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14 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
11 signs/symptoms
Semilobar holoprosencephaly
Triphalangeal thumb - polysyndactyly syndrome

CDON LMBR1
DISP1 SHH
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


COMMON
GENES
SHH


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PTCH1
GAS1
(0.59)
(0.55)
SHH
SHH



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Triphalangeal thumb - polysyndactyly syndrome
LMBR1



Semilobar holoprosencephaly
Triphalangeal thumb - polysyndactyly syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- TPT-PS syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

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


Semilobar holoprosencephaly

(no data available)