Isolated sulfite oxidase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SULFITE OXIDASE DEFICIENCY ISOD Sulfocysteinuria |
| Number of Symptoms | 26 |
| OrphanetNr: | 99731 |
| OMIM Id: |
272300
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| ICD-10: |
E72.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Encephalopathy due to sulfite oxidase deficiency
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0003359) | Decreased urinary sulfate | 2 / 7739 | ||||
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(HPO:0011942) | Increased urinary sulfite | 2 / 7739 | ||||
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(HPO:0000684) | Delayed eruption of teeth | 117 / 7739 | ||||
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(HPO:0001083) | Ectopia lentis | 45 / 7739 | ||||
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(HPO:0007325) | Generalized dystonia | 7 / 7739 | ||||
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(HPO:0001276) | Hypertonia | 317 / 7739 | ||||
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(HPO:0001266) | Choreoathetosis | 57 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0000713) | Agitation | 18 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0002301) | Hemiplegia | 42 / 7739 | ||||
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(HPO:0002213) | Fine hair | 77 / 7739 | ||||
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(HPO:0000964) | Eczema | 81 / 7739 | ||||
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(HPO:0003643) | Sulfite oxidase deficiency | 2 / 7739 | ||||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Decreased sulfite oxidase activity in fibroblasts | 1 / 7739 | ||||
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(OMIM) | Infantile hemiplegia | 1 / 7739 | ||||
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(HPO:0001522) | Death in infancy | 275 / 7739 | ||||
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(OMIM) | Delayed teething | 1 / 7739 | ||||
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(OMIM) | Restlessness, agitation, crying under stress | 1 / 7739 | ||||
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(OMIM) | Mild eczema | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Diagnosis OMIM | Wadman et al. (1983) called attention to a simple 'strip test' for sulfite in the urine and pointed to states giving false-positive or false-negative results. |
| Clinical Description OMIM |
In an infant with fatal neurologic disease and ectopia lentis, Mudd et al. (1967) found increased sulfite in the urine with markedly decreased inorganic sulfate excretion. A deficiency in the activity of sulfite oxidase, an enzyme that normally ... |
| Molecular genetics OMIM |
Kisker et al. (1997) characterized 4 missense mutations in the SUOX gene in cell lines from patients with isolated sulfite oxidase deficiency (606887.0001-606887.0004). Seidahmed et al. (2005) reported a male infant with isolated sulfite oxidase deficiency ... |