Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism (HLD7)

伴或不伴少牙和性腺功能减退的低髓鞘化脑白质营养不良7型(来自ICD-11)

别称:

4h Syndrome

Pol Iii-Related Leukodystrophy

Hld7

Addh

Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism

Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome

Ataxia, Delayed Dentition, and Hypomyelination

Tremor-Ataxia with Central Hypomyelination

Leukodystrophy with Oligodontia

4h Leukodystrophy 1

Tach

Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism

Leukodystrophy Hypomyelinating with Hypodontia and Hypogonadotropic Hypogonadism 4h Syndrome

Hypomyelination with Cerebellar Atrophy and Hypoplasia of the Corpus Callosum

Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome

Leukoencephalopathy, Hypomyelinating, with Ataxia and Delayed Dentition

Leukoencephalopathy Hypomyelinating with Ataxia and Delayed Dentition

Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome

Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism

Ribonucleic Acid Polymerase Iii-Related Leukodystrophy

Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination

Ataxia-Delayed Dentition-Hypomyelination Syndrome

Pol Iii-Related Hypomyelinating Leukodystrophies

Leukodystrophy, Dysmyelinating, with Oligodontia

Ataxia Delayed Dentition and Hypomyelination

Attention Deficit Hyperactivity Disorder

Leukodystrophy, Hypomyelinating, Type 7

Dentoleukoencephalopathy

Odontoleukodystrophy

Pol Iii Disorder

Hcahc

Hld8

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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

白质营养不良症，7型，伴有或不伴有先天性牙列不全和/或性腺功能减退，也称为4h综合征，与白质营养不良症，6型和性腺功能减退有关，症状包括背痛、头痛和疼痛。与白质营养不良症，7型，伴有或不伴有先天性牙列不全和/或性腺功能减退有关的重要基因是POLR3A（RNA聚合酶III亚基A），其相关通路/超级通路包括RNA聚合酶III转录启动和细胞质传感器病原体相关DNA。在该疾病的背景下，已提到的药物包括甲基苯丙胺和组胺。相关组织包括脑和眼，相关表型为共济失调和先天性牙列不全。

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