MCID: MTC018
MIFTS: 33

Metachondromatosis malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Metachondromatosis

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NIH Rare Diseases:42 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 ollier disease and osteochondroma, and has symptoms including pelvis anomaly/narrow/broad iliac wings/pubis abnormality, cranial nerves palsy and exostoses. An important gene associated with Metachondromatosis is PTPN11 (protein tyrosine phosphatase, non-receptor type 11). Affiliated tissues include bone.

Wikipedia:65 Metachondromatosis is an autosomal dominantincompletely penetrantskeletal disorder affecting the growth... more...

Description from OMIM:46 156250

Aliases & Classifications for Metachondromatosis

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Metachondromatosis, Aliases & Descriptions:

Name: Metachondromatosis 42 20 22 46 48 62
 
Metcds 42 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
metachondromatosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


External Ids:

OMIM46 156250
ICD10 via Orphanet26 Q78.4
UMLS via Orphanet63 C0410530

Related Diseases for Metachondromatosis

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

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

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

Symptoms:

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

HPO human phenotypes related to Metachondromatosis:

(show all 14)
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 the epiphyses 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 autosomal dominant inheritance HP:0000006
11 abnormal joint morphology HP:0001367
12 multiple digital exostoses HP:0005655
13 multiple enchondromatosis HP:0005701
14 bowing of the long bones HP:0006487

Drugs & Therapeutics for Metachondromatosis

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Drug clinical trials:

Search ClinicalTrials for Metachondromatosis

Search NIH Clinical Center for Metachondromatosis

Genetic Tests for Metachondromatosis

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Genetic tests related to Metachondromatosis:

id Genetic test Affiliating Genes
1 Metachondromatosis20 22 PTPN11

Anatomical Context for Metachondromatosis

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MalaCards organs/tissues related to Metachondromatosis:

32
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 21)
idTitleAuthorsYear
1
Metachondromatosis: more than just multiple osteochondromas. (24432109)
2013
2
From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis. (25003010)
2013
3
Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusions. (23929766)
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. (6602353)
1983
19
Metachondromatosis. (6980764)
1982
20
Metachondromatosis: report of a case in a 6 year old boy. (1137528)
1975
21
Metachondromatosis. (4547387)
1974

Variations for Metachondromatosis

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Clinvar genetic disease variations for Metachondromatosis:

6 (show all 12)
id Gene Name 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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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

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Compounds for genes affiliated with Metachondromatosis

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GO Terms for genes affiliated with Metachondromatosis

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Products for genes affiliated with Metachondromatosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Metachondromatosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet