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Desmoid tumor
1 OMIM reference -
2 associated genes
322 connected diseases
21 signs/symptoms
Disease Type of connection
Autosomal dominant nonsyndromic intellectual deficit
Hepatocellular carcinoma, childhood-onset
APC-related attenuated familial adenomatous polyposis
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Turcot syndrome with polyposis
Familial isolated dilated cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial thoracic aortic aneurysm and aortic dissection
Retinitis pigmentosa
Mosaic variegated aneuploidy syndrome
Early-onset autosomal dominant Alzheimer disease
Young adult-onset Parkinsonism
Lethal acantholytic epidermolysis bullosa
Naxos disease
Split hand-split foot malformation
Autosomal agammaglobulinemia
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Precursor B-cell acute lymphoblastic leukemia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Giant cell glioblastoma
Branchio-oculo-facial syndrome
Precursor T-cell acute lymphoblastic leukemia
Acute necrotizing encephalopathy of childhood
Amyotrophic lateral sclerosis
Familial acute necrotizing encephalopathy
Inflammatory myofibroblastic tumor
Epidermolytic palmoplantar keratoderma
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial pancreatic carcinoma
MODY syndrome
Juvenile myelomonocytic leukemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant secondary polycythemia
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Fanconi anemia
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Multiple paragangliomas associated with polycythemia
Oligodontia - cancer predisposition syndrome
Septo-optic dysplasia
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Loeys-Dietz syndrome type 1
Hereditary breast and ovarian cancer syndrome
Autosomal recessive epidermolysis bullosa simplex
Cowden syndrome
Proteus syndrome
Behavioral variant of frontotemporal dementia
Familial gastric cancer
Gastric linitis plastica
Progressive non-fluent aphasia
Semantic dementia
SHORT syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Fuchs endothelial corneal dystrophy
Kennedy disease
Pallister-Hall syndrome
Partial androgen insensitivity syndrome
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
46,XX gonadal dysgenesis
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Hyperparathyroidism - jaw tumor syndrome
Parathyroid carcinoma
Chronic myeloid leukemia
EEM syndrome
Hypotrichosis with juvenile macular degeneration
Axenfeld anomaly
Axenfeld-Rieger syndrome
Familial atrial fibrillation
Peters anomaly
Rieger anomaly
Ring dermoid of cornea
Aneurysm - osteoarthritis syndrome
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Uveal coloboma - cleft lip and palate - intellectual deficit
Zonular cataract
Familial papillary renal cell carcinoma
Autosomal recessive axonal neuropathy with neuromyotonia
Huntington disease
Juvenile Huntington disease
T-B+ severe combined immunodeficiency due to CD45 deficiency
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Acute megakaryoblastic leukemia without Down syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Juvenile autosomal recessive medullary cystic kidney disease
Multiple endocrine neoplasia type 1
Zollinger-Ellison syndrome
Acute promyelocytic leukemia
Extraskeletal Ewing sarcoma
Familial renal cell carcinoma
Hyperinsulinism due to HNF4A deficiency
Weaver syndrome
X-linked Emery-Dreifuss muscular dystrophy
Coffin-Siris syndrome
Familial rhabdoid tumor
X-linked non-syndromic intellectual deficit
Childhood absence epilepsy
Combined pituitary hormone deficiencies, genetic forms
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Juvenile myoclonic epilepsy
Charcot-Marie-Tooth disease type 4D
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Alobar holoprosencephaly
Estrogen resistance syndrome
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Hereditary hypotrichosis with recurrent skin vesicles
Hereditary nonpolyposis colon cancer
Inherited acute myeloid leukemia
Lobar holoprosencephaly
Marfan syndrome type 2
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Myhre syndrome
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Annular epidermolytic ichthyosis
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Epidermolytic ichthyosis
Frontotemporal dementia with motor neuron disease
Ichthyosis hystrix of Curth-Macklin
Juvenile amyotrophic lateral sclerosis
Keratosis palmoplantaris striata
LEOPARD syndrome
Myxoid / round cell liposarcoma
Noonan syndrome
Obesity due to prohormone convertase I deficiency
Usher syndrome type 1
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Scalp-ear-nipple syndrome
Holt-Oram syndrome
Miller-Dieker syndrome
Chondrodysplasia, Blomstrand type
Dental ankylosis
Eiken syndrome
Familial vesicoureteral reflux
Metaphyseal chondrodysplasia, Jansen type
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Occipital encephalocele
2q23.1 microdeletion syndrome
2q37 microdeletion syndrome
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Alveolar rhabdomyosarcoma
Anaplastic ependymoma
Anophthalmia / microphthalmia - esophageal atresia
Atelosteogenesis type I
Atelosteogenesis type III
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Larsen syndrome
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant macrothrombocytopenia
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive ataxia, Beauce type
Autosomal recessive myogenic arthrogryposis multiplex congenita
Behçet disease
Boomerang dysplasia
Charcot-Marie-Tooth disease type 2B1
Childhood-onset nemaline myopathy
Chronic intestinal pseudoobstruction
Colobomatous microphthalmia
Commissural facial cleft
Congenital bilateral absence of vas deferens
Congenital muscular dystrophy due to LMNA mutation
Congenital short bowel syndrome
Congenital valvular dysplasia
Cornelia de Lange syndrome
Cystic fibrosis
Dedifferentiated liposarcoma
Dermatopathia pigmentosa reticularis
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Dowling-Degos disease
Early infantile epileptic encephalopathy
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
Ehlers-Danlos syndrome with periventricular heterotopia
Epidermolysis bullosa simplex with circinate migratory erythema
Familial aortic dissection
Familial congenital palsy of trochlear nerve
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial infantile bilateral striatal necrosis
Familial isolated congenital asplenia
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Frontometaphyseal dysplasia
Generalized junctional epidermolysis bullosa, non-Herlitz type
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Growth delay due to insulin-like growth factor I resistance
Hartsfield-Bixler-Demyer syndrome
Heart-hand syndrome, Slovenian type
Hereditary chronic pancreatitis
Hutchinson-Gilford progeria syndrome
Hyperinsulinism due to HNF1A deficiency
Idiopathic bronchiectasis
Immunodeficiency due to an early component of complement deficiency
Inherited congenital spastic tetraplegia
Intermediate nemaline myopathy
Isolated anophthalmia - microphthalmia
Isolated trigonocephaly
Junctional epidermolysis bullosa, Herlitz type
Kallmann syndrome
LMNA-related cardiocutaneous progeria syndrome
LOC syndrome
Laminopathy type Decaudain-Vigouroux
Leber 'plus' disease
Leber hereditary optic neuropathy
Left ventricular noncompaction
Lethal restrictive dermopathy
Lissencephaly due to TUBA1A mutation
MELAS syndrome
Male infertility with normal virilization due to meiosis defect
Mandibuloacral dysplasia with type A lipodystrophy
Maternally-inherited Leigh syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Myeloid neoplasm associated with FGFR1 rearrangement
Naegeli-Franceschetti-Jadassohn syndrome
Normosmic congenital hypogonadotropic hypogonadism
Osteodysplasty, Melnick-Needles type
Osteoglophonic dwarfism
Osteopathia striata - cranial sclerosis
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Pachyonychia congenita
Papillary or follicular thyroid carcinoma
Periventricular nodular heterotopia
Pfeiffer syndrome type 1
Pilocytic astrocytoma
Progeria-associated arthropathy
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Pseudohypoaldosteronism type 2E
Severe congenital nemaline myopathy
Spectrin-associated autosomal recessive cerebellar ataxia
Spinocerebellar ataxia type 18
Spinocerebellar ataxia type 5
Spondylocarpotarsal synostosis
Terminal osseous dysplasia - pigmentary defects
Tessier number 4 facial cleft
Translocation renal cell carcinoma
Typical nemaline myopathy
Well-differentiated liposarcoma
White sponge nevus
Wolf-Hirschhorn syndrome
X-linked dystonia-parkinsonism
B-cell chronic lymphocytic leukemia
Familial advanced sleep-phase syndrome
Mantle cell lymphoma
Multiple myeloma
Monosomy 5p
Neurofibromatosis type 2
Neurofibromatosis type 3
Craniolenticulosutural dysplasia
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal recessive nonsyndromic intellectual deficit
Autosomal recessive primary microcephaly
Autoimmune lymphoproliferative syndrome with recurrent infections
Clear cell renal carcinoma
Familial capillary hemangioma
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Multiple keratoacanthoma, Ferguson-Smith type
Ocular albinism with congenital sensorineural deafness
Papillary renal cell carcinoma
Tietz syndrome
Townes-Brocks syndrome
Waardenburg syndrome type 2
X-linked distal arthrogryposis multiplex congenita
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Bannayan-Riley-Ruvalcaba syndrome
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Donnai-Barrow syndrome
Hereditary sensory and autonomic neuropathy type 6
Heritable pulmonary arterial hypertension
Hypotrichosis simplex
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Limited cutaneous systemic sclerosis
Macrocephaly-autism syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
- Aggressive fibromatosis
- Desmoid type fibromatosis

Classification (Orphanet):
- Rare oncologic disease

Classification (ICD10):
- Neoplasms -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
APC P25054611731
CTNNB1 P35222116806
Very frequent
- Anomalies of the abdominal wall
- Fibromatosis / bone fibroma
- Muscle anomalies
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

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

- 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