Details of Disease

General Information of Disease (ID: DISSJUS7)

• Disease Name: Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
• Synonyms: hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis; hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome; poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement; POIKTMP; poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis; POIKTMP syndrome
• Definition: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.
• Disease Hierarchy:
  DISGGAGJ: Respiratory disease
  DISE8TL8: Hereditary poikiloderma
  DISSCALK: Hereditary skin disorder
  DISSJUS7: Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
• Disease Identifiers:
  MONDO ID: MONDO_0014310
  UMLS CUI: C3810325
  OMIM ID: 615704
  MedGen ID: 816655
  Orphanet ID: 221043

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FAM111B	OT9IQ9NV	Strong	Autosomal dominant	[1]

References

• [1] Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet. 2013 Dec 5;93(6):1100-7. doi: 10.1016/j.ajhg.2013.10.013. Epub 2013 Nov 21.