Details of Disease | DrugMAP

General Information of Disease (ID: DISECEE3)

Disease Name	Infantile systemic hyalinosis
Definition	Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.
Disease Hierarchy	DISZAHF9: Hyaline fibromatosis syndrome DISECEE3: Infantile systemic hyalinosis
Disease Identifiers	MONDO ID MONDO_0016331 MESH ID D057770 UMLS CUI C5574678 MedGen ID 1803732 Orphanet ID 2176 SNOMED CT ID 238867003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANTXR2	OTOGFGOJ	Supportive	Autosomal recessive	[1]
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References

1	Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003 Oct;73(4):791-800. doi: 10.1086/378418. Epub 2003 Aug 21.