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1 OMIM reference -
14 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
14 signs/symptoms
Microform holoprosencephaly
Hypoplastic tibiae - postaxial polydactyly

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:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Hypoplastic tibiae - postaxial polydactyly
LMBR1



Microform holoprosencephaly
Hypoplastic tibiae - postaxial polydactyly

Synonym(s):
- Microform HPE

Synonym(s):
- Werner mesomelic syndrome

Classification (Orphanet):
(no data available)
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: adult
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Hypoplastic tibiae - postaxial polydactyly

Very frequent
- Autosomal dominant inheritance
- Bowed diaphysis / diaphyses / long bones
- Clinodactyly of fifth finger
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Postaxial polydactyly (hand)
- Syndactyly of fingers / interdigital palm
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Frequent
- Preaxial polydactyly (hand)

Occasional
- Complete claw hand / camptodactyly of all fingers
- Fingerlike / triphalangeal thumb
- Restricted joint mobility / joint stiffness / ankylosis
- Short columella / depressed nasal tip
- Short stature / dwarfism / nanism
- Thumb hypoplasia / aplasia / absence


Microform holoprosencephaly

(no data available)