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Desmoid tumor
1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
Pallister-Hall syndrome
1 OMIM reference -
2 associated genes
39 signs/symptoms
Desmoid tumor
Pallister-Hall syndrome

APC
(UniProt - OMIM)
 GLI3
(UniProt - OMIM)
CTNNB1
(UniProt - OMIM)
 TCF4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CTNNB1
(0.9)
TCF4


Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Pallister-Hall syndrome
GLI3 TCF4



Desmoid tumor
Pallister-Hall syndrome

Synonym(s):
- Aggressive fibromatosis
- Desmoid type fibromatosis
Synonym(s):
- Hypothalamic hamartoblastoma syndrome
Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Neoplasms -
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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D054975
Desmoid tumor
Pallister-Hall 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
- Autosomal dominant inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Intrauterine growth retardation
- Postaxial polydactyly (hand)

Frequent
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cortico-adrenal hypoplasia / insufficiency
- Depressed nasal bridge
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Low set ears / posteriorly rotated ears
- Mesomelic micromelia
- Microglossia / aglossia / hypoglossia / tongue hypoplasia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Micropenis / small penis / agenesis
- Multicystic kidney / renal dysplasia
- Short / small nose
- Syndactyly of fingers / interdigital palm
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Abnormal vertebral size / shape
- Agenesis / hypoplasia / aplasia of kidneys
- Cardiac valvulopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Oral synechiae / abnormal frenulae
- Patent ductus arteriosus
- Postaxial polydactyly of toes / fifth supernumerary toe
- Precocious puberty
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly
- Stillbirth / neonatal death
- Syndactyly of toes
- Thyroid anomalies
- Ventricular septal defect / interventricular communication