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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   distal renal tubular acidosis
  

Disease ID 980
Disease distal renal tubular acidosis
Definition
The genetic defect is in the anion exchange protein gene SLC4A1 resulting in impaired excretion of hydrogen ions or renal acids in the distal renal tubules.
Synonym
acidosis distal renal tubular
acidosis, renal tubular, type i
autosomal dominant distal renal tubular acidosis
classic distal renal tubular acidosis
classic type rta
classic type rtas
classical renal tubular acidosis
distal renal tubular acidosis (disorder)
gradient type rta
gradient type rtas
hypokalaemic distal renal tubular acidosis
hypokalemic distal renal tubular acidosis
hypokalemic distal renal tubular acidosis (disorder)
renal tubular acidosis 1
renal tubular acidosis distal
renal tubular acidosis distal
renal tubular acidosis distal type 1
renal tubular acidosis i
renal tubular acidosis type 1
renal tubular acidosis type i
renal tubular acidosis, distal
renal tubular acidosis, distal, autosomal dominant
renal tubular acidosis, type 1
renal tubular acidosis, type i
rta type i - type i renal tubular acidosis
rta, classic type
rta, distal type, autosomal dominant
rta, gradient type
rtas, classic type
rtas, gradient type
type i renal tubular acidosis
Orphanet
OMIM
UMLS
C1704380
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:31)
C1527336  |  sjogren's syndrome  |  6
C0027709  |  nephrocalcinosis  |  2
C0029442  |  osteomalacia  |  2
C0011847  |  diabetes  |  2
C0238358  |  hypokalemic periodic paralysis  |  1
C0017668  |  focal segmental glomerulosclerosis  |  1
C0392525  |  nephrolithiasis  |  1
C0155550  |  nerve deafness  |  1
C0155550  |  neural deafness  |  1
C0221002  |  primary hyperparathyroidism  |  1
C0011848  |  diabetes insipidus  |  1
C0042870  |  vitamin d deficiency  |  1
C0042870  |  vitamin d defic  |  1
C0235618  |  proliferative glomerulonephritis  |  1
C1527336  |  sjogren syndrome  |  1
C0030443  |  periodic paralysis  |  1
C0011849  |  diabetes mellitus  |  1
C0037889  |  hereditary spherocytosis  |  1
C0002871  |  anemia  |  1
C0023364  |  leptospirosis  |  1
C0017662  |  membranoproliferative glomerulonephritis  |  1
C0024143  |  lupus nephritis  |  1
C0017980  |  renal diabetes  |  1
C0018784  |  sensorineural deafness  |  1
C0022681  |  medullary sponge kidney  |  1
C0085261  |  proteus syndrome  |  1
C0033806  |  pseudohypoparathyroidism  |  1
C0020437  |  hypercalcemia  |  1
C0022681  |  sponge kidney  |  1
C0027726  |  nephrotic syndrome  |  1
C0018784  |  sensorineural hearing loss  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
6521  |  SLC4A1  |  UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 980
Disease distal renal tubular acidosis
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:8)
HP:0008897  |  Growth retardation as children
HP:0002901  |  Hypocalcemia
HP:0000121  |  Nephrocalcinosis
HP:0001947  |  Renal tubular acidosis
HP:0003768  |  Periodic paralysis
HP:0002756  |  Pathologic fracture
HP:0008153  |  Hypokalemic periodic paresis
HP:0002749  |  Osteomalacia
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:30)
Disease ID 980
Disease distal renal tubular acidosis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:13)
C1962972  |  proteinuria
C1318533  |  secondary erythrocytosis
C0392525  |  nephrolithiasis
C0235394  |  wasting
C0155550  |  nerve deafness
C0032827  |  potassium deficiency
C0030552  |  paresis
C0029442  |  osteomalacia
C0027709  |  nephrocalcinosis
C0022681  |  medullary sponge kidney
C0020502  |  hyperparathyroidism
C0018784  |  sensorineural hearing loss
C0005940  |  bone disease
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:7)
C0027709  |  nephrocalcinosis  |  2
C0235394  |  wasting  |  1
C0018784  |  sensorineural hearing loss  |  1
C0392525  |  nephrolithiasis  |  1
C0155550  |  nerve deafness  |  1
C0029442  |  osteomalacia  |  1
C0022681  |  medullary sponge kidney  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:12)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs102587192456433150617ATP6V0A4umls:C1704380BeFreeVal2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.0.0038001862015ATP6V0A47138771243AG
rs121912745127509886521SLC4A1umls:C1704380BeFreeA de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis.0.1311291172003SLC4A11744255708GT,A
rs121912748182662056521SLC4A1umls:C1704380BeFreeGenetic and hematological studies in 18 Thai patients with dRTA have shown that 12 of them (67%) carried SLC4A1 mutations (7 G701D/G701D, 3 SAO/G701D, and 2 G701D/A858D).0.1311291172008SLC4A11744253327CT
rs121912748170279186521SLC4A1umls:C1704380BeFreeCompound heterozygous anion exchanger 1 (AE1) SAO/G701D mutations result in distal renal tubular acidosis with Southeast Asian ovalocytosis.0.1311291172006SLC4A11744253327CT
rs121912748201518486521SLC4A1umls:C1704380BeFreeImpaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis.0.1311291172010SLC4A11744253327CT
rs121912748152114396521SLC4A1umls:C1704380BeFreeTwo novel compound heterozygous SLC4A1 G701D/S773P and SAO/R602H mutations were identified in Thai patients with AR dRTA.0.1311291172004SLC4A11744253327CT
rs121912751207993616521SLC4A1umls:C1704380BeFreeHemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D.0.1311291172010SLC4A11744251241GT
rs121912751182662056521SLC4A1umls:C1704380BeFreeGenetic and hematological studies in 18 Thai patients with dRTA have shown that 12 of them (67%) carried SLC4A1 mutations (7 G701D/G701D, 3 SAO/G701D, and 2 G701D/A858D).0.1311291172008SLC4A11744251241GT
rs121912751192891076521SLC4A1umls:C1704380BeFreeWe characterized three other AR dRTA-associated AE1 mutants found in SE Asia, S773P, Delta850 and A858D via transport experiments in AE1-expressing Xenopus oocytes.0.1311291172009SLC4A11744251241GT
rs121912751201518486521SLC4A1umls:C1704380BeFreeImpaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis.0.1311291172010SLC4A11744251241GT
rs121912753192891076521SLC4A1umls:C1704380BeFreeWe characterized three other AR dRTA-associated AE1 mutants found in SE Asia, S773P, Delta850 and A858D via transport experiments in AE1-expressing Xenopus oocytes.0.1311291172009SLC4A11744251583AG
rs121912753152114396521SLC4A1umls:C1704380BeFreeTwo novel compound heterozygous SLC4A1 G701D/S773P and SAO/R602H mutations were identified in Thai patients with AR dRTA.0.1311291172004SLC4A11744251583AG
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:2)
HP ID HP Name MP ID MP Name Annotation
HP:0008897Postnatal growth retardationMP:0011109lethality throughout fetal growth and development, incomplete penetrancethe appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
HP:0001947Renal tubular acidosisMP:0004154renal tubular necrosismorphological changes resulting from pathological death of renal tubular tissue; usually due to irreversible damage
Mapped by homologous gene(Total Items:8)
HP ID HP Name MP ID MP Name Annotation
HP:0008897Postnatal growth retardationMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0003768Periodic paralysisMP:0013723increased circulating tyrosine levelthe amount of the amino acid histidine in the blood is more than expected
HP:0008153Periodic hypokalemic paresisMP:0012551metabolic acidosisdecreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease
HP:0002749OsteomalaciaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000121NephrocalcinosisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002901HypocalcemiaMP:0014169decreased brown adipose tissue massdecreased physical bulk or volume of brown adipose tissue
HP:0002756Pathologic fractureMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001947Renal tubular acidosisMP:0013504increased embryonic tissue cell apoptosisincrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death
Disease ID 980
Disease distal renal tubular acidosis
Case(Waiting for update.)