ODCs

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Ankyloblepharon - ectodermal defects - cleft lip/palate

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Familial melanoma

8 OMIM references -
6 associated genes
12 signs/symptoms

Ankyloblepharon - ectodermal defects - cleft lip/palate

Familial melanoma

TP63	(UniProt - OMIM)	CDK4	(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)	TP63	(0.68)	CDKN2A

Citations in the biomedical literature:

Ankyloblepharon - ectodermal defects - cleft lip/palate		Familial melanoma
	Synonym(s): - AEC syndrome - Hay-Wells syndrome		Synonym(s): (no synonyms)

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

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

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

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


COMMON SIGNS	- Autosomal dominant inheritance

Ankyloblepharon - ectodermal defects - cleft lip/palate		Familial melanoma
	Very frequent - Broad nose / nasal bridge - Coarse / thick hair - Cryptophthalmia / ankyloblepharon / synblepharon - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Lateral cleft lip / gingival cleft / paramedian nasal cleft Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Absent / decreased lashes - Absent / decreased / thin eyebrows - Anodontia / oligodontia / hypodontia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Diffuse / generalised skin hyperpigmentation / melanoderma - Enamel anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Palmoplantar hyperkeratosis / keratoderma - Tooth shape anomaly Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Autosomal recessive inheritance - Clinodactyly of fifth finger - Conductive deafness / hearing loss - Defect / anomaly of lacrimal system - Delayed dentition / eruption of teeth / lack of eruption of teeth - Prominent / bat ears - Supernumerary nipples / polythelia - Syndactyly of fingers / interdigital palm - Ventricular septal defect / interventricular communication		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