MCID: MTC018
MIFTS: 30

Metachondromatosis malady

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

Aliases & Classifications for Metachondromatosis

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Metachondromatosis:

Name: Metachondromatosis 50 46 23 52 68 25 12 66
Metcds 46
 
Mc 68

Characteristics:

Orphanet epidemiological data:

52
metachondromatosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
metachondromatosis:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 156250
Orphanet52 ORPHA2499
ICD10 via Orphanet29 Q78.4
UMLS via Orphanet67 C0410530
MedGen35 C0410530
MeSH37 D018210

Summaries for Metachondromatosis

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NIH Rare Diseases:46 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. last updated: 10/9/2012

MalaCards based summary: Metachondromatosis, also known as metcds, is related to osteochondroma and exostoses, multiple, type 1, and has symptoms including chondrocalcinosis, abnormality of the metaphyses and abnormality of pelvic girdle bone morphology. An important gene associated with Metachondromatosis is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11). Affiliated tissues include bone.

UniProtKB/Swiss-Prot:68 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:69 Metachondromatosis is an autosomal dominantincompletely penetrantskeletal disorder affecting the growth... more...

Description from OMIM:50 156250

Related Diseases for Metachondromatosis

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

idRelated DiseaseScoreTop Affiliating Genes
1osteochondroma10.0
2exostoses, multiple, type 19.9
3multiple enchondromatosis, maffucci type9.9
4enchondromatosis, multiple, ollier type9.9
5otofaciocervical syndrome9.9
6chondrosarcoma9.9
7trichorhinophalangeal syndrome, type ii9.9
8avascular necrosis of the femoral head9.9
9dysplasia epiphysealis hemimelica9.9

Graphical network of diseases related to Metachondromatosis:



Diseases related to metachondromatosis

Symptoms for Metachondromatosis

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Symptoms by clinical synopsis from OMIM:

156250

Clinical features from OMIM:

156250

HPO human phenotypes related to Metachondromatosis:

(show all 13)
id Description Frequency HPO Source Accession
1 chondrocalcinosis hallmark (90%) HP:0000934
2 abnormality of the metaphyses hallmark (90%) HP:0000944
3 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
4 bone pain hallmark (90%) HP:0002653
5 multiple enchondromatosis hallmark (90%) HP:0005701
6 abnormality of epiphysis morphology hallmark (90%) HP:0005930
7 cranial nerve paralysis hallmark (90%) HP:0006824
8 aseptic necrosis hallmark (90%) HP:0010885
9 exostoses hallmark (90%) HP:0100777
10 abnormal joint morphology HP:0001367
11 multiple digital exostoses HP:0005655
12 multiple enchondromatosis HP:0005701
13 bowing of the long bones HP:0006487

Drugs & Therapeutics for Metachondromatosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Metachondromatosis

Genetic Tests for Metachondromatosis

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Genetic tests related to Metachondromatosis:

id Genetic test Affiliating Genes
1 Metachondromatosis25 23 PTPN11

Anatomical Context for Metachondromatosis

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MalaCards organs/tissues related to Metachondromatosis:

34
Bone

Animal Models for Metachondromatosis or affiliated genes

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Publications for Metachondromatosis

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Articles related to Metachondromatosis:

(show all 25)
idTitleAuthorsYear
1
Exostoses, enchondromatosis and metachondromatosis; diagnosis and management. (26984661)
2016
2
Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders. (27240490)
2016
3
Metachondromatosis: more than just multiple osteochondromas. (24432109)
2013
4
From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis. (25003010)
2013
5
Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusions. (23929766)
2013
6
Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling. (23863940)
2013
7
EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis. (21892728)
2012
8
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. (21533187)
2011
9
Chondrosarcoma in metachondromatosis: a case report. (20516327)
2010
10
Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis. (17688470)
2007
11
EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis. (16622899)
2006
12
Pathological fractures; a consideration with metachondromatosis and differential diagnoses. Osteochondromatosis and Gauchers disease. (17987186)
2002
13
Erratum: metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome (Pediatr radiol (1997) 27: 436-441) (9361046)
1997
14
Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864. (9133359)
1997
15
Metachondromatosis. (8577506)
1995
16
Metachondromatosis. (7538882)
1995
17
Metachondromatosis: a report of two cases in a family. (1506743)
1992
18
Metachondromatosis and avascular necrosis of the femoral head: a radiographic and histologic correlation. (2056076)
1991
19
Avascular necrosis of the capital femoral epiphysis in metachondromatosis. (2394820)
1990
20
Roentgen rounds #89. Metachondromatosis. (3502612)
1987
21
Metachondromatosis. Report of four cases. (3873457)
1985
22
Metachondromatosis. (6602353)
1983
23
Metachondromatosis. (6980764)
1982
24
Metachondromatosis: report of a case in a 6 year old boy. (1137528)
1975
25
Metachondromatosis. (4547387)
1974

Variations for Metachondromatosis

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Clinvar genetic disease variations for Metachondromatosis:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1PTPN11PTPN11, 11-BP DEL, NT514deletionPathogenic
2PTPN11NM_002834.3(PTPN11): c.412C> T (p.Arg138Ter)single nucleotide variantPathogenicrs267606989GRCh37Chr 12, 112891078: 112891078
3PTPN11NM_002834.3(PTPN11): c.409_413delGTACG (p.Val137Argfs)deletionPathogenicrs398122857GRCh37Chr 12, 112891075: 112891079
4PTPN11NM_002834.3(PTPN11)indelPathogenicGRCh37Chr 12, 112891124: 112891134
5PTPN11NM_002834.3(PTPN11): c.353_354delCT (p.Ser118Trpfs)deletionPathogenicrs398122859GRCh37Chr 12, 112891019: 112891020
6PTPN11NM_002834.3(PTPN11): c.1516C> T (p.Gln506Ter)single nucleotide variantPathogenicrs387907157GRCh37Chr 12, 112926896: 112926896
7PTPN11NM_002834.3(PTPN11): c.1315delC (p.Leu439Trpfs)deletionPathogenicrs398122860GRCh37Chr 12, 112924369: 112924369
8PTPN11NM_002834.3(PTPN11): c.643-2A> Csingle nucleotide variantPathogenicrs398122861GRCh37Chr 12, 112893752: 112893752
9PTPN11NM_002834.3(PTPN11): c.295A> T (p.Lys99Ter)single nucleotide variantPathogenicrs387907158GRCh37Chr 12, 112888279: 112888279
10PTPN11NM_002834.3(PTPN11): c.1093-1G> Tsingle nucleotide variantPathogenicrs398122862GRCh37Chr 12, 112919877: 112919877
11PTPN11NG_007459.1: g.45924_60608delinsCAindelPathogenicGRCh37Chr 12, 112897459: 112912143
12PTPN11NM_002834.3(PTPN11): c.661delA (p.Ile221Terfs)deletionPathogenicrs397516807GRCh37Chr 12, 112893772: 112893772

Expression for genes affiliated with Metachondromatosis

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Search GEO for disease gene expression data for Metachondromatosis.

Pathways for genes affiliated with Metachondromatosis

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GO Terms for genes affiliated with Metachondromatosis

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Sources for Metachondromatosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet