Autosomal Recessive Epidermolysis Bullosa Simplex

Also Known As:

Epidermolysis Bullosa Simplex, Autosomal Recessive

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Epidermolysis Bullosa: 759
      - Epidermolysis Bullosa Simplex: 350
        Autosomal Recessive Epidermolysis Bullosa Simplex: 9
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Epidermolysis Bullosa: 759
      - Epidermolysis Bullosa Simplex: 350
        Autosomal Recessive Epidermolysis Bullosa Simplex: 9
Skin and Connective Tissue Diseases
- Skin Diseases: 13127

Related Diseases

1.	Muscular Dystrophies (Muscular Dystrophy)
2.	Epidermolysis Bullosa Dystrophica (Dystrophic Epidermolysis Bullosa)
3.	Squamous Cell Carcinoma (Epidermoid Carcinoma)

Experts

1.	McGrath, John A: 3 articles (08/2020 - 06/2010)
2.	Natsuga, Ken: 2 articles (08/2020 - 03/2015)
3.	Liu, Lu: 2 articles (10/2019 - 06/2010)
4.	Uitto, Jouni: 2 articles (10/2019 - 06/2002)
5.	Schröder, Rolf: 2 articles (01/2016 - 06/2002)
6.	Chao, Sheau-Chiou: 1 article (08/2020)
7.	Chen, Peng-Chieh: 1 article (08/2020)
8.	Hou, Ping-Chen: 1 article (08/2020)
9.	Hsu, Chao-Kai: 1 article (08/2020)
10.	Huang, Hsin-Yu: 1 article (08/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Recessive Epidermolysis Bullosa Simplex:

1.	PlectinIBA 08/18/2020 - "Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex." 01/01/2016 - "Mutations of the human plectin gene (PLEC) on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). " 06/01/2002 - "Mutations of the human plectin gene (Plec1) cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). " 02/01/1998 - "In addition, skin from patients with autosomal recessive epidermolysis bullosa simplex with plectin defects (n = 3) or with autosomal recessive dystrophic epidermolysis bullosa (n = 4) were included as controls. " 03/01/2015 - "Plectin deficiency causes autosomal recessive epidermolysis bullosa simplex (EBS) with involvement of the skin and other organs, such as muscle and gastrointestinal tract, depending on the expression pattern of the defective protein. "
2.	Protein Isoforms (Isoforms)IBA 02/01/2015 - "Only two homozygous nonsense mutations in the epidermal isoform of the dystonin gene, DST-e, have been reported previously in autosomal recessive epidermolysis bullosa simplex (EBS); the affected pedigrees were Kuwaiti and Iranian. " 06/01/2010 - "A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex."
3.	Nonsense Codon (Nonsense Mutation)IBA 02/01/2015 - "Only two homozygous nonsense mutations in the epidermal isoform of the dystonin gene, DST-e, have been reported previously in autosomal recessive epidermolysis bullosa simplex (EBS); the affected pedigrees were Kuwaiti and Iranian. " 06/01/2010 - "A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex."
4.	DystoninIBA 02/01/2015 - "Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait." 02/01/2015 - "Only two homozygous nonsense mutations in the epidermal isoform of the dystonin gene, DST-e, have been reported previously in autosomal recessive epidermolysis bullosa simplex (EBS); the affected pedigrees were Kuwaiti and Iranian. " 06/01/2010 - "A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex."
5.	Keratin-5 (Keratin 5)IBA 10/01/2019 - "Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out"."
6.	Keratin-14 (Keratin 14)IBA 04/01/2010 - "A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue."
7.	Proteins (Proteins, Gene)FDA Link 03/01/2015 - "Plectin deficiency causes autosomal recessive epidermolysis bullosa simplex (EBS) with involvement of the skin and other organs, such as muscle and gastrointestinal tract, depending on the expression pattern of the defective protein. "