MCID: MTC018
MIFTS: 26

Metachondromatosis malady

Bone diseases, Fetal diseases categories

Summaries for Metachondromatosis

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Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Metachondromatosis, also known as metcds, is related to ollier disease and trichorhinophalangeal syndrome type ii, and has symptoms including autosomal dominant inheritance, periarticular tissue anomaly/extraarticular calcifications and epiphyseal anomaly. An important gene associated with Metachondromatosis is PTPN11 (protein tyrosine phosphatase, non-receptor type 11). Affiliated tissues include bone.

Wikipedia:63 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, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: 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


Aliases & Descriptions:

metachondromatosis 42 20 22 46 48 60
metcds 42


External Ids:

OMIM46 156250
ICD10 via Orphanet26 Q78.4
SNOMED-CT via Orphanet57 205481009
UMLS via Orphanet61 C0410530

Related Diseases for Metachondromatosis

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17GeneCards, 18GeneDecks
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Diseases related to Metachondromatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ollier disease10.1
2trichorhinophalangeal syndrome type ii10.0
3chondrosarcoma10.0
4hereditary multiple osteochondromas10.0
5exostoses, multiple, type 110.0

Graphical network of diseases related to Metachondromatosis:



Diseases related to metachondromatosis

Clinical Features for Metachondromatosis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

156250

Clinical synopsis from OMIM:

156250

Symptoms:

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

Drugs & Therapeutics for Metachondromatosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Sources:
20GeneTests, 22GTR
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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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32MalaCards
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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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Genetic Variations for Metachondromatosis

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Expression for genes affiliated with Metachondromatosis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet