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14 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
28 signs/symptoms
Semilobar holoprosencephaly
Gorlin syndrome

CDON PTCH1
DISP1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


COMMON
GENES
PTCH1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Gorlin syndrome



Semilobar holoprosencephaly
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 endocrine disease
- 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: multigenic/multifactorial
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:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Gorlin syndrome

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


Semilobar holoprosencephaly

(no data available)