MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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Calcinosis (D002114)
Parent Node:
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Hyperostosis, Cortical, Congenital (D006958)
..Starting node
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Tumoral Calcinosis, Normophosphatemic, Familial (C566473)

       Child Nodes:



 Sister Nodes: 
..expandKenny-Caffey syndrome, Type 1 (C537021)
..expandKenny-Caffey syndrome, type 2 (C537020)
..expandPrenatal Cortical Hyperostosis, Lethal (C566184)
..expandTumoral Calcinosis, Hyperphosphatemic, Familial (C566870)
..expandTumoral Calcinosis, Normophosphatemic, Familial (C566473)
..expandWorth syndrome (C536748)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:12429
Name:Tumoral Calcinosis, Normophosphatemic, Familial
Definition:
Alternative IDs:OMIM:610455
ParentIDs:MESH:D002114|MESH:D006958
TreeNumbers:C05.116.099.708.479/C566473 |C05.116.540.400/C566473 |C16.614.465/C566473 |C18.452.174.130/C566473
Synonyms:Calcinosis, Tumoral, With Normophosphatemia |NFTC
Slim Mappings:Infant-newborn disease|Metabolic disease|Musculoskeletal disease
Reference: MedGen: C566473
MeSH: C566473
OMIM: 610455;
MSeqDR LSDB:  
Genes: SAMD9;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000951Abnormality of the skin
3 HP:0003761Calcinosis
4 HP:0000509Conjunctivitis
5 HP:0000230Gingivitis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_017654.4(SAMD9):c.4558G>T (p.Glu1520Ter)54809SAMD9Uncertain significancers200178876RCV000669924; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:5371579273085392730853CA7:g.92730853C>A-C1864861 610455 Tumoral calcinosis, familial, normophosphatemic;
NM_017654.4(SAMD9):c.4483A>G (p.Lys1495Glu)54809SAMD9Pathogenicrs121918554RCV000001288; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:5371579273092892730928TC7:g.92730928T>CClinGen:CA114859,UniProtKB:Q5K651#VAR_031529,OMIM:610456.0001C1864861 610455 Tumoral calcinosis, familial, normophosphatemic;
NM_017654.4(SAMD9):c.4331AAC[1] (p.Gln1445del)54809SAMD9Uncertain significancers755666547RCV000670841; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:5371579273107592731077AGTTA7:g.92731075_92731077del-C1864861 610455 Tumoral calcinosis, familial, normophosphatemic;
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter)54809SAMD9Benign/Likely benignrs199887936RCV000670395|RCV000962215; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:53715|MedGen:CN51720279273175992731760CCA7:g.92731759_92731760insA-C1864861 610455 Tumoral calcinosis, familial, normophosphatemic;
NM_017654.4(SAMD9):c.3505C>T (p.Gln1169Ter)54809SAMD9Uncertain significancers1554336918RCV000673236; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:5371579273190692731906GA7:g.92731906G>A-C1864861 610455 Tumoral calcinosis, familial, normophosphatemic;
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter)54809SAMD9Conflicting interpretations of pathogenicityrs572380130RCV000668331|RCV000784942; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:53715|MedGen:CN51720279273203092732030GT7:g.92732030G>T-
NM_017654.4(SAMD9):c.2509dup (p.Arg837fs)54809SAMD9Uncertain significancers1554337029RCV000674376; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:5371579273290192732902CCT7:g.92732901_92732902insT-C1864861 610455 Tumoral calcinosis, familial, normophosphatemic;
NM_017654.4(SAMD9):c.2198T>C (p.Ile733Thr)54809SAMD9Uncertain significancers778749748RCV000784939|RCV000784940; NMONDO:MONDO:0014888,MedGen:C4284088,OMIM:617053, Orphanet:494433|MONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:5371579273321392733213AG7:g.92733213A>G-
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)54809SAMD9Conflicting interpretations of pathogenicityrs375515095RCV000670510|RCV000902173; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:53715|MedGen:CN51720279273361092733611ATTA7:g.92733610_92733611del-C1864861 610455 Tumoral calcinosis, familial, normophosphatemic;
NM_017654.4(SAMD9):c.1171G>T (p.Gly391Ter)54809SAMD9Likely pathogenicrs1470207548RCV001728083; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:5371579273424092734240CA92734240-
NM_017654.4(SAMD9):c.1030C>T (p.Arg344Ter)54809SAMD9Pathogenicrs543007243RCV001194464; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:5371579273438192734381GA7:g.92734381G>AOMIM:610456.0005
NM_017654.4(SAMD9):c.460C>T (p.Gln154Ter)54809SAMD9Uncertain significancers767558735RCV000490326; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:5371579273495192734951GA7:g.92734951G>AClinGen:CA4343140
NM_017654.4(SAMD9):c.132del (p.Val45fs)54809SAMD9Likely pathogenicrs1554337424RCV000672720; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:5371579273527992735279CTC7:g.92735279_92735279del-C1864861 610455 Tumoral calcinosis, familial, normophosphatemic;
NM_017654.4(SAMD9):c.95del (p.His32fs)54809SAMD9Uncertain significancers1085307093RCV000490527; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:5371579273531692735316GTG7:g.92735316_92735316delClinGen:CA576706801C1864861 610455 Tumoral calcinosis, familial, normophosphatemic;
NM_017654.4(SAMD9):c.2T>C (p.Met1Thr)54809SAMD9Likely pathogenicrs201122403RCV000669155; NMONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455, Orphanet:306658, Orphanet:5371579273540992735409AG7:g.92735409A>G-C1864861 610455 Tumoral calcinosis, familial, normophosphatemic;
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