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Thiel-Behnke corneal dystrophy

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Ehlers-Danlos syndrome type 7B

1 OMIM reference -
1 associated gene
10 signs/symptoms

Thiel-Behnke corneal dystrophy

Ehlers-Danlos syndrome type 7B

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Thiel-Behnke corneal dystrophy		Ehlers-Danlos syndrome type 7B
	Synonym(s): - Anterior limiting membrane dystrophy type II - Corneal dystrophy of Bowman layer type II - Curly fiber corneal dystrophy - Honeycomb corneal dystrophy - TBCD - Waardenburg-Jonker corneal dystrophy		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: adolescence / young 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: 1 OMIM reference - 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
Thiel-Behnke corneal dystrophy
(no data available)