AICARDI-GOUTIERES SYNDROME 7

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 22
OrphanetNr:
OMIM Id: 615846
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000100) Nephrotic syndrome rare [HPO:skoehler] 83 / 7739
2
 (HPO:0000252) Microcephaly rare [HPO:skoehler] 832 / 7739
3
 (HPO:0000496) Abnormality of eye movement rare [HPO:skoehler] 79 / 7739
4
 (HPO:0001332) Dystonia 197 / 7739
5
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
6
 (HPO:0001344) Absent speech 57 / 7739
7
 (HPO:0001285) Spastic tetraparesis 29 / 7739
8
 (HPO:0001263) Global developmental delay 853 / 7739
9
 (HPO:0000737) Irritability 93 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0002376) Developmental regression rare [HPO:skoehler] 74 / 7739
12
 (HPO:0002135) Basal ganglia calcification 37 / 7739
13
 (HPO:0002240) Hepatomegaly rare [HPO:skoehler] 467 / 7739
14
 (HPO:0011968) Feeding difficulties 240 / 7739
15
 (HPO:0001744) Splenomegaly rare [HPO:skoehler] 337 / 7739
16
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
17
 (HPO:0001047) Atopic dermatitis 20 / 7739
18
 (HPO:0002633) Vasculitis 12 / 7739
19
 (HPO:0010702) Increased antibody level in blood rare [HPO:skoehler] 29 / 7739
20
 (HPO:0001873) Thrombocytopenia rare [HPO:skoehler] 224 / 7739
21
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
22
 (HPO:0002059) Cerebral atrophy 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: