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:9313
Name:OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
Definition:
Alternative IDs:DO:DOID:0110940
ParentIDs:MESH:D010022
TreeNumbers:C05.116.099.708.702.678/615085
Synonyms:OPTB8
Slim Mappings:Musculoskeletal disease
Reference: MedGen: 615085
MeSH: 615085
OMIM: 615085;
MSeqDR LSDB:  
Genes: SLC25A4; SNX10;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001903Anemia
3 HP:0010628Facial palsy
4 HP:0001508Failure to thrive
5 HP:0011968Feeding difficulties
6 HP:0002007Frontal bossing
7 HP:0002240Hepatomegaly
8 HP:0000256Macrocephaly
9 HP:0000648Optic atrophy
10 HP:0011002Osteopetrosis
11 HP:0001744Splenomegaly
12 HP:0001873Thrombocytopenia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001199835.1(SNX10):c.46C>T (p.Arg16Ter)29887SNX10Pathogenicrs587777490RCV000128452; NMONDO:MONDO:0014040,MedGen:C3554478,OMIM:615085, Orphanet:66772640061626400616CT7:g.26400616C>TClinGen:CA163269,OMIM:614780.0002C3554478 615085 Osteopetrosis, autosomal recessive 8;
NM_013322.3(SNX10):c.151C>T (p.Arg51Ter)29887SNX10Likely pathogenicrs1353879401RCV000991381; NMONDO:MONDO:0014040,MedGen:C3554478,OMIM:615085, Orphanet:66772640419426404194CT7:g.26404194C>T-
NM_001199835.1(SNX10):c.152G>A (p.Arg51Gln)29887SNX10Pathogenicrs398123011RCV000033149; NMONDO:MONDO:0014040,MedGen:C3554478,OMIM:615085, Orphanet:66772640419526404195GA7:g.26404195G>AClinGen:CA130726,UniProtKB:Q9Y5X0#VAR_069302,OMIM:614780.0001C3554478 615085 Osteopetrosis, autosomal recessive 8;
MSeqDR Portal