Leiomyomatosis, Diffuse, with Alport Syndrome (DL-ATS)

Alias:
Leiomyomatosis, Esophageal and Vulval, with Nephropathy
Chromosome Xq22.3 Centromeric Deletion Syndrome
Diffuse Leiomyomatosis with Alport Syndrome
Alport Syndrome and Diffuse Leiomyomatosis
Dl-Ats
Ats-Dl
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leiomyomatosis, Diffuse, with Alport Syndrome, also known as leiomyomatosis, esophageal and vulval, with nephropathy, is related to alport syndrome and leiomyomatosis, and has symptoms including constipation and dyspnea. Affiliated tissues include kidney and smooth muscle, and related phenotypes are renal insufficiency and cataract

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
Unknown
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13

Medical Symptom

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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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