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Gorlin syndrome
1 OMIM reference -
1 associated gene
27 connected diseases
28 signs/symptoms
Disease Type of connection
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Monosomy 9q22.3
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Familial isolated dilated cardiomyopathy
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Syndromic multisystem autoimmune disease due to Itch deficiency
Colobomatous microphthalmia
Hypoplastic tibiae - postaxial polydactyly
Polydactyly of a triphalangeal thumb, bilateral
Polydactyly of a triphalangeal thumb, unilateral
Radial hemimelia, bilateral
Radial hemimelia, unilateral
Schizencephaly
Solitary median maxillary central incisor syndrome
Syndactyly type 4
Triphalangeal thumb - polysyndactyly syndrome
46,XY complete gonadal dysgenesis
46,XY gonadal dysgenesis - motor and sensory neuropathy
Acrocapitofemoral dysplasia
Brachydactyly type A1
Synonym(s):
- Basal cell nevus syndrome
- NBCCS
- Nevoid basal cell carcinoma syndrome
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 -
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
Gene symbol UniProt reference OMIM reference
PTCH1 Q13635601309
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
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Long hand / arachnodactyly
- Multiple caries
- Prognathism / prognathia
- Strabismus / squint
- Telecanthus / canthal dystopy
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Vertebral segmentation anomaly / hemivertebrae