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Infantile systemic hyalinosis information


Infantile systemic hyalinosis
Other namesJuvenile systemic hyalinosis
Infantile systemic hyalinosis is inherited in an autosomal recessive manner.
SpecialtyDermatology, medical genetics Edit this on Wikidata

Infantile systemic hyalinosis is an allelic autosomal-recessive condition characterized by multiple skin nodules, hyaline deposition, gingival hypertrophy, osteolytic bone lesions and joint contractures.[1]: 606 

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

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Infantile systemic hyalinosis

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Infantile systemic hyalinosis is an allelic autosomal-recessive condition characterized by multiple skin nodules, hyaline deposition, gingival hypertrophy...

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List of skin conditions

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hemangiopericytoma) Infantile myofibromatosis (congenital generalized fibromatosis, congenital multicentric fibromatosis) Infantile systemic hyalinosis (juvenile...

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ANTXR2

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gene. Mutations in ANTXR2 are associated with infantile systemic hyalinosis and juvenile systemic hyalinosis, both autosomal recessive disorders. Biallelic...

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Hereditary gingival fibromatosis

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syndrome, Rutherford syndrome, juvenile hyaline fibromatosis, systemic infantile hyalinosis, and mannosidosis Some unknown causes Genetic linkage studies...

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List of OMIM disorder codes

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606438; JPH3 Hutchinson–Gilford progeria syndrome; 176670; LMNA Hyalinosis, infantile systemic; 236490; ANTXR2 Hydatidiform mole; 231090; NALP7 Hydranencephaly...

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