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Frontometaphyseal dysplasia
1 OMIM reference -
1 associated gene
33 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Desmoid tumor
1 OMIM reference -
2 associated genes
21 signs/symptoms
Frontometaphyseal dysplasia
Desmoid tumor

FLNA
(UniProt - OMIM)
 APC
(UniProt - OMIM)
CTNNB1
(UniProt - OMIM)

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


Citations in the biomedical literature:


Frontometaphyseal dysplasia
FLNA
Desmoid tumor
APC CTNNB1



Frontometaphyseal dysplasia
Desmoid tumor

Synonym(s):
(no synonyms)

Synonym(s):
- Aggressive fibromatosis
- Desmoid type fibromatosis
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant
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 -
1 MeSH reference: C538064
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Restricted joint mobility / joint stiffness / ankylosis

Frontometaphyseal dysplasia
Desmoid tumor

Very frequent
- Bowed diaphysis / diaphyses / long bones
- Camptodactyly of fingers
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Diaphyseal anomaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Frontal sinus agenesis / anomaly
- Hypertelorism
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent supraorbital ridge
- Tooth shape anomaly
- X-linked recessive inheritance

Frequent
- Abnormal vertebral size / shape
- Advanced bone age
- Carpal bones fusion / synostosis
- Conductive deafness / hearing loss
- Elbow dislocation
- High vaulted / narrow palate
- Long hand / arachnodactyly
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Scoliosis
- Sensorineural deafness / hearing loss
- Thumb hypoplasia / aplasia / absence
- Ulnar deviation of fingers

Occasional
- Atrioventricular canal
- Autosomal dominant inheritance
- Craniostenosis / craniosynostosis / sutural synostosis
- Larynx / laryngeal stenosis / atresia
- Tracheal atresia / stenosis
- Ureteral stenosis / narrowing
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis


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
- Retinitis pigmentosa / retinal pigmentary changes
- Sepsis severe / septicemia
- Skin tumors / lumps / epidermal cysts
- Thoracic / chest pain