Details of Disease | DrugMAP

General Information of Disease (ID: DIS3QIEL)

Disease Name	Distal arthrogryposis
Synonyms	arthrogryposis multiplex congenita distal
Definition	A muscle tissue disease characterized by congenital joint contractures of hand and feet.
Disease Hierarchy	DISYKSRF: Genetic disease DISXAP3G: Muscle tissue disorder DISHEGN6: Arthrogryposis syndrome DIS3QIEL: Distal arthrogryposis
Disease Identifiers	MONDO ID MONDO_0019942 UMLS CUI C0265213 MedGen ID 120512 HPO ID HP:0005684 Orphanet ID 97120 SNOMED CT ID 24269006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIEZO2	OTQ7AT38	Limited	Genetic Variation	[1]
ECEL1	OTJ6GNUP	moderate	Genetic Variation	[2]
FBN2	OT3KYJQL	Strong	Biomarker	[3]
MYBPC1	OTRPN93S	Strong	Genetic Variation	[4]
MYH8	OT9F350W	Strong	Genetic Variation	[5]
NALCN	OTWY7DS0	Strong	Biomarker	[6]
SYNE1	OTSBSLUH	Strong	Altered Expression	[7]
TNNI2	OTGGZFSC	Strong	Genetic Variation	[8]
TPM2	OTA1L0P8	Strong	Genetic Variation	[8]
MYH3	OTOCCGEB	Definitive	Genetic Variation	[8]
TNNT3	OT4C498E	Definitive	Genetic Variation	[9]
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⏷ Show the Full List of 11 DOT(s)

References

1	Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms.Exp Ther Med. 2019 May;17(5):3518-3524. doi: 10.3892/etm.2019.7381. Epub 2019 Mar 13.
2	A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.Am J Med Genet A. 2018 Jun;176(6):1405-1410. doi: 10.1002/ajmg.a.38691. Epub 2018 Apr 16.
3	ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.PLoS One. 2010 Feb 9;5(2):e9137. doi: 10.1371/journal.pone.0009137.
4	Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.PLoS One. 2015 Feb 13;10(2):e0117158. doi: 10.1371/journal.pone.0117158. eCollection 2015.
5	Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.Brain. 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344.
6	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.
7	Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.Eur J Hum Genet. 2017 Feb;25(2):262-266. doi: 10.1038/ejhg.2016.144. Epub 2016 Oct 26.
8	Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.Mol Med Rep. 2020 Jan;21(1):438-444. doi: 10.3892/mmr.2019.10820. Epub 2019 Nov 15.
9	Nemaline myopathy and distal arthrogryposis associated with an autosomal recessiveTNNT3splice variant.Hum Mutat. 2018 Mar;39(3):383-388. doi: 10.1002/humu.23385. Epub 2018 Jan 13.