ORPHA:79282
Methylmalonic acidemia with homocystinuria, type cblC
Synonyms: CblC defect · Cobalamin C defect · Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC · Methylmalonic aciduria with homocystinuria, type cblC
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
<i>cblC</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 cblC | CblC defect · Cobalamin C defect · Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC · Methylmalonic aciduria with homocystinuria, type cblC |
| fr | Acidémie méthylmalonique avec homocystinurie type cblC | Acidurie méthylmalonique avec homocystinurie type cblC · Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine type cblC · Déficit en cblC · Déficit en cobalamine C |
| de | Methylmalonazidämie mit Homocystinurie Typ cbl C | CblC-Defekt · Cobalamin C-Defekt · Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblC · Methylmalonazidurie mit Homocystinurie Typ cblC |
| es | Acidemia metilmalónica con homocistinuria tipo cblC | Aciduria metilmalónica con homocistinuria tipo cblC · Defecto CblC · Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina tipo cblC · Defecto de cobalamina C |
| it | Acidemia metilmalonica con omocistinuria, tipo cblC | Deficit di cobalamina C · Difetto combinato della sintesi dell'adenosilcobalamina e della metilcobalamina, tipo cblC · Aciduria metilmalonica con omocistinuria, tipo cblC · Deficit di CblC |
| nl | Methylmalonacidurie met homocystinurie, type cblC | CblC-defect · Cobalamine C-defect · Gecombineerd defect in adenosylcobalamine- en methylcobalaminesynthese, type cblC · Methylmalonacidemie met homocystinurie, type cblC · Methylmalonzuuracidemie met homocystinurie, type cblC · Methylmalonzuuracidurie met homocystinurie, type cblC |
| pt | Acidemia metilmalónica com homocistinúria, tipo cblC | Acidúria metilmalónica e homocistinúria tipo cblC |
| pl | Kwasica metylomalonowa z homocystynurią typu cblC | Acyduria metylomalonowa z homocystynurią, typu cblC · Defekt CblC · Defekt kobalaminy C · Złożony defekt syntezy adenozylkobalaminy i metylkobalaminy, typu cblD |
| cs | Methylmalonová acidémie s homocystinurií, typ cbIC | CbIC defekt · Defekt kobalaminu C · Kombinovaný defekt syntézy adenosylkobalaminu a metylkobalaminu, typ cbIC · Metylmalonová acidurie s homocystinurií, typ cbIC |
| uk | Метилмалонова ацидемія з гомоцистинурією, тип cblC | Дефект CblC · Дефіцит кобаламіну С · Поєднаний дефект синтезу аденозилкобаламіну та метилкобаламіну, тип cblC · Метилмалоновий ацидоз з гомоцистинурією, тип cblC |
| zh | 甲基丙二酸血症伴同型半胱氨酸尿症cbIC型 | 腺苷钴胺素和甲基钴胺素合成联合缺陷，cbIC型 |
| tr | Homosistinüri ile seyreden metilmalonik asidemi, tip cblC | CblC defekti · Kobalamin C defekti · Homosistinüri ile birlikte metilmalonik asidüri, tip cblC · Adenosilkobalamin ve metilkobalamin sentezinde kombine defekt, tip cblC |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277400 | E | validated | |
| ICD-10 | D58.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0010184 | E | validated | |
| UMLS | C1848561 | 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 (5):
- ORPHA:576742Genetic hemolytic uremic syndrome
rare genetic diseases; rare hematological diseases - ORPHA:544458Hemolytic uremic syndrome
rare renal diseases; rare transplant-related disorders - ORPHA:26Methylmalonic acidemia with homocystinuria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hematological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MMACHC | Disease-causing germline mutation(s) in | Assessed | HGNC:24525 | ENSG00000132763 | 609831 | 1p34.1 | metabolism of cobalamin associated C | 16311595[PMID]_21497120[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 500 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | 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
76 annotations · validated 2020-11-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031544 | Elevated propionylcarnitine level | |
| HP:0002160 | Hyperhomocystinemia | |
| HP:0001249 | Intellectual disability | |
| HP:0001889 | Megaloblastic anemia | |
| HP:0002912 | Methylmalonic acidemia | |
| HP:0012120 | Methylmalonic aciduria | |
| Frequent (79-30%) | ||
| HP:0008002 | Abnormality of macular pigmentation | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0100820 | Glomerulopathy | |
| HP:0000206 | Glossitis | |
| HP:0001510 | Growth delay | |
| HP:0001116 | Macular coloboma | |
| HP:0000252 | Microcephaly | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0000546 | Retinal degeneration | |
| HP:0010280 | Stomatitis | |
| HP:0001873 | Thrombocytopenia | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001251 | Ataxia | |
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0000708 | Atypical behavior | |
| HP:0008765 | Auditory hallucinations | |
| HP:0002059 | Cerebral atrophy | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0002625 | Deep venous thrombosis | |
| HP:0001944 | Dehydration | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0001298 | Encephalopathy | |
| HP:0001789 | Hydrops fetalis | |
| HP:0001987 | Hyperammonemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0003658 | Hypomethioninemia | |
| HP:0002045 | Hypothermia | |
| HP:0001252 | Hypotonia | |
| HP:0033051 | Impaired executive functioning | |
| HP:0012469 | Infantile spasms | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000952 | Jaundice | |
| HP:0002919 | Ketonuria | |
| HP:0001254 | Lethargy | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0002354 | Memory impairment | |
| HP:0001268 | Mental deterioration | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0011096 | Peripheral demyelination | |
| HP:0030891 | Periventricular white matter hyperintensities | |
| HP:0000751 | Personality changes | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0000083 | Renal insufficiency | |
| HP:0002098 | Respiratory distress | |
| HP:0001250 | Seizure | |
| HP:0100309 | Subdural hemorrhage | |
| HP:0001907 | Thromboembolism | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0031258 | Delirium | |
| HP:0000726 | Dementia | |
| HP:0002376 | Developmental regression | |
| HP:0005575 | Hemolytic-uremic syndrome | |
| HP:0000348 | High forehead | |
| HP:0000238 | Hydrocephalus | |
| HP:0000276 | Long face | |
| HP:0000369 | Low-set ears | |
| HP:0001942 | Metabolic acidosis | |
| HP:0000709 | Psychosis | |
| HP:0002204 | Pulmonary embolism | |
| HP:0007258 | Severe demyelination of the white matter | |
| HP:0000319 | Smooth philtrum | |
| HP:0001297 | Stroke | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 28151490[PMID]_20301503[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79282
- This record as JSON: /data/d/79282.json