Details of Disease

General Information of Disease (ID: DISLEZQ9)

• Disease Name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
• Synonyms: eyelashes, long with intellectual disability; trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina; OMCS; trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina; eyelashes, long, with mental retardation; Oliver McFarlane syndrome; trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina; eyelashes, long, with intellectual disability; Oliver-McFarlane syndrome; long eyelashes-intellectual disability syndrome
• Definition: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.
• Disease Hierarchy:
  DISLRS4M: Ectodermal dysplasia
  DISLEZQ9: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010152
  MESH ID: C536554
  UMLS CUI: C1848745
  OMIM ID: 275400
  MedGen ID: 338532
  Orphanet ID: 3363
  SNOMED CT ID: 719944006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PNPLA6	TTWAQU2	Limited	Genetic Variation	[1]
PNPLA6	TTWAQU2	Supportive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PNPLA6	OTT5T45Q	Supportive	Autosomal recessive	[2]

References

• [1] Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.Nat Commun. 2015 Jan 9;6:5614. doi: 10.1038/ncomms6614.
• [2] Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5.