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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Hypopituitarism
Alias:
Pituitary Hypofunction
Deficient Secretion of One or More Pituitary Hormones
Deficient Secretion of All Pituitary Hormones
Postpartum Panhypopituitary Syndrome
Anterior Pituitary Insufficiency
Anterior Pituitary Hypofunction
Prepubertal Panhypopituitarism
Pituitary Hypoadrenocorticism
Pituitary Hormone Deficiency
Pituitary Gland Hypofunction
Pituitary Insufficiency Nos
Panhypopituitarism Syndrome
Postpartum Hypopituitarism
Hyposomatotropic Dwarfism
Hypophyseal Short Stature
Hypopituitarism Syndrome
Juvenile Hypopituitarism
Pituitary Insufficiency
Primary Hypopituitarism
Pituitary Short Stature
Hypopituitary Dwarfism
Hypopituitary Cachexia
Secondary Hypogonadism
Pituitary Hypogonadism
Hypophyseal Dystrophy
Pituitary Infantilism
Pituitary Deficiency
Hypophyseal Dwarfism
Prepubertal Dwarfism
Pituitary Dwarfism
Pituitary Cachexia
Pituitary Failure
Hypohypophysism
Subpituitarism
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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
低垂体功能障碍,也称为垂体功能低下,与联合垂体激素缺乏、遗传形式和库勒-琼斯综合症有关。与低垂体功能障碍有关的重要基因是TBC1D32(TBC1域家族成员32),其相关通路/超级通路包括信号转导和p70S6K信号通路。在该疾病的背景下提到了甲基睾酮和庚酸睾酮。附属组织包括垂体和甲状腺,相关表型为神经系统和稳态/新陈代谢。
Related ID:
MALACARDS:HYP083
MESH:D007018
ICD11:292840069/other
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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41
507
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HYP083
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
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Journal
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IF
No Data Found!
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