Details of Disease

General Information of Disease (ID: DISVE04H)

• Disease Name: Ehlers-Danlos syndrome, kyphoscoliotic type 1
• Synonyms: Ehlers-Danlos syndrome type 6A (formerly); kyphoscoliotic Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, type 6 A; Ehlers-Danlos syndrome oculoscoliotic type; Ehlers-Danlos syndrome type 6 (formerly); EDS 6 (formerly); EDSKSCL1; kyphoscoliotic EDS; Ehlers-Danlos syndrome, type VI; Ehlers-Danlos syndrome, kyphoscoliosis type; kEDS; Ehlers-Danlos syndrome, ocular-scoliotic type; Ehlers-Danlos syndrome, kyphoscoliotic type, 1; EDS VI; EDS6A, formerly; Ehlers-Danlos syndrome, type VIA, formerly; Ehlers-Danlos syndrome, type Via, formerly; EDS VIA; Ehlers-Danlos syndrome, type Via; Ehlers-Danlos syndrome type 6A; Ehlers-Danlos syndrome, type VIA; Ehlers-Danlos syndrome, oculoscoliotic type; EDS, oculoscoliotic type; Ehlers-Danlos syndrome, kyphoscoliotic type 1; Ehlers-Danlos syndrome, type 6; nevo syndrome; EDS 6; Ehlers-Danlos syndrome, kyphoscoliotic type; EDS6; EDS, kyphoscoliotic type; kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Ehlers-Danlos syndrome kyphoscoliotic type
• Definition: A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)
• Disease Hierarchy:
  DISB52BH: Eye disorder
  DISCPWH9: Autosomal recessive disease
  DISSVBRR: Ehlers-Danlos syndrome
  DIS8I9FS: Hereditary disorder of connective tissue
  DISVE04H: Ehlers-Danlos syndrome, kyphoscoliotic type 1
• Disease Identifiers:
  MONDO ID: MONDO_0016002
  MESH ID: C536198
  UMLS CUI: C0268342
  OMIM ID: 225400
  MedGen ID: 75672
  Orphanet ID: 1900
  SNOMED CT ID: 25606004

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
PLOD1	TTEKJP3	Strong	Biomarker	[1]
PLOD1	TTEKJP3	Definitive	Autosomal recessive	[2]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FKBP14	OT55W5WC	Strong	Biomarker	[3]
P3H3	OTRC8QCM	Strong	Biomarker	[4]
P3H4	OTZPXYSH	Strong	Biomarker	[4]
PLOD1	OT3ZIANF	Definitive	Autosomal recessive	[2]

References

• [1] Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.Eur J Pediatr. 2015 Jan;174(1):105-12. doi: 10.1007/s00431-014-2429-9. Epub 2014 Oct 3.
• [2] A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. J Clin Invest. 1994 Apr;93(4):1716-21. doi: 10.1172/JCI117155.
• [3] Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.Am J Med Genet A. 2016 Aug;170(8):2031-8. doi: 10.1002/ajmg.a.37728. Epub 2016 May 5.
• [4] P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA.J Biol Chem. 2017 Mar 3;292(9):3877-3887. doi: 10.1074/jbc.M116.762245. Epub 2017 Jan 23.