EB患者突变数据库 EB patients mutation database
EB Patient Detail Information
Patient ID | 33 |
Gene1 | COL7A1 |
Mutation1 | c.7164+1G>A |
Protein1,蛋白质变化1 | |
Effect1,突变的影响1 | |
Gene2 | COL7A1 |
Mutation2 | c.5487G>A |
Protein2,蛋白质变化2 | p.P1829= |
Effect2,突变的影响2 | 同义变异,不影响氨基酸变异,但 splicing_ada 和 rf_score 等软件均预测该变异影响 mRNA 前体剪接(PP3)。 |
Inheritance,遗传模式 | Recessive ? |
Subtype,类型和亚型 | RDEB Localized |
Gender,性别 | Male |
Ethnicity,种族民族 | Han |
Clinical Age,检查检测时的年龄 | 3 |
Affected Area,皮损面积,如generalized, pretibial | scar. hyperpigmentation |
Blister, 有无水疱及严重程度 | |
Milia,粟丘疹有无,多少,位置 | yes |
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 | pachyonychia. blister after knocked |
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 | score 4. 1 or more times every day. less than 30 minutes each time. happens on morning and night. Intensifying with heat, cold, sweating. |
Swallow,有无吞咽困难 | |
Others,其它特别的情况 | 肋骨外翻,补钙。症状描述来自上海新华医院皮肤科 |
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