Proximal renal tubular acidosis

General Information (adopted from Orphanet):

Synonyms, Signs: Renal tubular acidosis type 2
pRTA
isolated pRTA [IBIS]
Number of Symptoms 36
OrphanetNr: 47159
OMIM Id: 179830
604278
ICD-10: N25.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Primary renal tubular acidosis
 -Rare genetic disease
 -Rare renal disease

Comment:

Proximal renal tubular acidosis (pRTA) commonly occurs as a manifestation of a generalized defect in proximal renal tubular function (Fanconi syndrome), although pRTA also occurs as an isolated phenomenon (isolated pRTA) (PMID:15085340). PRTA is characterized by chronic hyperchloremic metabolic acidosis which results from a proximal tubular disorder of bicarbonate reclamation. The disease onset appears early and the symptoms occur in early infancy (PMID:15703948). While primary isolated pRTA is usually transient in infants or young children, permanent isolated pRTA is extremely rare. Permanent isolated pRTA is divided into two categories according to the clinical features: (1) short stature as the predominant clinical feature with no ocular abnormalities and (2) stunted growth, mental retardation and ocular abnormal (PMID:15085340). Involved genes: SLC4A4 (PMID:15085340);

Symptom Information: Sort by abundance 

1
 (HPO:0002039) Anorexia 15703948 IBIS 62 / 7739
2
 (HPO:0002019) Constipation 15703948 IBIS 194 / 7739
3
 (HPO:0002013) Vomiting 15703948 IBIS 191 / 7739
4
 (HPO:0007759) Opacification of the corneal stroma 15085340 IBIS 77 / 7739
5
 (HPO:0000585) Band keratopathy 15085340 IBIS 8 / 7739
6
 (HPO:0009917) Persistent pupillary membrane 15085340 IBIS 6 / 7739
7
 (HPO:0000518) Cataract 15085340 IBIS 454 / 7739
8
 (HPO:0007906) Increased intraocular pressure 15085340 IBIS 30 / 7739
9
 (HPO:0000501) Glaucoma 15085340 IBIS 180 / 7739
10
 (HPO:0001996) Chronic metabolic acidosis Very frequent [IBIS] 15703948 IBIS 3 / 7739
11
 (HPO:0001995) Hyperchloremic acidosis Very frequent [IBIS] 15703948 IBIS 4 / 7739
12
 (HPO:0004918) Hyperchloremic metabolic acidosis Very frequent [IBIS] 15703948 IBIS 6 / 7739
13
 (HPO:0001947) Renal tubular acidosis Very frequent [IBIS] 15703948 IBIS 21 / 7739
14
 (HPO:0004910) Bicarbonate-wasting renal tubular acidosis 15085340 IBIS 3 / 7739
15
 (HPO:0002049) Proximal renal tubular acidosis Very frequent [IBIS] 15703948 IBIS 8 / 7739
16
 (HPO:0004322) Short stature 15085340 IBIS 1232 / 7739
17
 (HPO:0001508) Failure to thrive Frequent [IBIS] 15703948 IBIS 454 / 7739
18
 (HPO:0002148) Hypophosphatemia 15703948 IBIS 43 / 7739
19
 (HPO:0002900) Hypokalemia 15703948 IBIS 45 / 7739
20
 (HPO:0003401) Paresthesia 15085340 IBIS 42 / 7739
21
 (HPO:0001249) Intellectual disability 15085340 IBIS 1089 / 7739
22
 (HPO:0002315) Headache 15085340 IBIS 175 / 7739
23
 (HPO:0000256) Macrocephaly 15085340 IBIS 298 / 7739
24
 (HPO:0000938) Osteopenia 15085340 IBIS 138 / 7739
25
 (HPO:0000478) Abnormality of the eye 15085340 IBIS 126 / 7739
26
 (HPO:0000682) Abnormality of dental enamel 15085340 IBIS 102 / 7739
27
 (HPO:0000097) Focal segmental glomerulosclerosis 15085340 IBIS 37 / 7739
28
 (HPO:0000092) Tubular atrophy 15085340 IBIS 28 / 7739
29
 (HPO:0005576) Tubulointerstitial fibrosis 15085340 IBIS 32 / 7739
30
 (HPO:0000103) Polyuria 15703948 IBIS 60 / 7739
31
 (HPO:0002514) Cerebral calcification 15085340 IBIS 89 / 7739
32
 (HPO:0002135) Basal ganglia calcification 15085340 IBIS 37 / 7739
33
 (HPO:0001510) Growth delay 15703948 IBIS 295 / 7739
34
 (MedDRA:10024574) Lipase increased 15085340 IBIS 1 / 7739
35
 (OMIM) Low serum bicarbonate 15085340 IBIS 2 / 7739
36
 (OMIM) Ocular abnormalities 15085340 IBIS 2 / 7739

Associated genes:

SLC4A4;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: