Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa (JEB) are characterized by blister formation within the lamina lucida of the dermal-epidermal basement membrane. Herlitz subtype, the classic form of the disease, shows a severe phenotype that may lead to death during infancy or early childhood owing to infection.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Genetic and developmental disorders affecting the skin
Genetically-determined epidermolysis bullosa
EC31 Junctional epidermolysis bullosa
H00586 Epidermolysis bullosa, junctional
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H00586 Epidermolysis bullosa, junctional
nt06548 Integrin signaling
H00586 Epidermolysis bullosa, junctional
Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa.
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.
Inoue M, Tamai K, Shimizu H, Owaribe K, Nakama T, Hashimoto T, McGrath JA
Title
A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?
Has C, Sparta G, Kiritsi D, Weibel L, Moeller A, Vega-Warner V, Waters A, He Y, Anikster Y, Esser P, Straub BK, Hausser I, Bockenhauer D, Dekel B, Hildebrandt F, Bruckner-Tuderman L, Laube GF
Title
Integrin alpha3 mutations with kidney, lung, and skin disease.
Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism [DS:H00618]
Description
Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead to enamel hypoplasia and/or hypomineralization. Mutations in several tooth-specific genes are associated with the disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the face, mouth or teeth
LA30 Structural developmental anomalies of teeth and periodontal tissues
H00615 Amelogenesis imperfecta
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H00615 Amelogenesis imperfecta
Seymen F, Kim YJ, Lee YJ, Kang J, Kim TH, Choi H, Koruyucu M, Kasimoglu Y, Tuna EB, Gencay K, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Zhang H, Hu JC, Simmer JP, Cho ES, Kim JW
Title
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
Parry DA, Brookes SJ, Logan CV, Poulter JA, El-Sayed W, Al-Bahlani S, Al Harasi S, Sayed J, Raif el M, Shore RC, Dashash M, Barron M, Morgan JE, Carr IM, Taylor GR, Johnson CA, Aldred MJ, Dixon MJ, Wright JT, Kirkham J, Inglehearn CF, Mighell AJ
Title
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
Parry DA, Smith CE, El-Sayed W, Poulter JA, Shore RC, Logan CV, Mogi C, Sato K, Okajima F, Harada A, Zhang H, Koruyucu M, Seymen F, Hu JC, Simmer JP, Ahmed M, Jafri H, Johnson CA, Inglehearn CF, Mighell AJ
Title
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.
Kim JW, Zhang H, Seymen F, Koruyucu M, Hu Y, Kang J, Kim YJ, Ikeda A, Kasimoglu Y, Bayram M, Zhang C, Kawasaki K, Bartlett JD, Saunders TL, Simmer JP, Hu JC
Title
Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
