Details of Disease | DrugMAP

General Information of Disease (ID: DISD8IKM)

Disease Name	Arthrogryposis, distal, type 1A
Synonyms	arthrogryposis, distal, type 1; arthrogryposis, distal, type 2B4; arthrogryposis multiplex congenita, distal, type 1; arthrogryposis multiplex congenita; DA1A; AMC; arthrogryposis, distal, type 1A
Disease Hierarchy	DISOW5Q1: Digitotalar dysmorphism DISD8IKM: Arthrogryposis, distal, type 1A
Disease Identifiers	MONDO ID MONDO_0007157 MESH ID C535378 UMLS CUI C0220662 OMIM ID 108120 MedGen ID 113099 SNOMED CT ID 715314008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH3	OTOCCGEB	Limited	GermlineCausalMutation	[1]
MYBPC1	OTRPN93S	Strong	Biomarker	[2]
NALCN	OTWY7DS0	Strong	GermlineCausalMutation	[3]
TNNI2	OTGGZFSC	Strong	Genetic Variation	[4]
TNNT3	OT4C498E	Strong	GermlineCausalMutation	[1]
TPM2	OTA1L0P8	Strong	Autosomal dominant	[5]
FBN2	OT3KYJQL	Definitive	Biomarker	[6]
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⏷ Show the Full List of 7 DOT(s)

References

1	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.
2	A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.Gene. 2013 Sep 25;527(2):630-5. doi: 10.1016/j.gene.2013.06.082. Epub 2013 Jul 11.
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.
4	A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.Am J Med Genet A. 2016 Jan;170A(1):135-41. doi: 10.1002/ajmg.a.37391. Epub 2015 Sep 16.
5	Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. FASEB J. 2007 Mar;21(3):896-905. doi: 10.1096/fj.06-6899com. Epub 2006 Dec 27.
6	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.