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Chilblain lupus
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Bruck syndrome
2 OMIM references -
2 associated genes
15 signs/symptoms
Chilblain lupus
Bruck syndrome

SAMHD1
(UniProt - OMIM)
 FKBP10
(UniProt - OMIM)
TREX1
(UniProt - OMIM)
 PLOD2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SAMHD1
(0.63)
PLOD2


Citations in the biomedical literature:


Chilblain lupus
SAMHD1 TREX1
Bruck syndrome
FKBP10 PLOD2



Chilblain lupus
Bruck syndrome

Synonym(s):
(no synonyms)

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):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
(no data available)
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:
2 OMIM references -
1 MeSH reference: C535924
External references:
2 OMIM references -
No MeSH references
Bruck syndrome

Very frequent
- Arthrogryposis
- Autosomal recessive inheritance
- 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


Chilblain lupus

(no data available)