Diphthamide Deficiency Syndrome

Alias:

Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome

Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair

Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair

Developmental Delay-Short Stature-Dysmorphic Features-Sparse Hair Syndrome

Diphthamide-Deficiency Syndrome

Loucks-Innes Syndrome

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

二氢硫胺素缺乏症，又称颅面发育不良-矮小症-外胚层异常-智力障碍综合征，与发育迟缓、矮小、面部畸形和稀疏头发有关 2 和发育迟缓、矮小、面部畸形和稀疏头发 1。与二氢硫胺素缺乏症有关的重要基因是 DPH1（二氢硫胺素生物合成1），其相关通路/超级通路包括γ-羧化、羟基化、硫酰化和芳基硫酸酯激活。附属组织包括骨和肾，相关表型为全球发育迟缓和面部异常形状

Related ID：

MALACARDS：DPH034