ORPHA:833
Encephalopathy due to sulfite oxidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Encephalopathy due to sulfite oxidase deficiency | |
| fr | Encéphalopathie par déficit en sulfite oxydase | |
| de | Enzephalopathie durch Sulfitoxidase-Mangel | |
| es | Encefalopatía por deficiencia de sulfito oxidasa | |
| it | Encefalopatia da deficit di solfito ossidasi | |
| nl | Encefalopathie door sulfietoxidasedeficiëntie | |
| pt | Encefalopatia devido à deficiência de sulfito oxidase | |
| pl | Encefalopatia spowodowana niedoborem oksydazy siarczynowej | |
| cs | Encefalopatie způsobená deficitem sulfitoxidázy | |
| uk | Енцефалопатія, зумовлена дефіцитом сульфітоксидази | |
| zh | 亚硫酸盐氧化酶缺乏所致脑病 | |
| tr | Sülfit oksidaz eksikliğine bağlı ensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252150 | BTNT | validated | |
| OMIM | 252160 | BTNT | validated | |
| OMIM | 272300 | BTNT | validated | |
| OMIM | 615501 | BTNT | validated | |
| ICD-10 | E72.1 | NTBT | inclusion | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| MONDO | 0019358 | E | validated | |
| UMLS | C4275019 | 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 (7):
- ORPHA:225689Amino acid or protein metabolism disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:139009Developmental anomaly of metabolic origin
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:79173Disorder of methionine cycle and sulfur amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:519292Syndromic ectopia lentis
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522554Syndromic genetic ectopia lentis
rare genetic diseases
4
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SUOX | ORPHA:99731Isolated sulfite oxidase deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:11460 | ENSG00000139531 | 606887 | 12q13.2 | sulfite oxidase |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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.
6
HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0100022 | Abnormality of movement | |
| HP:0003355 | Aminoaciduria | |
| HP:0001251 | Ataxia | |
| HP:0000490 | Deeply set eye | |
| HP:0002376 | Developmental regression | |
| HP:0001083 | Ectopia lentis | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000293 | Full cheeks | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000343 | Long philtrum | |
| HP:0000545 | Myopia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0011220 | Prominent forehead | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0001257 | Spasticity | |
| HP:0012471 | Thick vermilion border | |
| Frequent (79-30%) | ||
| HP:0000252 | Microcephaly | |
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/833
- This record as JSON: /data/d/833.json