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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
29 signs/symptoms
Microform holoprosencephaly
Crouzon syndrome - 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:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Crouzon syndrome - acanthosis nigricans
FGFR3



Microform holoprosencephaly
Crouzon syndrome - acanthosis nigricans

Synonym(s):
- Microform HPE

Synonym(s):
- Crouzono-dermoskeletal syndrome

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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: <1 / 1 000 000
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

Crouzon syndrome - acanthosis nigricans

Very frequent
- Acanthosis nigricans
- Autosomal dominant inheritance
- Frontal bossing / prominent forehead
- High forehead

Frequent
- Abnormal vertebral size / shape
- Arnold-Chiari anomaly
- Brachycephaly / flat occiput
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Conductive deafness / hearing loss
- Cranial hypertension
- Hydrocephaly
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Metacarpal anomalies / Archibald's sign
- Mid-facial hypoplasia / short / small midface
- Proptosis / exophthalmos
- Ptosis
- Short hand / brachydactyly
- Strabismus / squint
- Turricephaly / oxycephaly / acrocephaly

Occasional
- Beaked nose
- Facial pain / cephalalgia / migraine
- High vaulted / narrow palate
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sacro-coccyx / sacrum anomaly
- Visual loss / blindness / amblyopia


Microform holoprosencephaly

(no data available)