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disease: Hyaline fibromatosis syndrome

id9509
nameHyaline fibromatosis syndrome
descriptionInherited systemic hyalinosis is characterized by hyaline deposits in the papillary dermis and other tissues. It typically presents at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches over bony prominences of the joints. Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. Complications of protein-losing enteropathy and failure to thrive can be life threatening. Cognitive development is normal. Many children with the severe form (previously called infantile systemic hyalinosis) die in early childhood; some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood.
variant-disease NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg) AND Hyaline fibromatosis syndrome
NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp) AND Hyaline fibromatosis syndrome
NM_058172.6(ANTXR2):c.1395G>A (p.Arg465=) AND Hyaline fibromatosis syndrome
NM_058172.6(ANTXR2):c.-130G>A AND Hyaline fibromatosis syndrome
NM_058172.6(ANTXR2):c.637-10del AND Hyaline fibromatosis syndrome
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