MCID: MTC018
MIFTS: 33

Metachondromatosis malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Metachondromatosis

About this section
Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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: Metachondromatosis, also known as metcds, is related to ollier disease and osteochondroma, and has symptoms including bone pain, enchondroses and periarticular tissue anomaly/extraarticular calcifications. An important gene associated with Metachondromatosis is PTPN11 (protein tyrosine phosphatase, non-receptor type 11). Affiliated tissues include bone.

Wikipedia:66 Metachondromatosis is an autosomal dominantincompletely penetrantskeletal disorder affecting the growth... more...

Description from OMIM:48 156250

Aliases & Classifications for Metachondromatosis

About this section
Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

50
metachondromatosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

metachondromatosis 44 21 23 48 50 63
metcds 44


External Ids:

OMIM48 156250
ICD10 via Orphanet27 Q78.4
SNOMED-CT via Orphanet60 205481009
UMLS via Orphanet64 C0410530

Related Diseases for Metachondromatosis

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1ollier disease10.2
2osteochondroma10.2
3trichorhinophalangeal syndrome type ii10.0
4chondrosarcoma10.0
5dysplasia epiphysealis hemimelica10.0
6exostoses, multiple, type 110.0
7avascular necrosis of the femoral head10.0

Graphical network of diseases related to Metachondromatosis:



Diseases related to metachondromatosis

Symptoms for Metachondromatosis

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

156250

Clinical features from OMIM:

156250

Symptoms:

50 (show all 10)
  • bone pain
  • enchondroses
  • periarticular tissue anomaly/extraarticular calcifications
  • metaphyseal anomaly
  • exostoses
  • cranial nerves palsy
  • osteonecrosis/bone infarction
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • autosomal dominant inheritance
  • epiphyseal anomaly

Drugs & Therapeutics for Metachondromatosis

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Metachondromatosis

Drug clinical trials:

Search ClinicalTrials for Metachondromatosis

Search NIH Clinical Center for Metachondromatosis

Search CenterWatch for Metachondromatosis

Genetic Tests for Metachondromatosis

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Metachondromatosis:

id Genetic test Affiliating Genes
1 Metachondromatosis21 23 PTPN11

Anatomical Context for Metachondromatosis

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Metachondromatosis:

34
Bone

Animal Models for Metachondromatosis or affiliated genes

About this section

Publications for Metachondromatosis

About this section
Sources:
53PubMed
See all sources

Articles related to Metachondromatosis:

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

Variations for Metachondromatosis

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

Clinvar genetic disease variations for Metachondromatosis:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1PTPN11PTPN11, 11-BP DEL, NT514deletionPathogenic/card/metachondromatosis
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): c.458_468delCTGGTGATGACinsAAGAACACAGGGGAGAGCAATGAC (p.Thr153Lysfs)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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Metachondromatosis

Search GEO for disease gene expression data for Metachondromatosis.

Pathways for genes affiliated with Metachondromatosis

About this section

Compounds for genes affiliated with Metachondromatosis

About this section

GO Terms for genes affiliated with Metachondromatosis

About this section

Products for genes affiliated with Metachondromatosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Metachondromatosis

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet