Details of Disease

General Information of Disease (ID: DIS9NDA3)

• Disease Name: MORM syndrome
• Synonyms: mental retardation, truncal obesity, retinal dystrophy and micropenis; MORMS; intellectual disability, truncal obesity, retinal dystrophy and micropenis; intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome; mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome; mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome; intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome; MORM syndrome; mental retardation, truncal obesity, retinal dystrophy, and micropenis
• Definition: MORM syndrome is characterized by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS9NDA3: MORM syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0012423
  MESH ID: C536984
  UMLS CUI: C1857802
  OMIM ID: 610156
  MedGen ID: 341851
  Orphanet ID: 75858
  SNOMED CT ID: 715628009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BBS5	OTFWF9N1	Strong	Genetic Variation	[1]
INPP5E	OTJF2AZ9	Definitive	Autosomal recessive	[2]

References

• [1] BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.Ann Hum Genet. 2019 Nov;83(6):477-482. doi: 10.1111/ahg.12336. Epub 2019 Jun 7.
• [2] INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. Nat Genet. 2009 Sep;41(9):1027-31. doi: 10.1038/ng.427. Epub 2009 Aug 9.