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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
Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis (PKDTS)
Alias:
Tuberous Sclerosis/polycystic Kidney Disease Contiguous Gene Syndrome
Pkdts
Autosomal Dominant Polycystic Kidney Disease Type 1 with Tuberous Sclerosis
Tsc2/pkd1 Contiguous Gene Syndrome
Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis
Chromosome 16p13.3 Deletion Syndrome, Distal
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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
多囊肾病,婴儿型,伴有结节性硬化症,又称结节性硬化症/多囊肾病连锁基因综合征,与伴有或不伴有多囊肝的多囊肾病有关。与多囊肾病,婴儿型,伴有结节性硬化症相关的基因是PKDTS(多囊肾病,婴儿型,伴有结节性硬化症)。附属组织包括肾脏和乳腺,相关表型为多囊肾发育不良和肾血管平滑肌瘤。
Related ID:
MALACARDS:PLY116
OMIM:600273
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
<1/1000000
2
55
4
PLY116
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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