Allan-Herndon-Dudley Syndrome (AHDS)

Alias:
Ahds
Monocarboxylate Transporter 8 Deficiency
Mct8 Deficiency
Allan-Herndon Syndrome
X-Linked Intellectual Disability-Hypotonia Syndrome
Mental Retardation, X-Linked, with Hypotonia
Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency
Monocarboxylate Transporter 8 Deficiency
Mental Retardation and Muscular Atrophy
X-Linked Mental Retardation-Hypotonia
Triiodothyronine Resistance
T3 Resistance
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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
艾伦-赫顿-杜德利综合症,也被称为ahds,与格雷夫斯病1和甲状腺功能亢进有关,其症状包括共济失调和痉挛。与艾伦-赫顿-杜德利综合症相关的基因是SLC16A2(溶质载体家族16成员2),其相关通路/超级通路包括无机离子/阴离子和氨基酸/寡肽的运输以及SLITs和ROBOs的表达调控。苯基丁酸和甘油已在这种疾病的背景下被提及。相关组织包括甲状腺和大脑,相关表型为智力障碍和轴性肌张力减退。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
新生儿
<1/1000000
19
172
56

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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No Data Found!
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