Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: MLT092
MIFTS: 48

Multicentric Carpotarsal Osteolysis Syndrome

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Multicentric Carpotarsal Osteolysis Syndrome

About this section

MalaCards integrated aliases for Multicentric Carpotarsal Osteolysis Syndrome:

Name: Multicentric Carpotarsal Osteolysis Syndrome 57 53 75 37 13
Osteolysis, Hereditary, of Carpal Bones with or Without Nephropathy 57 73
Multicentric Carpo-Tarsal Osteolysis with or Without Nephropathy 53 59
Idiopathic Multicentric Osteolysis with or Without Nephropathy 53 59
Mcto 57 75
Hereditary Osteolysis of Carpal Bones with or Without Nephropathy 75
Syndrome, Osteolysis, Carpotarsal, Multicentric 40
Multicentric Osteolysis, Autosomal Dominant 57
Autosomal Dominant Multicentric Osteolysis 75
Lytic Lesion 73
Osteolysis 44

Characteristics:

Orphanet epidemiological data:

59
multicentric carpo-tarsal osteolysis with or without nephropathy
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy-early childhood


HPO:

32
multicentric carpotarsal osteolysis syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 59  
Rare renal diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Multicentric Carpotarsal Osteolysis Syndrome

About this section
OMIM : 57 Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988). See also Torg-Winchester syndrome (259600), an autosomal recessive multicentric osteolysis syndrome. (166300)

MalaCards based summary : Multicentric Carpotarsal Osteolysis Syndrome, also known as osteolysis, hereditary, of carpal bones with or without nephropathy, is related to familial expansile osteolysis and multicentric osteolysis, nodulosis, and arthropathy, and has symptoms including wrist pain and ankle pain. An important gene associated with Multicentric Carpotarsal Osteolysis Syndrome is MAFB (MAF BZIP Transcription Factor B), and among its related pathways/superpathways are Development Endothelin-1/EDNRA signaling and RANK Signaling in Osteoclasts. Affiliated tissues include bone and kidney, and related phenotypes are proteinuria and nephropathy

NIH Rare Diseases : 53 Multicentric carpotarsal osteolysis syndrome is a very rare condition characterized by progressive loss of some of the bones of the hand and feet, usually the carpal (bones of the wrist) and tarsal bones (bones of the ankle), as well as chronic kidney (renal) failure in many cases. The bone problems lead to deformity and disability. Some patients also have intellectual disability and facial abnormalities. It is caused by mutations in the MAFB gene.Autosomal dominant inheritance has been described in many families but most cases are sporadic. Treatment is with long-term immunosuppressive therapy. 

UniProtKB/Swiss-Prot : 75 Multicentric carpotarsal osteolysis syndrome: A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients.

Sources

Related Diseases for Multicentric Carpotarsal Osteolysis Syndrome

About this section

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 familial expansile osteolysis 33.4 TNFRSF11A TNFRSF11B TNFSF11
2 multicentric osteolysis, nodulosis, and arthropathy 12.6
3 osteolysis syndrome, recessive 12.0
4 idiopathic phalangeal acro-osteolysis 11.9
5 multicentric osteolysis nephropathy 11.5
6 breast leiomyosarcoma 10.3 TNFRSF11A TNFSF11
7 aneurysmal bone cysts 10.3 TNFRSF11A TNFSF11
8 multicentric reticulohistiocytosis 10.2 TNFRSF11B TNFSF11
9 kummell's disease 10.2 TNFRSF11B TNFSF11
10 villonodular synovitis 10.2 ACP5 TNFSF11
11 periodontitis, chronic 10.2 TNFRSF11B TNFSF11
12 chronic apical periodontitis 10.2 TNFRSF11B TNFSF11
13 pigmented villonodular synovitis 10.1 ACP5 TNFSF11
14 tooth ankylosis 10.1 PTHLH TNFSF11
15 jaw cancer 10.0 PTHLH TNFSF11
16 teeth hard tissue disease 10.0 ACP5 TNFSF11
17 chondroblastoma 10.0 PTHLH TNFSF11
18 bone cancer 10.0 TNFRSF11A TNFSF11
19 secondary hyperparathyroidism of renal origin 10.0 ACP5 TNFRSF11B
20 keratocystic odontogenic tumor 10.0 PTHLH TNFSF11
21 aortic valve disease 2 9.8 TNFRSF11B TNFSF11
22 polyarticular onset juvenile idiopathic arthritis 9.8 TNFRSF11A TNFRSF11B TNFSF11
23 enchondromatosis, multiple, ollier type 9.8 ACP5 PTHLH
24 hemophilic arthropathy 9.8 TNFRSF11A TNFRSF11B TNFSF11
25 paget disease of bone 5, juvenile-onset 9.8 TNFRSF11A TNFRSF11B TNFSF11
26 myeloma, multiple 9.7 MAFB TNFRSF11B TNFSF11
27 periodontal disease 9.7 TNFRSF11A TNFRSF11B TNFSF11
28 synovitis 9.7 TNFRSF11B TNFSF11
29 glucocorticoid-induced osteoporosis 9.7 ACP5 TNFRSF11B TNFSF11
30 osteonecrosis 9.7 ACP5 TNFRSF11B TNFSF11
31 bone inflammation disease 9.7 ACP5 TNFRSF11B TNFSF11
32 bone giant cell tumor 9.7 ACP5 CTSK
33 arthropathy 9.5 TNFRSF11B TNFSF11
34 hyperparathyroidism 9.4 ACP5 PTHLH TNFRSF11B
35 osteopetrosis 9.4 CTSK TNFRSF11A TNFSF11
36 skeletal dysplasias 9.4 CTSK PTHLH
37 endosteal hyperostosis, autosomal dominant 9.3 CTSK TNFRSF11B TNFSF11
38 osteomyelitis 9.3 ACP5 CTSK TNFSF11
39 periodontitis 9.3 CTSK TNFRSF11B TNFSF11
40 hypercementosis 9.3 ACP5 CTSK TNFRSF11A
41 periapical periodontitis 9.2 ACP5 TNFRSF11A TNFRSF11B TNFSF11
42 ischemic bone disease 9.2 ACP5 TNFRSF11A TNFRSF11B TNFSF11
43 paget's disease of bone 9.2 ACP5 TNFRSF11A TNFRSF11B TNFSF11
44 root resorption 8.8 CTSK TNFRSF11A TNFRSF11B TNFSF11
45 giant cell tumor 8.8 CTSK TNFRSF11A TNFRSF11B TNFSF11
46 tooth resorption 8.2 ACP5 CTSK TNFRSF11A TNFRSF11B TNFSF11
47 bone resorption disease 8.2 ACP5 CTSK TNFRSF11A TNFRSF11B TNFSF11
48 bone remodeling disease 8.2 ACP5 CTSK TNFRSF11A TNFRSF11B TNFSF11
49 rheumatoid arthritis 8.2 ACP5 CTSK TNFRSF11A TNFRSF11B TNFSF11
50 bone disease 7.5 ACP5 CTSK PTHLH TNFRSF11A TNFRSF11B TNFSF11

Graphical network of the top 20 diseases related to Multicentric Carpotarsal Osteolysis Syndrome:



Diseases related to Multicentric Carpotarsal Osteolysis Syndrome
Sources

Symptoms & Phenotypes for Multicentric Carpotarsal Osteolysis Syndrome

About this section

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
hypertension
nephropathy
renal failure

Laboratory Abnormalities:
proteinuria

Skeletal Feet:
pes cavus
ankle swelling
ankle arthralgia
tarsal bone osteolysis
metatarsal osteolysis

Muscle Soft Tissue:
wrist swelling
ankle swelling

Skeletal:
osteopenia

Head And Neck Face:
micrognathia
maxillary hypoplasia

Skeletal Hands:
wrist swelling
metacarpal osteolysis
ulnar deviation of hands
wrist arthralgia
carpal bone osteolysis

Head And Neck Eyes:
exophthalmos


Clinical features from OMIM:

166300

Human phenotypes related to Multicentric Carpotarsal Osteolysis Syndrome:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
2 nephropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000112
3 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
4 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
5 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
6 telecanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000506
7 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
8 wrist swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001225
9 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
10 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
11 carpal osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001495
12 metacarpal osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001504
13 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
14 downturned corners of mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0002714
15 slender long bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003100
16 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
17 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
18 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
19 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
20 osteolysis 59 Very frequent (99-80%)
21 abnormality of the wrist 59 Very frequent (99-80%)
22 renal insufficiency 32 HP:0000083
23 hypoplasia of the maxilla 32 HP:0000327
24 hypertension 32 HP:0000822
25 osteopenia 32 HP:0000938
26 ulnar deviation of the hand or of fingers of the hand 32 HP:0001193
27 metatarsal osteolysis 32 HP:0001473
28 pes cavus 32 HP:0001761
29 ankle swelling 32 HP:0001785
30 arthralgia 32 HP:0002829
31 osteolysis involving tarsal bones 32 HP:0006234
32 ulnar deviation of the hand 32 HP:0009487

UMLS symptoms related to Multicentric Carpotarsal Osteolysis Syndrome:


wrist pain, ankle pain

MGI Mouse Phenotypes related to Multicentric Carpotarsal Osteolysis Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.85 MAFB PTHLH TNFRSF11A TNFRSF11B TNFSF11 CTSK
2 immune system MP:0005387 9.73 CTSK MAFB PTHLH TNFRSF11A TNFRSF11B TNFSF11
3 endocrine/exocrine gland MP:0005379 9.72 TNFSF11 CTSK MAFB PTHLH TNFRSF11A
4 limbs/digits/tail MP:0005371 9.55 PTHLH TNFRSF11A TNFRSF11B TNFSF11 CTSK
5 respiratory system MP:0005388 9.35 CTSK MAFB PTHLH TNFRSF11A TNFSF11
6 skeleton MP:0005390 9.1 MAFB PTHLH TNFRSF11A TNFRSF11B TNFSF11 CTSK
Sources

Drugs & Therapeutics for Multicentric Carpotarsal Osteolysis Syndrome

About this section

Search Clinical Trials , NIH Clinical Center for Multicentric Carpotarsal Osteolysis Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: osteolysis

Sources

Genetic Tests for Multicentric Carpotarsal Osteolysis Syndrome

About this section
Sources

Anatomical Context for Multicentric Carpotarsal Osteolysis Syndrome

About this section

MalaCards organs/tissues related to Multicentric Carpotarsal Osteolysis Syndrome:

41
Bone, Kidney
Sources

Publications for Multicentric Carpotarsal Osteolysis Syndrome

About this section

Articles related to Multicentric Carpotarsal Osteolysis Syndrome:

# Title Authors Year
1
Multicentric carpotarsal osteolysis syndrome: long-term follow-up of three patients. ( 29396697 )
2018
2
Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans. ( 29675035 )
2018
3
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis. ( 24989131 )
2014
4
An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. ( 23670161 )
2013
Sources

Variations for Multicentric Carpotarsal Osteolysis Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Multicentric Carpotarsal Osteolysis Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 MAFB p.Ser54Leu VAR_067979 rs730880014
2 MAFB p.Pro59Leu VAR_067980
3 MAFB p.Thr62Pro VAR_067981 rs387907004
4 MAFB p.Pro63Arg VAR_067982
5 MAFB p.Ser66Cys VAR_067983
6 MAFB p.Ser69Leu VAR_067984
7 MAFB p.Ser70Ala VAR_067985 rs387907005
8 MAFB p.Ser70Leu VAR_067986 rs387907006
9 MAFB p.Pro71Leu VAR_067987 rs387907008
10 MAFB p.Pro71Ser VAR_067988 rs387907007

ClinVar genetic disease variations for Multicentric Carpotarsal Osteolysis Syndrome:

6
(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
Sources

Expression for Multicentric Carpotarsal Osteolysis Syndrome

About this section
Search GEO for disease gene expression data for Multicentric Carpotarsal Osteolysis Syndrome.
Sources

Pathways for Multicentric Carpotarsal Osteolysis Syndrome

About this section

Pathways related to Multicentric Carpotarsal Osteolysis Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Development Endothelin-1/EDNRA signaling 22
Show member pathways
 12.24 TNFRSF11A TNFRSF11B TNFSF11
2
RANK Signaling in Osteoclasts 64
Show member pathways
 11.95 ACP5 CTSK TNFRSF11A TNFRSF11B TNFSF11
3
Parathyroid hormone synthesis, secretion and action 37
11.57 MAFB PTHLH TNFSF11
4
Rheumatoid arthritis 37
11.51 ACP5 CTSK TNFRSF11A TNFSF11
5
NF-kappa B signaling pathway 37
11.49 TNFRSF11A TNFSF11
6
Osteoclast differentiation 37
11.46 ACP5 CTSK TNFRSF11A TNFRSF11B TNFSF11
7
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 22
Show member pathways
 11.36 TNFRSF11A TNFSF11
8
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.15 TNFRSF11A TNFRSF11B TNFSF11
9
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.05 PTHLH TNFSF11
10
TNFs bind their physiological receptors 66
10.91 TNFRSF11B TNFSF11
11
Osteoblast Signaling 1
10.55 TNFRSF11B TNFSF11
12
Osteoclast Signaling 1
10.23 ACP5 CTSK TNFRSF11A TNFRSF11B TNFSF11
Sources

GO Terms for Multicentric Carpotarsal Osteolysis Syndrome

About this section

Biological processes related to Multicentric Carpotarsal Osteolysis Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.71 TNFRSF11A TNFRSF11B TNFSF11
2 regulation of signaling receptor activity GO:0010469 9.69 PTHLH TNFRSF11B TNFSF11
3 response to lipopolysaccharide GO:0032496 9.61 ACP5 TNFRSF11A TNFRSF11B
4 ossification GO:0001503 9.55 TNFRSF11A TNFSF11
5 apoptotic signaling pathway GO:0097190 9.52 TNFRSF11A TNFRSF11B
6 tumor necrosis factor-mediated signaling pathway GO:0033209 9.5 TNFRSF11A TNFRSF11B TNFSF11
7 response to cytokine GO:0034097 9.49 ACP5 TNFRSF11A
8 monocyte chemotaxis GO:0002548 9.48 TNFRSF11A TNFSF11
9 osteoclast differentiation GO:0030316 9.46 TNFRSF11A TNFSF11
10 positive regulation of bone resorption GO:0045780 9.4 TNFRSF11A TNFSF11
11 mammary gland alveolus development GO:0060749 9.37 TNFRSF11A TNFSF11
12 TNFSF11-mediated signaling pathway GO:0071847 9.26 TNFRSF11A TNFSF11
13 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.16 TNFRSF11A TNFSF11
14 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 8.96 TNFRSF11A TNFSF11
15 bone resorption GO:0045453 8.8 ACP5 CTSK TNFSF11

Molecular functions related to Multicentric Carpotarsal Osteolysis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-activated receptor activity GO:0005031 8.62 TNFRSF11A TNFRSF11B
Sources

Sources for Multicentric Carpotarsal Osteolysis Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....