MCID: MTC018
MIFTS: 27

Metachondromatosis malady

Bone, Fetal categories

Summaries for Metachondromatosis

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 osteochondroma and ollier disease, and has symptoms including epiphyseal anomaly, autosomal dominant inheritance and pelvis anomaly/narrow/broad iliac wings/pubis abnormality. An important gene associated with Metachondromatosis is PTPN11 (protein tyrosine phosphatase, non-receptor type 11).

Wikipedia:64 Metachondromatosis is an autosomal dominantincompletely penetrantskeletal disorder affecting the growth... more...

Description from OMIM:47 156250

Aliases & Classifications for Metachondromatosis

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

49
metachondromatosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

metachondromatosis 43 20 22 47 49 61
metcds 43


External Ids:

OMIM47 156250
ICD10 via Orphanet26 Q78.4
SNOMED-CT via Orphanet58 205481009
UMLS via Orphanet62 C0410530

Related Diseases for Metachondromatosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1osteochondroma10.2
2ollier disease10.2
3hereditary multiple osteochondromas10.0
4dysplasia epiphysealis hemimelica10.0
5exostoses, multiple, type 110.0

Graphical network of diseases related to Metachondromatosis:



Diseases related to metachondromatosis

Clinical Features for Metachondromatosis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

156250

Clinical synopsis from OMIM:

156250

Symptoms:

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

Drugs & Therapeutics for Metachondromatosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Metachondromatosis:

id Genetic test Affiliating Genes
1 Metachondromatosis20 22 PTPN11

Anatomical Context for Metachondromatosis

Animal Models for Metachondromatosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Metachondromatosis

Sources:
51PubMed
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

Genetic Variations for Metachondromatosis

Expression for genes affiliated with Metachondromatosis

Sources:
1BioGPS, 15Gene 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

Compounds for genes affiliated with Metachondromatosis

GO Terms for genes affiliated with Metachondromatosis

Products for genes affiliated with Metachondromatosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Metachondromatosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet