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Osteogenesis imperfecta type 4
6 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Generalized dominant dystrophic epidermolysis bullosa
1 OMIM reference -
1 associated gene
16 signs/symptoms
Osteogenesis imperfecta type 4
Generalized dominant dystrophic epidermolysis bullosa

COL1A1
(UniProt - OMIM)
 COL7A1
(UniProt - OMIM)
COL1A2
(UniProt - OMIM)
CRTAP
(UniProt - OMIM)
PPIB
(UniProt - OMIM)
SP7
(UniProt - OMIM)
TMEM38B
(UniProt - OMIM)
WNT1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
COL1A1
(0.75)
COL7A1


Citations in the biomedical literature:


Osteogenesis imperfecta type 4
COL1A1 COL1A2 CRTAP PPIB SP7 TMEM38B
WNT1
Generalized dominant dystrophic epidermolysis bullosa
COL7A1



Osteogenesis imperfecta type 4
Generalized dominant dystrophic epidermolysis bullosa

Synonym(s):
- OI type 4
Synonym(s):
- Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
- DDEB, Pasini and Cockayne-Touraine types
- DDEB, generalized
- DDEB-gen
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
1 MeSH reference: C536045
External references:
1 OMIM reference -
No MeSH references
Generalized dominant dystrophic epidermolysis bullosa

Very frequent
- Abnormal fingernails
- Abnormal toenails
- Autosomal dominant inheritance
- Oral mucosa disease / cheilitis
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Irregular / patchy skin hypopigmentation
- Multiple caries
- Skin hypoplasia / aplasia / atrophy

Occasional
- Anaemia
- Corneal ulceration / perforation
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Follicular / erythematous / edematous papules / milium
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis


Osteogenesis imperfecta type 4

(no data available)