Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome (HDRS)

Alias:
Barakat Syndrome
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
Hdr Syndrome
Hypoparathyroidism-Sensorineural Hearing Loss-Renal Disease Syndrome
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
Nephrosis, Nerve Deafness, and Hypoparathyroidism
Hdr
Hypoparathyroidism, Deafness, Renal Disease Syndrome
Hypoparathyroidism Nerve Deafness Nephrosis
Nephrotic Syndrome
Nephrosis
Hdrs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome, also known as barakat syndrome, is related to glomerulonephritis and chronic kidney disease. An important gene associated with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome is GATA3 (GATA Binding Protein 3), and among its related pathways/superpathways are Cell junction organization and Markers of kidney cell lineage. The drugs Entecavir and Acetazolamide have been mentioned in the context of this disorder. Affiliated tissues include kidney and heart, and related phenotypes are hypoparathyroidism and renal dysplasia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
--
7
63
29

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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CAS Number
Status
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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