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GTR Home > Conditions/Phenotypes > Tubulointerstitial kidney disease, autosomal dominant, 2

Tubulointerstitial kidney disease, autosomal dominant, 2

Synonyms
Medullary cystic kidney disease 1; Medullary cystic kidney disease, autosomal dominant; Polycystic kidneys, medullary type
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1
Autosomal dominant tubulointerstitial kidney disease – MUC1 (ADTKD-MUC1) is characterized by slowly progressive tubulointerstitial disease that leads to end-stage renal disease (ESRD) and the need for dialysis or kidney transplantation. The rate of loss of kidney function for individuals is variable within and between families, with a median age of onset of end-stage renal disease (ESRD) of 46 years (range: ages 20-70 years). There are no other systemic manifestations.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Anthony J Bleyer
Martina Živná
Kendrah Kidd
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Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADMCKD, ADMCKD1, ADTKD2, CA 15-3, CD227, Ca15-3, EMA, H23AG, KL-6, MAM6, MCD, MCKD, MCKD1, MUC-1, MUC-1/SEC, MUC-1/X, MUC1/ZD, PEM, PEMT, PUM, MUC1
    Summary: mucin 1, cell surface associated

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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