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7 OMIM references -
6 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
44 signs/symptoms
Aicardi-Goutières syndrome
Nijmegen breakage syndrome

ADAR NBN
RNASEH2A
RNASEH2B
RNASEH2C
SAMHD1
TREX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TREX1
(0.52)
NBN



Citations in the biomedical literature:


Aicardi-Goutières syndrome
ADAR RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1

Nijmegen breakage syndrome
NBN



Aicardi-Goutières syndrome
Nijmegen breakage syndrome

Synonym(s):
- Encephalopathy with basal ganglia calcification
- Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

Synonym(s):
- AT V1
- Ataxia-telangiectasia, variant 1
- Berlin breakage syndrome
- Immunodeficiency - microcephaly - chromosomal instability
- Microcephaly - immunodeficiency - lymphoreticuloma
- NBS
- Seemanova syndrome type 2

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
7 OMIM references -
1 MeSH reference: C535607
External references:
1 OMIM reference -
2 MeSH references: D049932 / C531759


COMMON
SIGNS
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly


Aicardi-Goutières syndrome
Nijmegen breakage syndrome

Very frequent
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypertonia / spasticity / rigidity / stiffness
- Porencephaly

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

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


Very frequent
- Anomalies of ear and hearing
- Anus / rectum anomalies
- Autosomal recessive inheritance
- Beaked nose
- Chromosome breakage
- Depressed nasal bridge
- Face / facial anomalies
- Hair and scalp anomalies
- Hemolytic anemia
- Hyperactivity / attention deficit
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Long / large / bulbous nose
- Low hair line-front
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Micrognathia / retrognathia / micrognathism / retrognathism
- Monoclonal immunoglobulins / gammapathy / dysglobulinemia
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Philtrum deeply grooved
- Repeat respiratory infections
- Short neck
- Short stature / dwarfism / nanism
- Sloping forehead
- Thrombocytopenia / thrombopenia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy

Frequent
- Neoplasms / tumors
- Thymic aplasia / hypoplasia

Occasional
- Acute leukemia
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Excessive freckling
- Glial tumor / glioblastoma
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Lymphoma
- Medulloblastoma
- Muscle anomalies
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Skin photosensitivity