Cytoscape Web
Click node...


8 OMIM references -
6 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Familial melanoma
Beckwith-Wiedemann syndrome due to CDKN1C mutation

CDK4 CDKN1C
CDKN2A
CDKN2B
CDKN2D
MC1R
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDK4
(0.65)
CDKN1C



Citations in the biomedical literature:


Familial melanoma
CDK4 CDKN2A CDKN2B CDKN2D MC1R TERT

Beckwith-Wiedemann syndrome due to CDKN1C mutation
CDKN1C



Familial melanoma
Beckwith-Wiedemann syndrome due to CDKN1C mutation

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare renal disease

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
8 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

Familial melanoma

Very frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Melanoma

Frequent
- Anomalies of the lymphatic system
- Dry / squaly skin / exfoliation
- Excessive freckling
- Hair and scalp anomalies

Occasional
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Extrapyramidal syndrome
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Retinopathy


Beckwith-Wiedemann syndrome due to CDKN1C mutation

(no data available)