MCID: MTC018
MIFTS: 30

Metachondromatosis

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

Aliases & Classifications for Metachondromatosis

MalaCards integrated aliases for Metachondromatosis:

Name: Metachondromatosis 57 76 53 59 75 37 29 13 6 40 73
Metcds 57 53
Mc 75

Characteristics:

Orphanet epidemiological data:

59
metachondromatosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
metachondromatosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 156250
Orphanet 59 ORPHA2499
UMLS via Orphanet 74 C0410530
ICD10 via Orphanet 34 Q78.4
MedGen 42 C0410530
MeSH 44 D018210
KEGG 37 H01018
UMLS 73 C0410530

Summaries for Metachondromatosis

NIH Rare Diseases : 53 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.

MalaCards based summary : Metachondromatosis, also known as metcds, is related to exostoses, multiple, type i and chondrosarcoma. 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, and related phenotypes are abnormality of the metaphysis and bone pain

UniProtKB/Swiss-Prot : 75 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 : 76 Metachondromatosis is an autosomal dominantincompletely penetrantskeletal disorder affecting the growth... more...

Description from OMIM: 156250

Related Diseases for Metachondromatosis

Graphical network of the top 20 diseases related to Metachondromatosis:



Diseases related to Metachondromatosis

Symptoms & Phenotypes for Metachondromatosis

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
2 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
3 multiple enchondromatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005701
4 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
5 cranial nerve paralysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0006824
6 aseptic necrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010885
7 exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0100777
8 abnormal joint morphology 32 HP:0001367
9 multiple digital exostoses 32 HP:0005655
10 bowing of the long bones 32 HP:0006487

GenomeRNAi Phenotypes related to Metachondromatosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.62 PTPN11 RPL6

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 29 PTPN11

Anatomical Context for Metachondromatosis

MalaCards organs/tissues related to Metachondromatosis:

41
Bone

Publications for Metachondromatosis

Articles related to Metachondromatosis:

(show all 28)
# Title Authors Year
1
Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report. ( 29703018 )
2018
2
Chondrosarcoma in Metachondromatosis: A Rare Case Report. ( 29373887 )
2017
3
Metachondromatosis without Enchondromas: A Case Report and Review of the Literature. ( 29252664 )
2016
4
Exostoses, enchondromatosis and metachondromatosis; diagnosis and management. ( 26984661 )
2016
5
Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders. ( 27240490 )
2016
6
Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling. ( 23863940 )
2013
7
Metachondromatosis: more than just multiple osteochondromas. ( 24432109 )
2013
8
Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusions. ( 23929766 )
2013
9
From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis. ( 25003010 )
2013
10
EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis. ( 21892728 )
2012
11
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. ( 21533187 )
2011
12
Chondrosarcoma in metachondromatosis: a case report. ( 20516327 )
2010
13
Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis. ( 17688470 )
2007
14
EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis. ( 16622899 )
2006
15
Pathological fractures; a consideration with metachondromatosis and differential diagnoses. Osteochondromatosis and Gauchers disease. ( 17987186 )
2002
16
Erratum: metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome (Pediatr radiol (1997) 27: 436-441) ( 9361046 )
1997
17
Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864. ( 9133359 )
1997
18
Metachondromatosis. ( 7538882 )
1995
19
Metachondromatosis. ( 8577506 )
1995
20
Metachondromatosis: a report of two cases in a family. ( 1506743 )
1992
21
Metachondromatosis and avascular necrosis of the femoral head: a radiographic and histologic correlation. ( 2056076 )
1991
22
Avascular necrosis of the capital femoral epiphysis in metachondromatosis. ( 2394820 )
1990
23
Roentgen rounds #89. Metachondromatosis. ( 3502612 )
1987
24
Metachondromatosis. Report of four cases. ( 3873457 )
1985
25
Metachondromatosis. ( 6602353 )
1983
26
Metachondromatosis. ( 6980764 )
1982
27
Metachondromatosis: report of a case in a 6 year old boy. ( 1137528 )
1975
28
Metachondromatosis. ( 4547387 )
1974

Variations for Metachondromatosis

ClinVar genetic disease variations for Metachondromatosis:

6
(show top 50) (show all 145)
# 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.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh38 Chromosome 12, 112450395: 112450395
3 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh37 Chromosome 12, 112915523: 112915523
4 PTPN11 NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp) single nucleotide variant Pathogenic rs28933386 GRCh38 Chromosome 12, 112477719: 112477719
5 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh37 Chromosome 12, 112915524: 112915524
6 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh38 Chromosome 12, 112477720: 112477720
7 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh37 Chromosome 12, 112926270: 112926270
8 PTPN11 NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met) single nucleotide variant Pathogenic rs121918457 GRCh38 Chromosome 12, 112488466: 112488466
9 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh37 Chromosome 12, 112888172: 112888172
10 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh38 Chromosome 12, 112450368: 112450368
11 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh37 Chromosome 12, 112888202: 112888202
12 PTPN11 NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile) single nucleotide variant Pathogenic rs121918462 GRCh38 Chromosome 12, 112450398: 112450398
13 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh37 Chromosome 12, 112888220: 112888220
14 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh38 Chromosome 12, 112450416: 112450416
15 PTPN11 PTPN11, 11-BP DEL, NT514 deletion Pathogenic
16 PTPN11 NM_002834.4(PTPN11): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs267606989 GRCh37 Chromosome 12, 112891078: 112891078
17 PTPN11 NM_002834.4(PTPN11): c.412C> T (p.Arg138Ter) single nucleotide variant Pathogenic rs267606989 GRCh38 Chromosome 12, 112453274: 112453274
18 PTPN11 NM_002834.4(PTPN11): c.643-2A> C single nucleotide variant Pathogenic rs398122861 GRCh38 Chromosome 12, 112455948: 112455948
19 PTPN11 NM_002834.4(PTPN11): c.409_413delGTACG (p.Val137Argfs) deletion Pathogenic rs398122857 GRCh37 Chromosome 12, 112891075: 112891079
20 PTPN11 NM_002834.4(PTPN11): c.409_413delGTACG (p.Val137Argfs) deletion Pathogenic rs398122857 GRCh38 Chromosome 12, 112453271: 112453275
21 PTPN11 NM_002834.4(PTPN11) indel Pathogenic rs398122858 GRCh37 Chromosome 12, 112891124: 112891134
22 PTPN11 NM_002834.4(PTPN11) indel Pathogenic rs398122858 GRCh38 Chromosome 12, 112453320: 112453330
23 PTPN11 NM_002834.4(PTPN11): c.353_354delCT (p.Ser118Trpfs) deletion Pathogenic rs398122859 GRCh37 Chromosome 12, 112891019: 112891020
24 PTPN11 NM_002834.4(PTPN11): c.353_354delCT (p.Ser118Trpfs) deletion Pathogenic rs398122859 GRCh38 Chromosome 12, 112453215: 112453216
25 PTPN11 NM_002834.4(PTPN11): c.1516C> T (p.Gln506Ter) single nucleotide variant Pathogenic rs387907157 GRCh37 Chromosome 12, 112926896: 112926896
26 PTPN11 NM_002834.4(PTPN11): c.1516C> T (p.Gln506Ter) single nucleotide variant Pathogenic rs387907157 GRCh38 Chromosome 12, 112489092: 112489092
27 PTPN11 NM_002834.4(PTPN11): c.1315delC (p.Leu439Trpfs) deletion Pathogenic rs398122860 GRCh37 Chromosome 12, 112924369: 112924369
28 PTPN11 NM_002834.4(PTPN11): c.1315delC (p.Leu439Trpfs) deletion Pathogenic rs398122860 GRCh38 Chromosome 12, 112486565: 112486565
29 PTPN11 NM_002834.4(PTPN11): c.643-2A> C single nucleotide variant Pathogenic rs398122861 GRCh37 Chromosome 12, 112893752: 112893752
30 PTPN11 NM_002834.4(PTPN11): c.295A> T (p.Lys99Ter) single nucleotide variant Pathogenic rs387907158 GRCh37 Chromosome 12, 112888279: 112888279
31 PTPN11 NM_002834.4(PTPN11): c.295A> T (p.Lys99Ter) single nucleotide variant Pathogenic rs387907158 GRCh38 Chromosome 12, 112450475: 112450475
32 PTPN11 NM_002834.4(PTPN11): c.1093-1G> T single nucleotide variant Pathogenic rs398122862 GRCh37 Chromosome 12, 112919877: 112919877
33 PTPN11 NM_002834.4(PTPN11): c.1093-1G> T single nucleotide variant Pathogenic rs398122862 GRCh38 Chromosome 12, 112482073: 112482073
34 PTPN11 NG_007459.1: g.45924_60608delinsCA indel Pathogenic GRCh37 Chromosome 12, 112897459: 112912143
35 PTPN11 NG_007459.1: g.45924_60608delinsCA indel Pathogenic GRCh38 Chromosome 12, 112459655: 112474339
36 PTPN11 NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507506 GRCh37 Chromosome 12, 112888158: 112888158
37 PTPN11 NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507506 GRCh38 Chromosome 12, 112450354: 112450354
38 PTPN11 NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp) single nucleotide variant Pathogenic rs397507520 GRCh37 Chromosome 12, 112891083: 112891083
39 PTPN11 NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp) single nucleotide variant Pathogenic rs397507520 GRCh38 Chromosome 12, 112453279: 112453279
40 PTPN11 NM_002834.4(PTPN11): c.1507G> C (p.Gly503Arg) single nucleotide variant Pathogenic rs397507545 GRCh37 Chromosome 12, 112926887: 112926887
41 PTPN11 NM_002834.4(PTPN11): c.1507G> C (p.Gly503Arg) single nucleotide variant Pathogenic rs397507545 GRCh38 Chromosome 12, 112489083: 112489083
42 PTPN11 NM_002834.4(PTPN11): c.661delA (p.Ile221Terfs) deletion Pathogenic rs397516807 GRCh37 Chromosome 12, 112893772: 112893772
43 PTPN11 NM_002834.4(PTPN11): c.661delA (p.Ile221Terfs) deletion Pathogenic rs397516807 GRCh38 Chromosome 12, 112455968: 112455968
44 PTPN11 NM_002834.4(PTPN11): c.1682C> T (p.Pro561Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141140214 GRCh37 Chromosome 12, 112940030: 112940030
45 PTPN11 NM_002834.4(PTPN11): c.1682C> T (p.Pro561Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141140214 GRCh38 Chromosome 12, 112502226: 112502226
46 PTPN11 NM_002834.4(PTPN11): c.-273G> A single nucleotide variant Likely benign rs58805176 GRCh37 Chromosome 12, 112856643: 112856643
47 PTPN11 NM_002834.4(PTPN11): c.-273G> A single nucleotide variant Likely benign rs58805176 GRCh38 Chromosome 12, 112418839: 112418839
48 PTPN11 NM_002834.4(PTPN11): c.-139G> A single nucleotide variant Uncertain significance rs886048964 GRCh38 Chromosome 12, 112418973: 112418973
49 PTPN11 NM_002834.4(PTPN11): c.-139G> A single nucleotide variant Uncertain significance rs886048964 GRCh37 Chromosome 12, 112856777: 112856777
50 PTPN11 NM_002834.4(PTPN11): c.*41_*46delTTTCAC deletion Conflicting interpretations of pathogenicity rs886048967 GRCh38 Chromosome 12, 112505833: 112505838

Expression for Metachondromatosis

Search GEO for disease gene expression data for Metachondromatosis.

Pathways for Metachondromatosis

Pathways related to Metachondromatosis according to KEGG:

37
# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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