MCID: MTC018
MIFTS: 33

Metachondromatosis malady

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

Aliases & Classifications for Metachondromatosis

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Metachondromatosis:

Name: Metachondromatosis 49 11 45 22 51 67 24 65
Metcds 45
 
Mc 67

Characteristics:

Orphanet epidemiological data:

51
metachondromatosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

61
metachondromatosis:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 156250
Orphanet51 2499
ICD10 via Orphanet28 Q78.4
UMLS via Orphanet66 C0410530
MedGen34 C0410530
MeSH36 D018210
UMLS65 C0410530

Summaries for Metachondromatosis

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NIH Rare Diseases:45 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 myelodysplastic syndrome, and has symptoms including exostoses, aseptic necrosis and cranial nerve paralysis. An important gene associated with Metachondromatosis is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11). Affiliated tissues include bone, eye and spinal cord.

UniProtKB/Swiss-Prot:67 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:68 Metachondromatosis is an autosomal dominantincompletely penetrantskeletal disorder affecting the growth... more...

Description from OMIM:49 156250

Related Diseases for Metachondromatosis

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

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1exostoses, multiple, type 110.4
2myelodysplastic syndrome10.2
3caffey disease10.2
4acute leukemia10.2
5chronic granulomatous disease10.2
6leukemia10.2
7paroxysmal nocturnal hemoglobinuria10.2
8sleep apnea10.2
9paronychia10.2
10melanoma10.2
11thrombocytosis10.2
12epidermolysis bullosa10.2
13hemoglobinopathy10.2
14epidermolysis bullosa acquisita10.2
15hemoglobinuria10.2
16hypotonia10.2
17osteoporotic fracture10.2

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:

 51 (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 13)
id Description Frequency HPO Source Accession
1 exostoses hallmark (90%) HP:0100777
2 aseptic necrosis hallmark (90%) HP:0010885
3 cranial nerve paralysis hallmark (90%) HP:0006824
4 abnormality of epiphysis morphology hallmark (90%) HP:0005930
5 multiple enchondromatosis hallmark (90%) HP:0005701
6 bone pain hallmark (90%) HP:0002653
7 abnormality of pelvic girdle bone morphology hallmark (90%) HP:0002644
8 abnormality of the metaphyses hallmark (90%) HP:0000944
9 chondrocalcinosis hallmark (90%) HP:0000934
10 bowing of the long bones HP:0006487
11 multiple enchondromatosis HP:0005701
12 multiple digital exostoses HP:0005655
13 abnormal joint morphology HP:0001367

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 Metachondromatosis22 PTPN11

Anatomical Context for Metachondromatosis

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MalaCards organs/tissues related to Metachondromatosis:

33
Bone, Eye, Spinal cord, Lung

Animal Models for Metachondromatosis or affiliated genes

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Publications for Metachondromatosis

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Articles related to Metachondromatosis:

(show all 23)
idTitleAuthorsYear
1
Mass vaccination with a two-dose oral cholera vaccine in a long-standing refugee camp, Thailand. (26549363)
2015
2
Alarmin function of galectin-9 in murine respiratory tularemia. (25898318)
2015
3
New treatment strategies to eradicate cancer stem cells and niches in glioblastoma. (24140771)
2013
4
Rapid screening for perceived cognitive impairment in major depressive disorder. (23638444)
2013
5
Prevention of burns in developing countries. (23766751)
2012
6
Autogenous osteochondral graft transplantation for steroid-induced osteonecrosis of the femoral condyle: A report of three young patients. (22537556)
2012
7
Osteopontin as a potential biomarker of proliferation and invasiveness for lung cancer. (21207061)
2011
8
The use of superoxidized aqueous solution versus saline as a replacement solution in the versajet lavage system in chronic diabetic foot ulcers: a pilot study. (21406695)
2011
9
Acute nonimmune hemolytic anemia without fulminant hepatitis in Wilson disease. (21516016)
2011
10
Amlodipine, a Ca2+ channel blocker, suppresses phosphorylation of epidermal growth factor receptor in human epidermoid carcinoma A431 cells. (19951711)
2010
11
Outcomes of treatment with immunomodulatory therapy in patients with corticosteroid-resistant juvenile idiopathic arthritis-associated chronic iridocyclitis. (16419420)
2005
12
Host defense effector molecules in mucosal secretions. (16051067)
2005
13
Estrogen receptor positivity in mammary tumors of Wnt-1 transgenic mice is influenced by collaborating oncogenic mutations. (15824740)
2005
14
Risk factors for cryptogenic ischaemic stroke. (12453078)
2002
15
Short term toxicity profile for 32 sinonasal cancer patients treated with IMRT. Can we avoid dry eye syndrome? (12242131)
2002
16
Acute pediatric lead poisoning: combined whole bowel irrigation, succimer therapy, and endoscopic removal of ingested lead pellets. (12066009)
2002
17
Molecular evolution of adrenarche: structural and functional analysis of p450c17 from four primate species. (12446594)
2002
18
SPINK1 mutations in chronic pancreatitis. (11265668)
2001
19
A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. (9843983)
1998
20
Synovial effusion in reflex sympathetic dystrophy: an additional sign for diagnosis and staging. (9638836)
1998
21
Ceruletide therapy in action tremor following thalamic hemorrhage. (8482985)
1993
22
Meningovascular syphilis of the spinal cord presenting with incomplete Brown-SAcquard syndrome: case report. (2759607)
1989
23

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, 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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet