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14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Semilobar holoprosencephaly
Severe achondroplasia - developmental delay - acanthosis nigricans

CDON FGFR3
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
(0.73)
FGFR3



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Severe achondroplasia - developmental delay - acanthosis nigricans
FGFR3



Semilobar holoprosencephaly
Severe achondroplasia - developmental delay - acanthosis nigricans

Synonym(s):
(no synonyms)

Synonym(s):
- SADDAN

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
- Rare skin 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: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant

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

Severe achondroplasia - developmental delay - acanthosis nigricans

Very frequent
- Anomalies of bones / skeletal anomalies
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Clavicle absent / abnormal
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly



Semilobar holoprosencephaly

(no data available)