ORPHA:658813
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
Synonyms: CIMAH · Combined immunodeficiency-megaloblastic anemia with or without hyperhomocysteinemia · Methylenetetrahydrofolate dehydrogenase 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency | CIMAH · Combined immunodeficiency-megaloblastic anemia with or without hyperhomocysteinemia · Methylenetetrahydrofolate dehydrogenase 1 deficiency |
| fr | Déficit immunitaire combiné-anémie mégaloblastique par déficit en méthylènetétrahydrofolate déshydrogénase 1 | Déficit en méthylènetétrahydrofolate déhydrogénase 1 · Déficit immunitaire combiné et anémie mégaloblastique avec ou sans hyperhomocystéinémie |
| de | Kombinierter Immundefekt mit megaloblastischer Anämie durch Methylentetrahydrofolat-Dehydrogenase-1-Mangel | CIMAH · Kombinierte Immundefizienz-megaloblastische Anämie mit oder ohne Hyperhomocysteinämie · Methylentetrahydrofolat-Dehydrogenase-1-Mangel |
| es | Inmunodeficiencia combinada-anemia megaloblástica por deficiencia de metilentetrahidrofolato deshidrogenasa 1 | CIMAH · Deficiencia de metilentetrahidrofolato deshidrogenasa 1 · Inmunodeficiencia combinada-anemia megaloblástica con o sin hiperhomocisteinemia |
| it | Immunodeficienza combinata-anemia megaloblastica da deficit di metilenetetraidrofolato deidrogenasi 1 | CIMAH · Deficit di metilenetetraidrofolato deidrogenasi 1 · Immunodeficienza combinata-anemia megaloblastica con o senza iperomocisteinemia |
| nl | Gecombineerde immuundeficiëntie - megaloblastische anemie door deficiëntie van methyleentetrahydrofolaat-dehydrogenase 1 | CIMAH · Deficiëntie van methyleentetrahydrofolaat-dehydrogenase 1 · Gecombineerde immuundeficiëntie - megaloblastaire anemie door deficiëntie van methyleentetrahydrofolaat-dehydrogenase 1 · Gecombineerde immuundeficiëntie - megaloblastaire anemie met of zonder hyperhomocysteïnemie |
| pt | Imunodeficiência combinada-anemia megaloblástica por deficiência de metilenotetrahidrofolato desidrogenase 1 | CIMAH · Deficiência de metilenotetrahidrofolato desidrogenase 1 · Imunodeficiência combinada-anemia megaloblástica com ou sem hiperhomocisteinemia |
| pl | Niedobór dehydrogenazy metylenotetrahydrofolianowej 1 | Skojarzony niedobór odporności I anemia megaloblastyczna wskutek niedoboru dehydrogenazy metylenotetrahydrofolianu 1 |
| cs | Deficit metylentetrahydrofolátdehydrogenázy 1 | = en |
| uk | Комбінована імунодефіцитно-мегалобластна анемія, зумовлена дефіцитом метилентетрагідрофолатдегідрогенази 1 | CIMAH · Комбінована імунодефіцитно-мегалобластна анемія з гіпергомоцистеїнемією або без неї · Дефіцит метилентетрагідрофолатрегідрогенази 1 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617780 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C63.1 | NTBT | attributed | validated |
| MONDO | 0060611 | E | validated | |
| MONDO | 60611 | E | validated | |
| UMLS | C4540434 | 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 (2):
- 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
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTHFD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7432 | ENSG00000100714 | 172460 | 14q23.3 | methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | 21813566[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 21813566[PMID]_25633902[PMID]_27707659[PMID]_32414565[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 21813566[PMID]_25633902[PMID]_27707659[PMID]_32414565[PMID]_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
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/658813
- This record as JSON: /data/d/658813.json