ODCs

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3 OMIM references -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

1 OMIM reference -
1 associated gene
10 signs/symptoms

Autosomal dominant macrothrombocytopenia

Ehlers-Danlos syndrome type 7B


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ITGB3 ITGA2B	(0.55) (0.52)	COL1A2 COL1A2

Citations in the biomedical literature:

Autosomal dominant macrothrombocytopenia		Ehlers-Danlos syndrome type 7B
	Synonym(s): (no synonyms)		Synonym(s): - EDS VIIB

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - 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: 3 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
Autosomal dominant macrothrombocytopenia
(no data available)