ODCs

Click node...

1 OMIM reference -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

2 OMIM references -
2 associated genes
15 signs/symptoms

Lethal acantholytic epidermolysis bullosa

Bruck syndrome

DSP	(UniProt - OMIM)		FKBP10	(UniProt - OMIM)
JUP	(UniProt - OMIM)		PLOD2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JUP	(0.63)	PLOD2

Citations in the biomedical literature:

Lethal acantholytic epidermolysis bullosa		Bruck syndrome
	Synonym(s): - LAEB		Synonym(s): - Osteogenesis imperfecta - congenital joint contractures

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	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 recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535493		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance

Lethal acantholytic epidermolysis bullosa		Bruck syndrome
	Very frequent - Absent / small fingernails / anonychia of hands - Alopecia - Chronic skin infection / ulcerations / ulcers / cancrum - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Premature eruption of teeth / natal teeth - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Cardiomyopathy / hypertrophic / dilated - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis		Very frequent - Arthrogryposis - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Restricted joint mobility / joint stiffness / ankylosis - Short stature / dwarfism / nanism - Wormian bones Frequent - Kyphosis - Pterygion - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Talipes-varus / metatarsal varus - Triangular face Occasional - Bowed diaphysis / diaphyses / long bones - Platyspondyly