Proximal renal tubular acidosis

Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.



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Total: 71 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(62.2%)		 8434624
 Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome).
Abu-Libdeh B, Fujimoto A, Ehinger M.
Am J Med Genet. 1993;45(3):358-60.
Microcephaly Small hand
Cleft Palate Congenital Hand Deformities External Ear Females Genes, Dominant Growth Disorders Homo sapiens Infant Kidney Microcephaly Syndrome
2
(41.7%)		 21750641
(3119438)
 Cystinosis presenting with findings of Bartter syndrome.
Ozkan B, Cayr A, Kosan C, Alp H.
J Clin Res Pediatr Endocrinol. 2011;3(2):101-4.
Carious teeth Frontal bossing
REN
Acidosis Bartter Disease Child, Preschool Cornea Crystallization Cystinosis Differential Diagnosis Fanconi Syndrome Homo sapiens Male Nephrotic Syndrome
3
(27.7%)		 25108849
 An uncommon presentation of Sjogren's syndrome and brucellosis.
Celik G, Ozturk E, Ipekci SH, Yilmaz S, Colkesen F, Baldane S, Kebapcilar L.
Transfus Apher Sci. 2014;51(1):77-80.
Proteinuria Xerostomia
Adult Brucellosis Disseminated Intravascular Coagulation Fanconi Syndrome Females Homo sapiens Hypokalemia Nephrogenic Diabetes Insipidus Sjogren's Syndrome
4
(21.2%)		 30899310
 Adult Idiopathic Renal Fanconi Syndrome: A Case Report.
Park DJ, Jang KS, Kim GH.
Electrolyte Blood Press. 2018;16(2):19-22.
Proteinuria Osteoporosis
CD59 EHHADH
4
(21.2%)		 30200082
(6133467)
 Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report.
Tu H, Mou L, Zhu L, Jiang Q, Gao DS, Hu Y.
Medicine (Baltimore). 2018;97(36):e12027.
Nephropathy Osteomalacia
Differential Diagnosis Fanconi Syndrome Homo sapiens Immunoglobulin kappa-Chains Kidney Diseases Male Middle Aged Paraproteinemias
4
(21.2%)		 28823583
 Proximal Renal Tubular Acidosis (Fanconi Syndrome) Induced by Apremilast: A Case Report.
Perrone D, Afridi F, King-Morris K, Komarla A, Kar P.
Am J Kidney Dis. 2017;70(5):729-731.
Proteinuria Arthritis
Acidosis Anti-Inflammatory Agents, Non-Steroidal Arthritis, Psoriatic Fanconi Syndrome Homo sapiens Hypokalemia Male Proteinuria
4
(21.2%)		 27540713
(5132132)
 Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
Piret SE, Gorvin CM, Trinh A, Taylor J, Lise S, Taylor JC, Ebeling PR, Thakker RV.
Am J Med Genet A. 2016;170(11):2988-2992.
Blindness Osteopetrosis
CA2 CLCN7
c|SUB|G|643|A;RS#:397515539|759253716 p|SUB|G|215|R;RS#:397515539
Alleles Child, Preschool Chloride Channels DNA Mutational Analysis Exome Females Genes, Dominant Genetic Association Studies Genotype High-Throughput Nucleotide Sequencing Homo sapiens Magnetic Resonance Imaging Male Mutation Osteopetrosis Phenotype
4
(21.2%)		 26554665
(4641361)
 A case of severe osteomalacia caused by Tubulointerstitial nephritis with Fanconi syndrome in asymptomotic primary biliary cirrhosis.
Yamaguchi S, Maruyama T, Wakino S, Tokuyama H, Hashiguchi A, Tada S, Homma K, Monkawa T, Thomas J, Miyashita K, Kurihara I, Yoshida T, Konishi K, Hayashi K, Hayashi M, Itoh H.
BMC Nephrol. 2015;16:187.
Osteoporosis
Adult Rickets Differential Diagnosis Fanconi Syndrome Females Fractures, Multiple Homo sapiens Middle Aged Nephritis, Interstitial
4
(21.2%)		 23901198
(3722635)
 Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature.
Hadipour F, Sarkheil P, Noruzinia M, Hadipour Z, Baghdadi T, Shafeghati Y.
Indian J Hum Genet. 2013;19(1):84-6.
Enlarged kidney Rickets
MRGPRF SLC2A2
4
(21.2%)		 20358137
 Klinefelter's syndrome with renal tubular acidosis: impact on height.
Jebasingh F, Paul TV, Spurgeon R, Abraham S, Jacob JJ.
Singapore Med J. 2010;51(2):e24-6.
Tall stature Rickets
Body Height Homo sapiens Klinefelter Syndrome Male Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 58

HPO ID Term # of case reports
HP:0001942 Metabolic acidosis 10
HP:0004322 Short stature 7
HP:0000518 Cataract 5
HP:0003355 Aminoaciduria 5
HP:0000501 Glaucoma 4
HP:0000585 Band keratopathy 4
HP:0001970 Tubulointerstitial nephritis 3
HP:0000093 Proteinuria 2
HP:0001508 Failure to thrive 2
HP:0001941 Acidosis 2
HP:0002148 Hypophosphatemia 2
HP:0002150 Hypercalciuria 2
HP:0002240 Hepatomegaly 2
HP:0002721 Immunodeficiency 2
HP:0002749 Osteomalacia 2
HP:0002900 Hypokalemia 2
HP:0003076 Glycosuria 2
HP:0003109 Hyperphosphaturia 2
HP:0000121 Nephrocalcinosis 1
HP:0000252 Microcephaly 1
HP:0000618 Blindness 1
HP:0000726 Dementia 1
HP:0000763 Sensory neuropathy 1
HP:0000787 Nephrolithiasis 1
HP:0000793 Membranoproliferative glomerulonephritis 1
HP:0000822 Hypertension 1
HP:0000829 Hypoparathyroidism 1
HP:0000867 Secondary hyperparathyroidism 1
HP:0000939 Osteoporosis 1
HP:0001182 Tapered finger 1
HP:0001249 Intellectual disability 1
HP:0001250 Seizures 1
HP:0001324 Muscle weakness 1
HP:0001601 Laryngomalacia 1
HP:0001947 Renal tubular acidosis 1
HP:0001953 Diabetic ketoacidosis 1
HP:0002020 Gastroesophageal reflux 1
HP:0002153 Hyperkalemia 1
HP:0002209 Sparse scalp hair 1
HP:0002514 Cerebral calcification 1
HP:0002719 Recurrent infections 1
HP:0002878 Respiratory failure 1
HP:0002912 Methylmalonic acidemia 1
HP:0003128 Lactic acidosis 1
HP:0003149 Hyperuricosuria 1
HP:0003323 Progressive muscle weakness 1
HP:0003470 Paralysis 1
HP:0003537 Hypouricemia 1
HP:0003546 Exercise intolerance 1
HP:0005575 Hemolytic-uremic syndrome 1
HP:0007560 Unusual dermatoglyphics 1
HP:0010550 Paraplegia 1
HP:0011002 Osteopetrosis 1
HP:0011741 Secondary hyperaldosteronism 1
HP:0012588 Steroid-resistant nephrotic syndrome 1
HP:0032368 Acidemia 1
HP:0100546 Carotid artery stenosis 1
HP:0200055 Small hand 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID