ORPHA:369955
Methylmalonic acidemia with homocystinuria, type cblJ
Synonyms: CblJ defects · Cobalamin J defect · Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ · Methylmalonic aciduria with homocystinuria, type cblJ
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Methylmalonic acidemia with homocystinuria
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Methylmalonic acidemia with homocystinuria, type cblJ | CblJ defects · Cobalamin J defect · Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ · Methylmalonic aciduria with homocystinuria, type cblJ |
| fr | Acidémie méthylmalonique avec homocystinurie type cblJ | Acidurie méthylmalonique avec homocystinurie type cblJ · Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine type cblJ · Déficit en cblJ · Déficit en cobalamine J |
| de | Methylmalonazidämie mit Homocystinurie Typ cblJ | CblJ-Defekte · Cobalamin J-Defekt · Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblJ · Methylmalonazidurie mit Homocystinurie Typ cblJ |
| es | Acidemia metilmalónica con homocistinuria tipo cblJ | Aciduria metilmalónica con homocistinuria tipo cblJ · Defecto CblJ · Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina tipo cblJ · Defecto de cobalamina J |
| it | Acidemia metilmalonica con omocistinuria, tipo cblJ | Aciduria metilmalonica con omocistinuria, tipo cblJ · Deficit di CblJ · Deficit di cobalamina J · Difetto combinato della sintesi dell'adenosilcobalamina e metilcobalamina, tipo cblJ |
| nl | Methylmalonacidurie met homocystinurie, type cblJ | CblJ-defecten · Cobalamine J-defect · Gecombineerd defect in adenosylcobalamine- en methylcobalaminesynthese type cblJ · Methylmalonacidemie met homocystinurie type cblJ |
| pt | Acidemia metilmalónica com homocistinúria, tipo cbIJ | |
| pl | Kwasica metylomalonowa z homocystynurią, typu cblJ | Acyduria metylomalonowa z homocystynurią, typu cblJ · Defekt CblJ · Defekt kobalaminy J · Złożony defekt syntezy adenozylokobalaminy i metylokobalaminy, typu cblJ |
| cs | Methylmalonová acidemie s homocystinurií, typ cbIJ | Poruchy CblJ · Porucha kobalaminu J · Kombinovaná porucha syntézy adenosylkobalaminu a methylkobalaminu, typ cblJ · Methylmalonová acidurie s homocystinurií, typ cblJ |
| uk | Метилмалонова ацидемія з гомоцистинурією, тип cblJ | Дефекти CblJ · Дефект кобаламіну J · Комбінований дефект синтезу аденозилкобаламіну та метилкобаламіну, тип cblJ · Метилмалонова ацидурія з гомоцистинурією, тип cblJ |
| zh | cbIJ型甲基丙二酸血症伴高胱氨酸尿症 | 腺苷钴胺素和甲基钴胺素合成结合缺陷cblJ型 |
| tr | Homosistinüri ile seyreden metilmalonik asidemi, tip cblJ | CblJ defekti · Kobalamin J defekti · Homosistinüri ile seyreden metilmalonik asidüri, tip cblJ · Adenosilkobalamin ve metilkobalamin sentezinde kombine defekt, tip cblJ |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614857 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | attributed | validated |
| MONDO | 0013925 | E | validated | |
| UMLS | C3553915 | 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 (1):
- ORPHA:26Methylmalonic acidemia with homocystinuria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hematological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCD4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:68 | ENSG00000119688 | 603214 | 14q24.3 | ATP binding cassette subfamily D member 4 | 22922874[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24011988[PMID]_22922874[PMID] | |
| 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
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369955
- This record as JSON: /data/d/369955.json