ORPHA:90045
Hereditary folate malabsorption
Synonyms: Congenital folate malabsorption
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary folate malabsorption | Congenital folate malabsorption |
| fr | Malabsorption héréditaire de l'acide folique | Malabsorption congénitale de l'acide folique · Malabsorption congénitale des folates · Malabsorption héréditaire des folates |
| de | Folat-Malabsorption, hereditäre | Folat-Malabsorption, kongenitale |
| es | Malabsorción hereditaria de folato | Malabsorción congénita de folato |
| it | Malassorbimento ereditario di folato | Malassorbimento congenito di folato |
| nl | Erfelijke malabsorptie van folaat | Congenitale malabsorptie van folaat |
| pt | Má absorção de folato hereditária | Má absorção de folato congénita |
| pl | Zespół złego wchłaniania kwasu foliowego | Wrodzone złe wchłanianie kwsau foliowego |
| cs | Dědičná malabsorpce folátu | Vrozená malabsorpce folátu |
| uk | Спадкова мальабсорбція фолатів | Вроджена мальабсорбція фолатів |
| zh | 遗传性叶酸吸收障碍 | 先天性叶酸盐吸收障碍 |
| tr | Kalıtsal folat emilim bozukluğu | Doğumsal folat emilim bozukluğu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 229050 | E | validated | |
| ICD-10 | E53.8 | NTBT | attributed | validated |
| ICD-11 | 5C63.1 | NTBT | index | validated |
| MONDO | 0009238 | E | validated | |
| MeSH | C562799 | E | validated | |
| UMLS | C0342705 | E | validated | |
| GARD | 12983 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:98408Constitutional megaloblastic anemia due to folate metabolism disorder
rare genetic diseases; rare hematological diseases - ORPHA:285657Disorder of folate 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC46A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:30521 | ENSG00000076351 | 611672 | 17q11.2 | solute carrier family 46 member 1 |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
6
HPO phenotypes
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002715 | Abnormality of the immune system | |
| HP:0002039 | Anorexia | |
| HP:0100825 | Cheilitis | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0002014 | Diarrhea | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0000206 | Glossitis | |
| HP:0001889 | Megaloblastic anemia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000980 | Pallor | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0002514 | Cerebral calcification | |
| HP:0001347 | Hyperreflexia | |
| HP:0002721 | Immunodeficiency | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0001876 | Pancytopenia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 25504888[PMID]_20301716[PMID]_11807405[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90045
- This record as JSON: /data/d/90045.json