Details of Disease

General Information of Disease (ID: DISU931I)

• Disease Name: Lethal congenital contracture syndrome 3
• Synonyms: multiple contracture syndrome, Israeli Bedouin type B; lethal congenital contracture syndrome caused by mutation in PIP5K1C; Israeli Bedouin type B multiple contracture syndrome; lethal congenital contracture syndrome type 3; PIP5K1C lethal congenital contracture syndrome; lethal congenital contracture syndrome 3; LCCS3; lethal congenital contractural syndrome 3
• Definition: Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.
• Disease Hierarchy:
  DIS489GT: Lethal congenital contracture syndrome
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DISU931I: Lethal congenital contracture syndrome 3
• Disease Identifiers:
  MONDO ID: MONDO_0012656
  MESH ID: C566961
  UMLS CUI: C1969655
  OMIM ID: 611369
  MedGen ID: 369555
  Orphanet ID: 137783
  SNOMED CT ID: 715420005

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
MYBPC1	OTRPN93S	Supportive	Autosomal recessive	[1]
PIP5K1C	OT3LPG1R	Strong	Autosomal recessive	[2]

References

• [1] Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. Hum Mutat. 2012 Oct;33(10):1435-8. doi: 10.1002/humu.22122. Epub 2012 Jun 7.
• [2] Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet. 2007 Sep;81(3):530-9. doi: 10.1086/520771. Epub 2007 Jul 24.