Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 2
19 OMIM references -
18 associated genes
No signs/symptoms info
Isolated plagiocephaly
Normosmic congenital hypogonadotropic hypogonadism

FGFR3 CHD7
TCF12 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:


Isolated plagiocephaly
FGFR3 TCF12
Normosmic congenital hypogonadotropic hypogonadism
CHD7 DUSP6 FGF17 FGF8 FGFR1 GNRH1
GNRHR HS6ST1 KAL1 KISS1 KISS1R NSMF
PROK2 PROKR2 SPRY4 TAC3 TACR3 WDR11



Isolated plagiocephaly
Normosmic congenital hypogonadotropic hypogonadism

Synonym(s):
- Non-syndromic unicoronal synostosis
- Synostotic plagiocephaly

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: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
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

Isolated plagiocephaly

Very frequent
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Plagiocephaly

Frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Strabismus / squint

Occasional
- Autosomal dominant inheritance
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface


Normosmic congenital hypogonadotropic hypogonadism

(no data available)