ORPHA:319651
Constitutional megaloblastic anemia with severe neurologic disease
Synonyms: DHFR deficiency · Dihydrofolate reductase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Constitutional megaloblastic anemia with severe neurologic disease | DHFR deficiency · Dihydrofolate reductase deficiency |
| fr | Anémie mégaloblastique constitutionnelle avec neuropathie sévère | Déficit en DHFR · Déficit en dihydrofolate réductase |
| de | Konstitutionelle megaloblastäre Anämie mit schwerer neurologischer Krankheit | DHFR-Mangel · Dihydrofolat-Reduktase-Mangel |
| es | Anemia megaloblástica constitucional con enfermedad neurológica grave | Deficiencia de DHFR · Deficiencia de dihidrofolato reductasa |
| it | Anemia megaloblastica costituzionale con malattia neurologica grave | Deficit di DHFR · Deficit di diidrofolato reduttasi |
| nl | Constitutionele megaloblastische anemie met ernstige neurologische ziekte | DHFR-deficiëntie · Dihydrofolaat reductase-deficiëntie |
| pt | Anemia constitucional megaloblástica com doença neurológica grave | |
| pl | Megaloblastyczna niedokrwistość konstytucjonalna z ciężką chorobą neurologiczną | Niedobór DHFR · Niedobór reduktazy dihydrofolianowej |
| cs | Konstituční megaloblastická anémie s těžkým neurologickým onemocněním | DHFR deficit · Deficit dihydrofolát reduktázy |
| uk | Конституціональна мегалобластична анемія з важким неврологічним захворюванням | Дефіцит DHFR · Дефіцит дигідрофолатредуктази |
| zh | 二氢叶酸还原酶缺乏所致巨幼细胞性贫血 | 二氢叶酸还原酶缺陷 |
| tr | Ağır nörolojik hastalık ile seyreden yapısal megaloblastik anemi | DHFR eksikliği · Dihidrofolat redüktaz eksikliği |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613839 | E | validated | |
| ICD-10 | D52.8 | NTBT | attributed | validated |
| ICD-11 | 3A02.Y | NTBT | index | validated |
| MONDO | 0013456 | E | validated | |
| MeSH | C565095 | E | validated | |
| UMLS | C3151205 | E | validated | |
| GARD | 11000 | 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 (4):
- 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:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:225713Other metabolic disease with epilepsy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DHFR | Disease-causing germline mutation(s) in | Assessed | HGNC:2861 | ENSG00000228716 | 126060 | 5q14.1 | dihydrofolate reductase | 21310276[PMID]_21310277[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 21310276[PMID]_21310277[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21310276[PMID]_21310277[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319651
- This record as JSON: /data/d/319651.json