Details of Disease

General Information of Disease (ID: DISOW5Q1)

• Disease Name: Digitotalar dysmorphism
• Synonyms: AMCD1; distal arthrogryposis type 1A (sub-type); distal arthrogryposis type 1B (sub-type); DA1; arthrogryposis multiplex congenita distal type 1; digitotalar dysmorphism; distal arthrogryposis type 1
• Definition: Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis.
• Disease Hierarchy:
  DIS3QIEL: Distal arthrogryposis
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DISOW5Q1: Digitotalar dysmorphism

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYBPC1	OTRPN93S	Supportive	Autosomal dominant	[1]
MYH3	OTOCCGEB	Supportive	Autosomal dominant	[2]
NALCN	OTWY7DS0	Supportive	Autosomal dominant	[3]
TNNI2	OTGGZFSC	Supportive	Autosomal dominant	[2]
TNNT3	OT4C498E	Supportive	Autosomal dominant	[2]
TPM2	OTA1L0P8	Supportive	Autosomal dominant	[2]

References

• [1] Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan 2.
• [2] Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet A. 2013 Mar;161A(3):550-5. doi: 10.1002/ajmg.a.35809. Epub 2013 Feb 7.
• [3] De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12.