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

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Aliases & Classifications for Metachondromatosis

MalaCards integrated aliases for Metachondromatosis:

Name: Metachondromatosis ⁵⁷ ¹¹ ¹⁹ ⁵⁸ ⁷⁵ ⁷³ ²⁸ ¹² ⁵ ⁴³ ¹⁴ ³⁸ ⁷¹

Metcds ⁵⁷ ¹¹ ¹⁹

Mc ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁸ ⁵⁷

Prevelance:

<1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Childhood ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other osteochondrodysplasias

Enchondromatosis

Orphanet: ⁵⁸

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0111512

OMIM® ⁵⁷ 156250

MeSH ⁴³ C562938 D018210

SNOMED-CT ⁶⁸ 205481009

ICD10 via Orphanet ³² Q78.4

UMLS via Orphanet ⁷² C0410530

Orphanet ⁵⁸ ORPHA2499

MedGen ⁴⁰ C0410530

SNOMED-CT via HPO ⁶⁹ 12584003 240196003 268274005 more

UMLS ⁷¹ C0410530

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Summaries for Metachondromatosis

GARD: ¹⁹ 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 genetic changes in the PTPN11 gene in several families and is inherited in an autosomal dominant manner.

MalaCards based summary: Metachondromatosis, also known as metcds, is related to exostoses, multiple, type i and hereditary multiple osteochondromas. An important gene associated with Metachondromatosis is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways are Signal Transduction and MET promotes cell motility. Affiliated tissues include bone and heart, and related phenotypes are avascular necrosis and cranial nerve paralysis

UniProtKB/Swiss-Prot: ⁷³ 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.

OMIM®: ⁵⁷ Metachondromatosis is characterized by exostoses (osteochondromas), commonly of the hands and feet, and enchondromas of long bone metaphyses and iliac crests (summary by Sobreira et al., 2010). (156250) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has material basis in heterozygous mutation in PTPN11 on chromosome 12q24.13.

Orphanet: ⁵⁸ Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.

Wikipedia: ⁷⁵ Metachondromatosis is an autosomal dominant, incompletely penetrant genetic disease affecting the growth... more...

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Related Diseases for Metachondromatosis

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

(show top 50) (show all 102)

#	Related Disease	Score	Top Affiliating Genes
1	exostoses, multiple, type i	32.0	EXT2 EXT1
2	hereditary multiple osteochondromas	30.9	EXT2 EXT1
3	osteochondroma	30.5	PTHLH EXT2 EXT1
4	hereditary multiple exostoses	30.0	IHH EXT2 EXT1
5	chondrosarcoma	29.8	SOX9 PTHLH EXT2 EXT1 COL10A1
6	osteochondrosis	29.8	SOX9 IHH COL2A1
7	exostosis	29.7	SOX9 PTHLH IHH EXT2 EXT1 COL2A1
8	metaphyseal dysplasia	29.6	PTHLH PTH1R COL2A1 COL10A1
9	cartilage disease	29.5	SOX9 IHH COL2A1 COL10A1
10	noonan syndrome 1	29.3	SRC SOS1 PTS PTPN11
11	noonan syndrome with multiple lentigines	29.3	SRC SOS1 PTS PTPN11
12	enchondromatosis, multiple, ollier type	29.3	SOX9 PTPN11 PTHLH PTH1R IHH EXT2
13	multiple enchondromatosis, maffucci type	29.1	PTPN11 PTHLH PTH1R IHH EXT2 EXT1
14	rasopathy	29.0	SRC SOS1 PTS PTPN11
15	osteochondrodysplasia	28.2	SP7 SOX9 PTPN11 PTHLH PTH1R IHH
16	bone disease	28.0	SRC SP7 PTHLH PTH1R EXT2 EXT1
17	ankylosing spondylitis 3	10.3	EXT2 EXT1
18	periosteal osteogenic sarcoma	10.3	EXT2 EXT1
19	juxtacortical chondroma	10.3	EXT2 EXT1
20	charcot-marie-tooth disease, x-linked recessive, 3	10.3	EXT2 EXT1
21	charcot-marie-tooth disease, x-linked recessive, 2	10.3	EXT2 EXT1
22	camptodactyly-tall stature-scoliosis-hearing loss syndrome	10.2	PTH1R IHH
23	avascular necrosis	10.2
24	tooth ankylosis	10.2	PTHLH PTH1R
25	hypercalcemia, infantile, 1	10.2	PTHLH PTH1R
26	achondroplasia, severe, with developmental delay and acanthosis nigricans	10.2	PTH1R IHH
27	clear cell chondrosarcoma	10.2	PTHLH EXT2
28	eiken syndrome	10.2	PTHLH PTH1R
29	coxa vara	10.2	COL2A1 COL10A1
30	chondrodysplasia, blomstrand type	10.2	PTHLH PTH1R
31	primary bone dysplasia	10.2	CTSK COL2A1
32	hypertension and brachydactyly syndrome	10.1	PTHLH PTH1R
33	spondyloperipheral dysplasia	10.1	COL2A1 COL10A1
34	platyspondylic lethal skeletal dysplasia, torrance type	10.1	COL2A1 COL10A1
35	spondyloepiphyseal dysplasia, nishimura type	10.1	COL2A1 COL10A1
36	hypochondrogenesis	10.1	COL2A1 COL10A1
37	keratosis pilaris atrophicans faciei	10.1	SOS1 PTPN11
38	villonodular synovitis	10.1	SOS1 PTPN11
39	periosteal chondrosarcoma	10.1	EXT2 EXT1 COL2A1
40	avascular necrosis of femoral head, primary, 1	10.1
41	trichorhinophalangeal syndrome	10.1
42	enchondroma	10.1
43	skin granular cell tumor	10.1	SOS1 PTPN11
44	metaphyseal chondrodysplasia, jansen type	10.1	PTHLH PTH1R
45	larsen syndrome	10.1	EXT2 EXT1 COL2A1
46	syndactyly, type v	10.1	SOX9 PTHLH
47	pigmented villonodular synovitis	10.1	SOS1 PTPN11
48	achondrogenesis, type ii	10.1	COL2A1 COL10A1
49	thanatophoric dysplasia, type i	10.1	PTH1R IHH COL2A1
50	acromesomelic dysplasia	10.0	IHH COL2A1 COL10A1

Graphical network of the top 20 diseases related to Metachondromatosis:

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Symptoms & Phenotypes for Metachondromatosis

Human phenotypes related to Metachondromatosis:

⁵⁸ ³⁰ (show all 12)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	avascular necrosis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0010885
2	cranial nerve paralysis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0006824
3	bone pain ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002653
4	multiple enchondromatosis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0005701
5	exostoses ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0100777
6	abnormal epiphysis morphology ³⁰	Hallmark (90%)		HP:0005930
7	abnormal metaphysis morphology ³⁰	Hallmark (90%)		HP:0000944
8	bowing of the long bones ³⁰			HP:0006487
9	abnormality of the metaphysis ⁵⁸		Very frequent (99-80%)
10	abnormality of epiphysis morphology ⁵⁸		Very frequent (99-80%)
11	abnormal joint morphology ³⁰			HP:0001367
12	multiple digital exostoses ³⁰			HP:0005655

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Metachondromatosis:

⁴⁵ (show all 15)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.34	COL10A1 COL2A1 CTSK DDRGK1 EXT1 IHH
2	nervous system	MP:0003631	10.33	COL10A1 COL2A1 CTSK EXT1 IHH PTH1R
3	limbs/digits/tail	MP:0005371	10.31	COL10A1 COL2A1 CTSK DDRGK1 EXT1 IHH
4	endocrine/exocrine gland	MP:0005379	10.21	COL10A1 CTSK IHH PTH1R PTHLH PTPN11
5	cellular	MP:0005384	10.21	COL10A1 COL2A1 CTSK DDRGK1 EXT1 IHH
6	craniofacial	MP:0005382	10.2	COL10A1 COL2A1 CTSK EXT1 IHH PTH1R
7	embryo	MP:0005380	10.19	COL2A1 DDRGK1 EXT1 EXT2 IHH PTH1R
8	digestive/alimentary	MP:0005381	10.18	COL2A1 CTSK EXT1 IHH PTH1R PTHLH
9	behavior/neurological	MP:0005386	10.14	COL10A1 COL2A1 CTSK DDRGK1 EXT1 PTH1R
10	immune system	MP:0005387	10.11	COL10A1 COL2A1 CTSK DDRGK1 PTH1R PTHLH
11	skeleton	MP:0005390	10.1	COL10A1 COL2A1 CTSK DDRGK1 EXT1 EXT2
12	respiratory system	MP:0005388	9.97	COL2A1 CTSK IHH PTH1R PTHLH PTPN11
13	vision/eye	MP:0005391	9.81	COL2A1 EXT1 IHH PTH1R PTHLH PTPN11
14	hematopoietic system	MP:0005397	9.65	COL10A1 CTSK DDRGK1 PTH1R PTHLH PTPN11
15	mortality/aging	MP:0010768	9.47	COL10A1 COL2A1 DDRGK1 EXT1 EXT2 IHH

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Drugs & Therapeutics for Metachondromatosis

Search Clinical Trials, NIH Clinical Center for Metachondromatosis

Cochrane evidence based reviews: metachondromatosis

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Genetic Tests for Metachondromatosis

Genetic tests related to Metachondromatosis:

#	Genetic test	Affiliating Genes
1	Metachondromatosis ²⁸	PTPN11

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Anatomical Context for Metachondromatosis

Organs/tissues related to Metachondromatosis:

MalaCards : Bone, Heart

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Publications for Metachondromatosis

Articles related to Metachondromatosis:

(show top 50) (show all 77)

#	Title	Authors	PMID	Year
1	Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. ⁶² ⁵⁷ ⁵	Bowen ME...Warman ML	21533187	2011
2	Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. ⁶² ⁵⁷ ⁵	Sobreira NL...Goldstein DB	20577567	2010
3	Metachondromatosis. Report of four cases. ⁶² ⁵⁷	Bassett GS...Cowell HR	3873457	1985
4	Metachondromatosis. ⁶² ⁵⁷	Kennedy LA	6602353	1983
5	[Metachondromatosis, 3 case reports with hereditary occurrence]. ⁶² ⁵⁷	Vanek J	6979336	1982
6	The widened spectrum of multiple cartilaginous exostosis (MCE). ⁶² ⁵⁷	Giedion A...Muggiasca F	1085923	1975
7	[Metachondromatosis]. ⁶² ⁵⁷	Maroteaux P	5313319	1971
8	Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. ⁵	Tafazoli A...Abbaszadegan MR	28957739	2018
9	Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. ⁵	Ueda K...Okamoto N	28650561	2017
10	Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. ⁵	van Nierop JWI...Kunst HPM	28483241	2017
11	Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. ⁵	van Trier DC...Cruysberg JR	27521173	2016
12	De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. ⁵	Homsy J...Chung WK	26785492	2015
13	[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. ⁵	Ejarque I...Perez-Aytes A	25912702	2015
14	Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. ⁵	Kiel C...Serrano L	24803665	2014
15	Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). ⁵	Qiu W...Chirgadze NY	24628801	2014
16	Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. ⁵	Yoon SR...Arnheim N	23726368	2013
17	Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. ⁵	Jongmans MC...Hoogerbrugge N	21407260	2011
18	Lethal presentation of neurofibromatosis and Noonan syndrome. ⁵	Prada CE...Hopkin RJ	21567923	2011
19	Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? ⁵	Brasil AS...Bertola DR	21340158	2010
20	Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. ⁵	Edouard T...Raynal P	20308328	2010
21	Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. ⁵	Zhang W...Shou W	19509418	2009
22	Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. ⁵	Yoshida R...Nagai T	18253957	2008
23	Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. ⁵	Oishi K...Gelb BD	16399795	2006
24	Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. ⁵	Keilhack H...Neel BG	15987685	2005
25	Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. ⁵	Fragale A...Gelb BD	14974085	2004
26	Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. ⁵	Tartaglia M...Gelb BD	11704759	2001
27	Arthroscopic resection of femoral neck osteochondroma: Report of a pediatric case of metachondromatosis. ⁶²	Mansor N...Kamegaya M	31522903	2022
28	Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis. ⁶²	Rydzanicz M...Ploski R	35112464	2022
29	Update on the imaging features of the enchondromatosis syndromes. ⁶²	Sharif B...Saifuddin A	34302201	2022
30	Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2. ⁶²	Solman M...den Hertog J	36407105	2022
31	Targeted Ptpn11 deletion in mice reveals the essential role of SHP2 in osteoblast differentiation and skeletal homeostasis. ⁶²	Wang L...Yang W	33500396	2021
32	A rare association of pathological variant of Alport's syndrome caused by hemizygous 5' splice mutation in intron 10 of COL4A5 gene with metachondromatosis due to heterozygous missense variation in protein tyrosine phosphatase nonreceptor type 11 gene. ⁶²	Sethi S...Sohal PM	31464257	2019
33	Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT/CT: A case report. ⁶²	Wang Z...Chen Y	29703018	2018
34	Chondrosarcoma in Metachondromatosis: A Rare Case Report. ⁶²	Jamshidi K...Bahrabadi M	29373887	2017
35	SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes. ⁶²	Wang L...Yang W	28983104	2017
36	Otofaciocervical syndrome and metachondromatosis in a girl: Presentation of a novel association and remarks on clinical variability of branchial-arch disorders. ⁶²	Salinas-Torres VM...Salinas-Torres RA	27240490	2016
37	Metachondromatosis without Enchondromas: A Case Report and Review of the Literature. ⁶²	Kanaya K...Yamashita T	29252664	2016
38	Exostoses, enchondromatosis and metachondromatosis; diagnosis and management. ⁶²	McFarlane J...Freeman R	26984661	2016
39	[The Biological Function of SHP2 in Human Disease]. ⁶²	Li SM	27028808	2016
40	SHP2-Deficiency in Chondrocytes Deforms Orofacial Cartilage and Ciliogenesis in Mice. ⁶²	Kamiya N...Komatsu Y	25919282	2015
41	SHP2 sails from physiology to pathology. ⁶²	Tajan M...Yart A	26341048	2015
42	ERK1 and ERK2 regulate chondrocyte terminal differentiation during endochondral bone formation. ⁶²	Chen Z...Murakami S	25401279	2015
43	Intraosseous atypical chondroid tumor or chondrosarcoma grade 1 in patients with multiple osteochondromas. ⁶²	Goud AL...Ham J	25568391	2015
44	Regulation of bone and skeletal development by the SHP-2 protein tyrosine phosphatase. ⁶²	Kamiya N...King PD	25178522	2014
45	Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusions. ⁶²	Kim HK...Kamiya N	23929766	2014
46	SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates. ⁶²	Bowen ME...Warman ML	24875294	2014
47	Metachondromatosis: more than just multiple osteochondromas. ⁶²	Fisher TJ...Cundy PJ	24432109	2013
48	Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling. ⁶²	Yang W...Neel BG	23863940	2013
49	From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis. ⁶²	Yang W...Neel BG	25003010	2013
50	Enchondromatosis revisited: new classification with molecular basis. ⁶²	Superti-Furga A...Nishimura G	22791316	2012

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Genes for Metachondromatosis

Genes related to Metachondromatosis (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	1398.44	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	11704759 14974085 15987685 (more) 16399795 18253957 19509418 20308328 20577567 21340158 21407260 21533187 21567923 23726368 24628801 24803665 25912702 26785492 27521173 28483241 28650561 28957739
2	EXT2	Exostosin Glycosyltransferase 2	Protein Coding	7.02	DISEASES inferred ¹⁴
3	EXT1	Exostosin Glycosyltransferase 1	Protein Coding	6.83	DISEASES inferred ¹⁴
4	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	6.24	DISEASES inferred ¹⁴
5	PTH1R	Parathyroid Hormone 1 Receptor	Protein Coding	6.14	DISEASES inferred ¹⁴
6	CTSK	Cathepsin K	Protein Coding	5.84	DISEASES inferred ¹⁴
7	COL10A1	Collagen Type X Alpha 1 Chain	Protein Coding	5.52	DISEASES inferred ¹⁴
8	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	5.37	DISEASES inferred ¹⁴
9	PTS	6-Pyruvoyltetrahydropterin Synthase	Protein Coding	5.28	DISEASES inferred ¹⁴
10	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	5.21	DISEASES inferred ¹⁴
11	SOX9	SRY-Box Transcription Factor 9	Protein Coding	5.06	DISEASES inferred ¹⁴
12	SP7	Sp7 Transcription Factor	Protein Coding	4.96	DISEASES inferred ¹⁴
13	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	4.94	DISEASES inferred ¹⁴
14	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	4.87	DISEASES inferred ¹⁴
15	DDRGK1	DDRGK Domain Containing 1	Protein Coding	4.62	DISEASES inferred ¹⁴

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Variations for Metachondromatosis

ClinVar genetic disease variations for Metachondromatosis:

⁵ (show top 50) (show all 139)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PTPN11	NM_002834.5(PTPN11):c.409_413del (p.Val137fs)	DEL	Pathogenic	31547	rs398122857	GRCh37: 12:112891075-112891079 GRCh38: 12:112453271-112453275
2	PTPN11	NM_002834.5(PTPN11):c.458_463delinsAAGAACACAGGGGAGAGCA (p.Thr153fs)	INDEL	Pathogenic	31548	rs398122858	GRCh37: 12:112891124-112891129 GRCh38: 12:112453320-112453325
3	PTPN11	NM_002834.5(PTPN11):c.353_354del (p.Ser118fs)	MICROSAT	Pathogenic	31549	rs398122859	GRCh37: 12:112891014-112891015 GRCh38: 12:112453210-112453211
4	PTPN11	NM_002834.5(PTPN11):c.1516C>T (p.Gln506Ter)	SNV	Pathogenic	31550	rs387907157	GRCh37: 12:112926896-112926896 GRCh38: 12:112489092-112489092
5	PTPN11	NM_002834.5(PTPN11):c.1315del (p.Leu439fs)	DEL	Pathogenic	31551	rs398122860	GRCh37: 12:112924368-112924368 GRCh38: 12:112486564-112486564
6	PTPN11	NM_002834.5(PTPN11):c.643-2A>C	SNV	Pathogenic	31552	rs398122861	GRCh37: 12:112893752-112893752 GRCh38: 12:112455948-112455948
7	PTPN11	NM_002834.5(PTPN11):c.295A>T (p.Lys99Ter)	SNV	Pathogenic	31553	rs387907158	GRCh37: 12:112888279-112888279 GRCh38: 12:112450475-112450475
8	PTPN11	NM_002834.5(PTPN11):c.1093-1G>T	SNV	Pathogenic	31554	rs398122862	GRCh37: 12:112919877-112919877 GRCh38: 12:112482073-112482073
9	PTPN11	NG_007459.1:g.45924_60608delinsCA	INDEL	Pathogenic	31555		GRCh37: 12:112897459-112912143 GRCh38: 12:112459655-112474339
10	PTPN11	NM_002834.5(PTPN11):c.661del (p.Arg220_Ile221insTer)	DEL	Pathogenic	44611	rs397516807	GRCh37: 12:112893772-112893772 GRCh38: 12:112455968-112455968
11	PTPN11	NM_002834.5(PTPN11):c.1339del (p.Glu447fs)	DEL	Pathogenic	829985	rs1592852978	GRCh37: 12:112924392-112924392 GRCh38: 12:112486588-112486588
12	PTPN11	NM_002834.5(PTPN11):c.412C>T (p.Arg138Ter)	SNV	Pathogenic	13348	rs267606989	GRCh37: 12:112891078-112891078 GRCh38: 12:112453274-112453274
13	PTPN11	NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)	SNV	Pathogenic	40502	rs397507514	GRCh37: 12:112888212-112888212 GRCh38: 12:112450408-112450408
14	PTPN11	NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	SNV	Pathogenic	13349	rs267606990	GRCh37: 12:112856920-112856920 GRCh38: 12:112419116-112419116
15	PTPN11	NM_002834.5(PTPN11):c.514_524del (p.Ile172fs)	DEL	Pathogenic	13347		GRCh37: 12:112891180-112891190 GRCh38: 12:112453376-112453386
16	PTPN11	NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)	SNV	Pathogenic	40489	rs397507506	GRCh37: 12:112888158-112888158 GRCh38: 12:112450354-112450354
17	PTPN11	NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	SNV	Pathogenic	40558	rs397507545	GRCh37: 12:112926887-112926887 GRCh38: 12:112489083-112489083
18	PTPN11	NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	SNV	Pathogenic	13325	rs121918454	GRCh37: 12:112888199-112888199 GRCh38: 12:112450395-112450395
19	PTPN11	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	SNV	Pathogenic	40513	rs397507520	GRCh37: 12:112891083-112891083 GRCh38: 12:112453279-112453279
20	PTPN11	NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)	SNV	Pathogenic	13334	rs121918462	GRCh37: 12:112888202-112888202 GRCh38: 12:112450398-112450398
21	PTPN11	NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	SNV	Pathogenic Pathogenic	13326	rs28933386	GRCh37: 12:112915523-112915523 GRCh38: 12:112477719-112477719
22	PTPN11	NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	SNV	Pathogenic	13340	rs121918466	GRCh37: 12:112888220-112888220 GRCh38: 12:112450416-112450416
23	PTPN11	NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	SNV	Pathogenic	13331	rs121918457	GRCh37: 12:112926270-112926270 GRCh38: 12:112488466-112488466
24	PTPN11	NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	SNV	Pathogenic Pathogenic	13333	rs121918459	GRCh37: 12:112888172-112888172 GRCh38: 12:112450368-112450368
25	PTPN11	NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	SNV	Pathogenic	13327	rs121918455	GRCh37: 12:112915524-112915524 GRCh38: 12:112477720-112477720
26	PTPN11	NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	SNV	Pathogenic	13329	rs121918460	GRCh37: 12:112888168-112888168 GRCh38: 12:112450364-112450364
27	PTPN11	NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)	SNV	Pathogenic	13324	rs121918453	GRCh37: 12:112888198-112888198 GRCh38: 12:112450394-112450394
28	PTPN11	NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)	SNV	Pathogenic	40528	rs397507531	GRCh37: 12:112910844-112910844 GRCh38: 12:112473040-112473040
29	PTPN11	NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	SNV	Pathogenic	40559	rs397507545	GRCh37: 12:112926887-112926887 GRCh38: 12:112489083-112489083
30	PTPN11	NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	SNV	Pathogenic Pathogenic	40562	rs397507547	GRCh37: 12:112926890-112926890 GRCh38: 12:112489086-112489086
31	PTPN11	NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	SNV	Pathogenic	40487	rs397507505	GRCh37: 12:112888156-112888156 GRCh38: 12:112450352-112450352
32	PTPN11	NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	SNV	Pathogenic	13328	rs121918456	GRCh37: 12:112910827-112910827 GRCh38: 12:112473023-112473023
33	PTPN11	NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	SNV	Pathogenic Pathogenic	40522	rs376607329	GRCh37: 12:112910785-112910785 GRCh38: 12:112472981-112472981
34	PTPN11	NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	SNV	Pathogenic	40525	rs397507529	GRCh37: 12:112910835-112910835 GRCh38: 12:112473031-112473031
35	PTPN11	NM_002834.5(PTPN11):c.1546_1547insCTATCTATA (p.Tyr515_Met516insThrIleTyr)	INSERT	Likely Pathogenic	1708482		GRCh37: 12:112926918-112926919 GRCh38: 12:112489114-112489115
36	PTPN11	NM_002834.5(PTPN11):c.1070del (p.Thr357fs)	DEL	Likely Pathogenic	1679347		GRCh37: 12:112915797-112915797 GRCh38: 12:112477993-112477993
37	PTPN11	NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)	SNV	Likely Pathogenic	40527	rs397507531	GRCh37: 12:112910844-112910844 GRCh38: 12:112473040-112473040
38	PTPN11	NM_002834.5(PTPN11):c.265_269del (p.Lys89fs)	DEL	Uncertain Significance	981580		GRCh37: 12:112888248-112888252 GRCh38: 12:112450444-112450448
39	PTPN11	NM_002834.5(PTPN11):c.*1015C>G	SNV	Uncertain Significance	307237	rs538946251	GRCh37: 12:112944611-112944611 GRCh38: 12:112506807-112506807
40	PTPN11	NM_002834.5(PTPN11):c.*1536T>G	SNV	Uncertain Significance	307246	rs371375321	GRCh37: 12:112945132-112945132 GRCh38: 12:112507328-112507328
41	PTPN11	NM_002834.5(PTPN11):c.14+8G>T	SNV	Uncertain Significance	307224	rs886048965	GRCh37: 12:112856937-112856937 GRCh38: 12:112419133-112419133
42	PTPN11	NM_002834.5(PTPN11):c.-139G>A	SNV	Uncertain Significance	307223	rs886048964	GRCh37: 12:112856777-112856777 GRCh38: 12:112418973-112418973
43	PTPN11	NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala)	SNV	Uncertain Significance	488168	rs1555267825	GRCh37: 12:112891139-112891139 GRCh38: 12:112453335-112453335
44	PTPN11	NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)	SNV	Uncertain Significance	40540	rs146571700	GRCh37: 12:112915775-112915775 GRCh38: 12:112477971-112477971
45	PTPN11	NM_002834.5(PTPN11):c.*802G>A	SNV	Uncertain Significance	882617	rs753900307	GRCh37: 12:112944398-112944398 GRCh38: 12:112506594-112506594
46	PTPN11	NM_002834.5(PTPN11):c.*1616C>T	SNV	Uncertain Significance	882664	rs1340461859	GRCh37: 12:112945212-112945212 GRCh38: 12:112507408-112507408
47	PTPN11	NM_002834.5(PTPN11):c.*2179C>T	SNV	Uncertain Significance	882713	rs1269783582	GRCh37: 12:112945775-112945775 GRCh38: 12:112507971-112507971
48	PTPN11	NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu)	SNV	Uncertain Significance	591599	rs1566185599	GRCh37: 12:112924415-112924415 GRCh38: 12:112486611-112486611
49	PTPN11	NM_002834.5(PTPN11):c.1379+6A>G	SNV	Uncertain Significance	496182	rs746958309	GRCh37: 12:112924439-112924439 GRCh38: 12:112486635-112486635
50	PTPN11	NM_002834.5(PTPN11):c.*682T>C	SNV	Uncertain Significance	883350	rs1223950825	GRCh37: 12:112944278-112944278 GRCh38: 12:112506474-112506474

Sources

Expression for Metachondromatosis

Search GEO for disease gene expression data for Metachondromatosis.

Sources

Pathways for Metachondromatosis

Pathways related to Metachondromatosis according to GeneCards Suite gene sharing:

(show all 24)

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.39	SRC SOX9 SOS1 PTPN11 PTHLH PTH1R
2	MET promotes cell motility ⁶⁶ Show member pathways Beta1 integrin cell surface interactions ⁶¹ MET activates PTK2 signaling ⁶⁶ MET activates RAP1 and RAC1 ⁶⁶ MET activates RAS signaling ⁶⁶ MET interacts with TNS proteins ⁶⁶ MET Receptor Activation ⁶⁶ MET receptor recycling ⁶⁶ Signaling by MET ⁶⁶	12.2	SRC SOS1 PTPN11 COL2A1
3	G alpha (s) signalling events ⁶⁶ Show member pathways Defective ACTH causes obesity and POMCD ⁶⁶	12	SRC PTHLH PTH1R
4	Fragile X syndrome ⁷⁴ Show member pathways Pilocytic astrocytoma ⁷⁴	11.86	SRC SOS1 PTPN11
5	Development EPO-induced Jak-STAT pathway ²² Show member pathways EPO receptor signaling ⁷⁴ Signaling events mediated by Stem cell factor receptor (c-Kit) ⁶¹	11.83	SRC SOS1 PTPN11
6	MAP Kinase Signaling ³	11.81	SRC SOS1 PTPN11
7	Gastrin signaling pathway ⁷⁴	11.79	PTPN11 SOS1 SRC
8	NCAM signaling for neurite out-growth ⁶⁶ Show member pathways NCAM1 interactions ⁶⁶	11.76	SRC SOS1 COL2A1
9	Signaling by SCF-KIT ⁶⁶ Show member pathways Regulation of KIT signaling ⁶⁶ Signaling by KIT in disease ⁶⁶ Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants ⁶⁶	11.72	SRC SOS1 PTPN11
10	Signaling by EGFR ⁶⁶ Show member pathways EGFR downregulation ⁶⁶ GAB1 signalosome ⁶⁶	11.7	SRC SOS1 PTPN11
11	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.68	SP7 SOX9 COL2A1
12	RET signaling ⁶⁶ Show member pathways Signaling events regulated by Ret tyrosine kinase ⁶¹	11.57	SRC SOS1 PTPN11
13	Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ⁶¹	11.5	PTPN11 SOS1 SRC
14	RUNX2 regulates bone development ⁶⁶ Show member pathways RUNX2 regulates chondrocyte maturation ⁶⁶ RUNX2 regulates osteoblast differentiation ⁶⁶	11.42	SRC SP7 IHH
15	Signaling by PDGF ⁶⁶ Show member pathways Downstream signal transduction ⁶⁶	11.4	SRC SOS1 PTPN11 COL2A1
16	Integrins in angiogenesis ⁶¹	11.36	SRC PTPN11 COL2A1
17	FGF signaling pathway ⁶¹	11.31	SRC SOS1 PTPN11
18	Endochondral ossification ⁷⁴ Show member pathways Endochondral ossification with skeletal dysplasias ⁷⁴	11.2	SOX9 PTHLH PTH1R IHH COL2A1 COL10A1
19	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.14	PTHLH PTH1R IHH
20	Plasma membrane estrogen receptor signaling ⁶¹	10.99	SRC SOS1
21	ErbB2/ErbB3 signaling events ⁶¹	10.94	SRC SOS1 PTPN11
22	Proteoglycan biosynthesis ⁷⁴	10.86	EXT2 EXT1
23	Regulation of RUNX1 Expression and Activity ⁶⁶	10.83	SRC PTPN11
24	FGFR3 signaling in chondrocyte proliferation and terminal differentiation ⁷⁴	10.69	SOX9 PTHLH PTH1R IHH

Sources

GO Terms for Metachondromatosis

Biological processes related to Metachondromatosis according to GeneCards Suite gene sharing:

(show all 36)

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	10.48	SRC SOX9 SOS1 PTPN11 PTHLH PTH1R
2	multicellular organism growth	GO:0035264	10.1	SOS1 PTPN11 IHH EXT1
3	fibroblast growth factor receptor signaling pathway	GO:0008543	10.08	SOS1 PTPN11 EXT1
4	bone mineralization	GO:0030282	10.08	SOX9 PTHLH PTH1R
5	gene expression	GO:0010467	10.05	SP7 SOX9 EXT2 EXT1
6	cellular response to transforming growth factor beta stimulus	GO:0071560	10.04	SRC SOX9 CTSK
7	epidermal growth factor receptor signaling pathway	GO:0007173	10.01	SRC SOX9 SOS1 PTPN11
8	cartilage development	GO:0051216	10	SOX9 IHH DDRGK1 COL2A1
9	chondrocyte proliferation	GO:0035988	9.97	IHH EXT1
10	heparin biosynthetic process	GO:0030210	9.96	EXT2 EXT1
11	multicellular organismal water homeostasis	GO:0050891	9.96	EXT1 EXT2
12	limb bud formation	GO:0060174	9.96	COL2A1 SOX9
13	cellular response to BMP stimulus	GO:0071773	9.96	SOX9 EXT1 COL2A1
14	notochord development	GO:0030903	9.95	SOX9 COL2A1
15	regulation of intracellular estrogen receptor signaling pathway	GO:0033146	9.95	SRC DDRGK1
16	cell population proliferation	GO:0008283	9.95	EXT1 IHH PTH1R SOX9 SRC
17	proteoglycan metabolic process	GO:0006029	9.94	IHH COL2A1
18	glandular epithelial cell differentiation	GO:0002067	9.93	EXT1 SOX9
19	cellular response to zinc ion starvation	GO:0034224	9.93	CTSK SP7
20	positive regulation of small GTPase mediated signal transduction	GO:0051057	9.92	SOS1 SRC
21	cartilage development involved in endochondral bone morphogenesis	GO:0060351	9.92	COL2A1 EXT1
22	negative regulation of chondrocyte differentiation	GO:0032331	9.92	SOX9 PTPN11 PTHLH IHH
23	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	GO:0015014	9.91	EXT2 EXT1
24	neurotrophin TRK receptor signaling pathway	GO:0048011	9.91	SRC SOS1 PTPN11
25	embryonic skeletal joint development	GO:0072498	9.88	EXT1 IHH
26	anterior head development	GO:0097065	9.88	SOX9 COL2A1
27	chondrocyte differentiation involved in endochondral bone morphogenesis	GO:0003413	9.87	SOX9 IHH
28	ossification	GO:0001503	9.86	SOX9 PTH1R IHH EXT2 EXT1 COL2A1
29	chondrocyte hypertrophy	GO:0003415	9.85	EXT1 SOX9
30	bone resorption	GO:0045453	9.85	CTSK EXT1 IHH PTH1R SRC
31	cellular polysaccharide biosynthetic process	GO:0033692	9.84	EXT1 EXT2
32	fluid transport	GO:0042044	9.83	EXT1 EXT2
33	skeletal system development	GO:0001501	9.8	SOX9 PTHLH PTH1R IHH EXT1 COL2A1
34	otic vesicle development	GO:0071599	9.77	COL2A1 SOX9
35	endochondral bone morphogenesis	GO:0060350	9.67	EXT1 EXT2 SOX9
36	chondrocyte differentiation	GO:0002062	9.32	SOX9 PTH1R IHH EXT2 EXT1 COL2A1

Molecular functions related to Metachondromatosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	peptide hormone receptor binding	GO:0051428	9.56	PTPN11 PTHLH
2	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	GO:0050508	9.46	EXT2 EXT1
3	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	GO:0050509	9.26	EXT2 EXT1
4	heparan sulfate N-acetylglucosaminyltransferase activity	GO:0042328	8.92	EXT2 EXT1

Sources

Sources for Metachondromatosis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

METCDS MCID: MTC018 MIFTS: 52	Metachondromatosis (METCDS) Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Metachondromatosis (METCDS)

Aliases & Classifications for Metachondromatosis

MalaCards integrated aliases for Metachondromatosis:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Metachondromatosis

Related Diseases for Metachondromatosis

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

Graphical network of the top 20 diseases related to Metachondromatosis:

Symptoms & Phenotypes for Metachondromatosis

Human phenotypes related to Metachondromatosis:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Metachondromatosis:

Drugs & Therapeutics for Metachondromatosis

Cochrane evidence based reviews: metachondromatosis

Genetic Tests for Metachondromatosis

Genetic tests related to Metachondromatosis:

Anatomical Context for Metachondromatosis

Organs/tissues related to Metachondromatosis:

Publications for Metachondromatosis

Articles related to Metachondromatosis:

Genes for Metachondromatosis

Genes related to Metachondromatosis (1 elite genes):

Variations for Metachondromatosis

ClinVar genetic disease variations for Metachondromatosis:

Expression for Metachondromatosis

Pathways for Metachondromatosis

Pathways related to Metachondromatosis according to GeneCards Suite gene sharing:

GO Terms for Metachondromatosis

Biological processes related to Metachondromatosis according to GeneCards Suite gene sharing:

Molecular functions related to Metachondromatosis according to GeneCards Suite gene sharing:

Sources for Metachondromatosis