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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
19 OMIM references -
18 associated genes
No signs/symptoms info
Desmoid tumor
Normosmic congenital hypogonadotropic hypogonadism

APC CHD7
CTNNB1 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)
CTNNB1
(0.63)
FGFR1



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Normosmic congenital hypogonadotropic hypogonadism
CHD7 DUSP6 FGF17 FGF8 FGFR1 GNRH1
GNRHR HS6ST1 KAL1 KISS1 KISS1R NSMF
PROK2 PROKR2 SPRY4 TAC3 TACR3 WDR11



Desmoid tumor
Normosmic congenital hypogonadotropic hypogonadism

Synonym(s):
- Aggressive fibromatosis
- Desmoid type fibromatosis

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

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: sporadic
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

Desmoid tumor

Very frequent
- Anomalies of the abdominal wall
- Fibromatosis / bone fibroma
- Muscle anomalies
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Acute abdominal pain / colic
- Myalgia / muscular pain
- Polyposis of the bowel / colon / intestine

Occasional
- Articular / joint pain / arthralgia
- Bladder and ureter anomalies
- Early death / lethality
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Intestinal obstruction / ileus
- Malabsorption / chronic diarrhea / steatorrhea
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Osteolysis / osteoclasia / bone destruction / erosions
- Restricted joint mobility / joint stiffness / ankylosis
- Retinitis pigmentosa / retinal pigmentary changes
- Sepsis severe / septicemia
- Skin tumors / lumps / epidermal cysts
- Thoracic / chest pain


Normosmic congenital hypogonadotropic hypogonadism

(no data available)