DRTA1
MCID: RNL125
MIFTS: 31

Renal Tubular Acidosis, Distal, 1 (DRTA1)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Renal Tubular Acidosis, Distal, 1

MalaCards integrated aliases for Renal Tubular Acidosis, Distal, 1:

Name: Renal Tubular Acidosis, Distal, 1 57
Renal Tubular Acidosis, Distal, Autosomal Dominant 73 54
Renal Tubular Acidosis I 57 73
Rta, Classic Type 57 6
Autosomal Dominant Distal Renal Tubular Acidosis 58
Rta, Distal Type, Autosomal Dominant 57
Autosomal Dominant Rta Distal Type 73
Distal Renal Tubular Acidosis 1 57
Rta, Gradient Type 57
Rta Gradient Type 73
Rta Classic Type 73
Ad Drta 58
Ad-Drta 73
Drta1 57

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant distal renal tubular acidosis
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset adolescence to adulthood


HPO:

31
renal tubular acidosis, distal, 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

OMIM® 57 179800
OMIM Phenotypic Series 57 PS179800
MeSH 44 D000141
MESH via Orphanet 45 C538565
ICD10 via Orphanet 33 N25.8
UMLS via Orphanet 72 C2931885
Orphanet 58 ORPHA93608

Summaries for Renal Tubular Acidosis, Distal, 1

UniProtKB/Swiss-Prot : 73 Renal tubular acidosis, distal, autosomal dominant: An autosomal dominant disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification.

MalaCards based summary : Renal Tubular Acidosis, Distal, 1, also known as renal tubular acidosis, distal, autosomal dominant, is related to autosomal dominant distal renal tubular acidosis and slc4a1-associated distal renal tubular acidosis. An important gene associated with Renal Tubular Acidosis, Distal, 1 is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)). Affiliated tissues include kidney, and related phenotypes are muscle weakness and postnatal growth retardation

More information from OMIM: 179800 PS179800

Related Diseases for Renal Tubular Acidosis, Distal, 1

Diseases in the Distal Renal Tubular Acidosis family:

Renal Tubular Acidosis, Distal, 1 Hereditary Distal Renal Tubular Acidosis
Autosomal Dominant Distal Renal Tubular Acidosis Autosomal Recessive Distal Renal Tubular Acidosis
Renal Tubular Acidosis, Distal, Type 3

Diseases related to Renal Tubular Acidosis, Distal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant distal renal tubular acidosis 11.4
2 slc4a1-associated distal renal tubular acidosis 11.2
3 distal renal tubular acidosis 10.7
4 metabolic acidosis 10.5
5 hypokalemia 10.4
6 renal tubular acidosis 10.2
7 nephrocalcinosis 10.0

Graphical network of the top 20 diseases related to Renal Tubular Acidosis, Distal, 1:



Diseases related to Renal Tubular Acidosis, Distal, 1

Symptoms & Phenotypes for Renal Tubular Acidosis, Distal, 1

Human phenotypes related to Renal Tubular Acidosis, Distal, 1:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 postnatal growth retardation 31 HP:0008897
3 nephrocalcinosis 31 HP:0000121
4 osteomalacia 31 HP:0002749
5 hypocalcemia 31 HP:0002901
6 renal tubular acidosis 31 HP:0001947
7 periodic paralysis 31 HP:0003768
8 pathologic fracture 31 HP:0002756
9 periodic hypokalemic paresis 31 HP:0008153

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Kidneys:
nephrocalcinosis
nephrolithiasis

Skeletal:
rickets (occasional)
osteomalacia (occasional)

Hematology:
erythrocytosis, secondary

Laboratory Abnormalities:
hypercalciuria
hypocitraturia
hypokalemia (variable)
urine ph >6.4

Metabolic Features:
primary distal renal tubular acidosis
hyperchloremic hypokalemic metabolic acidosis (mild/compensated)

Clinical features from OMIM®:

179800 (Updated 05-Mar-2021)

Drugs & Therapeutics for Renal Tubular Acidosis, Distal, 1

Search Clinical Trials , NIH Clinical Center for Renal Tubular Acidosis, Distal, 1

Genetic Tests for Renal Tubular Acidosis, Distal, 1

Anatomical Context for Renal Tubular Acidosis, Distal, 1

MalaCards organs/tissues related to Renal Tubular Acidosis, Distal, 1:

40
Kidney

Publications for Renal Tubular Acidosis, Distal, 1

Articles related to Renal Tubular Acidosis, Distal, 1:

(show all 26)
# Title Authors PMID Year
1
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. 57 6
9600966 1998
2
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. 6 57
9312167 1997
3
Dominant inheritance in a family with familial renal tubular acidosis. 6 57
4116984 1972
4
Inherited renal acidoses. 57
17557941 2007
5
Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis. 6
12227829 2002
6
Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells. 6
11756190 2002
7
Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells. 6
10926824 2000
8
The primary hereditary form of distal renal tubular acidosis: clinical and genetic studies in 60-member kindred. 57
8062438 1994
9
Immune-related potassium-losing interstitial nephritis: a comparison with distal renal tubular acidosis. 6
8210309 1993
10
What was wrong with Tiny Tim? 57
1340779 1992
11
Stone disease in hereditary distal renal tubular acidosis. 57
7396320 1980
12
Familial absorptive hypercalciuria and renal tubular acidosis. 57
224701 1979
13
Inactive form of erythrocyte carbonic anhydrase B in patients with primary renal tubular acidosis. 57
99456 1978
14
Nephrocalcinosis: another cause of renal erythrocytosis. 6
698610 1978
15
Hereditary renal tubular acidosis. Report of a 64 member kindred with variable clinical expression including idiopathic hypercalciuria. 57
4834851 1974
16
Renal tubular acidosis. Mechanisms, classification and implications. 57
4901460 1969
17
Familial renal tubular acidosis. 57
5725743 1968
18
Renal tubular acidosis. A family with an autosomal dominant genetic defect in renal hydrogen ion transport, with proximal tubular and collecting duct dysfunction and increased metabolism of citrate and ammonia. 57
5658868 1968
19
Familial renal tubular acidosis. 57
5653635 1968
20
Renal tubular acidosis due to amphotericin B. 57
5634966 1968
21
Familial renal tubular acidosis revisited. 57
6025225 1967
22
Familial renal tubular acidosis. 57
13739450 1961
23
Autosomal dominant distal renal tubular acidosis and the AE1 gene. 54
10352215 1999
24
Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger. 54
9497368 1998
25
Sodium thiosulphate in the treatment of renal tubular acidosis I with nephrocalcinosis. 61
8009183 1994
26
The renal excretion of hydrogen ion in renal tubular acidosis. I. quantitative assessment of the response to ammonium chloride as an acid load. 61
13726399 1960

Variations for Renal Tubular Acidosis, Distal, 1

ClinVar genetic disease variations for Renal Tubular Acidosis, Distal, 1:

6 (show top 50) (show all 132)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC4A1 NM_000342.4(SLC4A1):c.1838C>T (p.Ser613Phe) SNV Pathogenic 17765 rs121912746 17:42332627-42332627 17:44255259-44255259
2 SLC4A1 NM_000342.4(SLC4A1):c.1765C>A (p.Arg589Ser) SNV Pathogenic 17766 rs121912745 17:42333076-42333076 17:44255708-44255708
3 SLC4A1 NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) SNV Pathogenic 17771 rs121912751 17:42328609-42328609 17:44251241-44251241
4 SLC4A1 SLC4A1, 13-BP INS, 9-BP DEL Indel Pathogenic 17777
5 SLC4A1 NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) SNV Pathogenic 17763 rs121912744 17:42333075-42333075 17:44255707-44255707
6 SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) SNV Pathogenic 17764 rs121912745 17:42333076-42333076 17:44255708-44255708
7 SLC4A1 NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) SNV Likely pathogenic 17764 rs121912745 17:42333076-42333076 17:44255708-44255708
8 SLC4A1 NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) SNV Conflicting interpretations of pathogenicity 17756 rs45562031 17:42338993-42338993 17:44261625-44261625
9 SLC4A1 NM_000342.4(SLC4A1):c.*1791C>T SNV Uncertain significance 892457 17:42326035-42326035 17:44248667-44248667
10 SLC4A1 NM_000342.4(SLC4A1):c.*1766C>T SNV Uncertain significance 892458 17:42326060-42326060 17:44248692-44248692
11 SLC4A1 NM_000342.4(SLC4A1):c.*1305G>A SNV Uncertain significance 892510 17:42326521-42326521 17:44249153-44249153
12 SLC4A1 NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) SNV Uncertain significance 255914 rs147390654 17:42337247-42337247 17:44259879-44259879
13 SLC4A1 NM_000342.4(SLC4A1):c.2193C>T (p.Ser731=) SNV Uncertain significance 737923 rs754017629 17:42330604-42330604 17:44253236-44253236
14 SLC4A1 NM_000342.4(SLC4A1):c.1626+7G>A SNV Uncertain significance 890132 17:42334711-42334711 17:44257343-44257343
15 SLC4A1 NM_000342.4(SLC4A1):c.1471G>A (p.Val491Met) SNV Uncertain significance 890133 17:42334873-42334873 17:44257505-44257505
16 SLC4A1 NM_000342.4(SLC4A1):c.1202T>G (p.Phe401Cys) SNV Uncertain significance 889517 17:42335434-42335434 17:44258066-44258066
17 SLC4A1 NM_000342.4(SLC4A1):c.1179C>T (p.Tyr393=) SNV Uncertain significance 890177 17:42335457-42335457 17:44258089-44258089
18 SLC4A1 NM_000342.4(SLC4A1):c.344C>T (p.Thr115Ile) SNV Uncertain significance 888575 17:42338008-42338008 17:44260640-44260640
19 SLC4A1 NM_000342.4(SLC4A1):c.319C>T (p.Leu107Phe) SNV Uncertain significance 890275 17:42338033-42338033 17:44260665-44260665
20 SLC4A1 NM_000342.4(SLC4A1):c.-59G>T SNV Uncertain significance 890328 17:42340293-42340293 17:44262925-44262925
21 SLC4A1 NM_000342.4(SLC4A1):c.2019G>A (p.Leu673=) SNV Uncertain significance 890658 17:42331902-42331902 17:44254534-44254534
22 SLC4A1 NM_000342.4(SLC4A1):c.261C>A (p.Asn87Lys) SNV Uncertain significance 890276 17:42338091-42338091 17:44260723-44260723
23 SLC4A1 NM_000342.3(SLC4A1):c.-62G>A SNV Uncertain significance 17754 rs387906565 17:42340296-42340296 17:44262928-44262928
24 SLC4A1 NM_000342.4(SLC4A1):c.697C>T (p.Arg233Cys) SNV Uncertain significance 889580 17:42336710-42336710 17:44259342-44259342
25 SLC4A1 NM_000342.4(SLC4A1):c.*1409T>C SNV Uncertain significance 891314 17:42326417-42326417 17:44249049-44249049
26 SLC4A1 NM_000342.4(SLC4A1):c.*984T>G SNV Uncertain significance 891378 17:42326842-42326842 17:44249474-44249474
27 SLC4A1 NM_000342.4(SLC4A1):c.*624G>A SNV Uncertain significance 891437 17:42327202-42327202 17:44249834-44249834
28 SLC4A1 NM_000342.4(SLC4A1):c.*544C>T SNV Uncertain significance 891438 17:42327282-42327282 17:44249914-44249914
29 SLC4A1 NM_000342.4(SLC4A1):c.*431T>C SNV Uncertain significance 891439 17:42327395-42327395 17:44250027-44250027
30 SLC4A1 NM_000342.4(SLC4A1):c.*265A>C SNV Uncertain significance 891520 17:42327561-42327561 17:44250193-44250193
31 SLC4A1 NM_000342.4(SLC4A1):c.2586C>A (p.Val862=) SNV Uncertain significance 891577 17:42328596-42328596 17:44251228-44251228
32 SLC4A1 NM_000342.4(SLC4A1):c.*936G>T SNV Uncertain significance 891629 17:42326890-42326890 17:44249522-44249522
33 SLC4A1 NM_000342.4(SLC4A1):c.*356G>C SNV Uncertain significance 891697 17:42327470-42327470 17:44250102-44250102
34 SLC4A1 NM_000342.4(SLC4A1):c.*54A>G SNV Uncertain significance 891521 17:42327772-42327772 17:44250404-44250404
35 SLC4A1 NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr) SNV Uncertain significance 891954 17:42335378-42335378 17:44258010-44258010
36 SLC4A1 NM_000342.4(SLC4A1):c.636A>G (p.Ser212=) SNV Uncertain significance 323515 rs886053000 17:42336923-42336923 17:44259555-44259555
37 SLC4A1 NM_000342.4(SLC4A1):c.1431+15G>T SNV Uncertain significance 323508 rs886052999 17:42335012-42335012 17:44257644-44257644
38 SLC4A1 NM_000342.4(SLC4A1):c.*977G>A SNV Uncertain significance 323489 rs886052993 17:42326849-42326849 17:44249481-44249481
39 SLC4A1 NM_000342.4(SLC4A1):c.*1316C>T SNV Uncertain significance 323482 rs886052991 17:42326510-42326510 17:44249142-44249142
40 SLC4A1 NM_000342.4(SLC4A1):c.*872G>C SNV Uncertain significance 323492 rs886052994 17:42326954-42326954 17:44249586-44249586
41 SLC4A1 NM_000342.4(SLC4A1):c.-65C>A SNV Uncertain significance 323523 rs886053001 17:42340299-42340299 17:44262931-44262931
42 SLC4A1 NM_000342.4(SLC4A1):c.*1273G>T SNV Uncertain significance 323484 rs769140134 17:42326553-42326553 17:44249185-44249185
43 SLC4A1 NM_000342.4(SLC4A1):c.*1198A>T SNV Uncertain significance 323487 rs886052992 17:42326628-42326628 17:44249260-44249260
44 SLC4A1 NM_000342.4(SLC4A1):c.1552C>T (p.Arg518Cys) SNV Uncertain significance 830029 rs868742796 17:42334792-42334792 17:44257424-44257424
45 SLC4A1 NM_000342.4(SLC4A1):c.2482-9C>T SNV Uncertain significance 323502 rs886052995 17:42328709-42328709 17:44251341-44251341
46 SLC4A1 NM_000342.4(SLC4A1):c.*1832G>A SNV Uncertain significance 323474 rs886052988 17:42325994-42325994 17:44248626-44248626
47 SLC4A1 NM_000342.4(SLC4A1):c.1574C>T (p.Ser525Phe) SNV Uncertain significance 438691 rs1555596013 17:42334770-42334770 17:44257402-44257402
48 SLC4A1 NM_000342.4(SLC4A1):c.*1693G>A SNV Uncertain significance 889077 17:42326133-42326133 17:44248765-44248765
49 SLC4A1 NM_000342.4(SLC4A1):c.*753C>T SNV Uncertain significance 889211 17:42327073-42327073 17:44249705-44249705
50 SLC4A1 NM_000342.4(SLC4A1):c.*353G>C SNV Uncertain significance 889271 17:42327473-42327473 17:44250105-44250105

UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Acidosis, Distal, 1:

73
# Symbol AA change Variation ID SNP ID
1 SLC4A1 p.Arg589Cys VAR_015104 rs121912745
2 SLC4A1 p.Arg589His VAR_015105 rs121912744
3 SLC4A1 p.Arg589Ser VAR_015106 rs121912745
4 SLC4A1 p.Ser613Phe VAR_015107 rs121912746
5 SLC4A1 p.Ala858Asp VAR_015108 rs121912751
6 SLC4A1 p.Gly609Arg VAR_058041 rs878853002

Expression for Renal Tubular Acidosis, Distal, 1

Search GEO for disease gene expression data for Renal Tubular Acidosis, Distal, 1.

Pathways for Renal Tubular Acidosis, Distal, 1

GO Terms for Renal Tubular Acidosis, Distal, 1

Sources for Renal Tubular Acidosis, Distal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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