Autosomal Dominant Type VII Ehlers-Danlos Syndrome

PROM mutation in COL1A1

Also Known As:

Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant; Arthrochalasis Multiplex Congenita; EDS VII, Mutant Procollagen Type; EDS VIIA; EDS7A; Ehlers-Danlos Syndrome, Arthrochalasia Type

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Cardiovascular Diseases: 91362
- Vascular Diseases: 15138
  - Hemostatic Disorders: 250
    - Ehlers-Danlos Syndrome: 799
      - Autosomal Dominant Type VII Ehlers-Danlos Syndrome: 5
Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Hemorrhagic Disorders: 702
    - Hemostatic Disorders: 250
      - Ehlers-Danlos Syndrome: 799
        Autosomal Dominant Type VII Ehlers-Danlos Syndrome: 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Ehlers-Danlos Syndrome: 799
      - Autosomal Dominant Type VII Ehlers-Danlos Syndrome: 5
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Ehlers-Danlos Syndrome: 799
      - Autosomal Dominant Type VII Ehlers-Danlos Syndrome: 5
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Skin Abnormalities: 159
    - Ehlers-Danlos Syndrome: 799
      - Autosomal Dominant Type VII Ehlers-Danlos Syndrome: 5
  - Genetic Skin Diseases: 47
    - Ehlers-Danlos Syndrome: 799
      - Autosomal Dominant Type VII Ehlers-Danlos Syndrome: 5
- Connective Tissue Diseases: 3269
  - Collagen Diseases: 754
    - Ehlers-Danlos Syndrome: 799
      - Autosomal Dominant Type VII Ehlers-Danlos Syndrome: 5

Related Diseases

1.	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
2.	Type IV Ehlers-Danlos Syndrome
3.	Autosomal Recessive Type VII Ehlers-Danlos Syndrome
4.	Occipital horn syndrome
5.	Down Syndrome (Down's Syndrome)

Experts

1.	Chambaz, Céline: 1 article (05/2008)
2.	Giunta, Cecilia: 1 article (05/2008)
3.	Pedemonte, Marina: 1 article (05/2008)
4.	Scapolan, Sara: 1 article (05/2008)
5.	Steinmann, Beat: 1 article (05/2008)
6.	Cabral, Wayne A: 1 article (03/2006)
7.	Leikin, Sergey: 1 article (03/2006)
8.	Makareeva, Elena: 1 article (03/2006)
9.	Marini, Joan C: 1 article (03/2006)
10.	Philippon, M J: 1 article (10/2001)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Dominant Type VII Ehlers-Danlos Syndrome:

1.	CollagenIBA 05/15/2008 - "The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure." 03/10/2006 - "As in Ehlers-Danlos syndrome (EDS) VIIA/B, fibrils containing pN-collagen are thinner and weaker causing EDS-like laxity of large and small joints and paraspinal ligaments. " 10/01/2001 - "It can be associated with bone-collagen type disorders, including Ehlers-Danlos syndrome, Down syndrome, arthrochalasis multiplex congenita, developmental dysplastic hip, and idiopathic type. "
2.	Collagen Type III (Type III Collagen)IBA 01/01/1995 - "Recent advances in the molecular analysis of EDS have identify defects responsible for EDS VI (homozygous and compound heterozygous mutations in the lysyl-hydroxylase gene), EDS VIIA and EDS VIIB (mutations in the type I collagene genes), EDS VIIC (deficiency of procollagen N-proteinase), EDS IX (mutations in the MNK gene), and EDS IV (mutations in the type III collagen gene). " 09/01/1993 - "Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity). "
3.	Procollagen N-Endopeptidase (Procollagen Peptidase)IBA 01/01/1995 - "Recent advances in the molecular analysis of EDS have identify defects responsible for EDS VI (homozygous and compound heterozygous mutations in the lysyl-hydroxylase gene), EDS VIIA and EDS VIIB (mutations in the type I collagene genes), EDS VIIC (deficiency of procollagen N-proteinase), EDS IX (mutations in the MNK gene), and EDS IV (mutations in the type III collagen gene). " 09/01/1993 - "Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity). "
4.	2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA 01/01/1995 - "Recent advances in the molecular analysis of EDS have identify defects responsible for EDS VI (homozygous and compound heterozygous mutations in the lysyl-hydroxylase gene), EDS VIIA and EDS VIIB (mutations in the type I collagene genes), EDS VIIC (deficiency of procollagen N-proteinase), EDS IX (mutations in the MNK gene), and EDS IV (mutations in the type III collagen gene). " 09/01/1993 - "Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity). "
5.	Collagen Type I (Type I Collagen)IBA 09/01/1993 - "Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity). "
6.	Protein-Lysine 6-Oxidase (Lysyl Oxidase)IBA 09/01/1993 - "Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity). "