MCID: RNL120
MIFTS: 23

Renal Tubular Acidosis, Proximal, with Ocular Abnormalities and Mental Retardation

Categories: Genetic diseases, Nephrological diseases, Rare diseases, Neuronal diseases, Mental 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 75 29 6
Renal Tubular Acidosis, Proximal, with Ocular Abnormalities 57 13
Proximal Renal Tubular Acidosis with Ocular Abnormalities and Intellectual Disability 59
Acidosis, Tubular, Renal, Proximal, with Ocular Abnormalities and Mental Retardation 40
Proximal Renal Tubular Acidosis with Ocular Abnormalities 75
Autosomal Recessive Proximal Renal Tubular Acidosis 59
Rta, Proximal, Autosomal Recessive 57
Autosomal Recessive Proximal Rta 75
Ar Prta 59
Prta-Oa 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive proximal renal tubular acidosis
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

OMIM 57 604278
Orphanet 59 ORPHA93607
UMLS via Orphanet 74 C1970309
MedGen 42 C1970309
MeSH 44 D000141

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

UniProtKB/Swiss-Prot : 75 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 renal tubular 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 glaucoma and cataract

Description 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 10.1
2 renal tubular acidosis 10.1

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

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
growth retardation

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

Metabolic Features:
hyperchloremic acidosis

Head And Neck Eyes:
cataract
corneal opacities
glaucoma
band keratopathy

Neurologic Central Nervous System:
mental retardation

Hematology:
increased red cell osmotic resistance


Clinical features from OMIM:

604278

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 cataract 32 HP:0000518
3 band keratopathy 32 HP:0000585
4 intellectual disability 32 HP:0001249
5 growth delay 32 HP:0001510
6 hyperchloremic acidosis 32 HP:0001995
7 proximal renal tubular acidosis 32 HP:0002049
8 bicarbonate-wasting renal tubular acidosis 32 HP:0004910
9 increased red cell osmotic resistance 32 HP:0005546

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 Year
1
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. ( 10545938 )
1999

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

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

75
# 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
7 SLC4A4 p.Gly530Arg VAR_071661
8 SLC4A4 p.Leu566Pro VAR_071662

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

6
(show top 50) (show all 176)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC4A4 NM_001098484.2(SLC4A4): c.1026A> C (p.Arg342Ser) single nucleotide variant Pathogenic rs121908856 GRCh37 Chromosome 4, 72313423: 72313423
2 SLC4A4 NM_001098484.2(SLC4A4): c.1026A> C (p.Arg342Ser) single nucleotide variant Pathogenic rs121908856 GRCh38 Chromosome 4, 71447706: 71447706
3 SLC4A4 NM_001098484.2(SLC4A4): c.1661G> A (p.Arg554His) single nucleotide variant Pathogenic rs121908857 GRCh37 Chromosome 4, 72338445: 72338445
4 SLC4A4 NM_001098484.2(SLC4A4): c.1661G> A (p.Arg554His) single nucleotide variant Pathogenic rs121908857 GRCh38 Chromosome 4, 71472728: 71472728
5 SLC4A4 NM_003759.3(SLC4A4): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs121908858 GRCh37 Chromosome 4, 72205050: 72205050
6 SLC4A4 NM_003759.3(SLC4A4): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs121908858 GRCh38 Chromosome 4, 71339333: 71339333
7 SLC4A4 NM_003759.3(SLC4A4): c.258-11C> T single nucleotide variant Uncertain significance rs201092552 GRCh37 Chromosome 4, 72215618: 72215618
8 SLC4A4 NM_003759.3(SLC4A4): c.258-11C> T single nucleotide variant Uncertain significance rs201092552 GRCh38 Chromosome 4, 71349901: 71349901
9 SLC4A4 NM_003759.3(SLC4A4): c.676-4G> T single nucleotide variant Uncertain significance rs886059594 GRCh37 Chromosome 4, 72306329: 72306329
10 SLC4A4 NM_003759.3(SLC4A4): c.676-4G> T single nucleotide variant Uncertain significance rs886059594 GRCh38 Chromosome 4, 71440612: 71440612
11 SLC4A4 NM_003759.3(SLC4A4): c.1878G> A (p.Ser626=) single nucleotide variant Uncertain significance rs147661107 GRCh38 Chromosome 4, 71497536: 71497536
12 SLC4A4 NM_003759.3(SLC4A4): c.1878G> A (p.Ser626=) single nucleotide variant Uncertain significance rs147661107 GRCh37 Chromosome 4, 72363253: 72363253
13 SLC4A4 NM_003759.3(SLC4A4): c.2111T> C (p.Val704Ala) single nucleotide variant Uncertain significance rs148889712 GRCh37 Chromosome 4, 72397855: 72397855
14 SLC4A4 NM_003759.3(SLC4A4): c.2111T> C (p.Val704Ala) single nucleotide variant Uncertain significance rs148889712 GRCh38 Chromosome 4, 71532138: 71532138
15 SLC4A4 NM_003759.3(SLC4A4): c.2542T> C (p.Phe848Leu) single nucleotide variant Uncertain significance rs138942006 GRCh37 Chromosome 4, 72413417: 72413417
16 SLC4A4 NM_003759.3(SLC4A4): c.2542T> C (p.Phe848Leu) single nucleotide variant Uncertain significance rs138942006 GRCh38 Chromosome 4, 71547700: 71547700
17 SLC4A4 NM_003759.3(SLC4A4): c.2562+10T> A single nucleotide variant Uncertain significance rs779558159 GRCh37 Chromosome 4, 72413447: 72413447
18 SLC4A4 NM_003759.3(SLC4A4): c.2562+10T> A single nucleotide variant Uncertain significance rs779558159 GRCh38 Chromosome 4, 71547730: 71547730
19 SLC4A4 NM_003759.3(SLC4A4): c.3045C> T (p.Ser1015=) single nucleotide variant Uncertain significance rs139191615 GRCh38 Chromosome 4, 71563870: 71563870
20 SLC4A4 NM_003759.3(SLC4A4): c.3045C> T (p.Ser1015=) single nucleotide variant Uncertain significance rs139191615 GRCh37 Chromosome 4, 72429587: 72429587
21 SLC4A4 NM_003759.3(SLC4A4): c.3081A> G (p.Thr1027=) single nucleotide variant Uncertain significance rs770868684 GRCh38 Chromosome 4, 71567020: 71567020
22 SLC4A4 NM_003759.3(SLC4A4): c.3081A> G (p.Thr1027=) single nucleotide variant Uncertain significance rs770868684 GRCh37 Chromosome 4, 72432737: 72432737
23 SLC4A4 NM_003759.3(SLC4A4): c.*286A> G single nucleotide variant Uncertain significance rs531414310 GRCh38 Chromosome 4, 71568037: 71568037
24 SLC4A4 NM_003759.3(SLC4A4): c.*286A> G single nucleotide variant Uncertain significance rs531414310 GRCh37 Chromosome 4, 72433754: 72433754
25 SLC4A4 NM_003759.3(SLC4A4): c.*761T> C single nucleotide variant Uncertain significance rs576650368 GRCh38 Chromosome 4, 71568512: 71568512
26 SLC4A4 NM_003759.3(SLC4A4): c.*761T> C single nucleotide variant Uncertain significance rs576650368 GRCh37 Chromosome 4, 72434229: 72434229
27 SLC4A4 NM_003759.3(SLC4A4): c.*1003A> G single nucleotide variant Uncertain significance rs41265675 GRCh38 Chromosome 4, 71568754: 71568754
28 SLC4A4 NM_003759.3(SLC4A4): c.*1003A> G single nucleotide variant Uncertain significance rs41265675 GRCh37 Chromosome 4, 72434471: 72434471
29 SLC4A4 NM_003759.3(SLC4A4): c.*1065A> C single nucleotide variant Uncertain significance rs886059602 GRCh38 Chromosome 4, 71568816: 71568816
30 SLC4A4 NM_003759.3(SLC4A4): c.*1065A> C single nucleotide variant Uncertain significance rs886059602 GRCh37 Chromosome 4, 72434533: 72434533
31 SLC4A4 NM_003759.3(SLC4A4): c.*1228A> G single nucleotide variant Uncertain significance rs116277651 GRCh37 Chromosome 4, 72434696: 72434696
32 SLC4A4 NM_003759.3(SLC4A4): c.*1228A> G single nucleotide variant Uncertain significance rs116277651 GRCh38 Chromosome 4, 71568979: 71568979
33 SLC4A4 NM_003759.3(SLC4A4): c.*1438C> T single nucleotide variant Uncertain significance rs886059604 GRCh37 Chromosome 4, 72434906: 72434906
34 SLC4A4 NM_003759.3(SLC4A4): c.*1438C> T single nucleotide variant Uncertain significance rs886059604 GRCh38 Chromosome 4, 71569189: 71569189
35 SLC4A4 NM_003759.3(SLC4A4): c.*1450C> T single nucleotide variant Uncertain significance rs886059605 GRCh37 Chromosome 4, 72434918: 72434918
36 SLC4A4 NM_003759.3(SLC4A4): c.*1450C> T single nucleotide variant Uncertain significance rs886059605 GRCh38 Chromosome 4, 71569201: 71569201
37 SLC4A4 NM_003759.3(SLC4A4): c.*1821delA deletion Uncertain significance rs886059608 GRCh37 Chromosome 4, 72435289: 72435289
38 SLC4A4 NM_003759.3(SLC4A4): c.*1821delA deletion Uncertain significance rs886059608 GRCh38 Chromosome 4, 71569572: 71569572
39 SLC4A4 NM_003759.3(SLC4A4): c.*2002C> A single nucleotide variant Uncertain significance rs886059609 GRCh37 Chromosome 4, 72435470: 72435470
40 SLC4A4 NM_003759.3(SLC4A4): c.*2002C> A single nucleotide variant Uncertain significance rs886059609 GRCh38 Chromosome 4, 71569753: 71569753
41 SLC4A4 NM_003759.3(SLC4A4): c.*2028A> G single nucleotide variant Likely benign rs72854478 GRCh37 Chromosome 4, 72435496: 72435496
42 SLC4A4 NM_003759.3(SLC4A4): c.*2028A> G single nucleotide variant Likely benign rs72854478 GRCh38 Chromosome 4, 71569779: 71569779
43 SLC4A4 NM_003759.3(SLC4A4): c.*2184C> T single nucleotide variant Uncertain significance rs886059610 GRCh37 Chromosome 4, 72435652: 72435652
44 SLC4A4 NM_003759.3(SLC4A4): c.*2184C> T single nucleotide variant Uncertain significance rs886059610 GRCh38 Chromosome 4, 71569935: 71569935
45 SLC4A4 NM_003759.3(SLC4A4): c.*3713T> G single nucleotide variant Uncertain significance rs762831035 GRCh38 Chromosome 4, 71571464: 71571464
46 SLC4A4 NM_003759.3(SLC4A4): c.*3713T> G single nucleotide variant Uncertain significance rs762831035 GRCh37 Chromosome 4, 72437181: 72437181
47 SLC4A4 NM_003759.3(SLC4A4): c.*3994C> T single nucleotide variant Uncertain significance rs144720176 GRCh38 Chromosome 4, 71571745: 71571745
48 SLC4A4 NM_003759.3(SLC4A4): c.*3994C> T single nucleotide variant Uncertain significance rs144720176 GRCh37 Chromosome 4, 72437462: 72437462
49 SLC4A4 NM_003759.3(SLC4A4): c.158G> A (p.Gly53Glu) single nucleotide variant Uncertain significance rs781030949 GRCh38 Chromosome 4, 71339406: 71339406
50 SLC4A4 NM_003759.3(SLC4A4): c.158G> A (p.Gly53Glu) single nucleotide variant Uncertain significance rs781030949 GRCh37 Chromosome 4, 72205123: 72205123

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

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

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

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