Renal tubular acidosis type 3 is an autosomal recessive disorder due to carboanhydrase 2, gene CA2, deficiency. It is characterized by impaired acidification in proximal and distal tubules, osteopterosis type 3, and cerebral calcifications.
1. |
Lotan D et al. (2006) Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome. |
2. |
Fathallah DM et al. (1997) Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus. |
3. |
Hu PY et al. (1997) Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis. |
4. |
Soda H et al. (1996) A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement. |
5. |
Aramaki S et al. (1993) Carbonic anhydrase II deficiency in three unrelated Japanese patients. |
6. |
Soda H et al. (1995) Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2, (Y40X). |
7. |
Whyte MP et al. (1980) Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters. |
8. |
Ohlsson A et al. (1980) Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabian families. |
9. |
Bourke E et al. (1981) Renal tubular acidosis and osteopetrosis in siblings. |
10. |
Sly WS et al. (1983) Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. |
11. |
Vainsel M et al. (1972) Osteopetrosis associated with proximal and distal tubular acidosis. |
12. |
Guibaud P et al. (1972) [Osteopetrosis and renal tubular acidosis. 2 cases of this association in a sibship]. |
13. |
Sly WS et al. (1985) Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. |
14. |
Al Rajeh S et al. (1988) The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters. |
15. |
Cochat P et al. (1987) [Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases]. |
16. |
Ohlsson A et al. (1986) Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. |
17. |
Sundaram V et al. (1986) Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation. |
18. |
Strisciuglio P et al. (1990) Variable clinical presentation of carbonic anhydrase deficiency: evidence for heterogeneity? |
20. |
Roth DE et al. (1992) Molecular basis of human carbonic anhydrase II deficiency. |
21. |
Hu PY et al. (1992) A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries. |
22. |
Borthwick KJ et al. (2003) A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. |
23. |
OMIM.ORG article Omim 259730 |
24. |
Orphanet article Orphanet ID 2785 |