ADTKD4
MCID: TBL033
MIFTS: 28
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Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 (ADTKD4)
Categories:
Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:
Name: Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
57
Characteristics:Orphanet epidemiological data:58
ren-related autosomal dominant tubulointerstitial kidney disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
normal hemoglobin levels observed in fourth and fifth decades of life, if renal failure not severe HPO:31
tubulointerstitial kidney disease, autosomal dominant, 4:
Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Nephrological diseases Endocrine diseases Blood diseases
Orphanet: 58
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OMIM® :
57
Autosomal dominant tubulointerstitial kidney disease-4 (ADTKD4) is a progressive renal disorder characterized by early-onset anemia and increased serum uric acid with a bland urinalysis and without proteinuria. Although the anemia tends to improve with age, progressive renal insufficiency results in end-stage kidney disease between 40 and 70 years. Renal ultrasound may show small echogenic kidneys, and biopsy shows tubular atrophy and interstitial fibrosis, sometimes with cysts and secondary glomerulosclerosis (summary by Zivna et al., 2009).
For discussion of the revised nomenclature and genetic heterogeneity of ADTKD, see ADTKD1 (162000). (613092) (Updated 05-Mar-2021)
MalaCards based summary : Tubulointerstitial Kidney Disease, Autosomal Dominant, 4, also known as hyperuricemic nephropathy, familial juvenile, 2, is related to autosomal dominant tubulointerstitial kidney disease due to ren mutations and ren-related kidney disease. An important gene associated with Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 is REN (Renin). Affiliated tissues include kidney, and related phenotypes are anemia and hyperuricemia UniProtKB/Swiss-Prot : 73 Familial juvenile hyperuricemic nephropathy 2: A renal disease characterized by juvenile onset of hyperuricemia, slowly progressive renal failure and anemia. |
Human phenotypes related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:31 (show all 8)
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MalaCards organs/tissues related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:40
Kidney
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Articles related to Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:
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ClinVar genetic disease variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:6 (show all 33)
UniProtKB/Swiss-Prot genetic disease variations for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4:73
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Search
GEO
for disease gene expression data for Tubulointerstitial Kidney Disease, Autosomal Dominant, 4.
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