PRTA-OA
MCID: RNL120
MIFTS: 28

Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation (PRTA-OA)

Categories: Genetic diseases, Mental diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and...

MalaCards integrated aliases for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation:

Name: Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 57 72 29 6
Renal Tubular Acidosis, Proximal, with Ocular Abnormalities 57 13
Proximal Renal Tubular Acidosis with Ocular Abnormalities and Intellectual Disability 58
Acidosis, Tubular, Renal, Proximal, with Ocular Abnormalities and Mental Retardation 39
Proximal Renal Tubular Acidosis with Ocular Abnormalities 72
Autosomal Recessive Proximal Renal Tubular Acidosis 58
Rta, Proximal, Autosomal Recessive 57
Autosomal Recessive Proximal Rta 72
Ar Prta 58
Prta-Oa 72

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive proximal renal tubular acidosis
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases


External Ids:

OMIM® 57 604278
MeSH 44 D000141
UMLS via Orphanet 71 C1970309
Orphanet 58 ORPHA93607
MedGen 41 C1970309

Summaries for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and...

UniProtKB/Swiss-Prot : 72 Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation: An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, mental retardation, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is due to a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia.

MalaCards based summary : Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation, also known as renal tubular acidosis, proximal, with ocular abnormalities, is related to renal tubular acidosis, proximal and metabolic acidosis. An important gene associated with Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation is SLC4A4 (Solute Carrier Family 4 Member 4). Related phenotypes are intellectual disability and cataract

More information from OMIM: 604278

Related Diseases for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and...

Diseases related to Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, proximal 10.2
2 metabolic acidosis 10.2
3 renal tubular acidosis 10.2
4 cataract 10.2

Symptoms & Phenotypes for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and...

Human phenotypes related to Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 cataract 31 HP:0000518
3 growth delay 31 HP:0001510
4 glaucoma 31 HP:0000501
5 proximal renal tubular acidosis 31 HP:0002049
6 band keratopathy 31 HP:0000585
7 bicarbonate-wasting renal tubular acidosis 31 HP:0004910
8 hyperchloremic acidosis 31 HP:0001995
9 increased red cell osmotic resistance 31 HP:0005546

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
cataract
glaucoma
band keratopathy
corneal opacities

Metabolic Features:
hyperchloremic acidosis

Growth Other:
growth retardation

Genitourinary Kidneys:
proximal renal tubular acidosis
renal bicarbonate wasting
normal distal tubule acid excretion

Hematology:
increased red cell osmotic resistance

Neurologic Central Nervous System:
mental retardation

Clinical features from OMIM®:

604278 (Updated 05-Apr-2021)

Drugs & Therapeutics for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and...

Search Clinical Trials , NIH Clinical Center for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation

Genetic Tests for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and...

Genetic tests related to Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation:

# Genetic test Affiliating Genes
1 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation 29 SLC4A4

Anatomical Context for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and...

Publications for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and...

Articles related to Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation:

# Title Authors PMID Year
1
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. 57 6 61
10545938 1999
2
Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma. 57 6
11274232 2001
3
Persistent isolated proximal renal tubular acidosis--a systemic disease with a distinct clinical entity. 57
8142230 1994
4
Congenital persistent proximal type renal tubular acidosis in two brothers. 57
44068 1979
5
Renal tubular acidosis in infants and children. Clinical course, response to treatment, and prognosis. 57
5018384 1972
6
On the mechanism of renal potassium wasting in renal tubular acidosis associated with the Fanconi syndrome (type 2 RTA). 57
5101297 1971
7
[Severe proximal renal tubular acidosis with ocular abnormalities caused by SLC4A4 gene variation: a case report]. 61
32135600 2020

Variations for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and...

ClinVar genetic disease variations for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation:

6 (show top 50) (show all 149)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC4A4 NM_001098484.3(SLC4A4):c.1026A>C (p.Arg342Ser) SNV Pathogenic 6471 rs121908856 GRCh37: 4:72313423-72313423
GRCh38: 4:71447706-71447706
2 SLC4A4 NM_001098484.3(SLC4A4):c.1661G>A (p.Arg554His) SNV Pathogenic 6472 rs121908857 GRCh37: 4:72338445-72338445
GRCh38: 4:71472728-71472728
3 SLC4A4 NM_001098484.3(SLC4A4):c.254-37C>T SNV Pathogenic 6473 rs121908858 GRCh37: 4:72205050-72205050
GRCh38: 4:71339333-71339333
4 SLC4A4 NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) Deletion Pathogenic 545698 rs1553913019 GRCh37: 4:72306351-72306351
GRCh38: 4:71440634-71440634
5 SLC4A4 NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg) SNV Conflicting interpretations of pathogenicity 904400 GRCh37: 4:72316993-72316993
GRCh38: 4:71451276-71451276
6 SLC4A4 NM_001098484.3(SLC4A4):c.2925T>C (p.Ile975=) SNV Uncertain significance 758691 rs143924311 GRCh37: 4:72423590-72423590
GRCh38: 4:71557873-71557873
7 SLC4A4 NM_001098484.3(SLC4A4):c.1805A>G (p.Lys602Arg) SNV Uncertain significance 713807 rs72650362 GRCh37: 4:72338589-72338589
GRCh38: 4:71472872-71472872
8 SLC4A4 NM_001098484.3(SLC4A4):c.687G>A (p.Lys229=) SNV Uncertain significance 718314 rs147651604 GRCh37: 4:72222861-72222861
GRCh38: 4:71357144-71357144
9 SLC4A4 NM_001098484.3(SLC4A4):c.1942G>A (p.Glu648Lys) SNV Uncertain significance 349547 rs145378038 GRCh37: 4:72352703-72352703
GRCh38: 4:71486986-71486986
10 SLC4A4 NM_001098484.3(SLC4A4):c.1260C>G (p.Pro420=) SNV Uncertain significance 349544 rs137982286 GRCh37: 4:72316956-72316956
GRCh38: 4:71451239-71451239
11 SLC4A4 NM_001098484.3(SLC4A4):c.633G>A (p.Lys211=) SNV Uncertain significance 907730 GRCh37: 4:72222807-72222807
GRCh38: 4:71357090-71357090
12 SLC4A4 NM_001098484.3(SLC4A4):c.*2172A>G SNV Uncertain significance 907900 GRCh37: 4:72435640-72435640
GRCh38: 4:71569923-71569923
13 SLC4A4 NM_001098484.3(SLC4A4):c.*4017C>T SNV Uncertain significance 907974 GRCh37: 4:72437485-72437485
GRCh38: 4:71571768-71571768
14 SLC4A4 NM_001098484.3(SLC4A4):c.2051A>T (p.Asn684Ile) SNV Uncertain significance 780034 rs35891845 GRCh37: 4:72363294-72363294
GRCh38: 4:71497577-71497577
15 SLC4A4 NM_001098484.3(SLC4A4):c.*3574A>G SNV Uncertain significance 905900 GRCh37: 4:72437042-72437042
GRCh38: 4:71571325-71571325
16 SLC4A4 NM_001098484.3(SLC4A4):c.*3702T>C SNV Uncertain significance 905901 GRCh37: 4:72437170-72437170
GRCh38: 4:71571453-71571453
17 SLC4A4 NM_001098484.3(SLC4A4):c.329C>T (p.Thr110Met) SNV Uncertain significance 906719 GRCh37: 4:72205162-72205162
GRCh38: 4:71339445-71339445
18 SLC4A4 NM_001098484.3(SLC4A4):c.390-5C>T SNV Uncertain significance 906720 GRCh37: 4:72215624-72215624
GRCh38: 4:71349907-71349907
19 SLC4A4 NM_001098484.3(SLC4A4):c.2040C>A (p.Asn680Lys) SNV Uncertain significance 906798 GRCh37: 4:72363283-72363283
GRCh38: 4:71497566-71497566
20 SLC4A4 NM_001098484.3(SLC4A4):c.*552A>C SNV Uncertain significance 906841 GRCh37: 4:72434020-72434020
GRCh38: 4:71568303-71568303
21 SLC4A4 NM_001098484.3(SLC4A4):c.*695C>G SNV Uncertain significance 906842 GRCh37: 4:72434163-72434163
GRCh38: 4:71568446-71568446
22 SLC4A4 NM_001098484.3(SLC4A4):c.*734G>A SNV Uncertain significance 906843 GRCh37: 4:72434202-72434202
GRCh38: 4:71568485-71568485
23 SLC4A4 NM_001098484.3(SLC4A4):c.*748T>C SNV Uncertain significance 906844 GRCh37: 4:72434216-72434216
GRCh38: 4:71568499-71568499
24 SLC4A4 NM_001098484.3(SLC4A4):c.*1707A>G SNV Uncertain significance 906913 GRCh37: 4:72435175-72435175
GRCh38: 4:71569458-71569458
25 SLC4A4 NM_001098484.3(SLC4A4):c.*1956T>C SNV Uncertain significance 906914 GRCh37: 4:72435424-72435424
GRCh38: 4:71569707-71569707
26 SLC4A4 NM_001098484.3(SLC4A4):c.965+11C>T SNV Uncertain significance 907732 GRCh37: 4:72306501-72306501
GRCh38: 4:71440784-71440784
27 SLC4A4 NM_001098484.3(SLC4A4):c.2547T>G (p.Ile849Met) SNV Uncertain significance 907783 GRCh37: 4:72412171-72412171
GRCh38: 4:71546454-71546454
28 SLC4A4 NM_001098484.3(SLC4A4):c.2612T>G (p.Leu871Arg) SNV Uncertain significance 907784 GRCh37: 4:72412236-72412236
GRCh38: 4:71546519-71546519
29 SLC4A4 NM_001098484.3(SLC4A4):c.*880T>A SNV Uncertain significance 907830 GRCh37: 4:72434348-72434348
GRCh38: 4:71568631-71568631
30 SLC4A4 NM_001098484.3(SLC4A4):c.*989T>C SNV Uncertain significance 907831 GRCh37: 4:72434457-72434457
GRCh38: 4:71568740-71568740
31 SLC4A4 NM_001098484.3(SLC4A4):c.*1009A>G SNV Uncertain significance 907832 GRCh37: 4:72434477-72434477
GRCh38: 4:71568760-71568760
32 SLC4A4 NM_001098484.3(SLC4A4):c.*2126A>G SNV Uncertain significance 907898 GRCh37: 4:72435594-72435594
GRCh38: 4:71569877-71569877
33 SLC4A4 NM_001098484.3(SLC4A4):c.2674T>C (p.Phe892Leu) SNV Uncertain significance 349553 rs138942006 GRCh37: 4:72413417-72413417
GRCh38: 4:71547700-71547700
34 SLC4A4 NM_001098484.3(SLC4A4):c.*1438C>T SNV Uncertain significance 349582 rs886059604 GRCh37: 4:72434906-72434906
GRCh38: 4:71569189-71569189
35 SLC4A4 NM_001098484.3(SLC4A4):c.2485C>A (p.Leu829Ile) SNV Uncertain significance 349551 rs201643562 GRCh37: 4:72412109-72412109
GRCh38: 4:71546392-71546392
36 SLC4A4 NM_001098484.3(SLC4A4):c.2010G>A (p.Ser670=) SNV Uncertain significance 349548 rs147661107 GRCh37: 4:72363253-72363253
GRCh38: 4:71497536-71497536
37 SLC4A4 NM_001098484.3(SLC4A4):c.*708C>A SNV Uncertain significance 349568 rs886059600 GRCh37: 4:72434176-72434176
GRCh38: 4:71568459-71568459
38 SLC4A4 NM_001098484.3(SLC4A4):c.*2002C>A SNV Uncertain significance 349591 rs886059609 GRCh37: 4:72435470-72435470
GRCh38: 4:71569753-71569753
39 SLC4A4 NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=) SNV Uncertain significance 904401 GRCh37: 4:72319212-72319212
GRCh38: 4:71453495-71453495
40 SLC4A4 NM_001098484.3(SLC4A4):c.3226C>T (p.His1076Tyr) SNV Uncertain significance 904461 GRCh37: 4:72432750-72432750
GRCh38: 4:71567033-71567033
41 SLC4A4 NM_001098484.3(SLC4A4):c.3227A>G (p.His1076Arg) SNV Uncertain significance 904462 GRCh37: 4:72432751-72432751
GRCh38: 4:71567034-71567034
42 SLC4A4 NM_001098484.3(SLC4A4):c.*26G>A SNV Uncertain significance 904463 GRCh37: 4:72432790-72432790
GRCh38: 4:71567073-71567073
43 SLC4A4 NM_001098484.3(SLC4A4):c.*26G>T SNV Uncertain significance 904464 GRCh37: 4:72432790-72432790
GRCh38: 4:71567073-71567073
44 SLC4A4 NM_001098484.3(SLC4A4):c.*1067A>G SNV Uncertain significance 904526 GRCh37: 4:72434535-72434535
GRCh38: 4:71568818-71568818
45 SLC4A4 NM_001098484.3(SLC4A4):c.*1077C>A SNV Uncertain significance 904527 GRCh37: 4:72434545-72434545
GRCh38: 4:71568828-71568828
46 SLC4A4 NM_001098484.3(SLC4A4):c.*1184T>C SNV Uncertain significance 904528 GRCh37: 4:72434652-72434652
GRCh38: 4:71568935-71568935
47 SLC4A4 NM_001098484.3(SLC4A4):c.*2447A>G SNV Uncertain significance 904595 GRCh37: 4:72435915-72435915
GRCh38: 4:71570198-71570198
48 SLC4A4 NM_001098484.3(SLC4A4):c.*2863C>T SNV Uncertain significance 904596 GRCh37: 4:72436331-72436331
GRCh38: 4:71570614-71570614
49 SLC4A4 NM_001098484.3(SLC4A4):c.254-187G>A SNV Uncertain significance 905138 GRCh37: 4:72204900-72204900
GRCh38: 4:71339183-71339183
50 SLC4A4 NM_001098484.3(SLC4A4):c.1361C>T (p.Ala454Val) SNV Uncertain significance 905198 GRCh37: 4:72319250-72319250
GRCh38: 4:71453533-71453533

UniProtKB/Swiss-Prot genetic disease variations for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation:

72
# Symbol AA change Variation ID SNP ID
1 SLC4A4 p.Arg342Ser VAR_024751 rs121908856
2 SLC4A4 p.Ser471Leu VAR_024752
3 SLC4A4 p.Thr529Ser VAR_024753
4 SLC4A4 p.Arg554His VAR_024754 rs121908857
5 SLC4A4 p.Ala843Val VAR_024755
6 SLC4A4 p.Arg925Cys VAR_024756 rs120316463
7 SLC4A4 p.Gly530Arg VAR_071661
8 SLC4A4 p.Leu566Pro VAR_071662

Expression for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and...

Search GEO for disease gene expression data for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation.

Pathways for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and...

GO Terms for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and...

Sources for Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and...

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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