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2 OMIM references -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Lattice corneal dystrophy type I
Ehlers-Danlos syndrome type 7B

TGFBI COL1A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TGFBI
(0.62)
COL1A2



Citations in the biomedical literature:


Lattice corneal dystrophy type I
TGFBI
Ehlers-Danlos syndrome type 7B
COL1A2



Lattice corneal dystrophy type I
Ehlers-Danlos syndrome type 7B

Synonym(s):
- Biber-Haab-Dimmer dystrophy
- Classic lattice corneal dystrophy
- LCD1
- LCDI
- Lattice corneal dystrophy type 1

Synonym(s):
- EDS VIIB

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Ehlers-Danlos syndrome type 7B

Very frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Muscle weakness / flaccidity
- Short stature / dwarfism / nanism

Frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Herniae
- Rippled skin

Occasional
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets


Lattice corneal dystrophy type I

(no data available)