Metachondromatosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MC MCID: MTC018 MIFTS: 33	Metachondromatosis (MC) Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Enchondromatosis

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

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

SNOMED-CT via HPO ⁶⁹ 263681008 399269003 12584003 more

UMLS ⁷³ C0410530

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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 primary biliary cirrhosis and systemic scleroderma. 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 epiphysis morphology and aseptic necrosis

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

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Related Diseases for Metachondromatosis

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

(show all 19)

#	Related Disease	Score	Top Affiliating Genes
1	primary biliary cirrhosis	125.6	LBR CENPB
2	systemic scleroderma	125.6	TOP1 CENPB
3	autoimmune disease of musculoskeletal system	125.6	CENPB TOP1
4	autoimmune disease of urogenital tract	125.6	CENPB LBR
5	crest syndrome	125.6	AGBL3 CENPB CSF2RA LBR SOX10 TOP1
6	rheumatic disease	125.6	TOP1 CENPB
7	limited scleroderma	125.6	CENPB TOP1 UBTF
8	connective tissue disease	125.6	TOP1 CENPB
9	collagen disease	125.6	CENPB TOP1
10	dyskinesia of esophagus	125.6	CENPB TOP1 UBTF
11	exostoses, multiple, type i	11.1
12	chondrosarcoma	10.1
13	trichorhinophalangeal syndrome	10.1
14	dysplasia epiphysealis hemimelica	10.0
15	trichorhinophalangeal syndrome, type ii	10.0
16	enchondromatosis, multiple, ollier type	10.0
17	otofaciocervical syndrome 1	10.0
18	avascular necrosis of femoral head, primary, 1	10.0
19	multiple enchondromatosis, maffucci type	10.0

Graphical network of the top 20 diseases related to Metachondromatosis:

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

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Drugs & Therapeutics for Metachondromatosis

Search Clinical Trials , NIH Clinical Center for Metachondromatosis

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Genetic Tests for Metachondromatosis

Genetic tests related to Metachondromatosis:

#	Genetic test	Affiliating Genes
1	Metachondromatosis ²⁹	PTPN11

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Anatomical Context for Metachondromatosis

MalaCards organs/tissues related to Metachondromatosis:

⁴¹

Bone

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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 )	Wang Z....Chen Y.	2018
2	Chondrosarcoma in Metachondromatosis: A Rare Case Report. ( 29373887 )	Jamshidi K....Bahrabadi M.	2017
3	Metachondromatosis without Enchondromas: A Case Report and Review of the Literature. ( 29252664 )	Kanaya K....Yamashita T.	2016
4	Exostoses, enchondromatosis and metachondromatosis; diagnosis and management. ( 26984661 )	McFarlane J....Freeman R.	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 )	Yang W....Neel B.G.	2013
7	Metachondromatosis: more than just multiple osteochondromas. ( 24432109 )	Fisher T.J....Cundy P.J.	2013
8	Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusions. ( 23929766 )	Kim H.K....Kamiya N.	2013
9	From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis. ( 25003010 )	Yang W....Neel B.G.	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 )	Mavrogenis A.F....Papagelopoulos P.J.	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 )	Herman T.E....Whyte M.P.	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 )	Hunter A.G....Hochberger O.	1995
19	Metachondromatosis. ( 8577506 )	Wittram C....Carty H.	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 )	Wenger D.R....Billman G.	1991
22	Avascular necrosis of the capital femoral epiphysis in metachondromatosis. ( 2394820 )		1990
23	Roentgen rounds #89. Metachondromatosis. ( 3502612 )	McAlister W.H....Gilula L.A.	1987
24	Metachondromatosis. Report of four cases. ( 3873457 )	Bassett G.S....Cowell H.R.	1985
25	Metachondromatosis. ( 6602353 )	Kennedy L.A.	1983
26	Metachondromatosis. ( 6980764 )	Beals R.K.	1982
27	Metachondromatosis: report of a case in a 6 year old boy. ( 1137528 )		1975
28	Metachondromatosis. ( 4547387 )		1974

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Genes for Metachondromatosis

Genes related to Metachondromatosis (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PTPN11	Protein Tyrosine Phosphatase, Non-Receptor Type 11	Protein Coding	1387.92	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	20577567 21533187
2	RPL6	Ribosomal Protein L6	Protein Coding	7.75	GeneCards inferred via : Variants (show sections)

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Variations for Metachondromatosis

ClinVar genetic disease variations for Metachondromatosis:

⁶ (show top 50) (show all 161)

#	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.412C> T (p.Arg138Ter)	single nucleotide variant	Pathogenic	rs267606989	GRCh38	Chromosome 12, 112453274: 112453274
4	PTPN11	NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly)	single nucleotide variant	Pathogenic	rs121918454	GRCh37	Chromosome 12, 112888199: 112888199
5	PTPN11	NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly)	single nucleotide variant	Pathogenic	rs121918454	GRCh38	Chromosome 12, 112450395: 112450395
6	PTPN11	NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp)	single nucleotide variant	Pathogenic	rs28933386	GRCh37	Chromosome 12, 112915523: 112915523
7	PTPN11	NM_002834.4(PTPN11): c.922A> G (p.Asn308Asp)	single nucleotide variant	Pathogenic	rs28933386	GRCh38	Chromosome 12, 112477719: 112477719
8	PTPN11	NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser)	single nucleotide variant	Pathogenic	rs121918455	GRCh37	Chromosome 12, 112915524: 112915524
9	PTPN11	NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser)	single nucleotide variant	Pathogenic	rs121918455	GRCh38	Chromosome 12, 112477720: 112477720
10	PTPN11	NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met)	single nucleotide variant	Pathogenic	rs121918457	GRCh37	Chromosome 12, 112926270: 112926270
11	PTPN11	NM_002834.4(PTPN11): c.1403C> T (p.Thr468Met)	single nucleotide variant	Pathogenic	rs121918457	GRCh38	Chromosome 12, 112488466: 112488466
12	PTPN11	NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys)	single nucleotide variant	Pathogenic	rs121918459	GRCh37	Chromosome 12, 112888172: 112888172
13	PTPN11	NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys)	single nucleotide variant	Pathogenic	rs121918459	GRCh38	Chromosome 12, 112450368: 112450368
14	PTPN11	NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile)	single nucleotide variant	Pathogenic	rs121918462	GRCh37	Chromosome 12, 112888202: 112888202
15	PTPN11	NM_002834.4(PTPN11): c.218C> T (p.Thr73Ile)	single nucleotide variant	Pathogenic	rs121918462	GRCh38	Chromosome 12, 112450398: 112450398
16	PTPN11	NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg)	single nucleotide variant	Pathogenic	rs121918466	GRCh37	Chromosome 12, 112888220: 112888220
17	PTPN11	NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg)	single nucleotide variant	Pathogenic	rs121918466	GRCh38	Chromosome 12, 112450416: 112450416
18	PTPN11	NM_002834.4(PTPN11): c.409_413delGTACG (p.Val137Argfs)	deletion	Pathogenic	rs398122857	GRCh37	Chromosome 12, 112891075: 112891079
19	PTPN11	NM_002834.4(PTPN11): c.409_413delGTACG (p.Val137Argfs)	deletion	Pathogenic	rs398122857	GRCh38	Chromosome 12, 112453271: 112453275
20	PTPN11	NM_002834.4(PTPN11)	indel	Pathogenic	rs398122858	GRCh37	Chromosome 12, 112891124: 112891134
21	PTPN11	NM_002834.4(PTPN11)	indel	Pathogenic	rs398122858	GRCh38	Chromosome 12, 112453320: 112453330
22	PTPN11	NM_002834.4(PTPN11): c.353_354delCT (p.Ser118Trpfs)	deletion	Pathogenic	rs398122859	GRCh37	Chromosome 12, 112891019: 112891020
23	PTPN11	NM_002834.4(PTPN11): c.353_354delCT (p.Ser118Trpfs)	deletion	Pathogenic	rs398122859	GRCh38	Chromosome 12, 112453215: 112453216
24	PTPN11	NM_002834.4(PTPN11): c.1516C> T (p.Gln506Ter)	single nucleotide variant	Pathogenic	rs387907157	GRCh37	Chromosome 12, 112926896: 112926896
25	PTPN11	NM_002834.4(PTPN11): c.1516C> T (p.Gln506Ter)	single nucleotide variant	Pathogenic	rs387907157	GRCh38	Chromosome 12, 112489092: 112489092
26	PTPN11	NM_002834.4(PTPN11): c.1315delC (p.Leu439Trpfs)	deletion	Pathogenic	rs398122860	GRCh37	Chromosome 12, 112924369: 112924369
27	PTPN11	NM_002834.4(PTPN11): c.1315delC (p.Leu439Trpfs)	deletion	Pathogenic	rs398122860	GRCh38	Chromosome 12, 112486565: 112486565
28	PTPN11	NM_002834.4(PTPN11): c.643-2A> C	single nucleotide variant	Pathogenic	rs398122861	GRCh37	Chromosome 12, 112893752: 112893752
29	PTPN11	NM_002834.4(PTPN11): c.643-2A> C	single nucleotide variant	Pathogenic	rs398122861	GRCh38	Chromosome 12, 112455948: 112455948
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.255C> T (p.His85=)	single nucleotide variant	Benign	rs61736914	GRCh37	Chromosome 12, 112888239: 112888239
37	PTPN11	NM_002834.4(PTPN11): c.255C> T (p.His85=)	single nucleotide variant	Benign	rs61736914	GRCh38	Chromosome 12, 112450435: 112450435
38	PTPN11	NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397507506	GRCh37	Chromosome 12, 112888158: 112888158
39	PTPN11	NM_002834.4(PTPN11): c.174C> G (p.Asn58Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs397507506	GRCh38	Chromosome 12, 112450354: 112450354
40	PTPN11	NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp)	single nucleotide variant	Pathogenic	rs397507520	GRCh37	Chromosome 12, 112891083: 112891083
41	PTPN11	NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp)	single nucleotide variant	Pathogenic	rs397507520	GRCh38	Chromosome 12, 112453279: 112453279
42	PTPN11	NM_002834.4(PTPN11): c.1093-9C> A	single nucleotide variant	Benign/Likely benign	rs12301915	GRCh37	Chromosome 12, 112919869: 112919869
43	PTPN11	NM_002834.4(PTPN11): c.1093-9C> A	single nucleotide variant	Benign/Likely benign	rs12301915	GRCh38	Chromosome 12, 112482065: 112482065
44	PTPN11	NM_002834.4(PTPN11): c.1507G> C (p.Gly503Arg)	single nucleotide variant	Pathogenic	rs397507545	GRCh37	Chromosome 12, 112926887: 112926887
45	PTPN11	NM_002834.4(PTPN11): c.1507G> C (p.Gly503Arg)	single nucleotide variant	Pathogenic	rs397507545	GRCh38	Chromosome 12, 112489083: 112489083
46	PTPN11	NM_002834.4(PTPN11): c.1449T> G (p.Gly483=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143238917	GRCh37	Chromosome 12, 112926829: 112926829
47	PTPN11	NM_002834.4(PTPN11): c.1449T> G (p.Gly483=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143238917	GRCh38	Chromosome 12, 112489025: 112489025
48	PTPN11	NM_002834.4(PTPN11): c.1678C> T (p.Leu560Phe)	single nucleotide variant	Likely benign	rs397516797	GRCh37	Chromosome 12, 112940026: 112940026
49	PTPN11	NM_002834.4(PTPN11): c.1678C> T (p.Leu560Phe)	single nucleotide variant	Likely benign	rs397516797	GRCh38	Chromosome 12, 112502222: 112502222
50	PTPN11	NM_002834.4(PTPN11): c.48A> G (p.Ala16=)	single nucleotide variant	Likely benign	rs372736227	GRCh37	Chromosome 12, 112884113: 112884113

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Expression for Metachondromatosis

Search GEO for disease gene expression data for Metachondromatosis.

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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

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GO Terms for Metachondromatosis

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Sources for Metachondromatosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia