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1 OMIM reference -
2 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
3 OMIM references -
4 associated genes
25 signs/symptoms
Desmoid tumor
Pachyonychia congenita

APC KRT16
CTNNB1 KRT17
KRT6A
KRT6B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APC
(0.63)
KRT17



Citations in the biomedical literature:


Desmoid tumor
APC CTNNB1
Pachyonychia congenita
KRT16 KRT17 KRT6A KRT6B



Desmoid tumor
Pachyonychia congenita

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

Synonym(s):
- PC

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D053549


COMMON
SIGNS
- Skin tumors / lumps / epidermal cysts


Desmoid tumor
Pachyonychia congenita

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
- Thoracic / chest pain


Very frequent
- Abnormal nails colour / leukonychia / melanonychia
- Autosomal dominant inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Enanthema / aphtosa / aphta / leukoplakia
- Hair and scalp anomalies
- Hyperhidrosis / increased sweating
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Absent / small fingernails / anonychia of hands
- Anomalies of teeth and dentition
- Ichthyosis / ichthyosiform dermatitis
- Multiple caries
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Abnormal fingernails
- Alopecia
- Autosomal recessive inheritance
- Cataract / lens opacification
- Corneal dystrophy
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Laryngomalacia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction