ODCs

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1 OMIM reference -
2 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
No signs/symptoms info

Triphalangeal thumb - polysyndactyly syndrome

Commissural facial cleft

LMBR1	(UniProt - OMIM)		PTCH2	(UniProt - OMIM)
SHH	(UniProt - OMIM)		SPECC1L	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SHH	(0.52)	PTCH2

Citations in the biomedical literature:

Triphalangeal thumb - polysyndactyly syndrome		Commissural facial cleft
	Synonym(s): - TPT-PS syndrome		Synonym(s): - Macrostomia

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C536563		External references: 1 OMIM reference - No MeSH references

Triphalangeal thumb - polysyndactyly syndrome
	Very frequent - Autosomal dominant inheritance - Fingerlike / triphalangeal thumb - Syndactyly of fingers / interdigital palm Frequent - Metacarpal anomalies / Archibald's sign - Postaxial polydactyly (hand) - Preaxial polydactyly (hand) - Syndactyly of toes - Thumb duplication / distal bifid thumb phalangeal bone Occasional - Broad / bifid thumb - Postaxial polydactyly of toes / fifth supernumerary toe - Preaxial polydactyly of toes / big toe duplication
Commissural facial cleft
(no data available)