METCDS
MCID: MTC018
MIFTS: 52

Metachondromatosis (METCDS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Metachondromatosis

MalaCards integrated aliases for Metachondromatosis:

Name: Metachondromatosis 57 11 19 58 75 73 28 12 5 43 14 38 71
Metcds 57 11 19
Mc 73

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0111512
OMIM® 57 156250
SNOMED-CT 68 205481009
ICD10 via Orphanet 32 Q78.4
UMLS via Orphanet 72 C0410530
Orphanet 58 ORPHA2499
MedGen 40 C0410530
UMLS 71 C0410530

Summaries for Metachondromatosis

GARD: 19 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 genetic changes in the PTPN11 gene in several families and is inherited in an autosomal dominant manner.

MalaCards based summary: Metachondromatosis, also known as metcds, is related to exostoses, multiple, type i and hereditary multiple osteochondromas. An important gene associated with Metachondromatosis is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways are Signal Transduction and MET promotes cell motility. Affiliated tissues include bone and heart, and related phenotypes are avascular necrosis and cranial nerve paralysis

UniProtKB/Swiss-Prot: 73 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.

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 08-Dec-2022)

Disease Ontology: 11 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.

Orphanet: 58 Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.

Wikipedia: 75 Metachondromatosis is an autosomal dominant, incompletely penetrant genetic disease affecting the growth... more...

Related Diseases for Metachondromatosis

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

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 exostoses, multiple, type i 32.0 EXT2 EXT1
2 hereditary multiple osteochondromas 30.9 EXT2 EXT1
3 osteochondroma 30.5 PTHLH EXT2 EXT1
4 hereditary multiple exostoses 30.0 IHH EXT2 EXT1
5 chondrosarcoma 29.8 SOX9 PTHLH EXT2 EXT1 COL10A1
6 osteochondrosis 29.8 SOX9 IHH COL2A1
7 exostosis 29.7 SOX9 PTHLH IHH EXT2 EXT1 COL2A1
8 metaphyseal dysplasia 29.6 PTHLH PTH1R COL2A1 COL10A1
9 cartilage disease 29.5 SOX9 IHH COL2A1 COL10A1
10 noonan syndrome 1 29.3 SRC SOS1 PTS PTPN11
11 noonan syndrome with multiple lentigines 29.3 SRC SOS1 PTS PTPN11
12 enchondromatosis, multiple, ollier type 29.3 SOX9 PTPN11 PTHLH PTH1R IHH EXT2
13 multiple enchondromatosis, maffucci type 29.1 PTPN11 PTHLH PTH1R IHH EXT2 EXT1
14 rasopathy 29.0 SRC SOS1 PTS PTPN11
15 osteochondrodysplasia 28.2 SP7 SOX9 PTPN11 PTHLH PTH1R IHH
16 bone disease 28.0 SRC SP7 PTHLH PTH1R EXT2 EXT1
17 ankylosing spondylitis 3 10.3 EXT2 EXT1
18 periosteal osteogenic sarcoma 10.3 EXT2 EXT1
19 juxtacortical chondroma 10.3 EXT2 EXT1
20 charcot-marie-tooth disease, x-linked recessive, 3 10.3 EXT2 EXT1
21 charcot-marie-tooth disease, x-linked recessive, 2 10.3 EXT2 EXT1
22 camptodactyly-tall stature-scoliosis-hearing loss syndrome 10.2 PTH1R IHH
23 avascular necrosis 10.2
24 tooth ankylosis 10.2 PTHLH PTH1R
25 hypercalcemia, infantile, 1 10.2 PTHLH PTH1R
26 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.2 PTH1R IHH
27 clear cell chondrosarcoma 10.2 PTHLH EXT2
28 eiken syndrome 10.2 PTHLH PTH1R
29 coxa vara 10.2 COL2A1 COL10A1
30 chondrodysplasia, blomstrand type 10.2 PTHLH PTH1R
31 primary bone dysplasia 10.2 CTSK COL2A1
32 hypertension and brachydactyly syndrome 10.1 PTHLH PTH1R
33 spondyloperipheral dysplasia 10.1 COL2A1 COL10A1
34 platyspondylic lethal skeletal dysplasia, torrance type 10.1 COL2A1 COL10A1
35 spondyloepiphyseal dysplasia, nishimura type 10.1 COL2A1 COL10A1
36 hypochondrogenesis 10.1 COL2A1 COL10A1
37 keratosis pilaris atrophicans faciei 10.1 SOS1 PTPN11
38 villonodular synovitis 10.1 SOS1 PTPN11
39 periosteal chondrosarcoma 10.1 EXT2 EXT1 COL2A1
40 avascular necrosis of femoral head, primary, 1 10.1
41 trichorhinophalangeal syndrome 10.1
42 enchondroma 10.1
43 skin granular cell tumor 10.1 SOS1 PTPN11
44 metaphyseal chondrodysplasia, jansen type 10.1 PTHLH PTH1R
45 larsen syndrome 10.1 EXT2 EXT1 COL2A1
46 syndactyly, type v 10.1 SOX9 PTHLH
47 pigmented villonodular synovitis 10.1 SOS1 PTPN11
48 achondrogenesis, type ii 10.1 COL2A1 COL10A1
49 thanatophoric dysplasia, type i 10.1 PTH1R IHH COL2A1
50 acromesomelic dysplasia 10.0 IHH COL2A1 COL10A1

Graphical network of the top 20 diseases related to Metachondromatosis:



Diseases related to Metachondromatosis

Symptoms & Phenotypes for Metachondromatosis

Human phenotypes related to Metachondromatosis:

58 30 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 avascular necrosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010885
2 cranial nerve paralysis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006824
3 bone pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002653
4 multiple enchondromatosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005701
5 exostoses 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100777
6 abnormal epiphysis morphology 30 Hallmark (90%) HP:0005930
7 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
8 bowing of the long bones 30 HP:0006487
9 abnormality of the metaphysis 58 Very frequent (99-80%)
10 abnormality of epiphysis morphology 58 Very frequent (99-80%)
11 abnormal joint morphology 30 HP:0001367
12 multiple digital exostoses 30 HP:0005655

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Metachondromatosis:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.34 COL10A1 COL2A1 CTSK DDRGK1 EXT1 IHH
2 nervous system MP:0003631 10.33 COL10A1 COL2A1 CTSK EXT1 IHH PTH1R
3 limbs/digits/tail MP:0005371 10.31 COL10A1 COL2A1 CTSK DDRGK1 EXT1 IHH
4 endocrine/exocrine gland MP:0005379 10.21 COL10A1 CTSK IHH PTH1R PTHLH PTPN11
5 cellular MP:0005384 10.21 COL10A1 COL2A1 CTSK DDRGK1 EXT1 IHH
6 craniofacial MP:0005382 10.2 COL10A1 COL2A1 CTSK EXT1 IHH PTH1R
7 embryo MP:0005380 10.19 COL2A1 DDRGK1 EXT1 EXT2 IHH PTH1R
8 digestive/alimentary MP:0005381 10.18 COL2A1 CTSK EXT1 IHH PTH1R PTHLH
9 behavior/neurological MP:0005386 10.14 COL10A1 COL2A1 CTSK DDRGK1 EXT1 PTH1R
10 immune system MP:0005387 10.11 COL10A1 COL2A1 CTSK DDRGK1 PTH1R PTHLH
11 skeleton MP:0005390 10.1 COL10A1 COL2A1 CTSK DDRGK1 EXT1 EXT2
12 respiratory system MP:0005388 9.97 COL2A1 CTSK IHH PTH1R PTHLH PTPN11
13 vision/eye MP:0005391 9.81 COL2A1 EXT1 IHH PTH1R PTHLH PTPN11
14 hematopoietic system MP:0005397 9.65 COL10A1 CTSK DDRGK1 PTH1R PTHLH PTPN11
15 mortality/aging MP:0010768 9.47 COL10A1 COL2A1 DDRGK1 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 28 PTPN11

Anatomical Context for Metachondromatosis

Organs/tissues related to Metachondromatosis:

MalaCards : Bone, Heart

Publications for Metachondromatosis

Articles related to Metachondromatosis:

(show top 50) (show all 77)
# Title Authors PMID Year
1
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 62 57 5
21533187 2011
2
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. 62 57 5
20577567 2010
3
Metachondromatosis. Report of four cases. 62 57
3873457 1985
4
Metachondromatosis. 62 57
6602353 1983
5
[Metachondromatosis, 3 case reports with hereditary occurrence]. 62 57
6979336 1982
6
The widened spectrum of multiple cartilaginous exostosis (MCE). 62 57
1085923 1975
7
[Metachondromatosis]. 62 57
5313319 1971
8
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. 5
28957739 2018
9
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 5
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. 5
28483241 2017
11
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 5
27521173 2016
12
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 5
26785492 2015
13
[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. 5
25912702 2015
14
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 5
24803665 2014
15
Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 5
24628801 2014
16
Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 5
23726368 2013
17
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 5
21407260 2011
18
Lethal presentation of neurofibromatosis and Noonan syndrome. 5
21567923 2011
19
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 5
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. 5
20308328 2010
21
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 5
19509418 2009
22
Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 5
18253957 2008
23
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. 5
16399795 2006
24
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 5
15987685 2005
25
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 5
14974085 2004
26
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 5
11704759 2001
27
Arthroscopic resection of femoral neck osteochondroma: Report of a pediatric case of metachondromatosis. 62
31522903 2022
28
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis. 62
35112464 2022
29
Update on the imaging features of the enchondromatosis syndromes. 62
34302201 2022
30
Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2. 62
36407105 2022
31
Targeted Ptpn11 deletion in mice reveals the essential role of SHP2 in osteoblast differentiation and skeletal homeostasis. 62
33500396 2021
32
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. 62
31464257 2019
33
Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report. 62
29703018 2018
34
Chondrosarcoma in Metachondromatosis: A Rare Case Report. 62
29373887 2017
35
SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes. 62
28983104 2017
36
Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders. 62
27240490 2016
37
Metachondromatosis without Enchondromas: A Case Report and Review of the Literature. 62
29252664 2016
38
Exostoses, enchondromatosis and metachondromatosis; diagnosis and management. 62
26984661 2016
39
[The Biological Function of SHP2 in Human Disease]. 62
27028808 2016
40
SHP2-Deficiency in Chondrocytes Deforms Orofacial Cartilage and Ciliogenesis in Mice. 62
25919282 2015
41
SHP2 sails from physiology to pathology. 62
26341048 2015
42
ERK1 and ERK2 regulate chondrocyte terminal differentiation during endochondral bone formation. 62
25401279 2015
43
Intraosseous atypical chondroid tumor or chondrosarcoma grade 1 in patients with multiple osteochondromas. 62
25568391 2015
44
Regulation of bone and skeletal development by the SHP-2 protein tyrosine phosphatase. 62
25178522 2014
45
Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusions. 62
23929766 2014
46
SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates. 62
24875294 2014
47
Metachondromatosis: more than just multiple osteochondromas. 62
24432109 2013
48
Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling. 62
23863940 2013
49
From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis. 62
25003010 2013
50
Enchondromatosis revisited: new classification with molecular basis. 62
22791316 2012

Variations for Metachondromatosis

ClinVar genetic disease variations for Metachondromatosis:

5 (show top 50) (show all 139)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PTPN11 NM_002834.5(PTPN11):c.409_413del (p.Val137fs) DEL Pathogenic
31547 rs398122857 GRCh37: 12:112891075-112891079
GRCh38: 12:112453271-112453275
2 PTPN11 NM_002834.5(PTPN11):c.458_463delinsAAGAACACAGGGGAGAGCA (p.Thr153fs) INDEL Pathogenic
31548 rs398122858 GRCh37: 12:112891124-112891129
GRCh38: 12:112453320-112453325
3 PTPN11 NM_002834.5(PTPN11):c.353_354del (p.Ser118fs) MICROSAT Pathogenic
31549 rs398122859 GRCh37: 12:112891014-112891015
GRCh38: 12:112453210-112453211
4 PTPN11 NM_002834.5(PTPN11):c.1516C>T (p.Gln506Ter) SNV Pathogenic
31550 rs387907157 GRCh37: 12:112926896-112926896
GRCh38: 12:112489092-112489092
5 PTPN11 NM_002834.5(PTPN11):c.1315del (p.Leu439fs) DEL Pathogenic
31551 rs398122860 GRCh37: 12:112924368-112924368
GRCh38: 12:112486564-112486564
6 PTPN11 NM_002834.5(PTPN11):c.643-2A>C SNV Pathogenic
31552 rs398122861 GRCh37: 12:112893752-112893752
GRCh38: 12:112455948-112455948
7 PTPN11 NM_002834.5(PTPN11):c.295A>T (p.Lys99Ter) SNV Pathogenic
31553 rs387907158 GRCh37: 12:112888279-112888279
GRCh38: 12:112450475-112450475
8 PTPN11 NM_002834.5(PTPN11):c.1093-1G>T SNV Pathogenic
31554 rs398122862 GRCh37: 12:112919877-112919877
GRCh38: 12:112482073-112482073
9 PTPN11 NG_007459.1:g.45924_60608delinsCA INDEL Pathogenic
31555 GRCh37: 12:112897459-112912143
GRCh38: 12:112459655-112474339
10 PTPN11 NM_002834.5(PTPN11):c.661del (p.Arg220_Ile221insTer) DEL Pathogenic
44611 rs397516807 GRCh37: 12:112893772-112893772
GRCh38: 12:112455968-112455968
11 PTPN11 NM_002834.5(PTPN11):c.1339del (p.Glu447fs) DEL Pathogenic
829985 rs1592852978 GRCh37: 12:112924392-112924392
GRCh38: 12:112486588-112486588
12 PTPN11 NM_002834.5(PTPN11):c.412C>T (p.Arg138Ter) SNV Pathogenic
13348 rs267606989 GRCh37: 12:112891078-112891078
GRCh38: 12:112453274-112453274
13 PTPN11 NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) SNV Pathogenic
40502 rs397507514 GRCh37: 12:112888212-112888212
GRCh38: 12:112450408-112450408
14 PTPN11 NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) SNV Pathogenic
13349 rs267606990 GRCh37: 12:112856920-112856920
GRCh38: 12:112419116-112419116
15 PTPN11 NM_002834.5(PTPN11):c.514_524del (p.Ile172fs) DEL Pathogenic
13347 GRCh37: 12:112891180-112891190
GRCh38: 12:112453376-112453386
16 PTPN11 NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) SNV Pathogenic
40489 rs397507506 GRCh37: 12:112888158-112888158
GRCh38: 12:112450354-112450354
17 PTPN11 NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) SNV Pathogenic
40558 rs397507545 GRCh37: 12:112926887-112926887
GRCh38: 12:112489083-112489083
18 PTPN11 NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) SNV Pathogenic
13325 rs121918454 GRCh37: 12:112888199-112888199
GRCh38: 12:112450395-112450395
19 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV Pathogenic
40513 rs397507520 GRCh37: 12:112891083-112891083
GRCh38: 12:112453279-112453279
20 PTPN11 NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) SNV Pathogenic
13334 rs121918462 GRCh37: 12:112888202-112888202
GRCh38: 12:112450398-112450398
21 PTPN11 NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) SNV Pathogenic
Pathogenic
13326 rs28933386 GRCh37: 12:112915523-112915523
GRCh38: 12:112477719-112477719
22 PTPN11 NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) SNV Pathogenic
13340 rs121918466 GRCh37: 12:112888220-112888220
GRCh38: 12:112450416-112450416
23 PTPN11 NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) SNV Pathogenic
13331 rs121918457 GRCh37: 12:112926270-112926270
GRCh38: 12:112488466-112488466
24 PTPN11 NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) SNV Pathogenic
Pathogenic
13333 rs121918459 GRCh37: 12:112888172-112888172
GRCh38: 12:112450368-112450368
25 PTPN11 NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) SNV Pathogenic
13327 rs121918455 GRCh37: 12:112915524-112915524
GRCh38: 12:112477720-112477720
26 PTPN11 NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) SNV Pathogenic
13329 rs121918460 GRCh37: 12:112888168-112888168
GRCh38: 12:112450364-112450364
27 PTPN11 NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) SNV Pathogenic
13324 rs121918453 GRCh37: 12:112888198-112888198
GRCh38: 12:112450394-112450394
28 PTPN11 NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) SNV Pathogenic
40528 rs397507531 GRCh37: 12:112910844-112910844
GRCh38: 12:112473040-112473040
29 PTPN11 NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) SNV Pathogenic
40559 rs397507545 GRCh37: 12:112926887-112926887
GRCh38: 12:112489083-112489083
30 PTPN11 NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) SNV Pathogenic
Pathogenic
40562 rs397507547 GRCh37: 12:112926890-112926890
GRCh38: 12:112489086-112489086
31 PTPN11 NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) SNV Pathogenic
40487 rs397507505 GRCh37: 12:112888156-112888156
GRCh38: 12:112450352-112450352
32 PTPN11 NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) SNV Pathogenic
13328 rs121918456 GRCh37: 12:112910827-112910827
GRCh38: 12:112473023-112473023
33 PTPN11 NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) SNV Pathogenic
Pathogenic
40522 rs376607329 GRCh37: 12:112910785-112910785
GRCh38: 12:112472981-112472981
34 PTPN11 NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) SNV Pathogenic
40525 rs397507529 GRCh37: 12:112910835-112910835
GRCh38: 12:112473031-112473031
35 PTPN11 NM_002834.5(PTPN11):c.1546_1547insCTATCTATA (p.Tyr515_Met516insThrIleTyr) INSERT Likely Pathogenic
1708482 GRCh37: 12:112926918-112926919
GRCh38: 12:112489114-112489115
36 PTPN11 NM_002834.5(PTPN11):c.1070del (p.Thr357fs) DEL Likely Pathogenic
1679347 GRCh37: 12:112915797-112915797
GRCh38: 12:112477993-112477993
37 PTPN11 NM_002834.5(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.265_269del (p.Lys89fs) DEL Uncertain Significance
981580 GRCh37: 12:112888248-112888252
GRCh38: 12:112450444-112450448
39 PTPN11 NM_002834.5(PTPN11):c.*1015C>G SNV Uncertain Significance
307237 rs538946251 GRCh37: 12:112944611-112944611
GRCh38: 12:112506807-112506807
40 PTPN11 NM_002834.5(PTPN11):c.*1536T>G SNV Uncertain Significance
307246 rs371375321 GRCh37: 12:112945132-112945132
GRCh38: 12:112507328-112507328
41 PTPN11 NM_002834.5(PTPN11):c.14+8G>T SNV Uncertain Significance
307224 rs886048965 GRCh37: 12:112856937-112856937
GRCh38: 12:112419133-112419133
42 PTPN11 NM_002834.5(PTPN11):c.-139G>A SNV Uncertain Significance
307223 rs886048964 GRCh37: 12:112856777-112856777
GRCh38: 12:112418973-112418973
43 PTPN11 NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala) SNV Uncertain Significance
488168 rs1555267825 GRCh37: 12:112891139-112891139
GRCh38: 12:112453335-112453335
44 PTPN11 NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) SNV Uncertain Significance
40540 rs146571700 GRCh37: 12:112915775-112915775
GRCh38: 12:112477971-112477971
45 PTPN11 NM_002834.5(PTPN11):c.*802G>A SNV Uncertain Significance
882617 rs753900307 GRCh37: 12:112944398-112944398
GRCh38: 12:112506594-112506594
46 PTPN11 NM_002834.5(PTPN11):c.*1616C>T SNV Uncertain Significance
882664 rs1340461859 GRCh37: 12:112945212-112945212
GRCh38: 12:112507408-112507408
47 PTPN11 NM_002834.5(PTPN11):c.*2179C>T SNV Uncertain Significance
882713 rs1269783582 GRCh37: 12:112945775-112945775
GRCh38: 12:112507971-112507971
48 PTPN11 NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu) SNV Uncertain Significance
591599 rs1566185599 GRCh37: 12:112924415-112924415
GRCh38: 12:112486611-112486611
49 PTPN11 NM_002834.5(PTPN11):c.1379+6A>G SNV Uncertain Significance
496182 rs746958309 GRCh37: 12:112924439-112924439
GRCh38: 12:112486635-112486635
50 PTPN11 NM_002834.5(PTPN11):c.*682T>C SNV Uncertain Significance
883350 rs1223950825 GRCh37: 12:112944278-112944278
GRCh38: 12:112506474-112506474

Expression for Metachondromatosis

Search GEO for disease gene expression data for Metachondromatosis.

Pathways for Metachondromatosis

Pathways related to Metachondromatosis according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1 13.39 SRC SOX9 SOS1 PTPN11 PTHLH PTH1R
2
Show member pathways
12.2 SRC SOS1 PTPN11 COL2A1
3
Show member pathways
12 SRC PTHLH PTH1R
4
Show member pathways
11.86 SRC SOS1 PTPN11
5
Show member pathways
11.83 SRC SOS1 PTPN11
6 11.81 SRC SOS1 PTPN11
7 11.79 PTPN11 SOS1 SRC
8
Show member pathways
11.76 SRC SOS1 COL2A1
9
Show member pathways
11.72 SRC SOS1 PTPN11
10
Show member pathways
11.7 SRC SOS1 PTPN11
11 11.68 SP7 SOX9 COL2A1
12
Show member pathways
11.57 SRC SOS1 PTPN11
13 11.5 PTPN11 SOS1 SRC
14
Show member pathways
11.42 SRC SP7 IHH
15
Show member pathways
11.4 SRC SOS1 PTPN11 COL2A1
16 11.36 SRC PTPN11 COL2A1
17 11.31 SRC SOS1 PTPN11
18
Show member pathways
11.2 SOX9 PTHLH PTH1R IHH COL2A1 COL10A1
19 11.14 PTHLH PTH1R IHH
20 10.99 SRC SOS1
21 10.94 SRC SOS1 PTPN11
22 10.86 EXT2 EXT1
23 10.83 SRC PTPN11
24 10.69 SOX9 PTHLH PTH1R IHH

GO Terms for Metachondromatosis

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.48 SRC SOX9 SOS1 PTPN11 PTHLH PTH1R
2 multicellular organism growth GO:0035264 10.1 SOS1 PTPN11 IHH EXT1
3 fibroblast growth factor receptor signaling pathway GO:0008543 10.08 SOS1 PTPN11 EXT1
4 bone mineralization GO:0030282 10.08 SOX9 PTHLH PTH1R
5 gene expression GO:0010467 10.05 SP7 SOX9 EXT2 EXT1
6 cellular response to transforming growth factor beta stimulus GO:0071560 10.04 SRC SOX9 CTSK
7 epidermal growth factor receptor signaling pathway GO:0007173 10.01 SRC SOX9 SOS1 PTPN11
8 cartilage development GO:0051216 10 SOX9 IHH DDRGK1 COL2A1
9 chondrocyte proliferation GO:0035988 9.97 IHH EXT1
10 heparin biosynthetic process GO:0030210 9.96 EXT2 EXT1
11 multicellular organismal water homeostasis GO:0050891 9.96 EXT1 EXT2
12 limb bud formation GO:0060174 9.96 COL2A1 SOX9
13 cellular response to BMP stimulus GO:0071773 9.96 SOX9 EXT1 COL2A1
14 notochord development GO:0030903 9.95 SOX9 COL2A1
15 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.95 SRC DDRGK1
16 cell population proliferation GO:0008283 9.95 EXT1 IHH PTH1R SOX9 SRC
17 proteoglycan metabolic process GO:0006029 9.94 IHH COL2A1
18 glandular epithelial cell differentiation GO:0002067 9.93 EXT1 SOX9
19 cellular response to zinc ion starvation GO:0034224 9.93 CTSK SP7
20 positive regulation of small GTPase mediated signal transduction GO:0051057 9.92 SOS1 SRC
21 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.92 COL2A1 EXT1
22 negative regulation of chondrocyte differentiation GO:0032331 9.92 SOX9 PTPN11 PTHLH IHH
23 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.91 EXT2 EXT1
24 neurotrophin TRK receptor signaling pathway GO:0048011 9.91 SRC SOS1 PTPN11
25 embryonic skeletal joint development GO:0072498 9.88 EXT1 IHH
26 anterior head development GO:0097065 9.88 SOX9 COL2A1
27 chondrocyte differentiation involved in endochondral bone morphogenesis GO:0003413 9.87 SOX9 IHH
28 ossification GO:0001503 9.86 SOX9 PTH1R IHH EXT2 EXT1 COL2A1
29 chondrocyte hypertrophy GO:0003415 9.85 EXT1 SOX9
30 bone resorption GO:0045453 9.85 CTSK EXT1 IHH PTH1R SRC
31 cellular polysaccharide biosynthetic process GO:0033692 9.84 EXT1 EXT2
32 fluid transport GO:0042044 9.83 EXT1 EXT2
33 skeletal system development GO:0001501 9.8 SOX9 PTHLH PTH1R IHH EXT1 COL2A1
34 otic vesicle development GO:0071599 9.77 COL2A1 SOX9
35 endochondral bone morphogenesis GO:0060350 9.67 EXT1 EXT2 SOX9
36 chondrocyte differentiation GO:0002062 9.32 SOX9 PTH1R IHH EXT2 EXT1 COL2A1

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

# Name GO ID Score Top Affiliating Genes
1 peptide hormone receptor binding GO:0051428 9.56 PTPN11 PTHLH
2 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.46 EXT2 EXT1
3 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 9.26 EXT2 EXT1
4 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 8.92 EXT2 EXT1

Sources for Metachondromatosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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