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hyaline fibromatosis syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Uniprot Description An autosomal recessive syndrome characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Disease severity is variable. Some individuals manifest symptoms in infancy and have additional visceral or systemic involvement. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to early death. Surviving children may suffer from severely reduced mobility due to joint contractures. Other patients have later onset of a milder disorder affecting only the face and digits.
Mondo Term and Equivalent IDs
MONDO:0009229:  hyaline fibromatosis syndrome
DOID:0111669: 
GARD:0006807: 
Orphanet:498474: 
UMLS:C2745948: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)