|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
The carriers of point mutations in the human carbonic anhydrase II (HCAII) gene have been recognized to display carbonic anhydrase II deficiency syndrome (CADS).
|
31778702 |
2020 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families.
|
25720518 |
2015 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
Biomarker
|
disease |
BEFREE |
Small-molecule suppression of misfolding of mutated human carbonic anhydrase II linked to marble brain disease.
|
19415900 |
2009 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
Biomarker
|
disease |
BEFREE |
Thermodynamic interrogation of a folding disease. Mutant mapping of position 107 in human carbonic anhydrase II linked to marble brain disease.
|
18189416 |
2008 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
Biomarker
|
disease |
MGD |
Carbonic anhydrase isozyme-II-deficient mice lack the duodenal bicarbonate secretory response to prostaglandin E2.
|
16217040 |
2005 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
|
15300855 |
2004 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.
|
9143915 |
1997 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
In humans, deficiency of carbonic anhydrase II has been identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
|
8630510 |
1996 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
A point mutation in exon 3 (His 107-->Tyr) in two unrelated Japanese patients with carbonic anhydrase II deficiency with central nervous system involvement.
|
8834238 |
1996 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
GeneticVariation
|
disease |
CLINVAR |
Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.
|
8128957 |
1994 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.
|
1301935 |
1992 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
CausalMutation
|
disease |
CLINVAR |
A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.
|
1301935 |
1992 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis of human carbonic anhydrase II deficiency.
|
1542674 |
1992 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.
|
1928091 |
1991 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
GeneticVariation
|
disease |
UNIPROT |
Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.
|
1928091 |
1991 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
Biomarker
|
disease |
MGD |
N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.
|
3126501 |
1988 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
GeneticVariation
|
disease |
BEFREE |
N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome.
|
3126501 |
1988 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
Biomarker
|
disease |
BEFREE |
We recently identified a deficiency of CA II as the enzymatic basis for the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
|
3080873 |
1986 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
AlteredExpression
|
disease |
BEFREE |
Carbonic anhydrase II deficiency was demonstrated in erythrocyte hemolysates from the older two siblings of this neonate, and a 50% normal level of carbonic anhydrase II was demonstrated in the erythrocyte hemolysate from their father.
|
3081869 |
1986 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
Biomarker
|
disease |
BEFREE |
These observations demonstrate the generality of the findings that we reported earlier in one family and provide further evidence that a deficiency of carbonic anhydrase II is the enzymatic basis for the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
|
3925334 |
1985 |
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
|
0.990 |
Biomarker
|
disease |
CTD_human |
|
|
|