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Sea-blue histiocytosis

1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Craniometaphyseal dysplasia

2 OMIM references -
2 associated genes
14 signs/symptoms

Sea-blue histiocytosis

Craniometaphyseal dysplasia

APOE	(UniProt - OMIM)		ANKH	(UniProt - OMIM)
			GJA1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	APOE	(0.63)	ANKH

Citations in the biomedical literature:

Sea-blue histiocytosis		Craniometaphyseal dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - CMD

	Classification (Orphanet): - Rare genetic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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

Sea-blue histiocytosis		Craniometaphyseal dysplasia
	Very frequent - Blepharitis / eyelid inflammation - Cutaneous edema - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hepatomegaly / liver enlargement (excluding storage disease) - Mediastinal / hilar adenopathies - Purpura / petichiae - Splenomegaly - Subcutaneous nodules / lipomas / tumefaction / swelling - Thrombocytopenia / thrombopenia Frequent - Lung / pulmonary infiltrates Occasional - Irregular / in bands / reticular skin hyperpigmentation - Retinopathy		Very frequent - Autosomal dominant inheritance - Broad nasal root - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Depressed nasal bridge - Hypertelorism - Metaphyseal anomaly - Osteosclerosis / osteopetrosis / bone condensation Frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Telecanthus / canthal dystopy Occasional - Conductive deafness / hearing loss - Cranial nerve anomalies - Facial palsy - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia