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X-linked Ehlers-Danlos syndrome

MedGen UID:
75671
•Concept ID:
C0268341
•
Disease or Syndrome
Synonyms: EDS 5; EDS V; Ehlers-Danlos syndrome, type 5
SNOMED CT: Ehlers-Danlos syndrome, type 5 (67202007); X-linked Ehlers-Danlos syndrome (67202007); Ehlers-Danlos syndrome type V (67202007)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010586
Orphanet: ORPHA75497

Definition

A rare systemic disease characterized by a severe phenotype in all male patients, combining abnormality of connective tissue typical for Ehlers-Danlos syndrome (including joint hypermobility, scoliosis, soft and doughy skin, hyperextensible skin, abnormal scarring, facial peculiarities, and generalized hypotonia, among others) and eventually lethal congestive heart failure due to polyvalvular disease. Female carriers are affected to a variable degree. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked Ehlers-Danlos syndrome
Follow this link to review classifications for X-linked Ehlers-Danlos syndrome in Orphanet.

Professional guidelines

PubMed

Clinical manifestations and treatment of Menkes disease and its variants.
Kodama H, Murata Y, Kobayashi M
Pediatr Int 1999 Aug;41(4):423-9. doi: 10.1046/j.1442-200x.1999.01095.x. PMID: 10453199

Recent clinical studies

Etiology

Musculoskeletal Issues in Children and Adolescents: Genetic Musculoskeletal Disorders.
O'Connor FG, Leggit JC
FP Essent 2024 Sep;544:12-19. PMID: 39283673
Closing the Diagnostic Gap in Adolescents and Young Adult Women With Bleeding Disorders: Missed Opportunities.
Wright TS, Cygan PH
Obstet Gynecol 2023 Aug 1;142(2):251-256. Epub 2023 Jul 5 doi: 10.1097/AOG.0000000000005262. PMID: 37411028
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Reinstein E, Frentz S, Morgan T, García-Miñaúr S, Leventer RJ, McGillivray G, Pariani M, van der Steen A, Pope M, Holder-Espinasse M, Scott R, Thompson EM, Robertson T, Coppin B, Siegel R, Bret Zurita M, Rodríguez JI, Morales C, Rodrigues Y, Arcas J, Saggar A, Horton M, Zackai E, Graham JM, Rimoin DL, Robertson SP
Eur J Hum Genet 2013 May;21(5):494-502. Epub 2012 Oct 3 doi: 10.1038/ejhg.2012.209. PMID: 23032111Free PMC Article
The clinical presentation of Ehlers-Danlos syndrome.
Lawrence EJ
Adv Neonatal Care 2005 Dec;5(6):301-14. doi: 10.1016/j.adnc.2005.09.006. PMID: 16338669
X-linked recessive inheritance in the Ehlers-Danlos syndrome.
Beighton P
Br Med J 1968 Aug 17;3(5615):409-11. doi: 10.1136/bmj.3.5615.409. PMID: 5302130Free PMC Article

Diagnosis

Musculoskeletal Issues in Children and Adolescents: Genetic Musculoskeletal Disorders.
O'Connor FG, Leggit JC
FP Essent 2024 Sep;544:12-19. PMID: 39283673
Ocular manifestations of genetic skin disorders.
Jen M, Nallasamy S
Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2 doi: 10.1016/j.clindermatol.2015.11.008. PMID: 26903188
Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
The genetics of mitral valve prolapse.
Grau JB, Pirelli L, Yu PJ, Galloway AC, Ostrer H
Clin Genet 2007 Oct;72(4):288-95. doi: 10.1111/j.1399-0004.2007.00865.x. PMID: 17850623
Periventricular heterotopia.
Lu J, Sheen V
Epilepsy Behav 2005 Sep;7(2):143-9. doi: 10.1016/j.yebeh.2005.05.001. PMID: 15996530

Therapy

Musculoskeletal Issues in Children and Adolescents: Genetic Musculoskeletal Disorders.
O'Connor FG, Leggit JC
FP Essent 2024 Sep;544:12-19. PMID: 39283673
Small amounts of functional ATP7A protein permit mild phenotype.
Møller LB
J Trace Elem Med Biol 2015;31:173-7. Epub 2014 Aug 8 doi: 10.1016/j.jtemb.2014.07.022. PMID: 25172213
Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
Ehlers-Danlos syndrome: correlation with headache disorders in a young woman.
Di Palma F, Cronin AH
J Headache Pain 2005 Dec;6(6):474-5. doi: 10.1007/s10194-005-0256-0. PMID: 16388346Free PMC Article
Clinical manifestations and treatment of Menkes disease and its variants.
Kodama H, Murata Y, Kobayashi M
Pediatr Int 1999 Aug;41(4):423-9. doi: 10.1046/j.1442-200x.1999.01095.x. PMID: 10453199

Prognosis

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.
Harkness JR, Thomas HB, Urquhart JE, Jamieson P; Genomics England Research Consortium, O'Keefe RT, Kingston HM, Deshpande C, Newman WG
Eur J Med Genet 2024 Feb;67:104907. Epub 2023 Dec 21 doi: 10.1016/j.ejmg.2023.104907. PMID: 38141875Free PMC Article
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
Ritelli M, Morlino S, Giacopuzzi E, Carini G, Cinquina V, Chiarelli N, Majore S, Colombi M, Castori M
Am J Med Genet A 2017 Jan;173(1):169-176. Epub 2016 Oct 14 doi: 10.1002/ajmg.a.38004. PMID: 27739212
Inborn errors of copper metabolism.
Kaler SG
Handb Clin Neurol 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. PMID: 23622398Free PMC Article
The clinical presentation of Ehlers-Danlos syndrome.
Lawrence EJ
Adv Neonatal Care 2005 Dec;5(6):301-14. doi: 10.1016/j.adnc.2005.09.006. PMID: 16338669
X-linked Ehlers-Danlos syndrome type V; the next generation.
Beighton P, Curtis D
Clin Genet 1985 May;27(5):472-8. doi: 10.1111/j.1399-0004.1985.tb00234.x. PMID: 4006272

Clinical prediction guides

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
Ritelli M, Morlino S, Giacopuzzi E, Carini G, Cinquina V, Chiarelli N, Majore S, Colombi M, Castori M
Am J Med Genet A 2017 Jan;173(1):169-176. Epub 2016 Oct 14 doi: 10.1002/ajmg.a.38004. PMID: 27739212
Small amounts of functional ATP7A protein permit mild phenotype.
Møller LB
J Trace Elem Med Biol 2015;31:173-7. Epub 2014 Aug 8 doi: 10.1016/j.jtemb.2014.07.022. PMID: 25172213
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Reinstein E, Frentz S, Morgan T, García-Miñaúr S, Leventer RJ, McGillivray G, Pariani M, van der Steen A, Pope M, Holder-Espinasse M, Scott R, Thompson EM, Robertson T, Coppin B, Siegel R, Bret Zurita M, Rodríguez JI, Morales C, Rodrigues Y, Arcas J, Saggar A, Horton M, Zackai E, Graham JM, Rimoin DL, Robertson SP
Eur J Hum Genet 2013 May;21(5):494-502. Epub 2012 Oct 3 doi: 10.1038/ejhg.2012.209. PMID: 23032111Free PMC Article
Genetic diseases of copper metabolism.
Prohaska JR
Clin Physiol Biochem 1986;4(1):87-93. PMID: 3514056
Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.
Di Ferrante N, Leachman RD, Angelini P, Donnelly PV, Francis G, Almazan A
Connect Tissue Res 1975;3(1):49-53. doi: 10.3109/03008207509152341. PMID: 240645

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