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14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
20 signs/symptoms
Semilobar holoprosencephaly
Osteoglophonic dwarfism

CDON FGFR1
DISP1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF8
(0.55)
FGFR1



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Osteoglophonic dwarfism
FGFR1



Semilobar holoprosencephaly
Osteoglophonic dwarfism

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: -
Average age onset: -
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: C536050

Osteoglophonic dwarfism

Very frequent
- Abnormal vertebral size / shape
- Anodontia / oligodontia / hypodontia
- Autosomal dominant inheritance
- Craniostenosis / craniosynostosis / sutural synostosis
- Hypertelorism
- Short stature / dwarfism / nanism

Frequent
- Anteverted nares / nostrils
- Clavicle absent / abnormal
- Delayed bone age
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent / bat ears
- Rhizomelic micromelia

Occasional
- Abnormal / absent ossification
- Choanal atresia
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Scoliosis
- Short hand / brachydactyly
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Semilobar holoprosencephaly

(no data available)