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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
17 signs/symptoms
Desmoid tumor
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

APC KRT14
CTNNB1 KRT5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APC
APC
(0.63)
(0.63)
KRT14
KRT5



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
KRT14 KRT5



Desmoid tumor
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

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

Synonym(s):
- Epidermolysis bullosa simplex, Koebner type
- Epidermolysis bullosa simplex, Köbner type
- Generalized EBS, non-Dowling-Meara type

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin 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: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535961

Desmoid tumor
Generalized epidermolysis bullosa simplex, non-Dowling-Meara 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
- 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 recessive inheritance
- Enanthema / aphtosa / aphta / leukoplakia
- Mucosal / cutaneous hemorrhage
- Muscle weakness / flaccidity
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Enamel anomaly
- Follicular / erythematous / edematous papules / milium
- Hyperhidrosis / increased sweating
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Nails anomalies
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Palmoplantar hyperkeratosis / keratoderma
- Ptosis
- Respiratory rhythm disorder

Occasional
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Myasthenia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction