Hyaline fibromatosis syndrome

Preferred Label : Hyaline fibromatosis syndrome;

Symbol : HFS;

CISMeF acronym : HFS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyalinosis, systemic;

Description : Hyaline fibromatosis syndrome is an autosomal recessive condition 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. The severity is variable. Some individuals present in infancy and have additional visceral or systemic involvement, which can lead to early death. These patients may show intractable diarrhea and increased susceptibility to infection. Other patients have later onset of a milder disorder affecting only the face and digits. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Histologic analysis of skin lesions shows proliferation of spindle-shaped cells forming strands in a homogeneous and hyaline eosinophilic extracellular material in the dermis (summary by Denadai et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the anthrax toxin receptor 2 gene (ANTXR2, 608041.0001);

Prefixed ID : #228600;

Details

Origin ID

228600;

UMLS CUI

C5574677;

Automatic exact mappings (from CISMeF team)
- Hyaline Fibromatosis Syndrome [MeSH Descriptor]
- Hyaline Fibromatosis Syndrome [MeSH concept]
- Hyaline fibromatosis syndrome [ORDO Disease]
- hyaline fibromatosis syndrome [DO Concept]
Currated CISMeF NLP mapping
- Hyaline fibromatosis syndrome (disorder) [SNOMED CT concept]
- Juvenile Hyaline Fibromatosis [NCIt concept]
- Juvenile hyaline fibromatosis [ICD-11 More detail]
- Juvenile hyaline fibromatosis [ORDO Disease]
- Juvenile hyaline fibromatosis (disorder) [SNOMED CT concept]
- juvenile hyaline fibromatosis [Disease (Nov.)]
DO Cross reference
- hyaline fibromatosis syndrome [DO Concept]
Genes related to phenotype
- Anthrax toxin receptor 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Coarse facial features [HPO term]
- Diarrhea [HPO term]
- Gingival fibromatosis [HPO term]
- Gingival overgrowth [HPO term]
- Osteolysis [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Progressive [HPO term]
- Progressive flexion contractures [HPO term]
- Recurrent infections [HPO term]
- Subcutaneous nodule [HPO term]
- Variable expressivity [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Infantile systemic hyalinosis [ORDO Disease]
- Juvenile hyaline fibromatosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyaline Fibromatosis Syndrome [MeSH Descriptor]
- Hyaline Fibromatosis Syndrome [MeSH concept]
- Hyaline fibromatosis syndrome (disorder) [SNOMED CT concept]
- Infantile systemic hyalinosis [ORDO Disease]
- Infantile systemic hyalinosis (disorder) [SNOMED CT concept]
- Juvenile Hyaline Fibromatosis [NCIt concept]
- Juvenile hyaline fibromatosis (disorder) [SNOMED CT concept]
- hyaline fibromatosis syndrome [DO Concept]
- infantile systemic hyalinosis [Disease (Nov.)]
- juvenile hyaline fibromatosis [Disease (Nov.)]

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