Details of Disease

General Information of Disease (ID: DISCSNIE)

• Disease Name: Hereditary mucoepithelial dysplasia
• Synonyms: mucoepithelial dysplasia, hereditary; Urban-Schosser-Spohn syndrome; HMD
• Definition: A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.
• Disease Hierarchy:
  DIS9YPUQ: Dermatological disease
  DISCSNIE: Hereditary mucoepithelial dysplasia
• Disease Identifiers:
  MONDO ID: MONDO_0008017
  MESH ID: C536476
  UMLS CUI: C1274795
  OMIM ID: 158310
  MedGen ID: 220887
  Orphanet ID: 1839
  SNOMED CT ID: 403442005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SREBF1	TTER0UB	Strong	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SREBF1	OTWBRPAI	Strong	Autosomal dominant	[1]

References

• [1] Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. Am J Hum Genet. 2020 Jul 2;107(1):34-45. doi: 10.1016/j.ajhg.2020.05.006. Epub 2020 Jun 3.