KEGG DISEASE: Ehlers-Danlos syndrome vascular type

DISEASE: Ehlers-Danlos syndrome vascular type

Entry

H02242                      Disease

Name

Ehlers-Danlos syndrome vascular type;
Ehlers-Danlos syndrome type IV

Supergrp

Ehlers-Danlos syndrome [DS:H00802]

Description

Ehlers-Danlos syndrome vascular type (EDSVASC) is an autosomal dominant life-threatening connective tissue disorder. EDSVASC causes severe fragility of connective tissues with arterial and gastrointestinal rupture. Patients typically harbor a heterozygous mutation in the COL3A1 gene, encoding type III collagen, with the rare exception of specific mutations in COL1A1.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H02242  Ehlers-Danlos syndrome vascular type
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H02242  Ehlers-Danlos syndrome vascular type

Pathway

hsa04820

Cytoskeleton in muscle cells

hsa04926

Relaxin signaling pathway

hsa04611

Platelet activation

Network

nt06539 Cytoskeleton in muscle cells

Gene

(EDSVASC) COL3A1 [HSA:1281] [KO:K19720]

Comment

The rare specific heterozygous mutations in COL1A1 are c.934C>T, p. Arg312Cys; c.1720C>T, p.Arg574Cys; and c.3277C>T, p.Arg1093Cys.

Other DBs

ICD-11:

LD28.1Y

MeSH:

D000094623

OMIM:

130050

Reference

PMID:28306229

Authors

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B

Title

The 2017 international classification of the Ehlers-Danlos syndromes.

Journal

Am J Med Genet C Semin Med Genet 175:8-26 (2017)
DOI:10.1002/ajmg.c.31552

Reference

PMID:15127738

Authors

Germain DP, Herrera-Guzman Y

Title

Vascular Ehlers-Danlos syndrome.

Journal

Ann Genet 47:1-9 (2004)
DOI:10.1016/j.anngen.2003.07.002

Reference

PMID:10051163 (COL3A1)

Authors

Gilchrist D, Schwarze U, Shields K, MacLaren L, Bridge PJ, Byers PH

Title

Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives.

Journal

Am J Med Genet 82:305-11 (1999)
DOI:10.1002/(SICI)1096-8628(19990212)82:4<305::AID-AJMG6>3.0.CO;2-C

LinkDB

» Japanese version

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