ORPHA:99731
Isolated sulfite oxidase deficiency
Synonyms: ISOD · Sulfocysteinuria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Encephalopathy due to sulfite oxidase deficiency
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated sulfite oxidase deficiency | ISOD · Sulfocysteinuria |
| fr | Déficit isolé en sulfite oxydase | ISOD · Sulfocystinurie |
| de | Sulfitoxidase-Mangel, isolierter | Sulfocysteinurie · ISOD |
| es | Deficiencia aislada de sulfito oxidasa | ISOD · Sulfocisteinuria |
| it | Deficit isolato di solfito ossidasi | ISOD · Solfocistinuria |
| nl | Geïsoleerde sulfietoxidasedeficiëntie | ISOD · Sulfocysteïnurie |
| pt | Deficiência de sulfito oxidase isolada | |
| pl | Izolowany Niedobór oksydazy siarczynowej | = en |
| cs | Izolovaný deficit sulfit oxidázy | ISOD · Sulfocysteinurie |
| uk | Ізольований дефіцит сульфітоксидази | ISOD · Сульфоцистеїнурія |
| zh | 孤立型亚硫酸盐氧化酶缺乏 | 硫代半胱氨酸尿症 |
| tr | İzole sülfit oksidaz eksikliği | ISOD · Sülfosisteinüri |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 272300 | E | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| MONDO | 0010089 | E | validated | |
| MeSH | C538141 | E | validated | |
| GARD | 5062 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:833Encephalopathy due to sulfite oxidase deficiency
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SUOX | Disease-causing germline mutation(s) in | Assessed | HGNC:11460 | ENSG00000139531 | 606887 | 12q13.2 | sulfite oxidase |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 28933809[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28933809[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99731
- This record as JSON: /data/d/99731.json