Lethal restrictive dermopathy |
Familial pancreatic carcinoma |
LMNA | BRCA1 | |||
ZMPSTE24 | BRCA2 | |||
CDKN2A | ||||
KRAS | ||||
MANF | ||||
PALB2 | ||||
SMAD4 | ||||
TP53 |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
LMNA LMNA LMNA | (0.06) (0.06) (0.06) | BRCA1 BRCA2 PALB2 | |
Citations in the biomedical literature:
Lethal restrictive dermopathy |
Familial pancreatic carcinoma |
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Synonym(s): (no synonyms)
| Synonym(s): - Familial pancreatic cancer | ||
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease | Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease | ||
Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -
| Classification (ICD10): - Neoplasms -
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Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant | Epidemiological data: (no data available)
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External references: 1 OMIM reference -
No MeSH references | External references: 5 OMIM references - 1 MeSH reference: C535837 | ||
Lethal restrictive dermopathy | |
Very frequent - Absent / decreased lashes - Anomalies of teeth and dentition - Autosomal recessive inheritance - Early death / lethality - Ectropion / entropion / eyelid eversion - External ear anomalies - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Large fontanelle / delayed fontanelle closure - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Mouth held open - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Rough trabeculation of bone - Short / small nose - Stillbirth / neonatal death - Thick skin / pachydermia / orange skin - Tight skin / lack of elasticity Frequent - Adrenal glands anomalies - Anomalies of chest / thorax / trunk - Anomalies of eyelids, eyelashes and lacrimal system - Atrial septal defect / interauricular communication - Bladder and ureter anomalies - Blepharophimosis / short palpebral fissures - Clavicle absent / abnormal - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Complete claw hand / camptodactyly of all fingers - Diaphyseal anomaly - Eyebrows anomalies - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypospadias / epispadias / bent penis - Kyphosis - Lanugo - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Patent ductus arteriosus - Polyhydramnios - Scoliosis Occasional - Aortic root dilatation / dilation / aneurysm - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus | |
Familial pancreatic carcinoma | |
(no data available) |