Details of Disease

General Information of Disease (ID: DISA74TB)

• Disease Name: Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
• Synonyms: EDSKMH; EDSKSCL2; EDS with progressive kyphoscoliosis, myopathy, and deafness; EDS, kyphoscoliotic and hearing loss type; Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDS with progressive kyphoscoliosis, myopathy, and hearing loss; Ehlers-Danlos syndrome, kyphoscoliotic type, 2; Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness; Ehlers-Danlos syndrome, kyphoscoliotic and deafness type; Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type
• Definition: A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.
• Disease Hierarchy:
  DISSVBRR: Ehlers-Danlos syndrome
  DISA74TB: Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
• Disease Identifiers:
  MONDO ID: MONDO_0013800
  UMLS CUI: C3281160
  OMIM ID: 614557
  MedGen ID: 482790
  Orphanet ID: 300179

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHCR7	DEL7GFA	Limited	Biomarker	[1]
HSD17B10	DEGSPC9	Limited	Genetic Variation	[1]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACADSB	OTDO6HBG	Limited	Biomarker	[1]
AUH	OT8VKBXX	Limited	Biomarker	[1]
ROGDI	OTZ7LSKJ	Limited	Genetic Variation	[1]
FKBP14	OT55W5WC	Definitive	Autosomal recessive	[2]

References

• [1] Genotype-based databases for variants causing rare diseases.Gene. 2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8.
• [2] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.