MC
MCID: MTC018
MIFTS: 28

Metachondromatosis (MC) malady

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

Aliases & Classifications for Metachondromatosis

Aliases & Descriptions for Metachondromatosis:

Name: Metachondromatosis 54 50 24 56 66 29 13 69
Metcds 50
Mc 66

Characteristics:

Orphanet epidemiological data:

56
metachondromatosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

HPO:

32
metachondromatosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 156250
Orphanet 56 ORPHA2499
UMLS via Orphanet 70 C0410530
ICD10 via Orphanet 34 Q78.4
MedGen 40 C0410530
MeSH 42 D018210

Summaries for Metachondromatosis

NIH Rare Diseases : 50 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 multiple enchondromatosis, maffucci type and enchondromatosis, multiple, ollier type, and has symptoms including bowing of the long bones, multiple enchondromatosis and abnormal joint morphology. An important gene associated with Metachondromatosis is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11). Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 66 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 : 71 Metachondromatosis is an autosomal dominantincompletely penetrantskeletal disorder affecting the growth... more...

Description from OMIM: 156250

Related Diseases for Metachondromatosis

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

id Related Disease Score Top Affiliating Genes
1 multiple enchondromatosis, maffucci type 10.8
2 enchondromatosis, multiple, ollier type 10.8
3 exostoses, multiple, type 1 10.8
4 trichorhinophalangeal syndrome 9.9
5 osteochondroma 9.9
6 avascular necrosis of the femoral head 9.7
7 dysplasia epiphysealis hemimelica 9.7
8 otofaciocervical syndrome 9.7
9 chondrosarcoma 9.7
10 trichorhinophalangeal syndrome, type ii 9.7

Graphical network of the top 20 diseases related to Metachondromatosis:



Diseases related to Metachondromatosis

Symptoms & Phenotypes for Metachondromatosis

Symptoms by clinical synopsis from OMIM:

156250

Clinical features from OMIM:

156250

Human phenotypes related to Metachondromatosis:

32
id Description HPO Frequency HPO Source Accession
1 bowing of the long bones 32 HP:0006487
2 multiple enchondromatosis 32 HP:0005701
3 abnormal joint morphology 32 HP:0001367
4 multiple digital exostoses 32 HP:0005655

Drugs & Therapeutics for Metachondromatosis

Search Clinical Trials , NIH Clinical Center for Metachondromatosis

Genetic Tests for Metachondromatosis

Genetic tests related to Metachondromatosis:

id Genetic test Affiliating Genes
1 Metachondromatosis 29 24 PTPN11

Anatomical Context for Metachondromatosis

MalaCards organs/tissues related to Metachondromatosis:

39
Bone

Publications for Metachondromatosis

Articles related to Metachondromatosis:

(show all 25)
id Title Authors Year
1
Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders. ( 27240490 )
2016
2
Exostoses, enchondromatosis and metachondromatosis; diagnosis and management. ( 26984661 )
2016
3
From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis. ( 25003010 )
2013
4
Metachondromatosis: more than just multiple osteochondromas. ( 24432109 )
2013
5
Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusions. ( 23929766 )
2013
6
Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling. ( 23863940 )
2013
7
EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis. ( 21892728 )
2012
8
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. ( 21533187 )
2011
9
Chondrosarcoma in metachondromatosis: a case report. ( 20516327 )
2010
10
Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis. ( 17688470 )
2007
11
EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis. ( 16622899 )
2006
12
Pathological fractures; a consideration with metachondromatosis and differential diagnoses. Osteochondromatosis and Gauchers disease. ( 17987186 )
2002
13
Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864. ( 9133359 )
1997
14
Erratum: metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome (Pediatr radiol (1997) 27: 436-441) ( 9361046 )
1997
15
Metachondromatosis. ( 8577506 )
1995
16
Metachondromatosis. ( 7538882 )
1995
17
Metachondromatosis: a report of two cases in a family. ( 1506743 )
1992
18
Metachondromatosis and avascular necrosis of the femoral head: a radiographic and histologic correlation. ( 2056076 )
1991
19
Avascular necrosis of the capital femoral epiphysis in metachondromatosis. ( 2394820 )
1990
20
Roentgen rounds #89. Metachondromatosis. ( 3502612 )
1987
21
Metachondromatosis. Report of four cases. ( 3873457 )
1985
22
Metachondromatosis. ( 6602353 )
1983
23
Metachondromatosis. ( 6980764 )
1982
24
Metachondromatosis: report of a case in a 6 year old boy. ( 1137528 )
1975
25
Metachondromatosis. ( 4547387 )
1974

Variations for Metachondromatosis

ClinVar genetic disease variations for Metachondromatosis:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 PTPN11 PTPN11, 11-BP DEL, NT514 deletion Pathogenic
2 PTPN11 NM_002834.4(PTPN11): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs267606989 GRCh37 Chromosome 12, 112891078: 112891078
3 PTPN11 NM_002834.4(PTPN11): c.409_413delGTACG (p.Val137Argfs) deletion Pathogenic rs398122857 GRCh37 Chromosome 12, 112891075: 112891079
4 PTPN11 NM_002834.4(PTPN11) indel Pathogenic GRCh37 Chromosome 12, 112891124: 112891134
5 PTPN11 NM_002834.4(PTPN11): c.353_354delCT (p.Ser118Trpfs) deletion Pathogenic rs398122859 GRCh37 Chromosome 12, 112891019: 112891020
6 PTPN11 NM_002834.4(PTPN11): c.1516C> T (p.Gln506Ter) single nucleotide variant Pathogenic rs387907157 GRCh37 Chromosome 12, 112926896: 112926896
7 PTPN11 NM_002834.4(PTPN11): c.1315delC (p.Leu439Trpfs) deletion Pathogenic rs398122860 GRCh37 Chromosome 12, 112924369: 112924369
8 PTPN11 NM_002834.4(PTPN11): c.643-2A> C single nucleotide variant Pathogenic rs398122861 GRCh37 Chromosome 12, 112893752: 112893752
9 PTPN11 NM_002834.4(PTPN11): c.295A> T (p.Lys99Ter) single nucleotide variant Pathogenic rs387907158 GRCh37 Chromosome 12, 112888279: 112888279
10 PTPN11 NM_002834.4(PTPN11): c.1093-1G> T single nucleotide variant Pathogenic rs398122862 GRCh37 Chromosome 12, 112919877: 112919877
11 PTPN11 NG_007459.1: g.45924_60608delinsCA indel Pathogenic GRCh37 Chromosome 12, 112897459: 112912143
12 PTPN11 NM_002834.4(PTPN11): c.661delA (p.Ile221Terfs) deletion Pathogenic rs397516807 GRCh37 Chromosome 12, 112893772: 112893772

Expression for Metachondromatosis

Search GEO for disease gene expression data for Metachondromatosis.

Pathways for Metachondromatosis

GO Terms for Metachondromatosis

Sources for Metachondromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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