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: 2

Epidermolysis bullosa simplex, Dowling-Meara type

1 OMIM reference -
2 associated genes
18 signs/symptoms

Ankyloblepharon - ectodermal defects - cleft lip/palate

Epidermolysis bullosa simplex, Dowling-Meara type

TP63	(UniProt - OMIM)		KRT14	(UniProt - OMIM)
			KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TP63	(0.72)	KRT5

Citations in the biomedical literature:

Ankyloblepharon - ectodermal defects - cleft lip/palate		Epidermolysis bullosa simplex, Dowling-Meara type
	Synonym(s): - AEC syndrome - Hay-Wells syndrome		Synonym(s): - Epidermolysis bullosa simplex, herpetiformis

	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 genetic disease - Rare skin disease

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

	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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Palmoplantar hyperkeratosis / keratoderma

Ankyloblepharon - ectodermal defects - cleft lip/palate		Epidermolysis bullosa simplex, Dowling-Meara type
	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 - 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 - Abnormal fingernails - Anomalies of skin, subcutaneous tissue and mucosae - Mucosal / cutaneous hemorrhage - Nails anomalies - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Hyperkeratosis / ainhum / hyperkeratotic skin fissures Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Abnormal scarring / cheloids / hypertrophic scars - Constipation - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Failure to thrive / difficulties for feeding in infancy / growth delay - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Skin hypoplasia / aplasia / atrophy - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)