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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
Hypothyroidism, Congenital, Nongoitrous, 2 (CHNG2)
Alias:
Thyroid Dysgenesis
Thyroid Hypoplasia
Thyroid Hemiagenesis
Chng2
Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia
Congenital Nongoitrous Hypothyroidism 2
Athyreotic Hypothyroidism
Thyrotropin Resistance
Thyroid Agenesis
Rtsh
Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia, Type 2
Congenital Hypothyroidism Due to Thyroid Dysgenesis or Hypoplasia
Hypothyroidism, Congenital, Due to Thyroid Dysgenesis
Congenital Hypothyroidism Due to Thyroid Dysgenesis
Hypothyroidism, Congenital, Non-Goitrous, 2
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital, Nongoitrous, 3
Thyroid-Stimulating Hormone Resistance
Thyroid Hormone Resistance Syndrome
Hypothyroidism, Athyreotic
Resistance to Thyrotropin
Thyroid, Ectopic
Thyroid Ectopic
Ectopic Thyroid
Thyrotropin
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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
原发性甲状腺功能减退症,无甲状旁腺功能减退症,2型,又称甲状腺发育不全,与巴莫特-拉扎鲁斯综合症和无甲状腺症有关。与原发性甲状腺功能减退症,无甲状旁腺功能减退症,2型相关的基因是PAX8(配对盒8),其相关通路/超级通路包括甲状腺素(甲状腺激素)的产生。在该疾病的背景下,已提到的药物有地塞米松和地塞米松醋酸酯。相关组织包括甲状腺和垂体,相关表型为便秘和甲状腺功能减退症。
Related ID:
MALACARDS:HYP760
OMIM:218700
MESH:D050033
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
1-9/100000
9
74
35
HYP760
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
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
Title
PMID
Journal
Year
IF
No Data Found!
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