Aicardi-Goutières syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Encephalopathy with basal ganglia calcification Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid |
| Number of Symptoms | 27 |
| OrphanetNr: | 51 |
| OMIM Id: |
114100
225750 610181 610329 610333 612952 615010 |
| ICD-10: |
G31.8 |
| UMLs: |
C0393591 |
| MeSH: |
C535607 |
| MedDRA: |
|
| Snomed: |
230312006 |
Prevalence, inheritance and age of onset:
| Prevalence: | 120 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Leukodystrophy
-Rare genetic disease -Rare neurologic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0001357) | Plagiocephaly | Occasional [Orphanet] | 106 / 7739 | |||
|
|
(HPO:0000268) | Dolichocephaly | 144 / 7739 | ||||
|
|
(HPO:0000625) | Cleft eyelid | Frequent [Orphanet] | 31 / 7739 | |||
|
|
(HPO:0000252) | Microcephaly | Occasional [Orphanet] | 832 / 7739 | |||
|
|
(HPO:0000508) | Ptosis | Occasional [Orphanet] | 459 / 7739 | |||
|
|
(HPO:0001257) | Spasticity | 251 / 7739 | ||||
|
|
(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
|
|
(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
|
|
(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
|
|
(HPO:0002071) | Abnormality of extrapyramidal motor function | 76 / 7739 | ||||
|
|
(HPO:0004374) | Hemiplegia/hemiparesis | Frequent [Orphanet] | 158 / 7739 | |||
|
|
(HPO:0002445) | Tetraplegia | 26 / 7739 | ||||
|
|
(HPO:0006887) | Intellectual disability, progressive | 68 / 7739 | ||||
|
|
(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
|
|
(HPO:0010864) | Intellectual disability, severe | 120 / 7739 | ||||
|
|
(HPO:0002135) | Basal ganglia calcification | 37 / 7739 | ||||
|
|
(HPO:0002461) | Dense calcifications in the cerebellar dentate nucleus | 4 / 7739 | ||||
|
|
(HPO:0003121) | Limb joint contracture | 8 / 7739 | ||||
|
|
(HPO:0002504) | Calcification of the small brain vessels | 2 / 7739 | ||||
|
|
(HPO:0004322) | Short stature | 1232 / 7739 | ||||
|
|
(HPO:0004325) | Decreased body weight | 492 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
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(HPO:0002132) | Porencephaly | Very frequent [Orphanet] | 18 / 7739 | |||
|
|
(HPO:0012443) | Abnormality of brain morphology | Very frequent [Orphanet] | 45 / 7739 | |||
|
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
|
(HPO:0003593) | Infantile onset | 249 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|