MCID: MLT033
MIFTS: 9

Multicentric Osteolysis Nephropathy

Categories: Rare diseases, Bone diseases, Nephrological diseases

Aliases & Classifications for Multicentric Osteolysis Nephropathy

MalaCards integrated aliases for Multicentric Osteolysis Nephropathy:

Name: Multicentric Osteolysis Nephropathy 53 29 6
Multicentric Carpo-Tarsal Osteolysis with or Without Nephropathy 53
Idiopathic Multicentric Osteolysis with or Without Nephropathy 53
Carnevale Canun Mendoza Syndrome 53

Classifications:



Summaries for Multicentric Osteolysis Nephropathy

MalaCards based summary : Multicentric Osteolysis Nephropathy, also known as multicentric carpo-tarsal osteolysis with or without nephropathy, is related to multicentric carpotarsal osteolysis syndrome, and has symptoms including wrist pain and ankle pain. An important gene associated with Multicentric Osteolysis Nephropathy is MAFB (MAF BZIP Transcription Factor B).

Related Diseases for Multicentric Osteolysis Nephropathy

Diseases related to Multicentric Osteolysis Nephropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 multicentric carpotarsal osteolysis syndrome 11.6

Symptoms & Phenotypes for Multicentric Osteolysis Nephropathy

UMLS symptoms related to Multicentric Osteolysis Nephropathy:


wrist pain, ankle pain

Drugs & Therapeutics for Multicentric Osteolysis Nephropathy

Search Clinical Trials , NIH Clinical Center for Multicentric Osteolysis Nephropathy

Genetic Tests for Multicentric Osteolysis Nephropathy

Genetic tests related to Multicentric Osteolysis Nephropathy:

# Genetic test Affiliating Genes
1 Multicentric Osteolysis Nephropathy 29 MAFB

Anatomical Context for Multicentric Osteolysis Nephropathy

Publications for Multicentric Osteolysis Nephropathy

Variations for Multicentric Osteolysis Nephropathy

ClinVar genetic disease variations for Multicentric Osteolysis Nephropathy:

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(show top 50) (show all 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAFB NM_005461.4(MAFB): c.184A> C (p.Thr62Pro) single nucleotide variant Pathogenic rs387907004 GRCh37 Chromosome 20, 39317307: 39317307
2 MAFB NM_005461.4(MAFB): c.184A> C (p.Thr62Pro) single nucleotide variant Pathogenic rs387907004 GRCh38 Chromosome 20, 40688667: 40688667
3 MAFB NM_005461.4(MAFB): c.208T> G (p.Ser70Ala) single nucleotide variant Pathogenic rs387907005 GRCh37 Chromosome 20, 39317283: 39317283
4 MAFB NM_005461.4(MAFB): c.208T> G (p.Ser70Ala) single nucleotide variant Pathogenic rs387907005 GRCh38 Chromosome 20, 40688643: 40688643
5 MAFB NM_005461.4(MAFB): c.209C> T (p.Ser70Leu) single nucleotide variant Pathogenic rs387907006 GRCh37 Chromosome 20, 39317282: 39317282
6 MAFB NM_005461.4(MAFB): c.209C> T (p.Ser70Leu) single nucleotide variant Pathogenic rs387907006 GRCh38 Chromosome 20, 40688642: 40688642
7 MAFB NM_005461.4(MAFB): c.211C> T (p.Pro71Ser) single nucleotide variant Pathogenic rs387907007 GRCh37 Chromosome 20, 39317280: 39317280
8 MAFB NM_005461.4(MAFB): c.211C> T (p.Pro71Ser) single nucleotide variant Pathogenic rs387907007 GRCh38 Chromosome 20, 40688640: 40688640
9 MAFB NM_005461.4(MAFB): c.212C> T (p.Pro71Leu) single nucleotide variant Pathogenic rs387907008 GRCh37 Chromosome 20, 39317279: 39317279
10 MAFB NM_005461.4(MAFB): c.212C> T (p.Pro71Leu) single nucleotide variant Pathogenic rs387907008 GRCh38 Chromosome 20, 40688639: 40688639
11 MAFB NM_005461.4(MAFB): c.161C> T (p.Ser54Leu) single nucleotide variant Pathogenic rs730880014 GRCh37 Chromosome 20, 39317330: 39317330
12 MAFB NM_005461.4(MAFB): c.161C> T (p.Ser54Leu) single nucleotide variant Pathogenic rs730880014 GRCh38 Chromosome 20, 40688690: 40688690
13 MAFB NM_005461.4(MAFB): c.*2008T> A single nucleotide variant Benign rs56049320 GRCh38 Chromosome 20, 40685871: 40685871
14 MAFB NM_005461.4(MAFB): c.*2008T> A single nucleotide variant Benign rs56049320 GRCh37 Chromosome 20, 39314511: 39314511
15 MAFB NM_005461.4(MAFB): c.*1737A> G single nucleotide variant Likely benign rs532037681 GRCh38 Chromosome 20, 40686142: 40686142
16 MAFB NM_005461.4(MAFB): c.*1737A> G single nucleotide variant Likely benign rs532037681 GRCh37 Chromosome 20, 39314782: 39314782
17 MAFB NM_005461.4(MAFB): c.*1679C> T single nucleotide variant Uncertain significance rs886056657 GRCh38 Chromosome 20, 40686200: 40686200
18 MAFB NM_005461.4(MAFB): c.*1679C> T single nucleotide variant Uncertain significance rs886056657 GRCh37 Chromosome 20, 39314840: 39314840
19 MAFB NM_005461.4(MAFB): c.*1519C> G single nucleotide variant Likely benign rs185930615 GRCh38 Chromosome 20, 40686360: 40686360
20 MAFB NM_005461.4(MAFB): c.*1519C> G single nucleotide variant Likely benign rs185930615 GRCh37 Chromosome 20, 39315000: 39315000
21 MAFB NM_005461.4(MAFB): c.*1212_*1213insGAGGA insertion Uncertain significance rs886056663 GRCh37 Chromosome 20, 39315306: 39315307
22 MAFB NM_005461.4(MAFB): c.*1212_*1213insGAGGA insertion Uncertain significance rs886056663 GRCh38 Chromosome 20, 40686666: 40686667
23 MAFB NM_005461.4(MAFB): c.*1210G> A single nucleotide variant Likely benign rs542788257 GRCh37 Chromosome 20, 39315309: 39315309
24 MAFB NM_005461.4(MAFB): c.*1210G> A single nucleotide variant Likely benign rs542788257 GRCh38 Chromosome 20, 40686669: 40686669
25 MAFB NM_005461.4(MAFB): c.*1019A> G single nucleotide variant Likely benign rs545693248 GRCh37 Chromosome 20, 39315500: 39315500
26 MAFB NM_005461.4(MAFB): c.*1019A> G single nucleotide variant Likely benign rs545693248 GRCh38 Chromosome 20, 40686860: 40686860
27 MAFB NM_005461.4(MAFB): c.*929dupA duplication Benign rs11482617 GRCh37 Chromosome 20, 39315590: 39315590
28 MAFB NM_005461.4(MAFB): c.*929dupA duplication Benign rs11482617 GRCh38 Chromosome 20, 40686950: 40686950
29 MAFB NM_005461.4(MAFB): c.*209A> C single nucleotide variant Uncertain significance rs886056672 GRCh37 Chromosome 20, 39316310: 39316310
30 MAFB NM_005461.4(MAFB): c.*209A> C single nucleotide variant Uncertain significance rs886056672 GRCh38 Chromosome 20, 40687670: 40687670
31 MAFB NM_005461.4(MAFB): c.*152G> C single nucleotide variant Likely benign rs553723079 GRCh37 Chromosome 20, 39316367: 39316367
32 MAFB NM_005461.4(MAFB): c.*152G> C single nucleotide variant Likely benign rs553723079 GRCh38 Chromosome 20, 40687727: 40687727
33 MAFB NM_005461.4(MAFB): c.-138G> T single nucleotide variant Uncertain significance rs755784104 GRCh38 Chromosome 20, 40688988: 40688988
34 MAFB NM_005461.4(MAFB): c.-138G> T single nucleotide variant Uncertain significance rs755784104 GRCh37 Chromosome 20, 39317628: 39317628
35 MAFB NM_005461.4(MAFB): c.-310G> A single nucleotide variant Likely benign rs567415398 GRCh38 Chromosome 20, 40689160: 40689160
36 MAFB NM_005461.4(MAFB): c.-310G> A single nucleotide variant Likely benign rs567415398 GRCh37 Chromosome 20, 39317800: 39317800
37 MAFB NM_005461.4(MAFB): c.*1849C> T single nucleotide variant Benign rs3577 GRCh38 Chromosome 20, 40686030: 40686030
38 MAFB NM_005461.4(MAFB): c.*1849C> T single nucleotide variant Benign rs3577 GRCh37 Chromosome 20, 39314670: 39314670
39 MAFB NM_005461.4(MAFB): c.*1551G> A single nucleotide variant Uncertain significance rs886056660 GRCh38 Chromosome 20, 40686328: 40686328
40 MAFB NM_005461.4(MAFB): c.*1551G> A single nucleotide variant Uncertain significance rs886056660 GRCh37 Chromosome 20, 39314968: 39314968
41 MAFB NM_005461.4(MAFB): c.*1314A> G single nucleotide variant Likely benign rs533750110 GRCh37 Chromosome 20, 39315205: 39315205
42 MAFB NM_005461.4(MAFB): c.*1314A> G single nucleotide variant Likely benign rs533750110 GRCh38 Chromosome 20, 40686565: 40686565
43 MAFB NM_005461.4(MAFB): c.*1255C> T single nucleotide variant Likely benign rs573637366 GRCh37 Chromosome 20, 39315264: 39315264
44 MAFB NM_005461.4(MAFB): c.*1255C> T single nucleotide variant Likely benign rs573637366 GRCh38 Chromosome 20, 40686624: 40686624
45 MAFB NM_005461.4(MAFB): c.*976G> A single nucleotide variant Uncertain significance rs886056664 GRCh38 Chromosome 20, 40686903: 40686903
46 MAFB NM_005461.4(MAFB): c.*976G> A single nucleotide variant Uncertain significance rs886056664 GRCh37 Chromosome 20, 39315543: 39315543
47 MAFB NM_005461.4(MAFB): c.*929delA deletion Uncertain significance rs886056665 GRCh37 Chromosome 20, 39315590: 39315590
48 MAFB NM_005461.4(MAFB): c.*929delA deletion Uncertain significance rs886056665 GRCh38 Chromosome 20, 40686950: 40686950
49 MAFB NM_005461.4(MAFB): c.*507_*510delTGTC deletion Likely benign rs201579991 GRCh37 Chromosome 20, 39316009: 39316012
50 MAFB NM_005461.4(MAFB): c.*507_*510delTGTC deletion Likely benign rs201579991 GRCh38 Chromosome 20, 40687369: 40687372

Expression for Multicentric Osteolysis Nephropathy

Search GEO for disease gene expression data for Multicentric Osteolysis Nephropathy.

Pathways for Multicentric Osteolysis Nephropathy

GO Terms for Multicentric Osteolysis Nephropathy

Sources for Multicentric Osteolysis Nephropathy

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