Details of Disease | DrugMAP

General Information of Disease (ID: DISOCVMC)

Disease Name	Sheldon-hall syndrome
Synonyms	Freeman Sheldon variant; arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities; arthrogryposis multiplex congenita distal type 2B; arthrogryposis multiplex congenita distal type II with craniofacial abnormalities; Freeman Sheldon syndrome, variant; arthrogryposis multiplex congenita, distal, type 2B; Sheldon-Hall syndrome; arthrogryposis, distal, type 2B; DA2B; Freeman-Sheldon syndrome variant; distal arthrogryposis type 2B
Definition	Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
Disease Hierarchy	DIS3QIEL: Distal arthrogryposis DISOCVMC: Sheldon-hall syndrome
Disease Identifiers	MONDO ID MONDO_0011128 MESH ID C538400 UMLS CUI C1834523 MedGen ID 320374 Orphanet ID 1147 SNOMED CT ID 715216008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH3	OTOCCGEB	Supportive	Autosomal dominant	[1]
NALCN	OTWY7DS0	Supportive	Autosomal dominant	[2]
TNNI2	OTGGZFSC	Supportive	Autosomal dominant	[1]
TNNT3	OT4C498E	Supportive	Autosomal dominant	[1]
TPM2	OTA1L0P8	Supportive	Autosomal dominant	[1]
HIF3A	OTPWAAMC	Strong	Altered Expression	[3]
PIEZO2	OTQ7AT38	Strong	GermlineCausalMutation	[4]
FBN2	OT3KYJQL	Definitive	Biomarker	[5]
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⏷ Show the Full List of 8 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	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.
3	A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.PLoS Genet. 2014 Oct 23;10(10):e1004589. doi: 10.1371/journal.pgen.1004589. eCollection 2014 Oct.
4	Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):4667-72. doi: 10.1073/pnas.1221400110. Epub 2013 Mar 4.
5	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.