Details of Disease

General Information of Disease (ID: DISVK1D4)

• Disease Name: Autosomal recessive multiple pterygium syndrome
• Synonyms: multiple pterygium syndrome; multiple pterygium syndrome Escobar type; pterygium syndrome; pterygium universale; multiple pterygium syndrome, ESCOBAR variant; multiple pterygium syndrome nonlethal type; pterygium colli syndrome; multiple pterygium syndrome, Nonlethal type; pterygium Universale; multiple pterygium syndrome, autosomal recessive; autosomal recessive multiple pterygium syndrome; Escobar variant multiple pterygium syndrome; autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome
• Definition: A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISCPWH9: Autosomal recessive disease
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DISK8Z6W: Multiple pterygium syndrome
  DISVK1D4: Autosomal recessive multiple pterygium syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009926
  MESH ID: C537377
  UMLS CUI: C0265261
  OMIM ID: 265000
  MedGen ID: 82696
  Orphanet ID: 2990
  SNOMED CT ID: 205819008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PTPN11	TT7WUAV	Strong	Biomarker	[1]
RYR1	TTU5CIX	Strong	Biomarker	[2]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GBE1	OTK2N05B	Limited	Genetic Variation	[3]
MYH3	OTOCCGEB	Supportive	Autosomal recessive	[4]
RAPSN	OTGMSWDQ	Strong	Biomarker	[5]
TPM2	OTA1L0P8	Strong	Biomarker	[6]
CHRNG	OTXC2UR7	Definitive	Autosomal recessive	[7]

References

• [1] Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.Nat Med. 2004 Aug;10(8):849-57. doi: 10.1038/nm1084. Epub 2004 Jul 25.
• [2] Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum. BMC Musculoskelet Disord. 2016 Mar 1;17:109. doi: 10.1186/s12891-016-0947-5.
• [3] Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.Neuromuscul Disord. 2013 Feb;23(2):165-9. doi: 10.1016/j.nmd.2012.11.005. Epub 2012 Dec 3.
• [4] Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24.
• [5] Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am J Hum Genet. 2008 Jan;82(1):222-7. doi: 10.1016/j.ajhg.2007.09.016.
• [6] 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.
• [7] Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet. 2006 Aug;79(2):303-12. doi: 10.1086/506257. Epub 2006 Jun 20.