Details of Disease

General Information of Disease (ID: DISF9VP3)

• Disease Name: Spondylocarpotarsal synostosis syndrome
• Synonyms: Synspondylism, congenital; Synspondylism congenital; scoliosis, congenital, with unilateral unsegmented Bar; scoliosis, congenital with unilateral unsegmented bar; congenital scoliosis with unilateral unsegmented bar; spondylocarpotarsal synostosis syndrome; spondylocarpotarsal synostosis; vertebral fusion with carpal coalition; SCT; Synspondylism; congenital synspondylism; spondylocarpotarsal syndrome
• Definition: Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.
• Disease Hierarchy:
  DISZ8ZFO: Spondylodysplastic dysplasia
  DISP0R2U: Filamin-related bone disorder
  DISVKAZS: Bone development disease
  DISF9VP3: Spondylocarpotarsal synostosis syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010094
  MESH ID: C535780
  UMLS CUI: C1848934
  OMIM ID: 272460
  MedGen ID: 341339
  Orphanet ID: 3275
  SNOMED CT ID: 702351004

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
SCT	TTOBVIN	Strong	Biomarker	[1]
CS	TTZA6B3	Definitive	Altered Expression	[2]

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH3	OTOCCGEB	Supportive	Autosomal recessive	[3]
EXOC2	OT5QG1WG	Strong	Genetic Variation	[4]
NIPSNAP3B	OTHMMYD5	Strong	Biomarker	[4]
SERBP1	OTZVSU0X	Strong	Genetic Variation	[4]
TMEM175	OT6DUIYC	Strong	Altered Expression	[4]
ADI1	OT8IOD03	Definitive	Genetic Variation	[5]
FLNB	OTPCOYL6	Definitive	Autosomal recessive	[6]
HBG2	OT4J48JJ	Definitive	Genetic Variation	[7]
RFLNA	OT6GS3XQ	Definitive	Genetic Variation	[8]
TNNI2	OTGGZFSC	Definitive	Genetic Variation	[3]
TPM2	OTA1L0P8	Definitive	Genetic Variation	[3]

References

• [1] Advancing the Multi-Informant Assessment of Sluggish Cognitive Tempo: Child Self-Report in Relation to Parent and Teacher Ratings of SCT and Impairment.J Abnorm Child Psychol. 2019 Jan;47(1):35-46. doi: 10.1007/s10802-018-0436-4.
• [2] Effects of regular physical activity on skeletal muscle structural, energetic, and microvascular properties in carriers of sickle cell trait.J Appl Physiol (1985). 2012 Aug 15;113(4):549-56. doi: 10.1152/japplphysiol.01573.2011. Epub 2012 Jun 14.
• [3] Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. Eur J Hum Genet. 2016 Dec;24(12):1746-1751. doi: 10.1038/ejhg.2016.84. Epub 2016 Jul 6.
• [4] Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.PLoS One. 2018 Jan 2;13(1):e0189498. doi: 10.1371/journal.pone.0189498. eCollection 2018.
• [5] Association of sickle cell trait with chronic kidney disease and albuminuria in African Americans.JAMA. 2014 Nov 26;312(20):2115-25. doi: 10.1001/jama.2014.15063.
• [6] Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. Am J Med Genet A. 2008 May 1;146A(9):1230-3. doi: 10.1002/ajmg.a.32303.
• [7] Knowledge and Awareness of Sickle Cell Trait Among Young African American Adults.West J Nurs Res. 2017 Sep;39(9):1222-1239. doi: 10.1177/0193945916665089. Epub 2016 Aug 22.
• [8] Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.J Hum Genet. 2019 May;64(5):467-471. doi: 10.1038/s10038-019-0581-9. Epub 2019 Feb 22.