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2,003 Possible Causes for Epidermolysis Bullosa, Mutation in the Mitochondrial NAD Kinase 2 Gene

  • Congenital Muscular Dystrophy

    Abstract Mutations in the PLEC1 gene encoding plectin have been reported in neonatal epidermolysis bullosa simplex with muscular dystrophy of later-onset (EBS-MD).[ncbi.nlm.nih.gov] Patients CMD with familial junctional epidermolysis bullosa often have brain atrophy and enlarged ventricles on MRI.[emedicine.medscape.com] A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest. 1996 Nov 15. 98(10):2196-200.[emedicine.medscape.com]

    Missing: Mutation in the Mitochondrial NAD Kinase 2 Gene
  • Epidermolysis Bullosa Acquisita

    epidermolysis bullosa (disorder) EBA Epidermolysis bullosa acquisita EB acquisita Epidermolysis Bullosa Aquisita edit English epidermolysis bullosa acquisita chronic subepidermal[wikidata.org] From Wikipedia, the free encyclopedia Jump to navigation Jump to search Epidermolysis bullosa acquisita Other names Acquired epidermolysis bullosa [1] Specialty Dermatology[en.wikipedia.org] In contrast to the genetic forms of epidermolysis bullosa, EBA is usually an acquired, sporadic disease.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Mitochondrial NAD Kinase 2 Gene
  • Esophageal Stenosis

    Epidermolysis bullosa (EB) is a disease with 3 forms, most hereditary, characterized by spontaneous blistering lesions.[ncbi.nlm.nih.gov] We report a 13-year-old boy with recessive dystrophic epidermolysis bullosa who had dysphagia due to esophageal stenosis.[ncbi.nlm.nih.gov] Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, a protein of the epidermal attachment complex, and typically manifests with[ncbi.nlm.nih.gov]

    Missing: Mutation in the Mitochondrial NAD Kinase 2 Gene
  • Toxic Epidermal Necrolysis

    […] from his epidermolysis bullosa.[ncbi.nlm.nih.gov] Epidermolysis bullosa hereditaria. SLE. Scarlet fever (desquamation but no bullae). Other drug eruptions. Erythema multiforme. Bullous lichen planus.[patient.info] A 3-year-old child with recessive dystrophic epidermolysis bullosa treated with bone marrow transplantation subsequently developed body-wide epidermal detachment distinct[ncbi.nlm.nih.gov]

    Missing: Mutation in the Mitochondrial NAD Kinase 2 Gene
  • Mucous Membrane Pemphigoid

    No randomised controlled trials of treatments for epidermolysis bullosa acquisita were identified.[cochrane.org] These findings suggest that Brunsting-Perry cicatricial pemphigoid may represent a clinical variant of epidermolysis bullosa acquisita.[ncbi.nlm.nih.gov] Non-immune disorders that involve these epithelial components typically have a genetic basis--the main example being epidermolysis bullosa.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Mitochondrial NAD Kinase 2 Gene
  • Epidermolysis Bullosa

    epidermolysis bullosa.[symptoma.com] Types Types of Epidermolysis Bullosa The different forms of epidermolysis bullosa include: Epidermolysis bullosa simplex —tissue separation and blistering occur in the top[niams.nih.gov] Who gets epidermolysis bullosa?[symptoma.com]

    Missing: Mutation in the Mitochondrial NAD Kinase 2 Gene
  • Dystrophic Epidermolysis Bullosa

    Epidermolysis bullosa nevi.[ncbi.nlm.nih.gov] Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa.[ghr.nlm.nih.gov] bullosa acquisita.There exist other types of inherited epidermolysis bullosa, junctional epidermolysis bullosa and epidermolysis bullosa simplex, which are not related to[en.wikipedia.org]

    Missing: Mutation in the Mitochondrial NAD Kinase 2 Gene
  • Junctional Epidermolysis Bullosa

    bullosa (disorder) congenital junctional epidermolysis bullosa EBJ JEB Epidermolysis bullosa atrophicans Epidermolysis bullosa, junctional edit English junctional epidermolysis[wikidata.org] Epidermolysis bullosa Junctional epidermolysis bullosa (veterinary medicine) Skin lesion GeneReview/NIH/UW entry on Junctional Epidermolysis Bullosa[en.wikipedia.org] Six types of junctional epidermolysis bullosa (JEB) have been described previously.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Mitochondrial NAD Kinase 2 Gene
  • Epidermolysis Bullosa Simplex

    Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily.[ghr.nlm.nih.gov] […] encoding keratin 5 or keratin 14 Epidermolysis bullosa simplex (disorder) Epidermolysis bullosa simplex Weber–Cockayne syndrome Statements Epidermolysis bullosa simplex Identifiers[wikidata.org] epidermolysis bullosa simplex Also known as "Koebner variant of generalized epidermolysis bullosa simplex", presents at birth to early infancy with a predilection for the[en.wikipedia.org]

    Missing: Mutation in the Mitochondrial NAD Kinase 2 Gene
  • Keratitis Bullosa

    bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa.[eurekamag.com] The major treatment modality was use of ocular lubricants. epidermolysis bullosa Statistics from Altmetric.com epidermolysis bullosa Epidermolysis bullosa (EB) is a term for[bjo.bmj.com] FDA for its Phase 3 clinical trial design for RGN-137 to treat epidermolysis bullosa ("EB").[regenerx.com]

    Missing: Mutation in the Mitochondrial NAD Kinase 2 Gene

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