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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
19 OMIM references -
18 associated genes
No signs/symptoms info
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Normosmic congenital hypogonadotropic hypogonadism

APP 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)
APP
(0.56)
KISS1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Normosmic congenital hypogonadotropic hypogonadism
CHD7 DUSP6 FGF17 FGF8 FGFR1 GNRH1
GNRHR HS6ST1 KAL1 KISS1 KISS1R NSMF
PROK2 PROKR2 SPRY4 TAC3 TACR3 WDR11



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Normosmic congenital hypogonadotropic hypogonadism

Synonym(s):
- HCHWA, Arctic type

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

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
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

Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Normosmic congenital hypogonadotropic hypogonadism

(no data available)