### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CA5A) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "CA5A" "carbonic anhydrase VA, mitochondrial" "16" "q24.2" "unknown" "NC_000016.9" "UD_132378551169" "" "https://www.LOVD.nl/CA5A" "" "1" "1377" "763" "114761" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CA5A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-04-23 00:00:00" "00006" "2016-12-12 22:47:58" "00006" "2025-12-12 14:30:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001804" "CA5A" "carbonic anhydrase VA, mitochondrial" "001" "NM_001739.1" "" "NP_001730.1" "" "" "" "-56" "1028" "918" "87970112" "87921625" "00001" "2013-04-23 19:30:05" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00425" "CA5AD" "hyperammonemia, carbonic anhydrase VA deficiency (CA5AD)" "AR" "615751" "" "" "" "00006" "2014-06-18 22:03:51" "00006" "2025-12-12 14:27:24" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CA5A" "00425" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00001216" "" "" "" "1" "" "00073" "{PMID:van Karnebeek 2014:24530203}" "2-generation family, 2 affecteds (sister/brother), unaffected heterozygous carrier parents and sister" "F" "no" "Canada" ">06y" "0" "" "" "white" "" "00004528" "" "" "" "1" "" "00073" "{PMID:van Karnebeek 2014:24530203}" "2-generation family, 1 affectd, unaffected heterozygous carrier parents" "M" "no" "Russian Federation" "" "0" "" "" "" "" "00004529" "" "" "" "1" "" "00073" "{PMID:van Karnebeek 2014:24530203}" "2-generation family, 1 affected, unaffected heterozygous carrier parents and 2 sisters, possible affected brother not available for analysis" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00050549" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00470845" "" "" "" "1" "" "04927" "" "" "M" "no" "United States" "" "0" "" "" "Ireland;Pakistan" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00001216" "00425" "00004528" "00425" "00004529" "00425" "00050549" "00198" "00470845" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00425 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000015944" "00425" "00004528" "00073" "Familial, autosomal recessive" "" "a male child was born spontaneously at gestational age 36+2 weeks to non-consanguineous Russian parents. On Day 4 of life, he presented with lethargy, weight loss (15% below birth weight), jaundice, and tachypnea. Initial investigations showed hyperammonemia (316 and 422 mol/L), hyperlactatemia (8.1 mmol/L), mild hypoglycaemia (2.9 mmol/L), metabolic acidosis (pH: 7.16, pCO2 13 mm Hg, HCO3 - 5mEq/l), and ketonuria. Despite fluid resuscitation, sodium bicarbonate infusion, and antibiotics, the neonate’s clinical and biochemical status deteriorated; liver transaminases and synthetic function remained normal. Metabolic investigations are shown in Table 1; molecular analysis of CPS1 and NAGS did not reveal disease-causing mutations. Carglumic acid and biotin were initiated, along with protein-free formula and intravenous lipids; 12 hours later, the metabolic acidosis and hyperammonemia resolved. He resumed breastfeeding with normal weight gain, ammonia levels, and urine metabolites. Carglumic acid was stopped at 4 months of age, and the infant exhibited normal psychomotor development at age 6m with the use of sick-day formula during illness." "" "" "" "" "" "" "" "" "" "" "" "0000015945" "00425" "00004529" "00073" "Isolated (sporadic)" "" "born at term by Caesarian section (because of placenta previa) as the youngest of five children to first-cousin consanguineous Pakistani parents. 13m, after unremarkable development, he presented with a 1-day history of visual unresponsiveness. At admission, he was encephalopathic with hyperammonemia (258 μmol/L), hyperlactatemia (4.9 mmol/L), with a compensated metabolic acidosis (pH 7.43, pCO224.8 mm Hg, HCO3 -14 mEq/l). His encephalopathy improved after 48 hours of intravenous fluids and antibiotics administered for presumed meningo-encephalitis (cultures were negative). At the age of 16 months, he had a similar crisis; there were no signs of liver injury. Further metabolic investigations are shown in Table 1. Sodium benzoate and L-arginine were initiated with improvement after 48 hours, and he was discharged on a protein-restricted diet. Urea cycle defects (OTC [MIM 311250], CPS1 [MIM 237300], NAGS [MIM 2373100] deficiencies), and PC [MIM 266150], citrin [MIM 605814], and biotinidase [MIM 253260] deficiencies were excluded by molecular or enzymatic analyses. Following these two crises, he has demonstrated good developmental progress with only minor learning difficulties (no formal testing was available). He continues to have infrequent episodes of vomiting and ketoacidosis without hyperammonemia or lactic acidosis; the frequency of these episodes has not increased since the withdrawal of sodium benzoate and arginine therapy at 7y" "" "" "" "" "" "" "" "" "" "" "" "0000015946" "00425" "00001216" "00073" "Familial, autosomal recessive" "" "neonatal presentation of hyperammonemia, hyperlactatemia, hyperglycemia, abnormal organic aicd profile fitting PC, PCC and 3MCC deficiency; first patient worldwide, along with her brother, diagnosed with Carbonic Anhydrase VA deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000037161" "00198" "00050549" "00006" "Isolated (sporadic)" "" "hypertelorism, depressed nasal bridge, generalized hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000355732" "00198" "00470845" "04927" "Familial, autosomal recessive" "" "hyperammonemia, metabolic acidosis" "" "" "" "" "" "" "" "" "CA5AD" "hyperammonemia, metabolic acidosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000986" "00001216" "1" "00073" "00073" "2013-05-04 19:50:27" "00006" "2014-06-18 22:54:05" "SEQ;SEQ-NG-I" "DNA" "" "" "0000004443" "00004528" "1" "00073" "00073" "2014-01-28 22:36:12" "00006" "2014-06-18 22:07:46" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "Fibroblast" "" "0000004444" "00004529" "1" "00073" "00073" "2014-01-28 22:49:19" "00006" "2014-06-18 22:39:25" "SEQ;SEQ-NG-I" "DNA" "Fibroblast" "" "0000050494" "00050549" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000472511" "00470845" "1" "04927" "04927" "2025-12-11 20:32:22" "" "" "SEQ-NG" "RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000000986" "CA5A" "0000004443" "CA5A" "0000004444" "CA5A" "0000472511" "CA5A" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 19 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000017965" "3" "99" "16" "87925482" "87925482" "subst" "1.03605E-5" "00073" "CA5A_000003" "g.87925482A>G" "" "{PMID:van Karnebeek 2014:24530203}" "" "" "homozygous recessive in affected individuals, inherited from heterozygous parents" "Germline" "yes" "" "0" "" "" "g.87891876A>G" "" "pathogenic" "" "0000023422" "3" "79" "16" "87936031" "87936031" "subst" "0.000154531" "00073" "CA5A_000001" "g.87936031C>T" "" "{PMID:van Karnebeek 2014:24530203}" "" "" "Lead to skipping of exon 4" "Germline" "yes" "" "0" "" "" "g.87902425C>T" "" "likely pathogenic" "" "0000023423" "3" "99" "16" "87924924" "87929001" "del" "0" "00073" "CA5A_000002" "g.87924924_87929001del" "" "{PMID:van Karnebeek 2014:24530203}" "" "" "4078 bp deletion of exon 6" "Germline" "yes" "" "0" "" "" "g.87891318_87895395del" "" "pathogenic" "" "0000079474" "0" "90" "16" "87319450" "88669353" "del" "0" "00006" "BANP_000002" "g.87319450_88669353del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000272382" "0" "10" "16" "87925534" "87925534" "subst" "0.014041" "01943" "CA5A_000010" "g.87925534G>A" "" "" "" "CA5A(NM_001739.2):c.645C>T (p.F215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87891928G>A" "" "benign" "" "0000272383" "0" "10" "16" "87921846" "87921846" "subst" "0.18307" "01943" "CA5A_000009" "g.87921846T>A" "" "" "" "CA5A(NM_001739.2):c.807A>T (p.A269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87888240T>A" "" "benign" "" "0000559454" "0" "30" "16" "87921865" "87921865" "subst" "0.00134224" "01804" "CA5A_000011" "g.87921865C>T" "" "" "" "CA5A(NM_001739.2):c.788G>A (p.(Arg263His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87888259C>T" "" "likely benign" "" "0000559456" "0" "10" "16" "87938398" "87938398" "subst" "0.187494" "01943" "CA5A_000013" "g.87938398G>A" "" "" "" "CA5A(NM_001739.2):c.453C>T (p.P151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87904792G>A" "" "benign" "" "0000559457" "0" "50" "16" "87960407" "87960407" "subst" "4.06138E-5" "01943" "CA5A_000014" "g.87960407C>G" "" "" "" "CA5A(NM_001739.2):c.287G>C (p.W96S, p.(Trp96Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87926801C>G" "" "VUS" "" "0000559458" "0" "10" "16" "87960560" "87960560" "subst" "0.37197" "01943" "CA5A_000015" "g.87960560A>T" "" "" "" "CA5A(NM_001739.2):c.143-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87926954A>T" "" "benign" "" "0000657958" "0" "50" "16" "87925469" "87925469" "subst" "3.50298E-5" "01943" "CA5A_000016" "g.87925469G>A" "" "" "" "CA5A(NM_001367225.1):c.710C>T (p.P237L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87891863G>A" "" "VUS" "" "0000692172" "0" "30" "16" "87960526" "87960526" "subst" "9.67081E-6" "01943" "CA5A_000017" "g.87960526G>A" "" "" "" "CA5A(NM_001367225.1):c.168C>T (p.V56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726011" "0" "30" "16" "87969992" "87969992" "subst" "3.65453E-5" "01943" "CA5A_000018" "g.87969992G>A" "" "" "" "CA5A(NM_001367225.1):c.65C>T (p.P22L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807639" "0" "50" "16" "87925515" "87925515" "subst" "0" "01943" "CA5A_000019" "g.87925515G>A" "" "" "" "CA5A(NM_001367225.1):c.664C>T (p.P222S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893216" "0" "50" "16" "87925430" "87925430" "subst" "0.00315066" "02325" "CA5A_000020" "g.87925430T>C" "" "" "" "CA5A(NM_001739.2):c.749A>G (p.E250G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982140" "0" "90" "16" "87925458" "87925458" "subst" "0.000361426" "01804" "CA5A_000005" "g.87925458C>T" "" "" "" "CA5A(NM_001739.2):c.721G>A (p.(Glu241Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041416" "0" "50" "16" "87960407" "87960407" "subst" "4.06138E-5" "01804" "CA5A_000014" "g.87960407C>G" "" "" "" "CA5A(NM_001739.2):c.287G>C (p.W96S, p.(Trp96Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001061126" "11" "90" "16" "87936114" "87936114" "subst" "0" "04927" "CA5A_000021" "g.87936114G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.87902508G>A" "" "pathogenic (recessive)" "ACMG" "0001061127" "21" "90" "16" "87935580" "87935580" "subst" "0.000247857" "04927" "CA5A_000022" "g.87935580G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.87901974G>A" "" "pathogenic (recessive)" "ACMG" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CA5A ## Count = 19 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000017965" "00001804" "99" "697" "0" "697" "0" "c.697T>C" "r.(?)" "p.(Ser233Pro)" "6" "0000023422" "00001804" "79" "555" "0" "555" "0" "c.555G>A" "r.460_555del" "p.Leu154_Lys185del" "4" "0000023423" "00001804" "99" "619" "-3420" "774" "502" "c.619-3420_774+502del" "r.(del)" "p.(Asp207_Gln258del)" "6" "0000079474" "00001804" "00" "-699297" "0" "603203" "0" "c.-699297_*602285del" "r.0?" "p.0?" "" "0000272382" "00001804" "10" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Phe215=)" "" "0000272383" "00001804" "10" "807" "0" "807" "0" "c.807A>T" "r.(?)" "p.(Ala269=)" "" "0000559454" "00001804" "30" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263His)" "" "0000559456" "00001804" "10" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(Pro151=)" "" "0000559457" "00001804" "50" "287" "0" "287" "0" "c.287G>C" "r.(?)" "p.(Trp96Ser)" "" "0000559458" "00001804" "10" "143" "-9" "143" "-9" "c.143-9T>A" "r.(=)" "p.(=)" "" "0000657958" "00001804" "50" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Pro237Leu)" "" "0000692172" "00001804" "30" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Val56=)" "" "0000726011" "00001804" "30" "65" "0" "65" "0" "c.65C>T" "r.(?)" "p.(Pro22Leu)" "" "0000807639" "00001804" "50" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Pro222Ser)" "" "0000893216" "00001804" "50" "749" "0" "749" "0" "c.749A>G" "r.(?)" "p.(Glu250Gly)" "" "0000982140" "00001804" "90" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Glu241Lys)" "" "0001041416" "00001804" "50" "287" "0" "287" "0" "c.287G>C" "r.(?)" "p.(Trp96Ser)" "" "0001061126" "00001804" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(His158Tyr)" "" "0001061127" "00001804" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Leu186Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000000986" "0000017965" "0000004443" "0000023422" "0000004444" "0000023423" "0000050494" "0000079474" "0000472511" "0001061126" "0000472511" "0001061127"