MCID: MTC018
MIFTS: 29

Metachondromatosis malady

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

Aliases & Classifications for Metachondromatosis

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Metachondromatosis:

Name: Metachondromatosis 52 48 24 54 70 27 12 68
Metcds 48
 
Mc 70

Characteristics:

Orphanet epidemiological data:

54
metachondromatosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

64
metachondromatosis:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 156250
Orphanet54 ORPHA2499
UMLS via Orphanet69 C0410530
ICD10 via Orphanet31 Q78.4
MedGen37 C0410530
MeSH39 D018210

Summaries for Metachondromatosis

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NIH Rare Diseases:48 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 exostoses, multiple, type 1 and multiple enchondromatosis, maffucci type, 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:70 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:71 Metachondromatosis is an autosomal dominantincompletely penetrantskeletal disorder affecting the growth... more...

Description from OMIM:52 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
1exostoses, multiple, type 110.8
2multiple enchondromatosis, maffucci type10.8
3enchondromatosis, multiple, ollier type10.8
4osteochondroma9.9
5otofaciocervical syndrome9.7
6chondrosarcoma9.7
7trichorhinophalangeal syndrome, type ii9.7
8avascular necrosis of the femoral head9.7
9dysplasia epiphysealis hemimelica9.7

Graphical network of diseases related to Metachondromatosis:



Diseases related to metachondromatosis

Symptoms & Phenotypes for Metachondromatosis

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Symptoms by clinical synopsis from OMIM:

156250

Clinical features from OMIM:

156250

Human phenotypes related to Metachondromatosis:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 chondrocalcinosis64 hallmark (90%) HP:0000934
2 abnormality of the metaphyses64 hallmark (90%) HP:0000944
3 abnormality of pelvic girdle bone morphology64 hallmark (90%) HP:0002644
4 bone pain64 hallmark (90%) HP:0002653
5 multiple enchondromatosis64 hallmark (90%) HP:0005701
6 abnormality of epiphysis morphology64 hallmark (90%) HP:0005930
7 cranial nerve paralysis64 hallmark (90%) HP:0006824
8 aseptic necrosis64 hallmark (90%) HP:0010885
9 exostoses64 hallmark (90%) HP:0100777
10 abnormal joint morphology64 HP:0001367
11 multiple digital exostoses64 HP:0005655
12 bowing of the long bones64 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 Metachondromatosis27 24 PTPN11

Anatomical Context for Metachondromatosis

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MalaCards organs/tissues related to Metachondromatosis:

36
Bone

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, NT514deletionPathogenicChr na, -1: -1
2PTPN11NM_002834.4(PTPN11): c.412C> T (p.Arg138Ter)SNVPathogenicrs267606989GRCh37Chr 12, 112891078: 112891078
3PTPN11NM_002834.4(PTPN11): c.409_413delGTACG (p.Val137Argfs)deletionPathogenicrs398122857GRCh37Chr 12, 112891075: 112891079
4PTPN11NM_002834.4(PTPN11)indelPathogenicGRCh37Chr 12, 112891124: 112891134
5PTPN11NM_002834.4(PTPN11): c.353_354delCT (p.Ser118Trpfs)deletionPathogenicrs398122859GRCh37Chr 12, 112891019: 112891020
6PTPN11NM_002834.4(PTPN11): c.1516C> T (p.Gln506Ter)SNVPathogenicrs387907157GRCh37Chr 12, 112926896: 112926896
7PTPN11NM_002834.4(PTPN11): c.1315delC (p.Leu439Trpfs)deletionPathogenicrs398122860GRCh37Chr 12, 112924369: 112924369
8PTPN11NM_002834.4(PTPN11): c.643-2A> CSNVPathogenicrs398122861GRCh37Chr 12, 112893752: 112893752
9PTPN11NM_002834.4(PTPN11): c.295A> T (p.Lys99Ter)SNVPathogenicrs387907158GRCh37Chr 12, 112888279: 112888279
10PTPN11NM_002834.4(PTPN11): c.1093-1G> TSNVPathogenicrs398122862GRCh37Chr 12, 112919877: 112919877
11PTPN11NG_007459.1: g.45924_60608delinsCAindelPathogenicGRCh37Chr 12, 112897459: 112912143
12PTPN11NM_002834.4(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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet