Details of Disease

General Information of Disease (ID: DISKYE23)

Disease Name Arthrogryposis, distal, with impaired proprioception and touch
Synonyms arthrogryposis, distal, with impaired proprioception and touch; DAIPT; DAIPT; arthrogryposis, distal, with impaired proprioception and touch
Disease Hierarchy
DIS3QIEL: Distal arthrogryposis
DISKYE23: Arthrogryposis, distal, with impaired proprioception and touch
Disease Identifiers
MONDO ID
MONDO_0014941
UMLS CUI
C4310692
OMIM ID
617146
MedGen ID
934659

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PIEZO2 OTQ7AT38 Definitive Autosomal recessive [1]
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References

1 The Role of PIEZO2 in Human Mechanosensation. N Engl J Med. 2016 Oct 6;375(14):1355-1364. doi: 10.1056/NEJMoa1602812. Epub 2016 Sep 21.