ORPHA:79284
Methylmalonic acidemia with homocystinuria type cblF
Synonyms: CblF defect · Cobalamin F defect · Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF · Lysosomal membrane cobalamin transporter deficiency · Methylmalonic aciduria with homocystinuria, type cblF
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
<i>cblF</i> type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Methylmalonic acidemia with homocystinuria type cblF | CblF defect · Cobalamin F defect · Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF · Lysosomal membrane cobalamin transporter deficiency · Methylmalonic aciduria with homocystinuria, type cblF |
| fr | Acidémie méthylmalonique avec homocystinurie type cblF | Acidurie méthylmalonique avec homocystinurie type cblF · Défaut de libération lysosomale de la vitamine B12 · Défaut de transport de la cobalamine à la membrane lysosomale · Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine type cblF · Déficit en cobalamine F |
| de | Methylmalonazidämie mit Homocystinurie Typ cbl F | CblF-Defekt · Cobalamin F-Defekt · Cobalamin-Transporter-Mangel der lysosomalen Membran · Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblF · Methylmalonazidurie mit Homocystinurie Typ cblF |
| es | Acidemia metilmalónica con homocistinuria tipo cblF | Aciduria metilmalónica con homocistinuria tipo cblF · Defecto CblF · Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina tipo cblF · Defecto de cobalamina F · Deficiencia del transportador de cobalamina de la membrana lisosomal |
| it | Acidemia metilmalonica con omocistinuria, tipo cblF | Aciduria metilmalonica con omocistinuria, tipo cblF · Deficit del trasportatore della cobalamina nella membrana lisosomiale · Deficit di CblF · Deficit di cobalamina F · Difetto combinato della sintesi dell'adenosilcobalamina e della metilcobalamina, tipo cblF |
| nl | Methylmalonacidurie met homocystinurie, type cblF | CblF-defect · Cobalamine F-defect · Gecombineerd defect in adenosylcobalamine- en methylcobalaminesynthese, type cblF · Lysosomaal membraan-cobalaminetransporterdeficiëntie · Methylmalonacidemie met homocystinurie, type cblF · Methylmalonzuuracidemie met homocystinurie, type cblF · Methylmalonzuuracidurie met homocystinurie, type cblF |
| pt | Acidúria metilmalónica com homocistinúria, tipo cblF | Défice de libertação lisossomal da vitamina B12 |
| pl | Kwasica metylomalonowa z homocystynurią typu cblF | Acyduria metylomalonowa z homocystynurią, type cblF · Defekt CblF · Defekt kobalaminy F · Niedobór lizosomalnego transportera błonowego kobalaminy · Złożony defekt syntezy adenozylkobalaminy i metylkobalaminy, typu cblF |
| cs | Methylmalonová acidémie s homocystinurií, typ cbIF | CbIF Defekt · Defekt kobalaminu F · Kombinovaný defekt syntézy adenosylkobalaminu a methylkobalaminu, typ cbIF · Methylmalonová acidurie s homocystinurií, typ cbIF · Deficit transportéru kobalaminu na lysozomální membráně |
| uk | Метилмалонова ацидемія з гомоцистинурією, тип cblF | Дефект CblF · Дефект кобаламіну F · Поєднаний дефект синтезу аденозилкобаламіну та метилкобаламіну, тип cblF · Дефіцит лізосомального мембранного транспортера кобаламіну · Метилмалоновий ацидоз з гомоцистинурією, тип cblF |
| zh | 甲基丙二酸血症伴同型半胱氨酸尿症cbIF型 | 腺苷钴胺素和甲基钴胺素合成联合缺陷，cbIF型 |
| tr | Homosistinüri ile seyreden metilmalonik asidemi, tip cblF | CblF defekti · Kobalamin F defekti · Lizozomal membran kobalamin taşıyıcı eksikliği · Homosistinüri ile seyreden metilmalonik asidüri, tip cblF · Adenosilkobalamin ve metilkobalamin sentezinde kombine defekt, cblF tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277380 | E | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0010183 | E | validated | |
| MeSH | C564747 | E | validated | |
| UMLS | C1848578 | 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 (1):
- ORPHA:26Methylmalonic acidemia with homocystinuria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hematological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMBRD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:23038 | ENSG00000168216 | 612625 | 6q13 | LMBR1 domain containing 1 | 20301503[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 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.
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HPO phenotypes
28 annotations · validated 2020-11-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003145 | Decreased adenosylcobalamin | |
| HP:0100502 | Decreased circulating vitamin B12 concentration | |
| HP:0003223 | Decreased methylcobalamin | |
| HP:0031544 | Elevated propionylcarnitine level | |
| HP:0002160 | Hyperhomocystinemia | |
| HP:0001889 | Megaloblastic anemia | |
| HP:0012120 | Methylmalonic aciduria | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001254 | Lethargy | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0002719 | Recurrent infections | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0000206 | Glossitis | |
| HP:0030746 | Intraventricular hemorrhage | |
| HP:0006571 | Reduced number of intrahepatic bile ducts | |
| HP:0000988 | Skin rash | |
| HP:0010280 | Stomatitis | |
| HP:0000122 | Unilateral renal agenesis | |
| Excluded (0%) | ||
| HP:0003658 | Hypomethioninemia | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 21910240[PMID]_20301503[PMID]_21910240[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79284
- This record as JSON: /data/d/79284.json