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MCTO
MCID: MLT092
MIFTS: 54

Multicentric Carpotarsal Osteolysis Syndrome (MCTO)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Multicentric Carpotarsal Osteolysis Syndrome

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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 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 TRAF Pathway. Affiliated tissues include bone, kidney and thyroid, and related phenotypes are abnormality of epiphysis morphology and gait disturbance

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.

Wikipedia : 76 Multicentric carpotarsal osteolysis syndrome is a rare autosomal dominant condition. This condition is... more...

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Related Diseases for Multicentric Carpotarsal Osteolysis Syndrome

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

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 familial expansile osteolysis 33.8 TNFSF11 TNFRSF11B TNFRSF11A
2 arthropathy 30.6 TNFRSF11B TNFSF11
3 bone giant cell tumor 30.1 TNFSF11 CTSK
4 myeloma, multiple 30.1 TNFSF11 TNFRSF11B MAFB
5 osteopetrosis 29.8 TNFSF11 TNFRSF11A CTSK
6 synovitis 29.7 TNFRSF11B TNFSF11
7 bone cancer 29.7 TNFRSF11A TNFSF11
8 bone resorption disease 29.6 TNFSF11 TNFRSF11B TNFRSF11A CTSK BGLAP
9 osteonecrosis 29.5 TNFSF11 TNFRSF11B BGLAP
10 giant cell tumor 29.4 TNFSF11 TNFRSF11B TNFRSF11A CTSK BGLAP
11 periodontitis 29.2 TNFSF11 TNFRSF11B CTSK BGLAP
12 root resorption 29.1 TNFSF11 TNFRSF11B TNFRSF11A CTSK
13 prostate cancer 29.1 BGLAP PTHLH TNFRSF11B TNFSF11
14 bone disease 29.1 TNFSF11 TNFRSF11B TNFRSF11A PTHLH CTSK BGLAP
15 osteoporosis 29.1 TNFSF11 TNFRSF11B TNFRSF11A PTHLH CTSK BGLAP
16 multicentric osteolysis, nodulosis, and arthropathy 12.7
17 multicentric osteolysis-nodulosis-arthropathy spectrum 12.1
18 osteolysis syndrome, recessive 12.1
19 idiopathic phalangeal acro-osteolysis 12.1
20 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 12.1
21 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals 12.0
22 gorham's disease 12.0
23 osebold skeletal dysplasia/osteolysis syndrome 12.0
24 hajdu-cheney syndrome 12.0
25 carpo tarsal osteolysis recessive 12.0
26 nestor-guillermo progeria syndrome 11.8
27 cystic angiomatosis of bone, diffuse 11.7
28 winchester syndrome 11.7
29 petit-fryns syndrome 11.7
30 multicentric osteolysis nephropathy 11.6
31 phalangeal microgeodic syndrome 11.5
32 mandibuloacral dysplasia with type a lipodystrophy 11.5
33 acroosteolysis 11.4
34 acroosteolysis dominant type 11.4
35 premature aging syndrome, penttinen type 11.3
36 penttinen-aula syndrome 11.3
37 singleton-merten syndrome 1 11.1
38 lateral meningocele syndrome 11.0
39 hutchinson-gilford progeria syndrome 11.0
40 dermatoosteolysis, kirghizian type 11.0
41 frank-ter haar syndrome 11.0
42 singleton-merten syndrome 2 11.0
43 van bogaert-hozay syndrome 11.0
44 breast cancer 10.3
45 arthritis 10.2
46 kidney disease 10.1
47 kummell's disease 10.1 TNFSF11 TNFRSF11B
48 multicentric reticulohistiocytosis 10.1 TNFSF11 TNFRSF11B
49 chronic apical periodontitis 10.1 TNFSF11 TNFRSF11B
50 periodontitis, chronic 10.1 TNFSF11 TNFRSF11B

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



Diseases related to Multicentric Carpotarsal Osteolysis Syndrome
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Symptoms & Phenotypes for Multicentric Carpotarsal Osteolysis Syndrome

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

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 CTSK MAFB PTHLH TNFRSF11A TNFRSF11B TNFSF11
2 immune system MP:0005387 9.73 CTSK MAFB PTHLH TNFRSF11A TNFRSF11B TNFSF11
3 endocrine/exocrine gland MP:0005379 9.72 CTSK MAFB PTHLH TNFRSF11A TNFSF11
4 limbs/digits/tail MP:0005371 9.55 CTSK PTHLH TNFRSF11A TNFRSF11B TNFSF11
5 respiratory system MP:0005388 9.35 CTSK MAFB PTHLH TNFRSF11A TNFSF11
6 skeleton MP:0005390 9.1 CTSK MAFB PTHLH TNFRSF11A TNFRSF11B TNFSF11
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Drugs & Therapeutics for Multicentric Carpotarsal Osteolysis Syndrome

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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

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Genetic Tests for Multicentric Carpotarsal Osteolysis Syndrome

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Anatomical Context for Multicentric Carpotarsal Osteolysis Syndrome

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MalaCards organs/tissues related to Multicentric Carpotarsal Osteolysis Syndrome:

41
Bone, Kidney, Thyroid, Spinal Cord, Prostate, T Cells, B Cells
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Publications for Multicentric Carpotarsal Osteolysis Syndrome

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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
Three cases of multicentric carpotarsal osteolysis syndrome: a case series. ( 30208859 )
2018
4
The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian. ( 30305815 )
2018
5
A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome. ( 30430035 )
2018
6
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis. ( 24989131 )
2014
7
An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome. ( 23670161 )
2013
Sources

Variations for Multicentric Carpotarsal Osteolysis Syndrome

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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.-310G> A single nucleotide variant Likely benign rs567415398 GRCh38 Chromosome 20, 40689160: 40689160
14 MAFB NM_005461.4(MAFB): c.-310G> A single nucleotide variant Likely benign rs567415398 GRCh37 Chromosome 20, 39317800: 39317800
15 MAFB NM_005461.4(MAFB): c.*1849C> T single nucleotide variant Benign rs3577 GRCh38 Chromosome 20, 40686030: 40686030
16 MAFB NM_005461.4(MAFB): c.*1849C> T single nucleotide variant Benign rs3577 GRCh37 Chromosome 20, 39314670: 39314670
17 MAFB NM_005461.4(MAFB): c.*1551G> A single nucleotide variant Uncertain significance rs886056660 GRCh38 Chromosome 20, 40686328: 40686328
18 MAFB NM_005461.4(MAFB): c.*1551G> A single nucleotide variant Uncertain significance rs886056660 GRCh37 Chromosome 20, 39314968: 39314968
19 MAFB NM_005461.4(MAFB): c.*1314A> G single nucleotide variant Likely benign rs533750110 GRCh37 Chromosome 20, 39315205: 39315205
20 MAFB NM_005461.4(MAFB): c.*1314A> G single nucleotide variant Likely benign rs533750110 GRCh38 Chromosome 20, 40686565: 40686565
21 MAFB NM_005461.4(MAFB): c.*1255C> T single nucleotide variant Likely benign rs573637366 GRCh37 Chromosome 20, 39315264: 39315264
22 MAFB NM_005461.4(MAFB): c.*1255C> T single nucleotide variant Likely benign rs573637366 GRCh38 Chromosome 20, 40686624: 40686624
23 MAFB NM_005461.4(MAFB): c.*976G> A single nucleotide variant Uncertain significance rs886056664 GRCh37 Chromosome 20, 39315543: 39315543
24 MAFB NM_005461.4(MAFB): c.*976G> A single nucleotide variant Uncertain significance rs886056664 GRCh38 Chromosome 20, 40686903: 40686903
25 MAFB NM_005461.4(MAFB): c.*929delA deletion Uncertain significance rs886056665 GRCh37 Chromosome 20, 39315590: 39315590
26 MAFB NM_005461.4(MAFB): c.*929delA deletion Uncertain significance rs886056665 GRCh38 Chromosome 20, 40686950: 40686950
27 MAFB NM_005461.4(MAFB): c.*507_*510delTGTC deletion Likely benign rs201579991 GRCh37 Chromosome 20, 39316009: 39316012
28 MAFB NM_005461.4(MAFB): c.*507_*510delTGTC deletion Likely benign rs201579991 GRCh38 Chromosome 20, 40687369: 40687372
29 MAFB NM_005461.4(MAFB): c.*377G> C single nucleotide variant Uncertain significance rs886056669 GRCh37 Chromosome 20, 39316142: 39316142
30 MAFB NM_005461.4(MAFB): c.*377G> C single nucleotide variant Uncertain significance rs886056669 GRCh38 Chromosome 20, 40687502: 40687502
31 MAFB NM_005461.4(MAFB): c.*309A> T single nucleotide variant Uncertain significance rs886056670 GRCh37 Chromosome 20, 39316210: 39316210
32 MAFB NM_005461.4(MAFB): c.*309A> T single nucleotide variant Uncertain significance rs886056670 GRCh38 Chromosome 20, 40687570: 40687570
33 MAFB NM_005461.4(MAFB): c.*155C> T single nucleotide variant Likely benign rs533850442 GRCh37 Chromosome 20, 39316364: 39316364
34 MAFB NM_005461.4(MAFB): c.*155C> T single nucleotide variant Likely benign rs533850442 GRCh38 Chromosome 20, 40687724: 40687724
35 MAFB NM_005461.4(MAFB): c.*68G> A single nucleotide variant Likely benign rs190300765 GRCh37 Chromosome 20, 39316451: 39316451
36 MAFB NM_005461.4(MAFB): c.*68G> A single nucleotide variant Likely benign rs190300765 GRCh38 Chromosome 20, 40687811: 40687811
37 MAFB NM_005461.4(MAFB): c.*64C> T single nucleotide variant Uncertain significance rs886056673 GRCh37 Chromosome 20, 39316455: 39316455
38 MAFB NM_005461.4(MAFB): c.*64C> T single nucleotide variant Uncertain significance rs886056673 GRCh38 Chromosome 20, 40687815: 40687815
39 MAFB NM_005461.4(MAFB): c.745C> A (p.Arg249=) single nucleotide variant Likely benign rs561320614 GRCh37 Chromosome 20, 39316746: 39316746
40 MAFB NM_005461.4(MAFB): c.745C> A (p.Arg249=) single nucleotide variant Likely benign rs561320614 GRCh38 Chromosome 20, 40688106: 40688106
41 MAFB NM_005461.4(MAFB): c.525C> G (p.Ser175Arg) single nucleotide variant Uncertain significance rs886056674 GRCh38 Chromosome 20, 40688326: 40688326
42 MAFB NM_005461.4(MAFB): c.525C> G (p.Ser175Arg) single nucleotide variant Uncertain significance rs886056674 GRCh37 Chromosome 20, 39316966: 39316966
43 MAFB NM_005461.4(MAFB): c.189G> A (p.Pro63=) single nucleotide variant Uncertain significance rs201590858 GRCh38 Chromosome 20, 40688662: 40688662
44 MAFB NM_005461.4(MAFB): c.189G> A (p.Pro63=) single nucleotide variant Uncertain significance rs201590858 GRCh37 Chromosome 20, 39317302: 39317302
45 MAFB NM_005461.4(MAFB): c.-138G> T single nucleotide variant Uncertain significance rs755784104 GRCh37 Chromosome 20, 39317628: 39317628
46 MAFB NM_005461.4(MAFB): c.-138G> T single nucleotide variant Uncertain significance rs755784104 GRCh38 Chromosome 20, 40688988: 40688988
47 MAFB NM_005461.4(MAFB): c.*152G> C single nucleotide variant Likely benign rs553723079 GRCh38 Chromosome 20, 40687727: 40687727
48 MAFB NM_005461.4(MAFB): c.*152G> C single nucleotide variant Likely benign rs553723079 GRCh37 Chromosome 20, 39316367: 39316367
49 MAFB NM_005461.4(MAFB): c.*209A> C single nucleotide variant Uncertain significance rs886056672 GRCh38 Chromosome 20, 40687670: 40687670
50 MAFB NM_005461.4(MAFB): c.*209A> C single nucleotide variant Uncertain significance rs886056672 GRCh37 Chromosome 20, 39316310: 39316310
Sources

Expression for Multicentric Carpotarsal Osteolysis Syndrome

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Search GEO for disease gene expression data for Multicentric Carpotarsal Osteolysis Syndrome.
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Pathways for Multicentric Carpotarsal Osteolysis Syndrome

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Development Endothelin-1/EDNRA signaling 22
Show member pathways
 12.24 TNFRSF11A TNFRSF11B TNFSF11
2
TRAF Pathway 64
Show member pathways
 12.2 TNFRSF11A TNFRSF11B TNFSF11
3
RANK Signaling in Osteoclasts 64
Show member pathways
 12.1 CTSK TNFRSF11A TNFRSF11B TNFSF11
4
Osteoclast differentiation 37
11.73 CTSK TNFRSF11A TNFRSF11B TNFSF11
5
Parathyroid hormone synthesis, secretion and action 37
11.58 BGLAP MAFB PTHLH TNFSF11
6
Rheumatoid arthritis 37
11.56 CTSK TNFRSF11A TNFSF11
7
NF-kappa B signaling pathway 37
11.5 TNFRSF11A TNFSF11
8
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 22
Show member pathways
 11.37 TNFRSF11A TNFSF11
9
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.14 BGLAP PTHLH TNFSF11
10
TNFs bind their physiological receptors 66
10.93 TNFRSF11B TNFSF11
11
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
10.91 BGLAP TNFRSF11A TNFRSF11B TNFSF11
12
Osteoblast Signaling 1
10.48 BGLAP TNFRSF11B TNFSF11
13
Osteoclast Signaling 1
10.13 CTSK TNFRSF11A TNFRSF11B TNFSF11
Sources

GO Terms for Multicentric Carpotarsal Osteolysis Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.35 BGLAP CTSK PTHLH TNFRSF11B TNFSF11
2 extracellular space GO:0005615 9.02 BGLAP CTSK PTHLH TNFRSF11B TNFSF11

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.75 PTHLH TNFRSF11B TNFSF11
2 skeletal system development GO:0001501 9.58 BGLAP PTHLH TNFRSF11B
3 response to estrogen GO:0043627 9.57 BGLAP TNFRSF11B
4 bone development GO:0060348 9.56 BGLAP TNFSF11
5 monocyte chemotaxis GO:0002548 9.55 TNFRSF11A TNFSF11
6 bone mineralization GO:0030282 9.54 BGLAP PTHLH
7 osteoclast differentiation GO:0030316 9.52 TNFRSF11A TNFSF11
8 bone resorption GO:0045453 9.51 CTSK TNFSF11
9 ossification GO:0001503 9.5 BGLAP TNFRSF11A TNFSF11
10 osteoblast development GO:0002076 9.49 BGLAP PTHLH
11 positive regulation of bone resorption GO:0045780 9.48 TNFRSF11A TNFSF11
12 mammary gland alveolus development GO:0060749 9.46 TNFRSF11A TNFSF11
13 regulation of osteoclast differentiation GO:0045670 9.43 BGLAP TNFSF11
14 tumor necrosis factor-mediated signaling pathway GO:0033209 9.43 TNFRSF11A TNFRSF11B TNFSF11
15 response to inorganic substance GO:0010035 9.37 BGLAP TNFRSF11B
16 TNFSF11-mediated signaling pathway GO:0071847 9.16 TNFRSF11A TNFSF11
17 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 8.96 TNFRSF11A TNFSF11
18 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 8.62 TNFRSF11A TNFSF11
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
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