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

TGFBI COL1A1
COL5A1
COL5A2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TGFBI
(0.63)
COL1A1



Citations in the biomedical literature:


Lattice corneal dystrophy type I
TGFBI
Ehlers-Danlos syndrome type 1
COL1A1 COL5A1 COL5A2



Lattice corneal dystrophy type I
Ehlers-Danlos syndrome type 1

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

Synonym(s):
- EDS I

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease
- Rare surgical thoracic 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: 1-9 / 100 000
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 -
1 MeSH reference: C536194

Ehlers-Danlos syndrome type 1

Very frequent
- Autosomal dominant inheritance
- Hyperextensible joints / articular hyperlaxity
- Joint dislocation / subluxation
- Skin hypoplasia / aplasia / atrophy
- Thin skin

Frequent
- Aortic dilatation / dilation
- Bruisability
- Diaphragmatic hernia / defect / agenesis
- Flat foot
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Genu recurvatum
- Hallux valgus
- Herniae
- Inguinal / inguinoscrotal / crural hernia
- Pectus carinatum
- Pectus excavatum
- Scoliosis
- Umbilical hernia
- Varices / varicous veins / venous insufficiency

Occasional
- Aortic dissection
- Bladder / vesical diverticulum
- Cardiac valvulopathy
- Chronic arterial hypertension
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Oral synechiae / abnormal frenulae
- Peritonitis / peritoneal abscess
- Recurrent urinary infections
- Retinal detachment
- Skin tumors / lumps / epidermal cysts


Lattice corneal dystrophy type I

(no data available)