ODCs

Cytoscape Web

Click node...

Familial melanoma

8 OMIM references -
6 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Cleidocranial dysplasia

2 OMIM references -
1 associated gene
40 signs/symptoms

Familial melanoma

Cleidocranial dysplasia

CDK4	(UniProt - OMIM)		RUNX2	(UniProt - OMIM)
CDKN2A	(UniProt - OMIM)
CDKN2B	(UniProt - OMIM)
CDKN2D	(UniProt - OMIM)
MC1R	(UniProt - OMIM)
TERT	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CDK4	(0.63)	RUNX2

Citations in the biomedical literature:

Familial melanoma		Cleidocranial dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Cleidocranial dysostosis

	Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic 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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 8 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D002973


COMMON SIGNS	- Autosomal dominant inheritance

Familial melanoma		Cleidocranial dysplasia
	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 - Breast neoplasm / tumor / carcinoma / cancer - Estomach / gastric neoplasm / tumor / carcinoma / cancer - Extrapyramidal syndrome - Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer - Retinopathy		Very frequent - Anomalies of teeth and dentition - Clavicle absent / abnormal - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Frontal bossing / prominent forehead - High vaulted / narrow palate - Hypertelorism - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Narrow / sloping shoulders - Repeat respiratory infections - Short stature / dwarfism / nanism - Supernumerary teeth / polyodontia - Wormian bones Frequent - Anomalies of ear and hearing - Anomalies of the ribs - Chronic / relapsing otitis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dental malocclusion - Hearing loss / hypoacusia / deafness - Narrow rib cage / thorax - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Poorly ossified skull / calvarium - Sacro-coccyx / sacrum anomaly - Short hand / brachydactyly - Sloping forehead - Small face Occasional - Apnea / sleep apnea - Brachycephaly / flat occiput - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal anomaly - Genu valgum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Motor deficit / trouble - Mutiple fractures / bone fragility - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Scoliosis - Tapered fingers - Thumb anomalies (excluding hypoplasia)