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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
17 OMIM references -
19 associated genes
44 signs/symptoms
Desmoid tumor
Kallmann syndrome

APC CHD7
CTNNB1 DUSP6
FGF17
FGF8
FGFR1
FLRT3
HESX1
HS6ST1
IL17RD
KAL1
KISS1R
NSMF
PROK2
PROKR2
SEMA3A
SOX10
SPRY4
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
Kallmann syndrome
CHD7 DUSP6 FGF17 FGF8 FGFR1 FLRT3
HESX1 HS6ST1 IL17RD KAL1 KISS1R NSMF
PROK2 PROKR2 SEMA3A SOX10 SPRY4 TACR3
WDR11



Desmoid tumor
Kallmann syndrome

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

Synonym(s):
- Congenital hypogonadotropic hypogonadism with anosmia
- Olfacto-genital pathological sequence

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: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
17 OMIM references -
1 MeSH reference: D017436

Desmoid tumor
Kallmann syndrome

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


Very frequent
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Impotence / painful erection / priapism / erection troubles
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Sterility / hypofertility
- X-linked recessive inheritance

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Breast tissue / mammary gland absence / aplasia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Primary amenorrhea
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Abnormal gait
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Agenesis / hypoplasia / aplasia of kidneys
- Anodontia / oligodontia / hypodontia
- Ataxia / incoordination / trouble of the equilibrium
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Congenital cardiac anomaly / malformation / cardiopathy
- Delayed bone age
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Dyspareunia / coital pain / vaginal dryness
- Elocution disorders / dysarthria / dysphonia
- Generalized obesity
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypotonia
- Ichthyosis / ichthyosiform dermatitis
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Movement disorder
- Muscle weakness / flaccidity
- Mutiple fractures / bone fragility
- Nystagmus
- Pes cavus
- Pes talus
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Tremor
- Uterine / uterus / Fallopian tubes anomalies
- Visual loss / blindness / amblyopia