Distal renal tubular acidosis with anemia

General Information (adopted from Orphanet):

Synonyms, Signs: RTA, DISTAL, AUTOSOMAL RECESSIVE, WITH HEMOLYTIC ANEMIA RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY, INCLUDED
dRTA with anemia
Number of Symptoms 6
OrphanetNr: 93610
OMIM Id: 611590
ICD-10: N25.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Distal renal tubular acidosis
 -Rare genetic disease
 -Rare renal disease
Rare constitutional hemolytic anemia due to a red cell membrane anomaly
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000121) Nephrocalcinosis 15211439 IBIS 57 / 7739
2
(HPO:0008341) Distal renal tubular acidosis 15211439 IBIS 6 / 7739
3
(HPO:0002748) Rickets 15211439 IBIS 41 / 7739
4
(HPO:0001508) Failure to thrive 15211439 IBIS 454 / 7739
5
(HPO:0001942) Metabolic acidosis 15211439 IBIS 81 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tanphaichitr et al. (1998) described a Thai brother and sister with autosomal recessive distal RTA and hemolytic anemia. The male proband presented at age 3.5 years with a history of lethargy, anorexia, and slow growth. Physical examination showed ...
Molecular genetics OMIM Tanphaichitr et al. (1998) described novel SLC4A1 mutations in a Thai family with a recessive syndrome of distal renal tubular acidosis and hemolytic anemia in which red cell anion transport was normal. A brother and sister were triply ...
Population genetics OMIM Yenchitsomanus et al. (2002) found that all Thai patients with autosomal recessive dRTA caused by homozygosity for the G701D mutation originated from northeastern Thailand. Yenchitsomanus et al. (2003) confirmed the higher allele frequency of the G701D mutation in ...