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:9312
Name:Osteopetrosis, Autosomal Recessive 7
Definition:
Alternative IDs:OMIM:612301
ParentIDs:MESH:D000361|MESH:D010022
TreeNumbers:C05.116.099.708.702.678/C567354 |C15.378.147.142/C567354 |C15.604.515.032/C567354 |C20.673.088/C567354
Synonyms:OPTB7 |Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia
Slim Mappings:Blood disease|Immune system disease|Lymphatic disease|Musculoskeletal disease
Reference: MedGen: C567354
MeSH: C567354
OMIM: 612301;
MSeqDR LSDB:  
Genes: POLG; TNFRSF11A;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0100671Abnormal trabecular bone morphology
3 HP:0001903Anemia
4 HP:0004313Decreased antibody level in bloodHP:0040284
5 HP:0001263Global developmental delay
NAMDC:  Mental retardation
6 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
7 HP:0000639Nystagmus
8 HP:0007807Optic nerve compression
9 HP:0011002Osteopetrosis
10 HP:0000529Progressive visual loss
11 HP:0006532Recurrent pneumonia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003839.3(TNFRSF11A):c.157G>C (p.Gly53Arg)8792TNFRSF11APathogenic121908659RCV000006685; NMedGen:C2676766,OMIM:612301, Orphanet:ORPHA178389186001548260015482OMIM Allelic Variant:603499.0007C2676766 612301 Osteopetrosis autosomal recessive 7;
NM_003839.3(TNFRSF11A):c.385C>T (p.Arg129Cys)8792TNFRSF11AUncertain significance121908657RCV000006683; RCV000355051; NMedGen:C2676766,OMIM:612301, Orphanet:ORPHA178389; MedGen:CN517202186002172560021725OMIM Allelic Variant:603499.0005,UniProtKB (protein):Q9Y6Q6#VAR_046789CN169374 not specified;
NM_003839.3(TNFRSF11A):c.508A>G (p.Arg170Gly)8792TNFRSF11APathogenic121908655RCV000006681; NMedGen:C2676766,OMIM:612301, Orphanet:ORPHA178389186002556160025561OMIM Allelic Variant:603499.0003,UniProtKB (protein):Q9Y6Q6#VAR_046791C2676766 612301 Osteopetrosis autosomal recessive 7;
NM_003839.3(TNFRSF11A):c.523T>C (p.Cys175Arg)8792TNFRSF11APathogenic121908656RCV000006682; NMedGen:C2676766,OMIM:612301, Orphanet:ORPHA178389186002718960027189OMIM Allelic Variant:603499.0004,UniProtKB (protein):Q9Y6Q6#VAR_046792C2676766 612301 Osteopetrosis autosomal recessive 7;
NM_003839.3(TNFRSF11A):c.718A>G (p.Lys240Glu)8792TNFRSF11AUncertain significance148185533RCV000764168; RCV000390248; RCV000764168; RCV000350950; RCV000764168; RCV000366417; NMedGen:C0432292,OMIM:174810, Orphanet:ORPHA85195,SNOMED CT:254153009; Human Phenotype Ontology:HP:0011002,MedGen:C0029454; MedGen:C2676766,OMIM:612301, Orphanet:ORPHA178389; MedGen:C0029401, Orphanet:ORPHA280110,SNOMED CT:2089002; MedGen:C4085251,OMIM:602080; M186002901460029014-CN169374 not specified;
NM_003839.3(TNFRSF11A):c.730G>T (p.Ala244Ser)8792TNFRSF11APathogenic121908658RCV000006684; NMedGen:C2676766,OMIM:612301, Orphanet:ORPHA178389186002902660029026OMIM Allelic Variant:603499.0006C2676766 612301 Osteopetrosis autosomal recessive 7;
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