MCID: MTC018
MIFTS: 28

Metachondromatosis

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

Aliases & Classifications for Metachondromatosis

MalaCards integrated aliases for Metachondromatosis:

Name: Metachondromatosis 53 72 49 55 71 36 28 13 69
Metcds 53 49
Mc 71

Characteristics:

Orphanet epidemiological data:

55
metachondromatosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
metachondromatosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 156250
Orphanet 55 ORPHA2499
UMLS via Orphanet 70 C0410530
ICD10 via Orphanet 33 Q78.4
MedGen 39 C0410530
MeSH 41 D018210
KEGG 36 H01018
UMLS 69 C0410530

Summaries for Metachondromatosis

NIH Rare Diseases : 49 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 i and chondrosarcoma, and has symptoms including bone pain, abnormality of epiphysis morphology and aseptic necrosis. An important gene associated with Metachondromatosis is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways/superpathways are Jak-STAT signaling pathway and Natural killer cell mediated cytotoxicity. Affiliated tissues include bone.

UniProtKB/Swiss-Prot : 71 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 : 72 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 exostoses, multiple, type i 11.0
2 chondrosarcoma 10.0
3 trichorhinophalangeal syndrome 10.0
4 osteochondroma 10.0
5 dysplasia epiphysealis hemimelica 9.8
6 trichorhinophalangeal syndrome, type ii 9.8
7 enchondromatosis, multiple, ollier type 9.8
8 otofaciocervical syndrome 1 9.8
9 avascular necrosis of femoral head, primary, 1 9.8
10 multiple enchondromatosis, maffucci type 9.8
11 enchondroma 9.8

Graphical network of the top 20 diseases related to Metachondromatosis:



Diseases related to Metachondromatosis

Symptoms & Phenotypes for Metachondromatosis

Symptoms via clinical synopsis from OMIM:

53
Skel:
multiple enchondromatosis
multiple exostoses, esp. digits

Misc:
exostoses point toward nearby joint
exostoses may resolve spontaneously
no shortening or bowing of long bones

Joints:
no joint deformity, or subluxation

Radiology:
striations in metaphyses of long bones and iliac crests


Clinical features from OMIM:

156250

Human phenotypes related to Metachondromatosis:

55 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bone pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002653
2 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
3 aseptic necrosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0010885
4 cranial nerve paralysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0006824
5 exostoses 55 31 hallmark (90%) Very frequent (99-80%) HP:0100777
6 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
7 multiple enchondromatosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0005701
8 bowing of the long bones 31 HP:0006487
9 abnormal joint morphology 31 HP:0001367
10 multiple digital exostoses 31 HP:0005655

Drugs & Therapeutics for Metachondromatosis

Search Clinical Trials , NIH Clinical Center for Metachondromatosis

Genetic Tests for Metachondromatosis

Genetic tests related to Metachondromatosis:

# Genetic test Affiliating Genes
1 Metachondromatosis 28 PTPN11

Anatomical Context for Metachondromatosis

MalaCards organs/tissues related to Metachondromatosis:

38
Bone

Publications for Metachondromatosis

Articles related to Metachondromatosis:

(show all 27)
# Title Authors Year
1
Chondrosarcoma in Metachondromatosis: A Rare Case Report. ( 29373887 )
2017
2
Metachondromatosis without Enchondromas: A Case Report and Review of the Literature. ( 29252664 )
2016
3
Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders. ( 27240490 )
2016
4
Exostoses, enchondromatosis and metachondromatosis; diagnosis and management. ( 26984661 )
2016
5
From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis. ( 25003010 )
2013
6
Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusions. ( 23929766 )
2013
7
Metachondromatosis: more than just multiple osteochondromas. ( 24432109 )
2013
8
Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling. ( 23863940 )
2013
9
EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis. ( 21892728 )
2012
10
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. ( 21533187 )
2011
11
Chondrosarcoma in metachondromatosis: a case report. ( 20516327 )
2010
12
Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis. ( 17688470 )
2007
13
EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis. ( 16622899 )
2006
14
Pathological fractures; a consideration with metachondromatosis and differential diagnoses. Osteochondromatosis and Gauchers disease. ( 17987186 )
2002
15
Erratum: metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome (Pediatr radiol (1997) 27: 436-441) ( 9361046 )
1997
16
Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864. ( 9133359 )
1997
17
Metachondromatosis. ( 8577506 )
1995
18
Metachondromatosis. ( 7538882 )
1995
19
Metachondromatosis: a report of two cases in a family. ( 1506743 )
1992
20
Metachondromatosis and avascular necrosis of the femoral head: a radiographic and histologic correlation. ( 2056076 )
1991
21
Avascular necrosis of the capital femoral epiphysis in metachondromatosis. ( 2394820 )
1990
22
Roentgen rounds #89. Metachondromatosis. ( 3502612 )
1987
23
Metachondromatosis. Report of four cases. ( 3873457 )
1985
24
Metachondromatosis. ( 6602353 )
1983
25
Metachondromatosis. ( 6980764 )
1982
26
Metachondromatosis: report of a case in a 6 year old boy. ( 1137528 )
1975
27
Metachondromatosis. ( 4547387 )
1974

Variations for Metachondromatosis

ClinVar genetic disease variations for Metachondromatosis:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh37 Chromosome 12, 112888199: 112888199
2 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh37 Chromosome 12, 112915523: 112915523
3 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh37 Chromosome 12, 112915524: 112915524
4 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
5 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh37 Chromosome 12, 112888172: 112888172
6 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh37 Chromosome 12, 112888202: 112888202
7 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh37 Chromosome 12, 112888220: 112888220
8 PTPN11 PTPN11, 11-BP DEL, NT514 deletion Pathogenic
9 PTPN11 NM_002834.4(PTPN11): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs267606989 GRCh37 Chromosome 12, 112891078: 112891078
10 PTPN11 NM_002834.4(PTPN11): c.409_413delGTACG (p.Val137Argfs) deletion Pathogenic rs398122857 GRCh37 Chromosome 12, 112891075: 112891079
11 PTPN11 NM_002834.4(PTPN11) indel Pathogenic rs398122858 GRCh37 Chromosome 12, 112891124: 112891134
12 PTPN11 NM_002834.4(PTPN11): c.353_354delCT (p.Ser118Trpfs) deletion Pathogenic rs398122859 GRCh37 Chromosome 12, 112891019: 112891020
13 PTPN11 NM_002834.4(PTPN11): c.1516C> T (p.Gln506Ter) single nucleotide variant Pathogenic rs387907157 GRCh37 Chromosome 12, 112926896: 112926896
14 PTPN11 NM_002834.4(PTPN11): c.1315delC (p.Leu439Trpfs) deletion Pathogenic rs398122860 GRCh37 Chromosome 12, 112924369: 112924369
15 PTPN11 NM_002834.4(PTPN11): c.643-2A> C single nucleotide variant Pathogenic rs398122861 GRCh37 Chromosome 12, 112893752: 112893752
16 PTPN11 NM_002834.4(PTPN11): c.295A> T (p.Lys99Ter) single nucleotide variant Pathogenic rs387907158 GRCh37 Chromosome 12, 112888279: 112888279
17 PTPN11 NM_002834.4(PTPN11): c.1093-1G> T single nucleotide variant Pathogenic rs398122862 GRCh37 Chromosome 12, 112919877: 112919877
18 PTPN11 NG_007459.1: g.45924_60608delinsCA indel Pathogenic GRCh37 Chromosome 12, 112897459: 112912143
19 PTPN11 NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507506 GRCh37 Chromosome 12, 112888158: 112888158
20 PTPN11 NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp) single nucleotide variant Pathogenic rs397507520 GRCh37 Chromosome 12, 112891083: 112891083
21 PTPN11 NM_002834.4(PTPN11): c.1507G> C (p.Gly503Arg) single nucleotide variant Pathogenic rs397507545 GRCh37 Chromosome 12, 112926887: 112926887
22 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

Pathways related to Metachondromatosis according to KEGG:

36
# Name Kegg Source Accession
1 Jak-STAT signaling pathway hsa04630
2 Natural killer cell mediated cytotoxicity hsa04650
3 Leukocyte transendothelial migration hsa04670
4 Neurotrophin signaling pathway hsa04722
5 Adipocytokine signaling pathway hsa04920

GO Terms for Metachondromatosis

Sources for Metachondromatosis

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