ORPHA:51
Aicardi-Goutières syndrome
Synonyms: Encephalopathy with basal ganglia calcification · Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare inherited subacute encephalopathy characterized by the variable association of basal ganglia calcification, leukodystrophy, cerebrospinal fluid (CSF) lymphocytosis and evidence of enhanced type I interferon signaling in blood and CSF.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aicardi-Goutières syndrome | Encephalopathy with basal ganglia calcification · Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid |
| fr | Syndrome d'Aicardi-Goutières | Encéphalopathie familiale avec calcifications intracrâniennes et lymphocytose chronique du LCR · Syndrome d'encéphalopathie-calcification des ganglions basaux |
| de | Aicardi-Goutières-Syndrom | Enzephalopathie mit Basalganglien-Kalzifikation · Enzephalopathie mit intrakranieller Verkalkung und chronischer CSF-Lymphozytose |
| es | Síndrome de Aicardi-Goutières | Encefalopatía con calcificaciones intracraneales y linfocitosis crónica del líquido cefalorraquídeo · Encefalopatía con calcificación de los ganglios basales |
| it | Sindrome di Aicardi-Goutières | Encefalopatia con calcificazione dei gangli basali · Encefalopatia con calcificazione intracranica e linfocitosi cronica del liquido cerebrospinale |
| nl | Syndroom van Aicardi-Goutières | Encefalopathie met calcificatie van basale ganglia · Encefalopathie met intracraniële calcificatie en chronische lymfocytose van cerebrospinaal vocht |
| pt | Síndrome Aicardi-Goutieres | |
| pl | Zespół Aicardiego i Goutièresa | Encefalopatia z zwapnieniem wewnątrzczaszkowym i przewlekłą leukocytozą płynu mózgowo-rdzeniowego · Encefalopatia z zwapnieniem zwojów podstawnych |
| cs | Aicardiho-Goutièresův syndrom | Encefalopatie s kalcifikací bazálních ganglií · Encefalopatie s intrakraniální kalcifikací a chronickou lymfocytózou likvoru · Aicardi-Goutièresův syndrom |
| uk | Синдром Айкарді-Гутьєреса | Енцефалопатія з кальцифікацією базальних гангліїв · Енцефалопатія з внутрішньочерепною кальцифікацією та хронічним лімфоцитозом спинномозкової рідини |
| zh | Aicardi-GoutiÞres综合征 | 脑病伴颅内钙化和脑脊液慢性淋巴细胞增多 |
| tr | Aicardi-GoutiÞres sendromu | Bazal gangliyon kalsifikasyonu ile seyreden ensefalopati · İntrakraniyal kalsifikasyon ile seyreden ensefalopati ve beyin omurilik sıvısının kronik lenfositozu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 225750 | BTNT | validated | |
| OMIM | 610181 | BTNT | validated | |
| OMIM | 610329 | BTNT | validated | |
| OMIM | 610333 | BTNT | validated | |
| OMIM | 612952 | BTNT | validated | |
| OMIM | 615010 | BTNT | validated | |
| OMIM | 615846 | BTNT | validated | |
| OMIM | 619486 | BTNT | validated | |
| OMIM | 619487 | BTNT | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.2 | NTBT | index | validated |
| MONDO | 0018866 | E | validated | |
| MeSH | C535607 | E | validated | |
| UMLS | C0393591 | E | validated | |
| GARD | 575 | E | validated | |
| MedDRA | 10083189 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:477771Rare disorder with a moyamoya angiopathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:481671Type 1 interferonopathy of childhood
rare systemic or rheumatologic diseases of childhood
No children.
4
Genes
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IFIH1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:18873 | ENSG00000115267 | 606951 | 2q24.2 | interferon induced with helicase C domain 1 | 24686847[PMID]_24995871[PMID] |
| ADAR | Disease-causing germline mutation(s) in | Assessed | HGNC:225 | ENSG00000160710 | 146920 | 1q21.3 | adenosine deaminase RNA specific | 20301648[PMID]_23001123[PMID] |
| LSM11 | Disease-causing germline mutation(s) in | Assessed | HGNC:30860 | ENSG00000155858 | 617910 | 5q33.3 | LSM11, U7 small nuclear RNA associated | 33230297[PMID] |
| RNASEH2A | Disease-causing germline mutation(s) in | Assessed | HGNC:18518 | ENSG00000104889 | 606034 | 19p13.13 | ribonuclease H2 subunit A | 20301648[PMID] |
| RNASEH2B | Disease-causing germline mutation(s) in | Assessed | HGNC:25671 | ENSG00000136104 | 610326 | 13q14.3 | ribonuclease H2 subunit B | 20301648[PMID] |
| RNASEH2C | Disease-causing germline mutation(s) in | Assessed | HGNC:24116 | ENSG00000172922 | 610330 | 11q13.1 | ribonuclease H2 subunit C | 20301648[PMID] |
| RNU7-1 | Disease-causing germline mutation(s) in | Assessed | HGNC:34033 | ENSG00000238923 | 617876 | 12p13.31 | RNA, U7 small nuclear 1 | 33230297[PMID] |
| SAMHD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:15925 | ENSG00000101347 | 606754 | 20q11.23 | SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | 20301648[PMID]_20842748[PMID]_19525956[PMID] |
| TREX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12269 | ENSG00000213689 | 606609 | 3p21.31 | three prime repair exonuclease 1 | 20301648[PMID]_16845398[PMID]_17357087[PMID]_20799324[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2015[OTHER] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_20301648[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
72 annotations · validated 2023-09-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002139 | Arrhinencephaly | |
| HP:0001263 | Global developmental delay | |
| HP:0001276 | Hypertonia | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0007052 | Multifocal cerebral white matter abnormalities | |
| HP:0002132 | Porencephaly | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0002960 | Autoimmunity | |
| HP:0008936 | Axial hypotonia | |
| HP:0012444 | Brain atrophy | |
| HP:0002514 | Cerebral calcification | |
| HP:0009710 | Chilblains | |
| HP:0009704 | Chronic CSF lymphocytosis | |
| HP:0000444 | Convex nasal ridge | |
| HP:0002376 | Developmental regression | |
| HP:0000958 | Dry skin | |
| HP:0001332 | Dystonia | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0007076 | Extrapyramidal muscular rigidity | |
| HP:0000625 | Eyelid coloboma | |
| HP:0001288 | Gait disturbance | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0009709 | Increased CSF interferon alpha | |
| HP:0030356 | Increased serum interferon-gamma level | |
| HP:0000737 | Irritability | |
| HP:0002415 | Leukodystrophy | |
| HP:0002371 | Loss of speech | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0001955 | Unexplained fevers | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0001063 | Acrocyanosis | |
| HP:0001369 | Arthritis | |
| HP:0001640 | Cardiomegaly | |
| HP:0000965 | Cutis marmorata | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0001087 | Developmental glaucoma | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000501 | Glaucoma | |
| HP:0002315 | Headache | |
| HP:0001609 | Hoarse voice | |
| HP:0000821 | Hypothyroidism | |
| HP:0000369 | Low-set ears | |
| HP:0000054 | Micropenis | |
| HP:0002828 | Multiple joint contractures | |
| HP:0003552 | Muscle stiffness | |
| HP:0004809 | Neonatal alloimmune thrombocytopenia | |
| HP:0000639 | Nystagmus | |
| HP:0012490 | Panniculitis | |
| HP:0001357 | Plagiocephaly | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0000508 | Ptosis | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0002650 | Scoliosis | |
| HP:0002313 | Spastic paraparesis | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0001337 | Tremor | |
| Very rare (<4-1%) | ||
| HP:0004942 | Aortic aneurysm | |
| HP:0004963 | Calcification of the aorta | |
| HP:0005550 | Chronic lymphatic leukemia | |
| HP:0040140 | Degeneration of the striatum | |
| HP:0030038 | Enchondroma | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0100578 | Lipoatrophy | |
| HP:0011834 | Moyamoya phenomenon | |
| HP:0100614 | Myositis | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 37515439[PMID]_20301648[PMID]_29239743[PMID]_27260006[PMID]_26445875[PMID]_27604406[PMID]_26052098[PMID]_24995871[PMID]_24686847[PMID]_23001123[PMID]_21633013[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/51
- This record as JSON: /data/d/51.json