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8 OMIM references -
6 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
22 signs/symptoms
Familial melanoma
ADULT syndrome

CDK4 TP63
CDKN2A
CDKN2B
CDKN2D
MC1R
TERT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CDKN2A
(0.68)
TP63



Citations in the biomedical literature:


Familial melanoma
CDK4 CDKN2A CDKN2B CDKN2D MC1R TERT

ADULT syndrome
TP63



Familial melanoma
ADULT syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Acro-dermato-ungual-lacrimal-tooth syndrome
- Pigment anomaly - ectrodactyly - hypodontia

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 eye disease
- Rare genetic disease
- Rare odontologic disease
- Rare skin 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 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
8 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538052


COMMON
SIGNS
- Dry / squaly skin / exfoliation
- Excessive freckling


Familial melanoma
ADULT syndrome

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

Frequent
- Anomalies of the lymphatic system
- 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


Very frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Fine hair
- Nails anomalies
- Oligodactyly / ectrodactyly of toes
- Pigmented naevi / naevus pigmentosus / lentigo
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Thin skin

Frequent
- Alopecia
- Breast tissue / mammary gland absence / aplasia
- Hypoplastic / absent nipples
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Tooth shape anomaly

Occasional
- Broad nose / nasal bridge
- Face / facial anomalies
- High nasal bridge