ORPHA:2169
Methylcobalamin deficiency type cblE
Synonyms: Functional methionine synthase deficiency type cblE
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
This disease is described under Homocystinuria without methylmalonic aciduria
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Methylcobalamin deficiency type cblE | Functional methionine synthase deficiency type cblE |
| fr | Déficit en méthylcobalamine type cblE | Déficit fonctionnel en méthionine synthase type cblE |
| de | Methylcobalamin-Mangel Typ cbl E | Methionin-Synthase-Mangel Typ cblE, funktionaler |
| es | Deficiencia de metilcobalamina tipo cbl E | Deficiencia funcional de metionina sintasa tipo cblE |
| it | Deficit di metilcobalamina, tipo cblE | Deficit funzionale di metionina sintasi, tipo cblE |
| nl | Methylcobalaminedeficiëntie type cblE | Functionele methioninesynthasedeficiëntie type cblE |
| pt | Deficiência de metilcobalamina tipo cblE | Homocistinúria por defeito na metilação tipo cblE |
| pl | Niedobór metylokobalaminy typu cblE | Funkcjonalny Niedobór syntazy metioniny typu cblE |
| cs | Deficit methylkobalaminu, typ cbIE | Deficit methioninsyntázy reduktázy, typ cblE |
| uk | Дефіцит метилкобаламіну, тип cblE | Функціональна недостатність метіонінсинтетази типу cblE |
| zh | 甲基钴胺素缺陷，cblE型 | 功能性蛋氨酸合成酶缺乏cbIE型 |
| tr | Metilkobalamin eksikliği, cblE tipi | Fonksiyonel metiyonin sentaz eksikliği tip cblE |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236270 | E | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| MONDO | 0009354 | E | validated | |
| MeSH | C565510 | E | validated | |
| UMLS | C1856057 | 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 (2):
- ORPHA:622Homocystinuria without methylmalonic aciduria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hematological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| MTRR | Disease-causing germline mutation(s) in | Assessed | HGNC:7473 | ENSG00000124275 | 602568 | 5p15.31 | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase | 20301503[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 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
50 annotations · validated 2020-01-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0002160 | Hyperhomocystinemia | |
| HP:0001980 | Megaloblastic bone marrow | |
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0100022 | Abnormality of movement | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000478 | Abnormality of the eye | |
| HP:0012444 | Brain atrophy | |
| HP:0002329 | Drowsiness | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0003658 | Hypomethioninemia | |
| HP:0001252 | Hypotonia | |
| HP:0005518 | Increased mean corpuscular volume | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0007185 | Loss of consciousness | |
| HP:0001972 | Macrocytic anemia | |
| HP:0000252 | Microcephaly | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0001392 | Abnormality of the liver | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000708 | Atypical behavior | |
| HP:0030084 | Clinodactyly | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0002625 | Deep venous thrombosis | |
| HP:0012448 | Delayed myelination | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0100820 | Glomerulopathy | |
| HP:0000365 | Hearing impairment | |
| HP:0005575 | Hemolytic-uremic syndrome | |
| HP:0000238 | Hydrocephalus | |
| HP:0000822 | Hypertension | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0001254 | Lethargy | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0000639 | Nystagmus | |
| HP:0000939 | Osteoporosis | |
| HP:0001876 | Pancytopenia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002650 | Scoliosis | |
| HP:0001159 | Syndactyly | |
| HP:0001907 | Thromboembolism | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000505 | Visual impairment | |
| HP:0012704 | Widened subarachnoid space | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 9427140[PMID]_20301503[PMID]_15714522[PMID]_25526710[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2169
- This record as JSON: /data/d/2169.json