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14 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
10 signs/symptoms
Semilobar holoprosencephaly
Syndactyly type 4

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
Syndactyly type 4
LMBR1



Semilobar holoprosencephaly
Syndactyly type 4

Synonym(s):
(no synonyms)

Synonym(s):
- Polysyndactyly, Haas type

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 -
No MeSH references

Syndactyly type 4

Very frequent
- Autosomal dominant inheritance
- Complete claw hand / camptodactyly of all fingers
- Syndactyly of fingers / interdigital palm
- Upper limb polydactyly / hexadactyly

Frequent
- Metacarpal anomalies / Archibald's sign
- Polydactyly of toes
- Syndactyly of toes
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Occasional
- Fingerlike / triphalangeal thumb
- Restricted joint mobility / joint stiffness / ankylosis


Semilobar holoprosencephaly

(no data available)