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:9311
Name:Osteopetrosis, Autosomal Recessive 6
Definition:
Alternative IDs:OMIM:611497
ParentIDs:MESH:D010022
TreeNumbers:C05.116.099.708.702.678/C566931
Synonyms:OPTB6 |Osteopetrosis, Autosomal Recessive, Intermediate Form
Slim Mappings:Musculoskeletal disease
Reference: MedGen: C566931
MeSH: C566931
OMIM: 611497;
MSeqDR LSDB:  
Genes: PLEKHM1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0100959Dense metaphyseal bands
3 HP:0004975Erlenmeyer flask deformity of the femurs
4 HP:0011002Osteopetrosis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_014798.2(PLEKHM1):c.296+1G>A9842PLEKHM1Pathogenic786205055RCV000000970; NMedGen:C1969093,OMIM:611497, Orphanet:ORPHA210110174355526543555265OMIM Allelic Variant:611466.0001C1969093 611497 Osteopetrosis autosomal recessive 6;
MSeqDR Portal