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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis, also known as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome, is related to polycystic kidney disease 1 with or without polycystic liver disease and polycystic kidney disease. An important gene associated with Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis is PKDTS (Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis). Affiliated tissues include kidney and breast, and related phenotypes are polycystic kidney dysplasia and renal angiomyolipoma

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
<1/1000000
2
55
4

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

Title
PMID
Journal
Year
IF
No Data Found!
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