ORPHA:79283
Methylmalonic acidemia with homocystinuria, type cblD
Synonyms: CblD defect · Cobalamin D defect · Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD · Methylmalonic aciduria with homocystinuria, type cblD
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
<i>cblD</i> type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Methylmalonic acidemia with homocystinuria, type cblD | CblD defect · Cobalamin D defect · Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD · Methylmalonic aciduria with homocystinuria, type cblD |
| fr | Acidémie méthylmalonique avec homocystinurie type cblD | Acidurie méthylmalonique avec homocystinurie type cblD · Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine type cblD · Déficit en cblD · Déficit en cobalamine D |
| de | Methylmalonazidämie mit Homocystinurie Typ cbl D | CblD-Defekt · Cobalamin D-Defekt · Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblD · Methylmalonazidurie mit Homocystinurie Typ cblD |
| es | Acidemia metilmalónica con homocistinuria tipo cblD | Aciduria metilmalónica con homocistinuria tipo cblD · Defecto CblD · Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina tipo cblD · Defecto de cobalamina D |
| it | Acidemia metilmalonica con omocistinuria, tipo cblD | Aciduria metilmalonica con omocistinuria, tipo cblD · Deficit di CblD · Deficit di cobalamina D · Difetto combinato della sintesi dell'adenosilcobalamina e della metilcobalamina, tipo cblD |
| nl | Methylmalonacidurie met homocystinurie, type cblD | CblD-defect · Cobalamine D-defect · Gecombineerd defect in adenosylcobalamine- en methylcobalaminesynthese, type cblD · Methylmalonacidemie met homocystinurie, type cblD · Methylmalonzuuracidemie met homocystinurie, type cblD · Methylmalonzuuracidurie met homocystinurie, type cblD |
| pt | Acidemia metilmalónica com homocistinúria, tipo cblD | Acidúria metilmalónica com homocistinúria tipo cblD |
| pl | Kwasica metylomalonowa z homocystynurią typu cblD | Acyduria metylomalonowa z homocystynurią, typu cblD · Defekt CblD · Defekt kobalaminy D · Złożony defekt syntezy adenozylkobalaminy i metylkobalaminy, typu cblD |
| cs | Methylmalonová acidémie s homocystinurií, typ cbID | CbID defekt · Defekt kobalaminu D · Kombinovaný defekt syntézy adenosylkobalaminu a methylkobalaminu, typ cbID · Methylmalonová acidurie s homocystinurií, typ cbID |
| uk | Метилмалонова ацидемія з гомоцистинурією, тип cblD | Дефект CblD · Дефіцит кобаламіну D · Комбінований дефект синтезу аденозилкобаламіну та метилкобаламіну, тип cblD · Метилмалоновий ацидоз з гомоцистинурією, тип cblD |
| zh | 甲基丙二酸血症伴同型半胱氨酸尿症cbID型 | 腺苷钴胺素和甲基钴胺素合成联合缺陷，cbID型 |
| tr | Homosistinüri ile seyreden metilmalonik asidemi, tip cblD | CblD defekti · Kobalamin D defekti · Homosistinüri ile birlikte metilmalonik asidüri, tip cblD · Adenosilkobalamin ve metilkobalamin sentezinde kombine defekt, cblD tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277410 | E | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0010185 | E | validated | |
| MeSH | C564743 | E | validated | |
| UMLS | C1848552 | 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 |
|---|---|---|---|---|---|---|---|---|
| MMADHC | Disease-causing germline mutation(s) in | Assessed | HGNC:25221 | ENSG00000168288 | 611935 | 2q23.2 | metabolism of cobalamin associated D | 20301409[PMID]_20301503[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002039 | Anorexia | |
| HP:0000708 | Atypical behavior | |
| HP:0001508 | Failure to thrive | |
| HP:0012378 | Fatigue | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001254 | Lethargy | |
| HP:0001980 | Megaloblastic bone marrow | |
| HP:0000980 | Pallor | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79283
- This record as JSON: /data/d/79283.json