METCDS
MCID: MTC018
MIFTS: 48

Metachondromatosis (METCDS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Metachondromatosis

MalaCards integrated aliases for Metachondromatosis:

Name: Metachondromatosis 57 12 73 20 58 72 36 29 13 6 44 15 39 70
Metcds 57 12 20
Mc 72

Characteristics:

Orphanet epidemiological data:

58
metachondromatosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
metachondromatosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111512
OMIM® 57 156250
KEGG 36 H01018
SNOMED-CT 67 205481009
ICD10 via Orphanet 33 Q78.4
UMLS via Orphanet 71 C0410530
Orphanet 58 ORPHA2499
MedGen 41 C0410530
UMLS 70 C0410530

Summaries for Metachondromatosis

GARD : 20 Metachondromatosis (MC) is a rare bone disorder characterized by the presence of both multiple enchondromas and osteochondroma -like lesions. The first signs occur during the first decade of life. Osteochondromas most commonly occur in the hands and feet (predominantly in digits and toes), and enchondromas involve the iliac crests and metaphyses of long bones. The lesions typically spontaneously decrease in size or regress. Nerve paralysis or vascular complications may occur in some cases. The condition has been linked to mutations in the PTPN11 gene in several families and is inherited in an autosomal dominant manner. Treatment may include surgery to remove osteochondromas in severe cases.

MalaCards based summary : Metachondromatosis, also known as metcds, is related to hereditary multiple osteochondromas and osteochondroma. An important gene associated with Metachondromatosis is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways are JAK-STAT signaling pathway and Natural killer cell mediated cytotoxicity. Affiliated tissues include bone and heart, and related phenotypes are avascular necrosis and cranial nerve paralysis

Disease Ontology : 12 An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has material basis in heterozygous mutation in PTPN11 on chromosome 12q24.13.

OMIM® : 57 Metachondromatosis is characterized by exostoses (osteochondromas), commonly of the hands and feet, and enchondromas of long bone metaphyses and iliac crests (summary by Sobreira et al., 2010). (156250) (Updated 05-Apr-2021)

KEGG : 36 Metachondromatosis (MC) is a rare, autosomal dominant condition affecting the growth of bones. It is characterized by exostoses (osteochondromas) and enchondromas. Exostotic lesions occur frequently in the digits and tend to grow toward the joint. MC exostoses may regress or even resolve over time.

UniProtKB/Swiss-Prot : 72 Metachondromatosis: A skeletal disorder with radiologic features of both multiple exostoses and Ollier disease, characterized by the presence of exostoses, commonly of the bones of the hands and feet, and enchondromas of the metaphyses of long bones and iliac crest.

Wikipedia : 73 Metachondromatosis is an autosomal dominant, incompletely penetrant skeletal disorder affecting the... more...

Related Diseases for Metachondromatosis

Diseases related to Metachondromatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 hereditary multiple osteochondromas 30.5 EXT2 EXT1
2 osteochondroma 30.4 PTHLH EXT2 EXT1
3 trichorhinophalangeal syndrome, type ii 30.3 EXT2 EXT1
4 exostosis 30.2 IHH EXT2 EXT1 COL2A1
5 dysplasia epiphysealis hemimelica 30.2 EXT2 EXT1
6 hereditary multiple exostoses 29.9 IHH EXT2 EXT1
7 chondrosarcoma 29.8 PTHLH EXT2 EXT1 COL10A1
8 cartilage disease 29.7 IHH COL2A1 COL10A1
9 metaphyseal dysplasia 29.4 PTHLH PTH1R COL2A1 COL10A1
10 multiple enchondromatosis, maffucci type 29.4 PTHLH PTH1R IHH EXT2 EXT1
11 enchondromatosis, multiple, ollier type 28.9 PTPN11 PTHLH PTH1R IHH EXT2 EXT1
12 noonan syndrome 1 28.7 RPL6 PTPN11 MIR3193 FAM219B CLCN6
13 bone disease 28.2 SP7 PTHLH PTH1R EXT2 EXT1 CTSK
14 exostoses, multiple, type i 11.0
15 ankylosing spondylitis 3 10.3 EXT2 EXT1
16 juxtacortical chondroma 10.3 EXT2 EXT1
17 acrocapitofemoral dysplasia 10.2 PTH1R IHH
18 avascular necrosis 10.2
19 eiken syndrome 10.2 PTHLH PTH1R
20 hypercalcemia, infantile, 1 10.1 PTHLH PTH1R
21 pigmented villonodular synovitis 10.1 PTPN11 PTHLH
22 hypertension and brachydactyly syndrome 10.1 PTHLH PTH1R
23 failure of tooth eruption, primary 10.1 PTHLH PTH1R
24 coxa vara 10.1 COL2A1 COL10A1
25 progressive pseudorheumatoid dysplasia 10.1 COL2A1 COL10A1
26 platyspondylic lethal skeletal dysplasia, torrance type 10.1 COL2A1 COL10A1
27 chondroma 10.1
28 trichorhinophalangeal syndrome 10.1
29 enchondroma 10.1
30 du pan syndrome 10.1 IHH COL10A1
31 spondyloepiphyseal dysplasia congenita 10.1 COL2A1 COL10A1
32 thanatophoric dysplasia, type i 10.1 PTH1R IHH
33 spondyloepimetaphyseal dysplasia, strudwick type 10.1 COL2A1 COL10A1
34 pseudohypoparathyroidism, type ia 10.0 PTHLH PTH1R
35 metaphyseal chondrodysplasia, jansen type 10.0 PTHLH PTH1R IHH
36 chondrodysplasia, blomstrand type 10.0 PTHLH PTH1R IHH
37 acromesomelic dysplasia 10.0 COL2A1 COL10A1
38 multicentric carpotarsal osteolysis syndrome 10.0 PTHLH CTSK
39 brachydactyly, type a1 10.0 PTHLH PTH1R IHH
40 achondrogenesis, type ii 10.0 COL2A1 COL10A1
41 hypochondroplasia 10.0 IHH COL2A1
42 exostoses, multiple, type ii 10.0
43 legg-calve-perthes disease 10.0
44 trichorhinophalangeal syndrome, type i 10.0
45 campomelic dysplasia 10.0 IHH COL2A1 COL10A1
46 chondromyxoid fibroma 9.9 PTHLH PTH1R COL10A1
47 acrodysostosis 9.9 PTHLH PTH1R
48 otofaciocervical syndrome 1 9.8
49 alacrima, achalasia, and mental retardation syndrome 9.8
50 rasopathy 9.8

Graphical network of the top 20 diseases related to Metachondromatosis:



Diseases related to Metachondromatosis

Symptoms & Phenotypes for Metachondromatosis

Human phenotypes related to Metachondromatosis:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 avascular necrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010885
2 cranial nerve paralysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0006824
3 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
4 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
5 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
6 multiple enchondromatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005701
7 exostoses 58 31 hallmark (90%) Very frequent (99-80%) HP:0100777
8 bowing of the long bones 31 HP:0006487
9 abnormal joint morphology 31 HP:0001367
10 multiple digital exostoses 31 HP:0005655

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skel:
multiple enchondromatosis
multiple exostoses, esp. digits

Misc:
exostoses point toward nearby joint
exostoses may resolve spontaneously
no shortening or bowing of long bones

Joints:
no joint deformity, or subluxation

Radiology:
striations in metaphyses of long bones and iliac crests

Clinical features from OMIM®:

156250 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Metachondromatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 CLCN6 COL10A1 COL2A1 CTSK EXT1 IHH
2 craniofacial MP:0005382 9.97 COL10A1 COL2A1 CTSK EXT1 IHH PTH1R
3 limbs/digits/tail MP:0005371 9.91 COL10A1 COL2A1 CTSK EXT1 IHH PTH1R
4 digestive/alimentary MP:0005381 9.87 COL2A1 CTSK EXT1 IHH PTH1R PTHLH
5 nervous system MP:0003631 9.81 CLCN6 COL10A1 COL2A1 CTSK EXT1 IHH
6 respiratory system MP:0005388 9.5 COL2A1 CTSK IHH PTH1R PTHLH PTPN11
7 skeleton MP:0005390 9.32 COL10A1 COL2A1 CTSK EXT1 EXT2 IHH

Drugs & Therapeutics for Metachondromatosis

Search Clinical Trials , NIH Clinical Center for Metachondromatosis

Cochrane evidence based reviews: metachondromatosis

Genetic Tests for Metachondromatosis

Genetic tests related to Metachondromatosis:

# Genetic test Affiliating Genes
1 Metachondromatosis 29 PTPN11

Anatomical Context for Metachondromatosis

MalaCards organs/tissues related to Metachondromatosis:

40
Bone, Heart

Publications for Metachondromatosis

Articles related to Metachondromatosis:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 61 6 57
21533187 2011
2
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. 6 57 61
20577567 2010
3
Metachondromatosis. Report of four cases. 61 57
3873457 1985
4
Metachondromatosis. 61 57
6602353 1983
5
[Metachondromatosis, 3 case reports with hereditary occurrence]. 61 57
6979336 1982
6
The widened spectrum of multiple cartilaginous exostosis (MCE). 57 61
1085923 1975
7
[Metachondromatosis]. 57 61
5313319 1971
8
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. 6
28957739 2018
9
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 6
28650561 2017
10
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. 6
28483241 2017
11
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 6
27521173 2016
12
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 6
26785492 2015
13
[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. 6
25912702 2015
14
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 6
24803665 2014
15
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 6
24628801 2014
16
Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 6
23726368 2013
17
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 6
21407260 2011
18
Lethal presentation of neurofibromatosis and Noonan syndrome. 6
21567923 2011
19
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 6
21340158 2010
20
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 6
20308328 2010
21
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 6
19509418 2009
22
Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 6
18253957 2008
23
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. 6
16399795 2006
24
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 6
15987685 2005
25
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 6
14974085 2004
26
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 6
11704759 2001
27
Targeted Ptpn11 deletion in mice reveals the essential role of SHP2 in osteoblast differentiation and skeletal homeostasis. 61
33500396 2021
28
Arthroscopic resection of femoral neck osteochondroma: Report of a pediatric case of metachondromatosis. 61
31522903 2019
29
A rare association of pathological variant of Alport's syndrome caused by hemizygous 5' splice mutation in intron 10 of COL4A5 gene with metachondromatosis due to heterozygous missense variation in protein tyrosine phosphatase nonreceptor type 11 gene. 61
31464257 2019
30
Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report. 61
29703018 2018
31
Chondrosarcoma in Metachondromatosis: A Rare Case Report. 61
29373887 2017
32
SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes. 61
28983104 2017
33
Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders. 61
27240490 2016
34
Metachondromatosis without Enchondromas: A Case Report and Review of the Literature. 61
29252664 2016
35
Exostoses, enchondromatosis and metachondromatosis; diagnosis and management. 61
26984661 2016
36
[The Biological Function of SHP2 in Human Disease]. 61
27028808 2016
37
SHP2-Deficiency in Chondrocytes Deforms Orofacial Cartilage and Ciliogenesis in Mice. 61
25919282 2015
38
SHP2 sails from physiology to pathology. 61
26341048 2015
39
ERK1 and ERK2 regulate chondrocyte terminal differentiation during endochondral bone formation. 61
25401279 2015
40
Intraosseous atypical chondroid tumor or chondrosarcoma grade 1 in patients with multiple osteochondromas. 61
25568391 2015
41
Regulation of bone and skeletal development by the SHP-2 protein tyrosine phosphatase. 61
25178522 2014
42
Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusions. 61
23929766 2014
43
SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates. 61
24875294 2014
44
Metachondromatosis: more than just multiple osteochondromas. 61
24432109 2013
45
Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling. 61
23863940 2013
46
From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis. 61
25003010 2013
47
Enchondromatosis revisited: new classification with molecular basis. 61
22791316 2012
48
EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis. 61
21892728 2012
49
Enchondromatosis: insights on the different subtypes. 61
20661403 2010
50
Chondrosarcoma in metachondromatosis: a case report. 61
20516327 2010

Variations for Metachondromatosis

ClinVar genetic disease variations for Metachondromatosis:

6 (show top 50) (show all 140)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTPN11 PTPN11, 11-BP DEL, NT514 Deletion Pathogenic 13347 GRCh37:
GRCh38:
2 PTPN11 NM_002834.4(PTPN11):c.412C>T (p.Arg138Ter) SNV Pathogenic 13348 rs267606989 GRCh37: 12:112891078-112891078
GRCh38: 12:112453274-112453274
3 PTPN11 NM_002834.4(PTPN11):c.409_413del (p.Val137fs) Deletion Pathogenic 31547 rs398122857 GRCh37: 12:112891075-112891079
GRCh38: 12:112453271-112453275
4 PTPN11 NM_002834.4(PTPN11):c.458_463delinsAAGAACACAGGGGAGAGCA (p.Thr153fs) Indel Pathogenic 31548 rs398122858 GRCh37: 12:112891124-112891129
GRCh38: 12:112453320-112453325
5 PTPN11 NM_002834.4(PTPN11):c.349_350CT[2] (p.Ser118fs) Microsatellite Pathogenic 31549 rs398122859 GRCh37: 12:112891014-112891015
GRCh38: 12:112453210-112453211
6 PTPN11 NM_002834.4(PTPN11):c.1516C>T (p.Gln506Ter) SNV Pathogenic 31550 rs387907157 GRCh37: 12:112926896-112926896
GRCh38: 12:112489092-112489092
7 PTPN11 NM_002834.4(PTPN11):c.1315del (p.Leu439fs) Deletion Pathogenic 31551 rs398122860 GRCh37: 12:112924368-112924368
GRCh38: 12:112486564-112486564
8 PTPN11 NM_002834.4(PTPN11):c.643-2A>C SNV Pathogenic 31552 rs398122861 GRCh37: 12:112893752-112893752
GRCh38: 12:112455948-112455948
9 PTPN11 NM_002834.4(PTPN11):c.295A>T (p.Lys99Ter) SNV Pathogenic 31553 rs387907158 GRCh37: 12:112888279-112888279
GRCh38: 12:112450475-112450475
10 PTPN11 NM_002834.4(PTPN11):c.1093-1G>T SNV Pathogenic 31554 rs398122862 GRCh37: 12:112919877-112919877
GRCh38: 12:112482073-112482073
11 PTPN11 NG_007459.1:g.45924_60608delinsCA Indel Pathogenic 31555 GRCh37: 12:112897459-112912143
GRCh38: 12:112459655-112474339
12 PTPN11 NM_002834.4(PTPN11):c.661del (p.Arg220_Ile221insTer) Deletion Pathogenic 44611 rs397516807 GRCh37: 12:112893772-112893772
GRCh38: 12:112455968-112455968
13 PTPN11 NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) SNV Pathogenic 40558 rs397507545 GRCh37: 12:112926887-112926887
GRCh38: 12:112489083-112489083
14 PTPN11 NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) SNV Pathogenic 40489 rs397507506 GRCh37: 12:112888158-112888158
GRCh38: 12:112450354-112450354
15 PTPN11 NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) SNV Pathogenic 40487 rs397507505 GRCh37: 12:112888156-112888156
GRCh38: 12:112450352-112450352
16 PTPN11 NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) SNV Pathogenic 13349 rs267606990 GRCh37: 12:112856920-112856920
GRCh38: 12:112419116-112419116
17 PTPN11 NM_002834.5(PTPN11):c.1339del (p.Glu447fs) Deletion Pathogenic 829985 rs1592852978 GRCh37: 12:112924392-112924392
GRCh38: 12:112486588-112486588
18 PTPN11 NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) SNV Pathogenic 13324 rs121918453 GRCh37: 12:112888198-112888198
GRCh38: 12:112450394-112450394
19 PTPN11 NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) SNV Pathogenic 40502 rs397507514 GRCh37: 12:112888212-112888212
GRCh38: 12:112450408-112450408
20 PTPN11 NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) SNV Pathogenic 13325 rs121918454 GRCh37: 12:112888199-112888199
GRCh38: 12:112450395-112450395
21 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV Pathogenic 40513 rs397507520 GRCh37: 12:112891083-112891083
GRCh38: 12:112453279-112453279
22 PTPN11 NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) SNV Pathogenic 13334 rs121918462 GRCh37: 12:112888202-112888202
GRCh38: 12:112450398-112450398
23 PTPN11 NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) SNV Pathogenic 13326 rs28933386 GRCh37: 12:112915523-112915523
GRCh38: 12:112477719-112477719
24 PTPN11 NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) SNV Pathogenic 13329 rs121918460 GRCh37: 12:112888168-112888168
GRCh38: 12:112450364-112450364
25 PTPN11 NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) SNV Pathogenic 40528 rs397507531 GRCh37: 12:112910844-112910844
GRCh38: 12:112473040-112473040
26 PTPN11 NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) SNV Pathogenic 40559 rs397507545 GRCh37: 12:112926887-112926887
GRCh38: 12:112489083-112489083
27 PTPN11 NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) SNV Pathogenic 40562 rs397507547 GRCh37: 12:112926890-112926890
GRCh38: 12:112489086-112489086
28 PTPN11 NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) SNV Pathogenic 13328 rs121918456 GRCh37: 12:112910827-112910827
GRCh38: 12:112473023-112473023
29 PTPN11 NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) SNV Pathogenic 13326 rs28933386 GRCh37: 12:112915523-112915523
GRCh38: 12:112477719-112477719
30 PTPN11 NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) SNV Pathogenic 40522 rs376607329 GRCh37: 12:112910785-112910785
GRCh38: 12:112472981-112472981
31 PTPN11 NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) SNV Pathogenic 13340 rs121918466 GRCh37: 12:112888220-112888220
GRCh38: 12:112450416-112450416
32 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) SNV Pathogenic 13331 rs121918457 GRCh37: 12:112926270-112926270
GRCh38: 12:112488466-112488466
33 PTPN11 NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) SNV Pathogenic 13333 rs121918459 GRCh37: 12:112888172-112888172
GRCh38: 12:112450368-112450368
34 PTPN11 NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) SNV Pathogenic 13327 rs121918455 GRCh37: 12:112915524-112915524
GRCh38: 12:112477720-112477720
35 PTPN11 NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) SNV Pathogenic 40562 rs397507547 GRCh37: 12:112926890-112926890
GRCh38: 12:112489086-112489086
36 PTPN11 NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) SNV Pathogenic 13333 rs121918459 GRCh37: 12:112888172-112888172
GRCh38: 12:112450368-112450368
37 PTPN11 NM_002834.4(PTPN11):c.853T>G (p.Phe285Val) SNV Likely pathogenic 40527 rs397507531 GRCh37: 12:112910844-112910844
GRCh38: 12:112473040-112473040
38 PTPN11 NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) SNV Uncertain significance 44599 rs397516797 GRCh37: 12:112940026-112940026
GRCh38: 12:112502222-112502222
39 PTPN11 NM_002834.5(PTPN11):c.265_269del (p.Lys89fs) Deletion Uncertain significance 981580 GRCh37: 12:112888248-112888252
GRCh38: 12:112450444-112450448
40 PTPN11 NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) SNV Uncertain significance 40540 rs146571700 GRCh37: 12:112915775-112915775
GRCh38: 12:112477971-112477971
41 PTPN11 NM_002834.5(PTPN11):c.*474A>G SNV Uncertain significance 882568 GRCh37: 12:112944070-112944070
GRCh38: 12:112506266-112506266
42 PTPN11 NM_002834.5(PTPN11):c.*673G>A SNV Uncertain significance 882569 GRCh37: 12:112944269-112944269
GRCh38: 12:112506465-112506465
43 PTPN11 NM_002834.5(PTPN11):c.*720C>T SNV Uncertain significance 880986 GRCh37: 12:112944316-112944316
GRCh38: 12:112506512-112506512
44 PTPN11 NM_002834.5(PTPN11):c.*1419G>A SNV Uncertain significance 881046 GRCh37: 12:112945015-112945015
GRCh38: 12:112507211-112507211
45 PTPN11 NM_002834.5(PTPN11):c.*1830G>A SNV Uncertain significance 881085 GRCh37: 12:112945426-112945426
GRCh38: 12:112507622-112507622
46 PTPN11 NM_002834.5(PTPN11):c.*2822A>G SNV Uncertain significance 881125 GRCh37: 12:112946418-112946418
GRCh38: 12:112508614-112508614
47 PTPN11 NM_002834.5(PTPN11):c.*3971A>G SNV Uncertain significance 881174 GRCh37: 12:112947567-112947567
GRCh38: 12:112509763-112509763
48 PTPN11 NM_002834.5(PTPN11):c.*1520C>T SNV Uncertain significance 881504 GRCh37: 12:112945116-112945116
GRCh38: 12:112507312-112507312
49 PTPN11 NM_002834.5(PTPN11):c.*802G>A SNV Uncertain significance 882617 GRCh37: 12:112944398-112944398
GRCh38: 12:112506594-112506594
50 PTPN11 NM_002834.5(PTPN11):c.*1616C>T SNV Uncertain significance 882664 GRCh37: 12:112945212-112945212
GRCh38: 12:112507408-112507408

Expression for Metachondromatosis

Search GEO for disease gene expression data for Metachondromatosis.

Pathways for Metachondromatosis

Pathways related to Metachondromatosis according to KEGG:

36
# Name Kegg Source Accession
1 JAK-STAT signaling pathway hsa04630
2 Natural killer cell mediated cytotoxicity hsa04650
3 Leukocyte transendothelial migration hsa04670
4 Neurotrophin signaling pathway hsa04722
5 Adipocytokine signaling pathway hsa04920

Pathways related to Metachondromatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.83 PTHLH PTH1R IHH COL2A1 COL10A1
2 10.72 PTHLH PTH1R IHH
3
Show member pathways
10.67 PTHLH IHH

GO Terms for Metachondromatosis

Biological processes related to Metachondromatosis according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cellular response to BMP stimulus GO:0071773 9.63 EXT1 COL2A1
2 glycosaminoglycan biosynthetic process GO:0006024 9.63 EXT2 EXT1
3 cell maturation GO:0048469 9.62 PTH1R IHH
4 cellular response to fibroblast growth factor stimulus GO:0044344 9.62 EXT2 EXT1
5 endochondral ossification GO:0001958 9.61 EXT1 COL2A1
6 vasodilation GO:0042311 9.61 EXT2 EXT1
7 negative regulation of chondrocyte differentiation GO:0032331 9.6 PTPN11 PTHLH
8 sulfation GO:0051923 9.59 EXT2 EXT1
9 osteoblast development GO:0002076 9.58 PTHLH PTH1R
10 sodium ion homeostasis GO:0055078 9.58 EXT2 EXT1
11 heart contraction GO:0060047 9.57 EXT2 EXT1
12 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.56 EXT2 EXT1
13 hematopoietic stem cell differentiation GO:0060218 9.55 SP7 EXT1
14 chondrocyte proliferation GO:0035988 9.54 IHH EXT1
15 chondrocyte differentiation GO:0002062 9.54 PTH1R EXT1 COL2A1
16 heparin biosynthetic process GO:0030210 9.52 EXT2 EXT1
17 multicellular organismal water homeostasis GO:0050891 9.51 EXT2 EXT1
18 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.49 EXT2 EXT1
19 proteoglycan metabolic process GO:0006029 9.48 IHH COL2A1
20 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.46 EXT1 COL2A1
21 embryonic skeletal joint development GO:0072498 9.43 IHH EXT1
22 endochondral bone morphogenesis GO:0060350 9.4 EXT2 EXT1
23 ossification GO:0001503 9.35 PTH1R IHH EXT2 EXT1 COL2A1
24 bone resorption GO:0045453 9.33 PTH1R IHH CTSK
25 fluid transport GO:0042044 9.32 EXT2 EXT1
26 cellular polysaccharide biosynthetic process GO:0033692 9.26 EXT2 EXT1
27 skeletal system development GO:0001501 9.1 PTHLH PTH1R IHH EXT1 COL2A1 COL10A1

Molecular functions related to Metachondromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucuronosyltransferase activity GO:0015020 9.37 EXT2 EXT1
2 proteoglycan binding GO:0043394 9.32 CTSK COL2A1
3 peptide hormone receptor binding GO:0051428 9.26 PTPN11 PTHLH
4 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.16 EXT2 EXT1
5 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 8.96 EXT2 EXT1
6 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 8.62 EXT2 EXT1

Sources for Metachondromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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