Details of Disease

General Information of Disease (ID: DISQP8V9)

• Disease Name: Juvenile hyaline fibromatosis
• Synonyms: mesenchymal dysplasia; Puretic syndrome; Molluscum fibrosum; Murray-Puretic-Drescher syndrome
• Definition: Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis.
• Disease Hierarchy:
  DISPLTKN: Bone neoplasm
  DISP2OHE: Soft tissue neoplasm
  DISH4B3H: Dermis tumor
  DISZAHF9: Hyaline fibromatosis syndrome
  DIS8I9FS: Hereditary disorder of connective tissue
  DISSCALK: Hereditary skin disorder
  DISQP8V9: Juvenile hyaline fibromatosis
• Disease Identifiers:
  MONDO ID: MONDO_0016071
  MESH ID: D057770
  UMLS CUI: C2745948
  MedGen ID: 411197
  Orphanet ID: 2028
  SNOMED CT ID: 238861002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ANTXR2	TTOD34I	Limited	Genetic Variation	[1]
MVD	TTE5J6X	Limited	Biomarker	[2]
CDA	TTQ12RK	moderate	Genetic Variation	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CES2	DETHCPD	moderate	Genetic Variation	[4]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANTXR2	OTOGFGOJ	Supportive	Autosomal recessive	[5]
ENOSF1	OT65D3ZK	moderate	Genetic Variation	[6]
MACF1	OTVIHD77	Strong	Genetic Variation	[7]
TSPAN33	OTH6C0WU	Strong	Biomarker	[8]

References

• [1] Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.Orphanet J Rare Dis. 2019 Aug 27;14(1):209. doi: 10.1186/s13023-019-1183-5.
• [2] The long-term effects of microvascular decompression on social phobia and health-related quality of life in patients with hemifacial spasm: a 3-year prospective study.Acta Neurochir (Wien). 2019 Oct;161(10):2035-2042. doi: 10.1007/s00701-019-04023-y. Epub 2019 Jul 31.
• [3] A polymorphism in the cytidine deaminase promoter predicts severe capecitabine-induced hand-foot syndrome.Clin Cancer Res. 2011 Apr 1;17(7):2006-13. doi: 10.1158/1078-0432.CCR-10-1741. Epub 2011 Feb 16.
• [4] Standard versus continuous administration of capecitabine in metastatic breast cancer (GEICAM/2009-05): a randomized, noninferiority phase II trial with a pharmacogenetic analysis.Oncologist. 2015 Feb;20(2):111-2. doi: 10.1634/theoncologist.2014-0379. Epub 2015 Jan 19.
• [5] 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.
• [6] Evaluating the role of ENOSF1 and TYMS variants as predictors in fluoropyrimidine-related toxicities: An IPD meta-analysis.Pharmacol Res. 2020 Feb;152:104594. doi: 10.1016/j.phrs.2019.104594. Epub 2019 Dec 12.
• [7] Predictors of Hand-Foot Syndrome and Pyridoxine for Prevention of Capecitabine-Induced Hand-Foot Syndrome: A Randomized Clinical Trial.JAMA Oncol. 2017 Nov 1;3(11):1538-1545. doi: 10.1001/jamaoncol.2017.1269.
• [8] Electrical Stimulation of the Mesencephalic Locomotor Region Attenuates Neuronal Loss and Cytokine Expression in the Perifocal Region of Photothrombotic Stroke in Rats.Int J Mol Sci. 2019 May 11;20(9):2341. doi: 10.3390/ijms20092341.