsic factor | |
| Very frequent (99-80%) | ||
| HP:0100502 | Decreased circulating vitamin B12 concentration | |
| HP:0001889 | Megaloblastic anemia | |
| Frequent (79-30%) | ||
| HP:0025406 | Asthenia | |
| HP:0000726 | Dementia | |
| HP:0002160 | Hyperhomocystinemia | |
| HP:0002912 | Methylmalonic acidemia | |
| HP:0002719 | Recurrent infections | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0001510 | Growth delay | |
| HP:0002315 | Headache | |
| HP:0200143 | Megaloblastic erythroid hyperplasia | |
| HP:0012120 | Methylmalonic aciduria | |
| HP:0003401 | Paresthesia | |
| HP:0009830 | Peripheral neuropathy | |
| Excluded (0%) | ||
| HP:6000344 | Anti-intrinsic factor antibody positivity | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 35458234[PMID]_22929189[PMID]_22929189[PMID]_18620679[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/332
- This record as JSON: /data/d/332.json