Autosomal recessive proximal renal tubular acidosis

General Information (adopted from Orphanet):

Synonyms, Signs: RTA, PROXIMAL, AUTOSOMAL RECESSIVE
AR pRTA
Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit
Number of Symptoms 12
OrphanetNr: 93607
OMIM Id: 604278
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0004910) Bicarbonate-wasting renal tubular acidosis 3 / 7739
2
 (HPO:0002049) Proximal renal tubular acidosis 8 / 7739
3
 (HPO:0000585) Band keratopathy 8 / 7739
4
 (HPO:0000518) Cataract 454 / 7739
5
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
6
 (HPO:0007957) Corneal opacity 84 / 7739
7
 (HPO:0000501) Glaucoma 180 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0001510) Growth delay 295 / 7739
10
 (HPO:0005546) Increased red cell osmotic resistance 1 / 7739
11
 (HPO:0001995) Hyperchloremic acidosis 4 / 7739
12
 (OMIM) Normal distal tubule acid excretion 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Winsnes et al. (1979) reported the cases of 2 brothers with severe hyperchloremic acidosis, a maximum tubular capacity for bicarbonate reabsorption about half normal, growth retardation, mental retardation, nystagmus, cataract, corneal opacities, glaucoma, and defects in the enamel ...
Molecular genetics OMIM Igarashi et al. (1999) identified a homozygous arg298-to-ser mutation in the SLC4A4 gene (R298S; 603345.0001) in the patient originally described by Igarashi et al. (1994). In a second female, who presented at age 2 years with short stature, ...