ORPHA:395
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Synonyms: MTHFR deficiency · Methylene tetrahydrofolate reductase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | MTHFR deficiency · Methylene tetrahydrofolate reductase deficiency |
| fr | Homocystinurie par déficit en méthylène tétrahydrofolate réductase | Déficit en MTHFR · Déficit en méthylène tétrahydrofolate réductase |
| de | Homocystinurie durch Methylen-Tetrahydrofolat-Reduktase-Mangel | Hyperhomocysteinämie durch MTHFR-Mangel · MTHFR-Mangel · Methylen-Tetrahydrofolat-Reduktase-Mangel |
| es | Homocistinuria por deficiencia de metilentetrahidrofolato reductasa | |
| it | Omocistinuria da deficit di metilene-tetraidrofolato reduttasi | Deficit di MTHFR · Deficit di metilene-tetraidrofolato reduttasi |
| nl | Homocystinurie als gevolg van methyleentetrahydrofolaat reductasedeficiëntie | Homocystinurie als gevolg van MTHFR-deficiëntie · MTHFR-deficiëntie · Methyleentetrahydrofolaat reductasedeficiëntie |
| pt | Homocistinúria por deficiência de metilenotetraidrofolato redutase | Deficiência de MTHFR · Homocistinúria por deficiência de MTHFR |
| pl | Homocystynuria spowodowana niedoborem reduktazy metylenotetrahydrofolianu | Niedobór MTHFR · Niedobór reduktazy metylenotetrahydrofolianu |
| cs | Homocystinurie způsobená deficitem methylentetrahydrofolátreduktázy | Deficit MTHFR · Deficit methylentetrahydrofolátreduktázy |
| uk | Гомоцистинурія, зумовлена дефіцитом метилентетрагідрофолатредуктази | Дефіцит метилентетрагідрофолатредуктази · Дефіцит MTHFR |
| zh | 亚甲基四氢叶酸还原酶缺乏所致同型半胱氨酸尿症 | 亚甲基四氢叶酸还原酶缺乏症 |
| tr | Metilen tetrahidrofolat redüktaz eksikliğine bağlı homosistinüri | MTHFR eksikliği · Metilen tetrahidrofolat redüktaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236250 | E | validated | |
| ICD-10 | E72.1 | NTBT | inclusion | validated |
| ICD-11 | 5C63.1 | NTBT | index | validated |
| MONDO | 0009353 | E | validated | |
| MeSH | C537357 | E | validated | |
| UMLS | C1856061 | E | validated | |
| GARD | 2734 | E | validated | |
| MedDRA | 10070309 | 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 (4):
- ORPHA:285657Disorder of folate metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:225713Other metabolic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MTHFR | Disease-causing germline mutation(s) in | Assessed | HGNC:7436 | ENSG00000177000 | 607093 | 1p36.22 | methylenetetrahydrofolate reductase |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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 2020-03-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0000708 | Atypical behavior | |
| HP:0003286 | Cystathioninemia | |
| HP:0001288 | Gait disturbance | |
| HP:0002156 | Homocystinuria | |
| HP:0002160 | Hyperhomocystinemia | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002061 | Lower limb spasticity | |
| HP:0002011 | Morphological central nervous system abnormality | |
| HP:0002493 | Upper motor neuron dysfunction | |
| Frequent (79-30%) | ||
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0001251 | Ataxia | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0003658 | Hypomethioninemia | |
| HP:0001268 | Mental deterioration | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000725 | Psychotic episodes | |
| HP:0001250 | Seizure | |
| HP:0002313 | Spastic paraparesis | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0001977 | Abnormal thrombosis | |
| HP:0002104 | Apnea | |
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0012444 | Brain atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0002625 | Deep venous thrombosis | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0007359 | Focal-onset seizure | |
| HP:0008935 | Generalized neonatal hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0002315 | Headache | |
| HP:0001269 | Hemiparesis | |
| HP:0001249 | Intellectual disability | |
| HP:0001254 | Lethargy | |
| HP:0000709 | Psychosis | |
| HP:0001345 | Psychotic mentation | |
| HP:0001328 | Specific learning disability | |
| HP:0001727 | Thromboembolic stroke | |
| Very rare (<4-1%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0001298 | Encephalopathy | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0000238 | Hydrocephalus | |
| HP:0000252 | Microcephaly | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0001297 | Stroke | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 29246599[PMID]_26872964[PMID]_29391032[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/395
- This record as JSON: /data/d/395.json