Details of Disease

General Information of Disease (ID: DISADE3A)

• Disease Name: Keppen-Lubinsky syndrome
• Synonyms: KEPPEN-Lubinsky syndrome; KPLBS; generalised lipodystrophy-progeroid features-severe intellectual disability syndrome; Keppen-Lubinsky syndrome; generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
• Disease Hierarchy:
  DIS1BE1A: Hereditary lipodystrophy
  DISADE3A: Keppen-Lubinsky syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013572
  UMLS CUI: C3279800
  OMIM ID: 614098
  MedGen ID: 481430
  Orphanet ID: 435628
  SNOMED CT ID: 1220589007

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
KCNJ6	TTTIBVP	Limited	Genetic Variation	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
KCNJ6	DT7UC53	Strong	Autosomal dominant	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH6	OT3YNCH1	Moderate	Autosomal dominant	[3]
KCNJ6	OTDE1FT0	Strong	Autosomal dominant	[2]

References

• [1] Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.Neuroscience. 2018 Aug 1;384:152-164. doi: 10.1016/j.neuroscience.2018.05.031. Epub 2018 May 29.
• [2] Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses. Clin Genet. 2023 Jan;103(1):103-108. doi: 10.1111/cge.14226. Epub 2022 Sep 15.
• [3] Spatial distribution of "tissue-specific" antigens in the developing human heart and skeletal muscle. II. An immunohistochemical analysis of myosin heavy chain isoform expression patterns in the embryonic heart. Anat Rec. 1991 Mar;229(3):355-68. doi: 10.1002/ar.1092290309.