Sulfite oxidase deficiency, isolated

Preferred Label : Sulfite oxidase deficiency, isolated;

Symbol : ISOD;

CISMeF acronym : ISOD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SULFOCYSTEINURIA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sulfite oxidase gene (SUOX, 606887.0001);

Laboratory abnormalities : Decreased sulfite oxidase activity in fibroblasts; Increased urinary sulfite; Decreased urinary sulfate;

Prefixed ID : #272300;

Details

Origin ID

272300;

UMLS CUI

C0268624;

Automatic exact mappings (from CISMeF team)
- Encephalopathy due to sulfite oxidase deficiency [ORDO Disease]
- Sulfocysteinuria [HPO term]
- isodent [MeSH Supplementary Concept]
- isodent [MeSH concept]
- isolated sulfite oxidase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Isolated sulfite oxidase deficiency [ICD-11 More detail]
- Isolated sulfite oxidase deficiency [ORDO Disease]
- Sulfite oxidase deficiency [HPO term]
- Sulfite oxidase deficiency [MeSH concept]
- Sulfite oxidase deficiency (disorder) [SNOMED CT concept]
- Sulfite oxidase deficiency syndrome (disorder) [SNOMED CT concept]
- Sulfocysteinuria [MeSH concept]
- sulfite oxidase deficiency [MeSH Supplementary Concept]
DO Cross reference
- isolated sulfite oxidase deficiency [DO Concept]
Genes related to phenotype
- Sulfite oxidase [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Agitation [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Choreoathetosis [HPO term]
- Death in infancy [HPO term]
- Decreased urinary sulfate [HPO term]
- Deeply set eye [HPO term]
- Delayed eruption of teeth [HPO term]
- Dyskinesia [HPO term]
- Ectopia lentis [HPO term]
- Eczema [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Episodic vomiting [HPO term]
- Fine hair [HPO term]
- Generalized dystonia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hemiplegia [HPO term]
- Hyperintensity of cerebral white matter on MRI [HPO term]
- Hypertonia [HPO term]
- Increased urinary sulfite [HPO term]
- Infantile muscular hypotonia [HPO term]
- Intellectual disability, severe [HPO term]
- Macrotia [HPO term]
- Metabolic acidosis [HPO term]
- Microcephaly [HPO term]
- Multifocal epileptiform discharges [HPO term]
- Narrow forehead [HPO term]
- Neonatal onset [HPO term]
- Sulfite oxidase deficiency [HPO term]
- Sulfocysteinuria [HPO term]
ORDO concept(s)
- Encephalopathy due to sulfite oxidase deficiency [ORDO Disease]
- Isolated sulfite oxidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated sulfite oxidase deficiency [ICD-11 More detail]
- Sulfite oxidase deficiency [MeSH concept]
- Sulfite oxidase deficiency [HPO term]
- Sulfite oxidase deficiency (disorder) [SNOMED CT concept]
- Sulfite oxidase deficiency syndrome (disorder) [SNOMED CT concept]
- Sulfocysteinuria [MeSH concept]
- Sulfocysteinuria [HPO term]
- sulfite oxidase deficiency [MeSH Supplementary Concept]
- sulfite oxidase deficiency [Disease (Nov.)]
- sulfite oxidase deficiency syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- sulfite oxidase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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