EB患者突变数据库 EB patients mutation database
EB Patient Detail Information
Patient ID | 226 |
Gene1 | COL7A1 |
Mutation1 | c.7097G>C |
Protein1,蛋白质变化1 | p.G2366A |
Effect1,突变的影响1 | 该变异为 HGMD 收录的已知变异;文献收录 1 个家系的 2 名大疱性表皮松解症患者(姐弟二人)以复合杂合态的形式携带该变异[1](PM3_Supporting,PP1,PP4);该变异位于COL7A1 基因热点变异区域,三螺旋结构域的 Gly-X-Y 重复序列中的甘氨酸残基是原纤维胶原蛋白的结构和稳定性所必需的 |
Gene2 | |
Mutation2 | |
Protein2,蛋白质变化2 | |
Effect2,突变的影响2 | |
Inheritance,遗传模式 | Dominant |
Subtype,类型和亚型 | DDEB Intermediate |
Gender,性别 | Female |
Ethnicity,种族民族 | 彝 |
Clinical Age,检查检测时的年龄 | 2 |
Affected Area,皮损面积,如generalized, pretibial | erythema, erosions were seen. hypopigmentation and hyperpigmentation. milia, photosensitivity, EB nevi |
Blister, 有无水疱及严重程度 | skin loss beneath the knees on both sides, on hands, blisters on lips, on birth. Now: skin loss in plaque, hemorrhagic blisters, scars. |
Milia,粟丘疹有无,多少,位置 | |
Atrophic Scar,有无萎缩性疤痕 | |
Keratoderma,有无角化过度 | Keratoderma |
Nail,甲是否缺失及发育不良 | deformed and lost nails. pachyonychia |
Hand,是否有并指 | |
Cocoon Hand,是否有茧套状并指 | |
Feet,脚趾是否并指 | |
Granulation,伤口表面是否有肉芽增生 | |
Anemia,是否有贫血及严重程度 | |
Oral Erosion,口腔溃疡情况 | oral pain infrequently. ankyloglossia. oral erosions frequently. |
Teeth,龋齿,釉质缺失,脱落等情况 | |
Genitourinary Tract,有无尿道狭窄,疼痛 | |
Respiratory Tract,有无嘶哑的情况 | seldom hoarse, stridor |
SCC,有无鳞状细胞癌,数量,位置 | |
Hair Loss,少发,脱发 | |
Itch,有无瘙痒及严重程度 | frequently itch. score 6. lasting for less than 30 minutes each time. drug effective but not very good. |
Swallow,有无吞咽困难 | infrequently swallow difficulty. fluid food. |
Others,其它特别的情况 | eye pain infrequently. eyelid blister and scar. conjunctiva blister and erosion. constipation sometimes. hemafecia infrequently. pain on defecation, and anal fissure frequently. 症状描述来自上海新华医院皮肤科 |
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