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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
Peutz-Jeghers syndrome
1 OMIM reference -
1 associated gene
32 signs/symptoms
Ankyloblepharon - ectodermal defects - cleft lip/palate
Peutz-Jeghers syndrome

TP63
(UniProt - OMIM)
 STK11
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TP63
(0.63)
STK11


Citations in the biomedical literature:


Ankyloblepharon - ectodermal defects - cleft lip/palate
TP63
Peutz-Jeghers syndrome
STK11



Ankyloblepharon - ectodermal defects - cleft lip/palate
Peutz-Jeghers syndrome

Synonym(s):
- AEC syndrome
- Hay-Wells syndrome
Synonym(s):
- Hamartomatous intestinal polyposis
- PJS
- Polyps and spots syndrome
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 developmental defect during embryogenesis
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic 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: 1-9 / 100 000
Average age onset: adolescence / young
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D010580
COMMON
SIGNS 		- Autosomal dominant inheritance

Ankyloblepharon - ectodermal defects - cleft lip/palate
Peutz-Jeghers syndrome

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
- Abnormal pigmentation of the oral mucosa / gingivae
- Digestive neoplasm / tumor / carcinoma / cancer
- Macules
- Pigmented naevi / naevus pigmentosus / lentigo

Frequent
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia

Occasional
- Abnormal nails colour / leukonychia / melanonychia
- Acute abdominal pain / colic
- Anaemia
- Anus / rectum anomalies
- Bladder and ureter anomalies
- Breast neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Esophageal neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Extrahepatic biliary tract / gallbladder neoplasm / tumor / carcinoma / cancer
- Head and neck neoplasm / tumor / carcinoma / cancer
- Intestinal obstruction / ileus
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Mesenteric / intestinal infarction
- Nasal polyposis
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Neoplasms / tumors
- Nose / nasal sinus neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Rectum / rectal neoplasm / tumor / carcinoma / cancer
- Small bowel neoplasm / tumor / carcinoma / cancer
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer