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Ehlers-Danlos syndrome, type 2

MedGen UID:
120628
Concept ID:
C0268336
Disease or Syndrome
Synonyms: Ehlers Danlos Syndrome, Mild Classic Type; Ehlers Danlos Syndrome, MITIS Type; Ehlers-Danlos syndrome type 2; Ehlers-Danlos syndrome, mild classic type; Ehlers-Danlos syndrome, MITIS type; Ehlers-Danlos Syndrome, Type II
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Ehlers-Danlos syndrome type II (20766005); Ehlers-Danlos syndrome, type 2 (20766005); Ehlers-Danlos syndrome, mitis (20766005); Ehlers-Danlos syndrome, mild classic form (20766005)
 

Definition

Ehlers-Danlos syndrome, type II belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene. [from NCI]

Clinical features

From HPO
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Hernia
MedGen UID:
6816
Concept ID:
C0019270
Finding
Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the ABDOMINAL WALL or the respiratory DIAPHRAGM. Hernias may be internal, external, congenital, or acquired.
Cigarette-paper scars
MedGen UID:
342099
Concept ID:
C1851828
Finding
Thin (atrophic) and wide scars.
Hyperextensible skin
MedGen UID:
66023
Concept ID:
C0241074
Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Fragile skin
MedGen UID:
66826
Concept ID:
C0241181
Finding
Skin that splits easily with minimal injury.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Molluscoid pseudotumors
MedGen UID:
375465
Concept ID:
C1844597
Disease or Syndrome
Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.
Soft, doughy skin
MedGen UID:
341366
Concept ID:
C1849043
Finding
A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.
Cigarette-paper scars
MedGen UID:
342099
Concept ID:
C1851828
Finding
Thin (atrophic) and wide scars.
Subcutaneous spheroids
MedGen UID:
927609
Concept ID:
C4293700
Pathologic Function
Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEhlers-Danlos syndrome, type 2
Follow this link to review classifications for Ehlers-Danlos syndrome, type 2 in Orphanet.

Recent clinical studies

Etiology

Rahman Q, Naidu SG, Chong BW, Stone WM
Vasc Endovascular Surg 2019 May;53(4):343-347. Epub 2019 Jan 10 doi: 10.1177/1538574418824185. PMID: 30630391
Chan C, Krahe A, Lee YT, Nicholson LL
Clin Rheumatol 2019 Feb;38(2):503-511. Epub 2018 Sep 19 doi: 10.1007/s10067-018-4296-7. PMID: 30232714
Ritter A, Atzinger C, Hays B, James J, Shikany A, Neilson D, Martin L, Weaver KN
Am J Med Genet A 2017 Jun;173(6):1467-1472. Epub 2017 Apr 24 doi: 10.1002/ajmg.a.38243. PMID: 28436618
Scheper MC, Pacey V, Rombaut L, Adams RD, Tofts L, Calders P, Nicholson LL, Engelbert RH
Arthritis Care Res (Hoboken) 2017 Mar;69(3):421-429. doi: 10.1002/acr.22998. PMID: 27483212
Hugon-Rodin J, Lebègue G, Becourt S, Hamonet C, Gompel A
Orphanet J Rare Dis 2016 Sep 13;11(1):124. doi: 10.1186/s13023-016-0511-2. PMID: 27619482Free PMC Article

Diagnosis

Rahman Q, Naidu SG, Chong BW, Stone WM
Vasc Endovascular Surg 2019 May;53(4):343-347. Epub 2019 Jan 10 doi: 10.1177/1538574418824185. PMID: 30630391
Hope L, Juul-Kristensen B, Løvaas H, Løvvik C, Maeland S
Disabil Rehabil 2019 Feb;41(3):333-340. Epub 2017 Oct 17 doi: 10.1080/09638288.2017.1390695. PMID: 29041819
Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai JI, Kurosawa K
Congenit Anom (Kyoto) 2018 Nov;58(6):191-193. Epub 2018 Mar 25 doi: 10.1111/cga.12277. PMID: 29520887
Pennetti A
Physiother Theory Pract 2018 Jul;34(7):559-568. Epub 2018 Jan 8 doi: 10.1080/09593985.2017.1422207. PMID: 29308941
Cortini F, Marinelli B, Romi S, Seresini A, Pesatori AC, Seia M, Montano N, Bassotti A
Vasc Endovascular Surg 2017 Apr;51(3):141-145. Epub 2017 Feb 9 doi: 10.1177/1538574417692114. PMID: 28183226

Therapy

Rahman Q, Naidu SG, Chong BW, Stone WM
Vasc Endovascular Surg 2019 May;53(4):343-347. Epub 2019 Jan 10 doi: 10.1177/1538574418824185. PMID: 30630391
Celletti C, Camerota F, Castori M, Censi F, Gioffrè L, Calcagnini G, Strano S
Biomed Res Int 2017;2017:9161865. Epub 2017 Feb 12 doi: 10.1155/2017/9161865. PMID: 28286774Free PMC Article
Gaisl T, Giunta C, Bratton DJ, Sutherland K, Schlatzer C, Sievi N, Franzen D, Cistulli PA, Rohrbach M, Kohler M
Thorax 2017 Aug;72(8):729-735. Epub 2017 Jan 10 doi: 10.1136/thoraxjnl-2016-209560. PMID: 28073822
Leganger J, Søborg MK, Mortensen LQ, Gregersen R, Rosenberg J, Burcharth J
Int J Colorectal Dis 2016 Dec;31(12):1863-1867. Epub 2016 Sep 7 doi: 10.1007/s00384-016-2650-2. PMID: 27604811
Chen W, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, Xu Z, Quezado M, Merke DP
Hum Mutat 2016 Sep;37(9):893-7. Epub 2016 Jul 8 doi: 10.1002/humu.23028. PMID: 27297501Free PMC Article

Prognosis

Hope L, Juul-Kristensen B, Løvaas H, Løvvik C, Maeland S
Disabil Rehabil 2019 Feb;41(3):333-340. Epub 2017 Oct 17 doi: 10.1080/09638288.2017.1390695. PMID: 29041819
Pennetti A
Physiother Theory Pract 2018 Jul;34(7):559-568. Epub 2018 Jan 8 doi: 10.1080/09593985.2017.1422207. PMID: 29308941
Scheper MC, Pacey V, Rombaut L, Adams RD, Tofts L, Calders P, Nicholson LL, Engelbert RH
Arthritis Care Res (Hoboken) 2017 Mar;69(3):421-429. doi: 10.1002/acr.22998. PMID: 27483212
De Wandele I, Rombaut L, De Backer T, Peersman W, Da Silva H, De Mits S, De Paepe A, Calders P, Malfait F
Rheumatology (Oxford) 2016 Aug;55(8):1412-20. Epub 2016 Apr 18 doi: 10.1093/rheumatology/kew032. PMID: 27094596
Deng Y, Wei S, Hu S, Chen J, Tan Z, Yang Y
Mol Med Rep 2015 Jul;12(1):1119-24. Epub 2015 Mar 13 doi: 10.3892/mmr.2015.3488. PMID: 25776230

Clinical prediction guides

Chan C, Krahe A, Lee YT, Nicholson LL
Clin Rheumatol 2019 Feb;38(2):503-511. Epub 2018 Sep 19 doi: 10.1007/s10067-018-4296-7. PMID: 30232714
Pennetti A
Physiother Theory Pract 2018 Jul;34(7):559-568. Epub 2018 Jan 8 doi: 10.1080/09593985.2017.1422207. PMID: 29308941
Morlino S, Dordoni C, Sperduti I, Venturini M, Celletti C, Camerota F, Colombi M, Castori M
Am J Med Genet A 2017 Apr;173(4):914-929. Epub 2017 Mar 7 doi: 10.1002/ajmg.a.38106. PMID: 28266107
Scheper MC, Pacey V, Rombaut L, Adams RD, Tofts L, Calders P, Nicholson LL, Engelbert RH
Arthritis Care Res (Hoboken) 2017 Mar;69(3):421-429. doi: 10.1002/acr.22998. PMID: 27483212
Hugon-Rodin J, Lebègue G, Becourt S, Hamonet C, Gompel A
Orphanet J Rare Dis 2016 Sep 13;11(1):124. doi: 10.1186/s13023-016-0511-2. PMID: 27619482Free PMC Article

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