Aicardi-Goutieres Syndrome 1 |
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Prevalence (%) of clinical parameters based on data from 2 references describing 26 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Microcephaly | nervous | 100 % | 15883328 | 2014-01-24 | |
| Basal ganglia pathology | nervous | 100 % | 15883328 | 2014-01-24 | |
| Basal ganglia calcifications | nervous | 100 % | 15883328 | 2014-01-24 | |
| Leukodystrophy | nervous | 100 % | 15883328 | 2014-01-24 | |
| Cerebral atrophy | nervous | 100 % | 15883328 | 2014-01-24 | |
| Developmental delay | nervous | 100 % | 24300241 | 2014-01-24 | |
| CSF elevated neopterin | nervous | 75 % | 24300241 | 2014-01-24 | |
| CSF lymphocytosis | nervous | 70 % | 24300241 | 2014-01-24 | |
| CSF elevated IFN-alpha | nervous | 63 % | 24300241 | 2014-01-24 | |
| Serum elevated IFN-alpha | circulatory | 57 % | 24300241 | 2014-01-24 | |
| Irritability | nervous | 45 % | 15883328 | 2014-01-24 | |
| Psychomotor retardation | nervous | 45 % | 15883328 | 2014-01-24 | |
| Fever | nervous | 35 % | 15883328 | 2014-01-24 | |
| Feeding difficulties | nervous | 35 % | 15883328 | 2014-01-24 | |
| Increased blood transaminase | circulatory | 35 % | 15883328 | 2014-01-24 | |
| Seizures | nervous | 27 % | 15883328 | 2014-01-24 | |
| Chilblain-like lesions | integumentary | 18 % | 15883328 | 2014-01-24 |
List of references:
The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients.
G Lanzi, E Fazzi, S D'Arrigo, S Orcesi, I Maraucci, C Uggetti, E Bertini, P Lebon,
Neurology - May 2005
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
Junya Abe, Kazuyuki Nakamura, Ryuta Nishikomori, Mitsuhiro Kato, Noriko Mitsuiki, Kazushi Izawa, Tomonari Awaya, Tomoki Kawai, Takahiro Yasumi, Itaru Toyoshima, Kazuko Hasegawa, Yusei Ohshima, Toru Hiragi, Yoji Sasahara, Yasuhiro Suzuki, Masahiro Kikuchi, Hitoshi Osaka, Takashi Ohya, Shinya Ninomiya, Satoshi Fujikawa, Manami Akasaka, Naomi Iwata, Akiko Kawakita, Makoto Funatsuka, Haruo Shintaku, Osamu Ohara, Hiroshi Ichinose, Toshio Heike,
Rheumatology (Oxford, England) - Mar 2014