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1 OMIM reference -
1 associated gene
29 signs/symptoms
PROTEIN INTERACTIONS: 2
19 OMIM references -
18 associated genes
No signs/symptoms info
Crouzon syndrome - acanthosis nigricans
Normosmic congenital hypogonadotropic hypogonadism

FGFR3 CHD7
DUSP6
FGF17
FGF8
FGFR1
GNRH1
GNRHR
HS6ST1
KAL1
KISS1
KISS1R
NSMF
PROK2
PROKR2
SPRY4
TAC3
TACR3
WDR11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGFR3
FGFR3
(0.73)
(0.52)
FGF8
FGF17



Citations in the biomedical literature:


Crouzon syndrome - acanthosis nigricans
FGFR3
Normosmic congenital hypogonadotropic hypogonadism
CHD7 DUSP6 FGF17 FGF8 FGFR1 GNRH1
GNRHR HS6ST1 KAL1 KISS1 KISS1R NSMF
PROK2 PROKR2 SPRY4 TAC3 TACR3 WDR11



Crouzon syndrome - acanthosis nigricans
Normosmic congenital hypogonadotropic hypogonadism

Synonym(s):
- Crouzono-dermoskeletal syndrome

Synonym(s):
- Gonadotropic deficiency
- Isolated congenital gonadotropin deficiency
- nIHH
- normosmic idiopathic hypogonadotropic hypogonadism

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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


Normosmic congenital hypogonadotropic hypogonadism

(no data available)