Insulin-Like Growth Factor I (IGF1RES)
别称：
Insulin-Like Growth Factor I, Resistance to
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Insulin-Like Growth Factor I Deficiency
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Igf1 Deficiency
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Growth Retardation with Sensorineural Deafness and Mental Retardation
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Igf-I Resistance
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Igf1res
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Igf1d
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Growth Delay Due to Insulin-Like Growth Factor Type 1 Deficiency
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Growth Delay Due to Insulin-Like Growth Factor I Resistance
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Resistance to Insulin-Like Growth Factor I
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Somatomedin, End-Organ Insensitivity to
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Insulin-Like Growth Factor 1 Resistance
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End-Organ Insensitivity to Somatomedin
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Somatomedin-C, Resistance to
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Resistance to Somatomedin-C
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Igf1 Resistance
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Somatomedin-C
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Patients with mutations in the receptor for insulin-like growth factor I exhibit intrauterine growth retardation, postnatal growth failure, short stature, and microcephaly. Additional features may include delayed bone age, developmental delay, and dysmorphic features. Insulin-like growth factor I deficiency (IGF1D) is characterized by severe pre- and postnatal growth failure, sensorineural deafness, and impaired motor and intellectual development. This disorder is also marked by increased plasma IGF1 levels. It is an autosomal recessive condition that presents with growth retardation, sensorineural deafness, and intellectual disability.
相关ID：
基础信息
遗传方式 | 发病时间 | 患病率/发病率 | 相关基因 | 相关模型 | 参考文献 | MALACARDS |
|---|---|---|---|---|---|---|
AD 常染色体显性遗传 AR 常染色体隐性遗传 | 未知 | -- | 46 | 510 | 30 |
疾病表征
当前疾病关联的表型信息：
分类：疾病表征所属解剖分类；
HPO概率/Orphanet概率：对应表征在当前疾病的发生概率，可根据发生概率进行排序；
HPO来源：跳转至HPO查看表征详情。
数据来源：HPO、Orphanet
基因 & 突变
当前疾病关联的基因及其突变：
作用分类：基因的主要生物学作用；
分值：疾病与基因之间的关联强度，分值越高，关联越紧密；
突变数量：疾病与基因相关的突变数量，括号内数字为同一Clinvar ID关联的数据总量，点击数字即可查看突变详情。
数据来源：Clinvar
靶点药物
与当前基因相关药物，展示CAS号、研发与临床试验状态。
数据来源：Clinical Trials
相关模型
当前基因相关的小鼠模型，点击模型名称，可查看模型详情。
数据来源：MGI
文献报道
当前基因最为密切相关的文献，可按年份、文献类型筛选，并可根据影响因子排序。
数据来源：Uniprot、PubMed