Encephalopathy due to sulfite oxidase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 21 |
| OrphanetNr: | 833 |
| OMIM Id: |
252150
252160 272300 615501 |
| ICD-10: |
E72.1 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | > 100 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Antenatal Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Amino acid or protein metabolism disease with epilepsy
-Rare neurologic disease Developmental anomaly of metabolic origin -Rare developmental defect during embryogenesis -Rare genetic disease Disorder of methionine cycle and sulfur amino acid metabolism -Rare genetic disease -Rare neurologic disease Lens position anomaly -Rare eye disease -Rare genetic disease Neurometabolic disease -Rare genetic disease -Rare neurologic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
|
|
(HPO:0000490) | Deeply set eye | Very frequent [Orphanet] | 131 / 7739 | |||
|
|
(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
|
|
(HPO:0012471) | Thick vermilion border | Very frequent [Orphanet] | 115 / 7739 | |||
|
|
(HPO:0000343) | Long philtrum | Very frequent [Orphanet] | 262 / 7739 | |||
|
|
(HPO:0000293) | Full cheeks | Very frequent [Orphanet] | 85 / 7739 | |||
|
|
(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
|
|
(HPO:0000545) | Myopia | Very frequent [Orphanet] | 286 / 7739 | |||
|
|
(HPO:0001083) | Ectopia lentis | Very frequent [Orphanet] | 45 / 7739 | |||
|
|
(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
|
|
(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
|
|
(HPO:0002015) | Dysphagia | Very frequent [Orphanet] | 301 / 7739 | |||
|
|
(HPO:0004374) | Hemiplegia/hemiparesis | Very frequent [Orphanet] | 158 / 7739 | |||
|
|
(HPO:0100543) | Cognitive impairment | Very frequent [Orphanet] | 230 / 7739 | |||
|
|
(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
|
|
(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
|
|
(HPO:0002017) | Nausea and vomiting | Very frequent [Orphanet] | 134 / 7739 | |||
|
|
(HPO:0004337) | Abnormality of amino acid metabolism | Very frequent [Orphanet] | 45 / 7739 | |||
|
|
(HPO:0002793) | Abnormal pattern of respiration | Very frequent [Orphanet] | 26 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
|
(HPO:0001522) | Death in infancy | Very frequent [Orphanet] | 275 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|