ODCs

Cytoscape Web

Click node...

Aicardi-GoutiÃ¨res syndrome

7 OMIM references -
6 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1

Craniolenticulosutural dysplasia

1 OMIM reference -
1 associated gene
34 signs/symptoms

Aicardi-GoutiÃ¨res syndrome

Craniolenticulosutural dysplasia

ADAR	(UniProt - OMIM)		SEC23A	(UniProt - OMIM)
RNASEH2A	(UniProt - OMIM)
RNASEH2B	(UniProt - OMIM)
RNASEH2C	(UniProt - OMIM)
SAMHD1	(UniProt - OMIM)
TREX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SAMHD1	(0.63)	SEC23A

Citations in the biomedical literature:

Aicardi-GoutiÃ¨res syndrome		Craniolenticulosutural dysplasia
	Synonym(s): - Encephalopathy with basal ganglia calcification - Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid		Synonym(s): - Boyadjiev-Jabs syndrome

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: <1 / 1 000 000 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 - No MeSH references

Aicardi-GoutiÃ¨res syndrome		Craniolenticulosutural dysplasia
	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		Very frequent - Abnormal vertebral size / shape - Anodontia / oligodontia / hypodontia - Autosomal recessive inheritance - Brittle hair / distrix / trichorrhexis - Broad nose / nasal bridge - Cataract / lens opacification - Coarse / thick hair - Complete / partial microdontia - Delayed dentition / eruption of teeth / lack of eruption of teeth - Frontal bossing / prominent forehead - High nasal bridge - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Large fontanelle / delayed fontanelle closure - Long philtrum - Macrostomia / big mouth - Multiple caries - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Philtrum flat / large / featureless / absent cupidon bows - Poorly ossified skull / calvarium - Prominent supraorbital ridge - Scoliosis - Short stature / dwarfism / nanism - Thin / retracted lips Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Flat foot - Narrow rib cage / thorax - Narrow / sloping shoulders - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia