PedAM

Pediatric Disease Annotations & Medicines


	renal tubular acidosis

Disease ID	243
Disease	renal tubular acidosis
Definition	A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.
Synonym	acidosis renal tubular acidosis renal tubules acidosis tubular renal acidosis, renal hyperchloremic acidosis, renal tubular acidosis, renal tubular [disease/finding] acidosis, renal, tubular renal acidosis tubular renal tubular acidosis (disorder) renal tubular acidosis, nos renal tubule acidosis rta rta - renal tubular acidosis rta, nos tubular renal acidosis
OMIM	OMIM:612149
DOID	DOID:14219
UMLS	C0001126
MeSH	D000141
SNOMED-CT	SNOMEDCT_US_2016_09_01:1776003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:40) C1527336 \| sjogren's syndrome \| 8 C0030443 \| periodic paralysis \| 3 C0029454 \| osteopetrosis \| 3 C0027709 \| nephrocalcinosis \| 3 C0029442 \| osteomalacia \| 2 C0238358 \| hypokalemic periodic paralysis \| 2 C0011334 \| caries \| 2 C1527336 \| sjogren syndrome \| 2 C0027726 \| nephrotic syndrome \| 1 C0037889 \| hereditary spherocytosis \| 1 C0023364 \| leptospirosis \| 1 C0017662 \| membranoproliferative glomerulonephritis \| 1 C0155550 \| neural deafness \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0019202 \| wilson's disease \| 1 C0018784 \| sensorineural hearing loss \| 1 C0017980 \| renal diabetes \| 1 C0002871 \| anemia \| 1 C0221002 \| primary hyperparathyroidism \| 1 C0022735 \| klinefelter's syndrome \| 1 C0040156 \| thyrotoxicosis \| 1 C0035579 \| rickets \| 1 C0022681 \| medullary sponge kidney \| 1 C0005940 \| bone disease \| 1 C0409974 \| lupus erythematosus \| 1 C0392525 \| nephrolithiasis \| 1 C0042870 \| vitamin d deficiency \| 1 C0017668 \| focal segmental glomerulosclerosis \| 1 C1704375 \| hypophosphatemic rickets \| 1 C0235618 \| proliferative glomerulonephritis \| 1 C0024143 \| lupus nephritis \| 1 C0018784 \| sensorineural deafness \| 1 C0033806 \| pseudohypoparathyroidism \| 1 C0020437 \| hypercalcemia \| 1 C0042870 \| vitamin d defic \| 1 C0011848 \| diabetes insipidus \| 1 C0011334 \| dental caries \| 1 C0011847 \| diabetes \| 1 C0022681 \| sponge kidney \| 1 C0155550 \| nerve deafness \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) SLC4A1 \| 6521 \| CTD_human SLC4A4 \| 8671 \| CTD_human RBFOX2 \| 23543 \| OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:119) 359 \| AQP2 \| DISEASES 55644 \| OSGEP \| DISEASES 5106 \| PCK2 \| DISEASES 479 \| ATP12A \| DISEASES 973 \| CD79A \| DISEASES 26235 \| FBXL4 \| DISEASES 6500 \| SKP1 \| DISEASES 525 \| ATP6V1B1 \| DISEASES 3217 \| HOXB7 \| DISEASES 7374 \| UNG \| DISEASES 84693 \| MCEE \| DISEASES 65266 \| WNK4 \| DISEASES 3630 \| INS \| DISEASES 50617 \| ATP6V0A4 \| DISEASES 6737 \| TRIM21 \| DISEASES 182 \| JAG1 \| DISEASES 759 \| CA1 \| DISEASES 4853 \| NOTCH2 \| DISEASES 2012 \| EMP1 \| DISEASES 6741 \| SSB \| DISEASES 4069 \| LYZ \| DISEASES 23531 \| MMD \| DISEASES 6558 \| SLC12A2 \| DISEASES 2201 \| FBN2 \| DISEASES 495 \| ATP4A \| DISEASES 9132 \| KCNQ4 \| DISEASES 23523 \| CABIN1 \| DISEASES 23476 \| BRD4 \| DISEASES 4036 \| LRP2 \| DISEASES 5593 \| PRKG2 \| DISEASES 10686 \| CLDN16 \| DISEASES 10723 \| SLC12A7 \| DISEASES 6550 \| SLC9A3 \| DISEASES 259 \| AMBP \| DISEASES 10312 \| TCIRG1 \| DISEASES 5172 \| SLC26A4 \| DISEASES 6523 \| SLC5A1 \| DISEASES 51458 \| RHCG \| DISEASES 3487 \| IGFBP4 \| DISEASES 5972 \| REN \| DISEASES 5741 \| PTH \| DISEASES 1420 \| CRYGC \| DISEASES 5205 \| ATP8B1 \| DISEASES 760 \| CA2 \| DISEASES 9056 \| SLC7A7 \| DISEASES 3242 \| HPD \| DISEASES 1636 \| ACE \| DISEASES 84661 \| DPY30 \| DISEASES 9497 \| SLC4A7 \| DISEASES 552 \| AVPR1A \| DISEASES 6340 \| SCNN1G \| DISEASES 762 \| CA4 \| DISEASES 2299 \| FOXI1 \| DISEASES 7369 \| UMOD \| DISEASES 2119 \| ETV5 \| DISEASES 65125 \| WNK1 \| DISEASES 3291 \| HSD11B2 \| DISEASES 5105 \| PCK1 \| DISEASES 6569 \| SLC34A1 \| DISEASES 2118 \| ETV4 \| DISEASES 6514 \| SLC2A2 \| DISEASES 7481 \| WNT11 \| DISEASES 26276 \| VPS33B \| DISEASES 6524 \| SLC5A2 \| DISEASES 1187 \| CLCNKA \| DISEASES 27445 \| PCLO \| DISEASES 63894 \| VIPAS39 \| DISEASES 4306 \| NR3C2 \| DISEASES 10950 \| BTG3 \| DISEASES 766 \| CA7 \| DISEASES 5905 \| RANGAP1 \| DISEASES 57835 \| SLC4A5 \| DISEASES 8645 \| KCNK5 \| DISEASES 2993 \| GYPA \| DISEASES 10724 \| MGEA5 \| DISEASES 23315 \| SLC9A8 \| DISEASES 4514 \| MT-CO3 \| DISEASES 779 \| CACNA1S \| DISEASES 142680 \| SLC34A3 \| DISEASES 6993 \| DYNLT1 \| DISEASES 55811 \| ADCY10 \| DISEASES 3766 \| KCNJ10 \| DISEASES 57127 \| RHBG \| DISEASES 23632 \| CA14 \| DISEASES 4952 \| OCRL \| DISEASES 7809 \| BSND \| DISEASES 1104 \| RCC1 \| DISEASES 3339 \| HSPG2 \| DISEASES 229 \| ALDOB \| DISEASES 2203 \| FBP1 \| DISEASES 8789 \| FBP2 \| DISEASES 1188 \| CLCNKB \| DISEASES 1184 \| CLCN5 \| DISEASES 1041 \| CDSN \| DISEASES 765 \| CA6 \| DISEASES 8029 \| CUBN \| DISEASES 353 \| APRT \| DISEASES 2592 \| GALT \| DISEASES 5256 \| PHKA2 \| DISEASES 83959 \| SLC4A11 \| DISEASES 551 \| AVP \| DISEASES 265 \| AMELX \| DISEASES 1497 \| CTNS \| DISEASES 1186 \| CLCN7 \| DISEASES 5091 \| PC \| DISEASES 65010 \| SLC26A6 \| DISEASES 25974 \| MMACHC \| DISEASES 57282 \| SLC4A10 \| DISEASES 8671 \| SLC4A4 \| DISEASES 9498 \| SLC4A8 \| DISEASES 846 \| CASR \| DISEASES 83697 \| SLC4A9 \| DISEASES 5333 \| PLCD1 \| DISEASES 326625 \| MMAB \| DISEASES 7421 \| VDR \| DISEASES 8972 \| MGAM \| DISEASES 9990 \| SLC12A6 \| DISEASES 567 \| B2M \| DISEASES 246734 \| NPCDR1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	243
Disease	renal tubular acidosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:42) HP:0002900 \| Hypokalemia \| 6 HP:0001942 \| Metabolic acidosis \| 6 HP:0001941 \| acidemia \| 6 HP:0003470 \| Inability to move \| 5 HP:0000121 \| Nephrocalcinosis \| 3 HP:0011002 \| Osteopetrosis \| 3 HP:0003768 \| Periodic paralysis \| 3 HP:0000407 \| sensorineural hearing loss \| 2 HP:0000365 \| Hearing impairment \| 2 HP:0002749 \| Osteomalacia \| 2 HP:0000670 \| Dental caries \| 2 HP:0002148 \| Hypophosphataemia \| 2 HP:0012405 \| Hypocitraturia \| 1 HP:0000097 \| focal glomerulosclerosis \| 1 HP:0000100 \| Nephrosis \| 1 HP:0000852 \| Pseudohypoparathyroidism \| 1 HP:0001996 \| Chronic metabolic acidosis \| 1 HP:0001995 \| Hyperchloremic acidosis \| 1 HP:0004912 \| Hypophosphatemic rickets \| 1 HP:0000787 \| Renal calculi \| 1 HP:0001901 \| Abnormally shaped erythrocytes \| 1 HP:0001903 \| Anemia \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0000793 \| Membranoproliferative glomerulonephritis \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0002203 \| Respiratory paralysis \| 1 HP:0003355 \| Aminoaciduria \| 1 HP:0003127 \| Low urine calcium levels \| 1 HP:0012408 \| Medullary nephrocalcinosis \| 1 HP:0002748 \| Rickets \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0005976 \| Hyperkalemic metabolic acidosis \| 1 HP:0001987 \| Hyperammonemia \| 1 HP:0000873 \| Diabetes insipidus \| 1 HP:0002150 \| Hypercalcinuria \| 1 HP:0004724 \| Calcium nephrolithiasis \| 1 HP:0008200 \| Primary hyperparathyroidism \| 1 HP:0004319 \| Mineralocorticoid insufficiency \| 1 HP:0010972 \| Anemia of inadequate production \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0003159 \| Hyperoxaluria \| 1 HP:0001510 \| Growth deficiency \| 1

Disease ID	243
Disease	renal tubular acidosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:25) C1839611 \| n syndrome C1332124 \| nephrogenic diabetes insipidus C0920350 \| hashimoto's thyroiditis C0520463 \| chronic active hepatitis C0520463 \| active chronic hepatitis C0451641 \| urolithiasis C0400936 \| autoimmune liver disease C0392525 \| renal lithiasis C0392525 \| nephrolithiasis C0238358 \| hypokalaemic periodic paralysis C0235394 \| wasting C0085786 \| fibrosing alveolitis C0040156 \| thyrotoxicosis C0035579 \| rickets C0030517 \| parathyroid diseases C0029713 \| immaturity C0029464 \| osteosclerosis C0029454 \| osteopetrosis C0029442 \| osteomalacia C0027709 \| nephrocalcinosis C0026848 \| myopathy C0024141 \| le syndrome C0020550 \| hyperthyroidism C0005940 \| bone disease C0004775 \| bartter's syndrome
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:9) C0029454 \| osteopetrosis \| 3 C0027709 \| nephrocalcinosis \| 3 C1839611 \| n syndrome \| 2 C0029442 \| osteomalacia \| 2 C0235394 \| wasting \| 1 C0035579 \| rickets \| 1 C0392525 \| nephrolithiasis \| 1 C0005940 \| bone disease \| 1 C0040156 \| thyrotoxicosis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121912748	20068363	6521	SLC4A1	umls:C0001126	BeFree	Recessive renal tubular acidosis in Filipinos is usually caused by SLC4A1 mutations, commonly G701D.	0.142337686	2010	SLC4A1	17	44253327	C	T

GWASdb Annotation(Total Genotypes:6)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
22	36204303	rs5750178	NM_001031695,RBFOX2	NM_001082576,RBFOX2	NM_001082577,RBFOX2	NM_014309,RBFOX2	NM_001082578,RBFOX2	NM_001082579,RBFOX2	ENST00000405616,ENSG00000100320	ENST00000405409,ENSG00000100320	ENST00000441153,ENSG00000100320	ENST00000338644,ENSG00000100320	ENST00000404365,ENSG00000100320	ENST00000533335,ENSG00000100320	ENST00000449924,ENSG00000100320	ENST00000414461,ENSG00000100320	ENST00000262829,ENSG00000100320	ENST00000397303,ENSG00000100320	ENST00000359369,ENSG00000100320	ENST00000531522,ENSG00000100320	ENST00000416721,ENSG00000100320	ENST00000438146,ENSG00000100320	ENST00000408983,ENSG00000100320	ENST00000491982,ENSG00000100320	ENST00000397305,ENSG00000100320	NA	NA	chr22,36200001,36210000,chr22,21580001,21590000,274,Hi-C	chr22,36200001,36210000,chr1,223760001,223770000,5,Hi-C	NA	Gln3-primary,1.5179	LM69,3.3484	LM79,2.2835	LM199,1.2884	LM201,1.4215	NA	NA
22	36306266	rs6000032	NM_001082578,RBFOX2	NM_001082579,RBFOX2	ENST00000359369,ENSG00000100320	ENST00000438146,ENSG00000100320	ENST00000408983,ENSG00000100320	CHMM	TFP.JUN	TFP.FOS	MCV-29	NA	chr22,36300001,36310000,chr22,36510001,36520000,50,Hi-C	chr22,36300001,36310000,chrX,30650001,30660000,6,Hi-C	chr22,36300001,36310000,chr22,25750001,25760000,10,Hi-C	chr22,36300001,36310000,chr18,74290001,74300000,6,Hi-C	chr22,36300001,36310000,chr18,5580001,5590000,6,Hi-C	chr22,36300001,36310000,chr2,205230001,205240000,6,Hi-C	chr22,36300001,36310000,chr22,36370001,36380000,7,Hi-C	chr22,36300001,36310000,chr22,37530001,37540000,7,Hi-C	NA	LM154,6.9298	PPARG,1.7522	TEAD1,1.2806	Fos,4.4227	Tax/CREB,1.3798	NA	NA	NA	NA	NA	NA	0.000	-0.173	-0.737	F1	A
22	36311770	rs5750200	NM_001082578,RBFOX2	NM_001082579,RBFOX2	ENST00000359369,ENSG00000100320	ENST00000438146,ENSG00000100320	ENST00000408983,ENSG00000100320	TFP.TRIM28	TFP.YY1	TFP.EP300	TFP.RAD21	TFP.ZNF263	TFP.TBP	CHMM	MCV-38	NA	chr22,36310001,36320000,chr13,98250001,98260000,5,Hi-C	chr22,36310001,36320000,chr12,18100001,18110000,10,Hi-C	NA	Bas1-primary,1.414	Gcn4-DBD-primary,1.4354	Gcn4-DBD-primary,1.2811	Hmbox1_2674,2.7032	Irx2_0900,2.9896	NA	NA	NA	NA	NA	NA	0.000	0.287	0.881	GM0	G	NA	NA
22	36347646	rs5756012	NM_001082578,RBFOX2	NM_001082579,RBFOX2	ENST00000438146,ENSG00000100320	ENST00000408983,ENSG00000100320	NA	NA	chr22,36340001,36350000,chr10,49300001,49310000,66,Hi-C	NA	LM93,3.0952	LM128,6.1007	p300,3.778	ZID,2.6626	Pax-5,2.8488	NA	NA	NA	NA	NA	NA	0.978	1.616	2.33	H3K9me1	C	NA	NA	NA	0.070	0.080	0.050	0.080	0.060	Transcript	INTRONIC	492
22	36355358	rs2899258	NM_001082578,RBFOX2	NM_001082579,RBFOX2	ENST00000438146,ENSG00000100320	ENST00000408983,ENSG00000100320	TFP.GATA1	TFP.EP300	TFP.GATA2	MCV-3	NA	NA	NA	Cdx2_4272,2.2197	Dlx3_1030,33.2653	Hoxa9_2622,1.9947	Hoxb8_3780,2.4626	Hoxb9_3413,1.4508	NA	NA	NA	NA	NA	NA	0.006	0.075	0.684	GM0	T	NA	NA	NA	NA	NA	NA	NA	NA
22	36406534	rs5756039	NM_001082578,RBFOX2	NM_001082579,RBFOX2	ENST00000438146,ENSG00000100320	TFP.GATA2	TFP.EP300	CHMM	NA	chr22,36400001,36410000,chr20,48850001,48860000,6,Hi-C	NA	LM7,2.439	LM47,1.6088	LM47,7.4714	LM82,1.3964	LM103,4.9507	NA	NA	NA	NA	NA	NA	0.000	0.222	1.25	E/GM	G	NA	NA	NA	0.070	0.080	0.050	0.120	0.060	Transcript	INTRONIC

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:10)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0001126	amiloride	D000584	2609-46-3	acidosis, renal tubular	MESH:D000141	marker/mechanism	2770099
C0001126	azacitidine	D001374	320-67-2	acidosis, renal tubular	MESH:D000141	marker/mechanism	11219485
C0001126	cidofovir	C059262	113852-37-2	acidosis, renal tubular	MESH:D000141	marker/mechanism	11889450
C0001126	cyclophosphamide	D003520	50-18-0	acidosis, renal tubular	MESH:D000141	therapeutic	2870689
C0001126	foscarnet	D017245	4428-95-9	acidosis, renal tubular	MESH:D000141	marker/mechanism	8604715
C0001126	ifosfamide	D007069	3778-73-2	acidosis, renal tubular	MESH:D000141	marker/mechanism	8183542
C0001126	spironolactone	D013148	1952/1/7	acidosis, renal tubular	MESH:D000141	marker/mechanism	9148232
C0001126	streptozocin	D013311	18883-66-4	acidosis, renal tubular	MESH:D000141	marker/mechanism	11219485
C0001126	tacrolimus	D016559	109581-93-3	acidosis, renal tubular	MESH:D000141	marker/mechanism	7579739
C0001126	topiramate	C052342	97240-79-4	acidosis, renal tubular	MESH:D000141	marker/mechanism	14969660

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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