ORPHA:35858
Imerslund-Gräsbeck syndrome
Synonyms: Familial megaloblastic anemia · Selective cobalamin malabsorption with proteinuria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Imerslund-Gräsbeck syndrome | Familial megaloblastic anemia · Selective cobalamin malabsorption with proteinuria |
| fr | Syndrome d'Imerslund-Gräsbeck | Anémie mégaloblastique congénitale · Maladie d'Imerslund · Syndrome de malabsorption sélective de la cobalamine-protéinurie |
| de | Imerslund-Gräsbeck-Syndrom | Cobalamin-Malabsorption, selektive mit Proteinurie · Megaloblasten-Anämie, familiäre |
| es | Síndrome de Imerslund-Gräsbeck | Anemia megaloblástica familiar · Malabsorción selectiva de cobalamina con proteinuria |
| it | Sindrome di Imerslund-Gräsbeck | Anemia megaloblastica familiare · Malassorbimento selettivo di cobalamina associato a proteinuria · Malattia di Gräsbeck-Imerslund |
| nl | Syndroom van Imerslund-Gräsbeck | Familiale megaloblastaire anemie · Familiale megaloblastische anemie · Selectieve malabsorptie van cobalamine met proteïnurie |
| pt | Anemia megaloblástica familiar | Doença de Imerslund-Gräsbeck |
| pl | Choroba Gräsbecka i Imerslunda | Rodzinna niedokrwistość megaloblastyczna · Selektywne złe wchłanianie kobalaminy z białkomoczem |
| cs | Nemoc Gräsbeckova-Imerslundové | Familiární megaloblastická anémie · Selektivní malabsorpce kobalaminu s proteinurií · Nemoc Gräsbeck-Imerslundové |
| uk | Синдром Імерслунда-Грасбека | Сімейна мегалобластична анемія · Селективна мальабсорбція кобаламіну з протеїнурією |
| zh | Imerslund-Grõsbeck综合征 | 选择性钴胺吸收不良伴蛋白尿 |
| tr | Imerslund-Grõsbeck sendromu | Ailesel megaloblastik anemi · Proteinüri ile seçici kobalamin malabsorpsiyonu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261100 | BTNT | validated | |
| OMIM | 618882 | BTNT | validated | |
| ICD-10 | D51.1 | NTBT | attributed | validated |
| ICD-11 | 3A01.Y | NTBT | index | validated |
| MONDO | 0009853 | E | validated | |
| MeSH | C538556 | E | validated | |
| UMLS | C4551825 | E | validated | |
| GARD | 7006 | 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 (4):
- 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 - ORPHA:104004Intestinal disease due to vitamin absorption anomaly
rare gastroenterological diseases; rare genetic diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AMN | Disease-causing germline mutation(s) in | Assessed | HGNC:14604 | ENSG00000166126 | 605799 | 14q32.32 | amnion associated transmembrane protein | 21750092[PMID]_26040326[PMID] |
| CUBN | Disease-causing germline mutation(s) in | Assessed | HGNC:2548 | ENSG00000107611 | 602997 | 10p13 | cubilin | 10080186[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Finland | Value and class | Validated | Pr Ralph GRÄSBECK[EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Norway | Value and class | Validated | Pr Ralph GRÄSBECK[EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | Pr Ralph GRÄSBECK[EXPERT]_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
30 annotations · validated 2021-09-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0410216 | Abnormal blood 5-methyltetrahydrofolate level | |
| HP:0100502 | Decreased circulating vitamin B12 concentration | |
| HP:0200118 | Malabsorption of Vitamin B12 | |
| Very frequent (99-80%) | ||
| HP:0004821 | Hypersegmentation of neutrophil nuclei | |
| HP:0001972 | Macrocytic anemia | |
| HP:0001889 | Megaloblastic anemia | |
| Frequent (79-30%) | ||
| HP:0020061 | Abnormal hemoglobin concentration | |
| HP:0004823 | Anisopoikilocytosis | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0032566 | Oval macrocytosis | |
| HP:0000980 | Pallor | |
| HP:0000093 | Proteinuria | |
| HP:0001923 | Reticulocytosis | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0030318 | Angular cheilitis | |
| HP:0002019 | Constipation | |
| HP:0031936 | Delayed ability to walk | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002376 | Developmental regression | |
| HP:0001508 | Failure to thrive | |
| HP:0000206 | Glossitis | |
| HP:0001252 | Hypotonia | |
| HP:0001876 | Pancytopenia | |
| HP:0004396 | Poor appetite | |
| HP:0001649 | Tachycardia | |
| HP:0001873 | Thrombocytopenia | |
| HP:0002013 | Vomiting | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0002721 | Immunodeficiency | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 33491342[PMID]_32412981[PMID]_24044590[PMID]_32613615[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35858
- This record as JSON: /data/d/35858.json