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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
38 signs/symptoms
Desmoid tumor
Osteodysplasty, Melnick-Needles type

APC FLNA
CTNNB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APC
(0.63)
FLNA



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Osteodysplasty, Melnick-Needles type
FLNA



Desmoid tumor
Osteodysplasty, Melnick-Needles type

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

Synonym(s):
- Melnick-Needles syndrome

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: childhood
Average age of death: -
Type of inheritance: x-linked dominant

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


COMMON
SIGNS
- Megaureter / hydronephrosis / pyeloureteral junction syndrome


Desmoid tumor
Osteodysplasty, Melnick-Needles type

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
- 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
- Bowed diaphysis / diaphyses / long bones
- Cortical anomaly / thick bone cortical layer
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hypertelorism
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Long foot / arachnodactyly of toes
- Long hand / arachnodactyly
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Prominent supraorbital ridge
- Proptosis / exophthalmos
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- X-linked dominant inheritance

Frequent
- Abnormal vertebral size / shape
- Anodontia / oligodontia / hypodontia
- Broad cheeks / cherub-like / cherubin face
- Cardiac septal defect
- Clavicle absent / abnormal
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Hearing loss / hypoacusia / deafness
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperextensible joints / articular hyperlaxity
- Metacarpal anomalies / Archibald's sign
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Repeat respiratory infections
- Rib structure anomalies
- Scoliosis
- Terminal / third phalangeal bone of fingers hypoplasia
- Vesicorenal / vesicoureteral reflux

Occasional
- Omphalocele / exomphalos
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Stillbirth / neonatal death