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Aicardi-Goutières syndrome
7 OMIM references -
6 associated genes
72 connected diseases
10 signs/symptoms
Disease Type of connection
Chilblain lupus
Cerebroretinal vasculopathy
Dyschromatosis symmetrica hereditaria
Familial infantile bilateral striatal necrosis
HERNS syndrome
Hereditary vascular retinopathy
Amyotrophic lateral sclerosis
Pseudohypoaldosteronism type 2E
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Hereditary breast and ovarian cancer syndrome
Peters anomaly
Familial multinodular goiter
Ovarian malignant Sertoli-Leydig cell tumor
Pleuropulmonary blastoma family tumor susceptibility syndrome
Ewing sarcoma
Extraskeletal Ewing sarcoma
Peripheral primitive neuroectodermal tumor
17q11 microdeletion syndrome
Angelman syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Boomerang dysplasia
Bruck syndrome
Common variable immunodeficiency
Congenital myopathy, Paradas type
Craniolenticulosutural dysplasia
Distal myopathy with anterior tibial onset
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Frontotemporal dementia with motor neuron disease
Hereditary combined deficiency of vitamin K-dependent clotting factors
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Lethal acantholytic epidermolysis bullosa
Miyoshi myopathy
Naxos disease
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Spondylocarpotarsal synostosis
Weaver syndrome
Wolf-Hirschhorn syndrome
Young adult-onset Parkinsonism
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Seckel syndrome
Ataxia-telangiectasia
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Combined cervical dystonia
Familial prostate cancer
Mantle cell lymphoma
Nijmegen breakage syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency
Autoimmune lymphoproliferative syndrome
Juvenile myelomonocytic leukemia
Large congenital melanocytic nevus
Noonan syndrome
Synonym(s):
- Encephalopathy with basal ganglia calcification
- Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant
External references:
7 OMIM references -
1 MeSH reference: C535607
Very frequent
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Porencephaly

Frequent
- Coloboma of the eyelid
- Hemiplegia / diplegia / hemiparesia / limb palsy

Occasional
- Microcephaly
- Plagiocephaly
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus