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Commissural facial cleft
1 OMIM reference -
2 associated genes
29 connected diseases
No signs/symptoms info
Disease Type of connection
Tessier number 4 facial cleft
APC-related attenuated familial adenomatous polyposis
Acute megakaryoblastic leukemia without Down syndrome
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Juvenile autosomal recessive medullary cystic kidney disease
Papillary or follicular thyroid carcinoma
Turcot syndrome with polyposis
46,XY complete gonadal dysgenesis
46,XY gonadal dysgenesis - motor and sensory neuropathy
Acrocapitofemoral dysplasia
Alobar holoprosencephaly
Brachydactyly type A1
Colobomatous microphthalmia
Hypoplastic tibiae - postaxial polydactyly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Polydactyly of a triphalangeal thumb, bilateral
Polydactyly of a triphalangeal thumb, unilateral
Radial hemimelia, bilateral
Radial hemimelia, unilateral
Schizencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Solitary median maxillary central incisor syndrome
Syndactyly type 4
Triphalangeal thumb - polysyndactyly syndrome
Synonym(s):
- Macrostomia

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease

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

Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
PTCH2 Q9Y6C5603673
SPECC1L Q69YQ0614140
No signs/symptoms info available.