ODCs

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1 OMIM reference -
4 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Gorlin syndrome

1 OMIM reference -
1 associated gene
28 signs/symptoms

Schizencephaly

Gorlin syndrome

COL4A1	(UniProt - OMIM)		PTCH1	(UniProt - OMIM)
EMX2	(UniProt - OMIM)
SHH	(UniProt - OMIM)
SIX3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SHH	(0.59)	PTCH1

Citations in the biomedical literature:

Schizencephaly		Gorlin syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Basal cell nevus syndrome - NBCCS - Nevoid basal cell carcinoma syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Strabismus / squint

Schizencephaly		Gorlin syndrome
	Very frequent - Corpus callosum / septum pellucidum total / partial agenesis - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Porencephaly Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Autosomal dominant inheritance - Dermoid sinus / dimple / pit (excluding sacral) - Intracranial / cerebral calcifications - Neoplasms / tumors - Pigmented naevi / naevus pigmentosus / lentigo Frequent - Abnormal vertebral size / shape - Anomalies of the neck - Broad nasal root - Scoliosis - Short hand / brachydactyly Occasional - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Brachycephaly / flat occiput - Cataract / lens opacification - Coloboma of iris - Epicanthic folds - Frontal bossing / prominent forehead - Glaucoma - Hydrocephaly - Hypertelorism - Late puberty / hypogonadism / hypogenitalism - Long hand / arachnodactyly - Multiple caries - Prognathism / prognathia - Telecanthus / canthal dystopy - Undescended / ectopic testes / cryptorchidia / unfixed testes - Vertebral segmentation anomaly / hemivertebrae