EB患者突变数据库 EB patients mutation database
EB Patient Detail Information
Patient ID | 66 |
Gene1 | COL7A1 |
Mutation1 | c.6091G>A |
Protein1,蛋白质变化1 | p.G2031S |
Effect1,突变的影响1 | 父源。父亲杂合变异,表现正常。 |
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 self-improving |
Gender,性别 | Male |
Ethnicity,种族民族 | Han |
Clinical Age,检查检测时的年龄 | 0 |
Affected Area,皮损面积,如generalized, pretibial | skin loss on left foot and heel. completely healed after 3 months. His father has the same mutation but is not affected. |
Blister, 有无水疱及严重程度 | |
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 | |
Nail,甲是否缺失及发育不良 | |
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 | |
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 | |
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 | |
Swallow,有无吞咽困难 | |
Others,其它特别的情况 | 左侧足部皮肤部分缺如,不规则状,基底部红润,缺损处可见糜烂,黄色结痂,及渗出,踝部环状缩窄,周边皮肤完好,左右拇指有水疱 |
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