MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:9316
Name:Osteopetrosis with renal tubular acidosis
Definition:
Alternative IDs:OMIM:259730
ParentIDs:MESH:D000141|MESH:D010022|MESH:D056806
TreeNumbers:C05.116.099.708.702.678/C536058 |C10.228.140.163.100.937/C536058 |C12.777.419.815.093/C536058 |C13.351.968.419.815.093/C536058 |C16.320.565.100.940/C536058 |C16.320.565.189.937/C536058 |C16.320.565.861.093/C536058 |C18.452.076.176.210/C536058 |C18.452.132.100.93
Synonyms:Carbonic anhydrase 2 deficiency |Carbonic Anhydrase II Deficiency |Guibaud Vainsel syndrome |Guibaud-Vainsel Syndrome |Marble brain disease |OPTB3 |Osteopetrosis, Autosomal Recessive 3 |OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C536058
MeSH: C536058
OMIM: 259730;
MSeqDR LSDB:  
Genes: CA2; RRM2B;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001903Anemia
3 HP:0002135Basal ganglia calcification
4 HP:0004437Cranial hyperostosis
5 HP:0000689Dental malocclusion
6 HP:0003034Diaphyseal sclerosis
7 HP:0008341Distal renal tubular acidosis
8 HP:0003148Elevated serum acid phosphatase
9 HP:0001978Extramedullary hematopoiesis
10 HP:0001433Hepatosplenomegaly
11 HP:0001249Intellectual disability
12 HP:0007807Optic nerve compression
13 HP:0011002Osteopetrosis
14 HP:0008153Periodic hypokalemic paresis
15 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
16 HP:0000572Visual loss
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000067.2(CA2):c.-181A>T760CA2Benignrs11261477RCV000363093; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886376130863761308:g.86376130A>T-C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_001293675.1(CA2):c.-360C>T760CA2Uncertain significancers886063146RCV000401229; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886376135863761358:g.86376135C>T-C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_001293675.1(CA2):c.-322G>A760CA2Uncertain significancers557422827RCV000299313; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886376173863761738:g.86376173G>A-C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_001293675.1(CA2):c.-314C>A760CA2Uncertain significancers570970117RCV000356455; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886376181863761818:g.86376181C>A-C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_001293675.1(CA2):c.-268_-266dup760CA2Uncertain significancers886063147RCV000259639; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886376226863762278:g.86376226_86376227insCCC-
NM_000067.3(CA2):c.-53G>T760CA2Uncertain significancers886063148RCV000317269; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886376258863762588:g.86376258G>T-
NM_000067.3(CA2):c.21C>A (p.Tyr7Ter)760CA2Pathogenicrs1554709677RCV000625902; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886376331863763318:g.86376331C>A-C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.40G>A (p.Glu14Lys)760CA2Uncertain significancers758659684RCV000369624; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886377506863775068:g.86377506G>A-
NM_000067.3(CA2):c.120T>G (p.Tyr40Ter)760CA2Pathogenicrs118203934RCV000000967; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886377586863775868:g.86377586T>GOMIM Allelic Variant:611492.0007C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.139_142CTGT[1] (p.Ser48fs)760CA2Uncertain significancers1564077060RCV000779563; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886377605863776088:g.86377605_86377608del-
NM_000067.3(CA2):c.232+1G>A760CA2Pathogenicrs573750741RCV000373455; RCV000726247; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007; MedGen:CN517202886377699863776998:g.86377699G>AOMIM Allelic Variant:611492.0006C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.319C>T (p.His107Tyr)760CA2Pathogenicrs118203933RCV000000964; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886386008863860088:g.86386008C>TOMIM Allelic Variant:611492.0004,UniProtKB (protein):P00918#VAR_001382C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.508-7G>A760CA2Uncertain significancers886063149RCV000277175; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886389342863893428:g.86389342G>A-
NM_000067.3(CA2):c.539C>T (p.Pro180Leu)760CA2Uncertain significancers886063150RCV000330141; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886389380863893808:g.86389380C>T-
NM_000067.3(CA2):c.562T>C (p.Leu188=)760CA2Benignrs703RCV000386953; RCV000242714; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007; MedGen:CN169374886389403863894038:g.86389403T>C-CN169374 not specified;
NM_000067.3(CA2):c.579C>G (p.Tyr193Ter)760CA2Likely pathogenic-1RCV000991390; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886389420863894208:g.86389420C>G-
NM_000067.3(CA2):c.648C>T (p.Ser216=)760CA2Conflicting interpretations of pathogenicityrs376387073RCV000290204; RCV000910104; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007; MedGen:CN517202886389489863894898:g.86389489C>T-
NM_000067.3(CA2):c.681del (p.Lys227fs)760CA2Likely pathogenicrs779869368RCV000779564; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886392914863929148:g.86392914_86392914del-
NM_000067.3(CA2):c.754A>G (p.Asn252Asp)760CA2Benign/Likely benignrs2228063RCV000000961; RCV000328868; RCV000961873; Nna; MedGen:C0345407,OMIM:259730,SNOMED CT:254122007; MedGen:CN517202886392989863929898:g.86392989A>GOMIM Allelic Variant:611492.0001,UniProtKB (protein):P00918#VAR_001384C0345407 259730 Osteopetrosis with renal tubular acidosis;
NM_000067.3(CA2):c.*17G>A760CA2Uncertain significancers140653628RCV000381335; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886393035863930358:g.86393035G>A-
NM_000067.3(CA2):c.*212A>G760CA2Likely benignrs73263450RCV000289207; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886393230863932308:g.86393230A>G-
NM_000067.3(CA2):c.*303C>T760CA2Uncertain significancers150089617RCV000341972; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886393321863933218:g.86393321C>T-
NM_000067.3(CA2):c.*374A>G760CA2Uncertain significancers886063151RCV000396538; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886393392863933928:g.86393392A>G-
NM_000067.3(CA2):c.*465A>C760CA2Uncertain significancers886063152RCV000283473; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886393483863934838:g.86393483A>C-
NM_000067.3(CA2):c.*562T>C760CA2Uncertain significancers886063153RCV000340863; NMedGen:C0345407,OMIM:259730,SNOMED CT:254122007886393580863935808:g.86393580T>C-
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