autosomal recessive distal Renal tubular acidosis

RTADR not included

Also Known As:

Renal tubular acidosis, distal, autosomal recessive; Autosomal recessive distal renal tubular acidosis; RTA, distal, autosomal recessive; Renal Tubular Acidosis, Autosomal Recessive, With Preserved Hearing; Renal tubular acidosis, autosomal recessive with preserved hearing

Networked: 22 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Acidosis
2.	Hypercalciuria
3.	Nephrocalcinosis
4.	Hypokalemia
5.	Sensorineural Hearing Loss

Experts

1.	Sawasdee, Nunghathai: 3 articles (01/2019 - 07/2002)
2.	Yenchitsomanus, Pa-Thai: 3 articles (01/2019 - 01/2003)
3.	Vasuvattakul, Somkiat: 2 articles (01/2003 - 07/2002)
4.	Karet, F E: 2 articles (11/2002 - 11/2001)
5.	Smith, A N: 2 articles (11/2002 - 11/2001)
6.	Abraham, Georgi: 1 article (11/2019)
7.	Anupama, Priya Haridas: 1 article (11/2019)
8.	Anupama, Sneha Haridas: 1 article (11/2019)
9.	Shanmugasundaram, Lakshmi: 1 article (11/2019)
10.	Dong, Guanping: 1 article (07/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to autosomal recessive distal Renal tubular acidosis:

1.	dirhodium tetraacetate (DRTA)IBA 11/01/2019 - "Homozygous autosomal recessive distal renal tubular acidosis (dRTA) is a rare entity. " 07/01/2019 - "Autosomal recessive distal renal tubular acidosis (dRTA) is a rare condition, most cases of which are caused by genetic mutations. " 08/01/2013 - "Mutations in the ATP6V1B1 and the ATP6V0A4 genes cause primary autosomal-recessive distal renal tubular acidosis (dRTA). " 10/01/2010 - "We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular acidosis (dRTA) with sensorineural hearing loss. " 07/01/2010 - "In autosomal recessive distal renal tubular acidosis (DRTA), a substantial fraction of the patients have progressive bilateral sensorineural hearing loss. "
2.	Erythrocyte Anion Exchange Protein 1 (Band 3 Protein)IBA 01/01/2019 - "Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis." 07/01/2002 - "Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene." 10/31/2022 - "Mutations in solute carrier family 4 member 1 (SLC4A1) encoding anion exchanger 1 (AE1) are the most common cause of autosomal recessive distal renal tubular acidosis (AR dRTA) in Southeast Asians. " 10/31/2022 - "Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis." 01/01/2019 - "Two common mutations of the solute carrier family 4 member 1 (SLC4A1) gene, namely, Southeast Asian ovalocytosis (SAO) and band 3 Bangkok 1 (G701D), cause autosomal recessive distal renal tubular acidosis (AR dRTA) in ethnic Southeast Asian populations. "
3.	Proteins (Proteins, Gene)FDA Link 10/31/2022 - "Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis." 11/09/2001 - "Murine a4 has 833 residues and shows 85% amino acid identity to the human kidney-specific ATP6N1B protein in which loss-of-function alterations cause autosomal recessive distal renal tubular acidosis. " 01/01/2003 - "We have previously demonstrated that compound heterozygous (SAO/G701D) and homozygous (G701D/G701D) mutations of the anion exchanger 1 (AE1) gene, encoding erythroid and kidney AE1 proteins, cause autosomal recessive distal renal tubular acidosis (AR dRTA) in Thai patients. "
4.	Proton-Translocating ATPases (ATPase, H+)IBA 01/01/2003 - "A large proportion of autosomal recessive distal renal tubular acidosis (RTA) is associated with mutations in the ATP6B1 gene encoding the B1 subunit of H+-ATPase. " 01/01/2016 - "Mutations in the vacuolar-type H(+)-ATPase B1 subunit gene ATP6V1B1 cause autosomal-recessive distal renal tubular acidosis (dRTA). " 01/01/2015 - "Autosomal recessive distal renal tubular acidosis (dRTA) is associated with mutation in the ATP6B1 gene encoding the B1 subunit of H + -ATPase, one of the key membrane transporters for net acid excretion of α-intercalated cells of medullary collecting ducts. "
5.	Vacuolar Proton-Translocating ATPases (V-Type ATPase)IBA 05/01/2008 - "Mutations in the B1 subunit of the multisubunit vacuolar ATPase cause autosomal-recessive distal renal tubular acidosis and sensorineural deafness. " 09/04/2002 - "Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis."
6.	AcidsIBA 08/21/2012 - "Autosomal recessive distal renal tubular acidosis (dRTA) is a severe disorder of acid-base homeostasis, often accompanied by sensorineural deafness. " 01/01/2015 - "Autosomal recessive distal renal tubular acidosis (dRTA) is associated with mutation in the ATP6B1 gene encoding the B1 subunit of H + -ATPase, one of the key membrane transporters for net acid excretion of α-intercalated cells of medullary collecting ducts. "
7.	Chloride-Bicarbonate AntiportersIBA 05/26/1998 - "Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis."
8.	Membrane Transport Proteins (Biological Pump)IBA 01/01/2015 - "Autosomal recessive distal renal tubular acidosis (dRTA) is associated with mutation in the ATP6B1 gene encoding the B1 subunit of H + -ATPase, one of the key membrane transporters for net acid excretion of α-intercalated cells of medullary collecting ducts. "
9.	Protein Isoforms (Isoforms)IBA 09/04/2002 - "Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis."
10.	CalciumIBA 11/01/2002 - "Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased urinary calcium solubility, and impaired bone physiology and growth. "