MCID: MLT145
MIFTS: 52

Multiple Enchondromatosis, Maffucci Type

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Multiple Enchondromatosis, Maffucci Type

MalaCards integrated aliases for Multiple Enchondromatosis, Maffucci Type:

Name: Multiple Enchondromatosis, Maffucci Type 57
Maffucci Syndrome 57 12 76 53 25 59 29 15 73
Multiple Angiomas and Endochondromas 53 25
Hemangiomatosis Chondrodystrophica 53 25
Kast Syndrome 53 25
Enchondromatosis with Multiple Cavernous Hemangiomas 53
Dyschondroplasia and Cavernous Hemangioma 25
Dyschondrodysplasia with Hemangiomas 53
Enchondromatosis with Hemangiomata 25
Hemangiomata with Dyschondroplasia 25
Chondrodysplasia with Hemangioma 25
Chondroplasia Angiomatosis 25

Characteristics:

Orphanet epidemiological data:

59
maffucci syndrome
Inheritance: Not applicable; Age of onset: Childhood;

Classifications:



Summaries for Multiple Enchondromatosis, Maffucci Type

NIH Rare Diseases : 53 Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels). The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. They also have an increased risk of other cancers, such as ovarian or liver cancer. The underlying cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified. Researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm.

MalaCards based summary : Multiple Enchondromatosis, Maffucci Type, also known as maffucci syndrome, is related to enchondromatosis, multiple, ollier type and enchondroma. An important gene associated with Multiple Enchondromatosis, Maffucci Type is IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2, Mitochondrial), and among its related pathways/superpathways are Presynaptic function of Kainate receptors and heparan sulfate biosynthesis. Affiliated tissues include bone, skin and liver, and related phenotypes are dysphagia and scoliosis

Disease Ontology : 12 A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.

Genetics Home Reference : 25 Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.

OMIM : 57 Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). (614569)

Wikipedia : 76 Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas... more...

Related Diseases for Multiple Enchondromatosis, Maffucci Type

Diseases related to Multiple Enchondromatosis, Maffucci Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 enchondromatosis, multiple, ollier type 31.2 EXT1 EXT2 IDH1 IDH2 IHH PTH1R
2 enchondroma 30.3 IDH1 IDH2
3 chondrosarcoma 30.3 EXT1 EXT2 IDH1 IDH2
4 spindle cell hemangioma 30.3 IDH1 IDH2
5 childhood ovarian cancer 11.1
6 2-hydroxyglutaric aciduria 10.2 IDH1 IDH2
7 interval angle-closure glaucoma 10.2 IDH1 IDH2
8 adult oligodendroglioma 10.2 IDH1 IDH2
9 intracranial chondrosarcoma 10.2 IDH1 IDH2
10 cytogenetically normal acute myeloid leukemia 10.2 IDH1 IDH2
11 chondroblastic osteosarcoma 10.2 IDH1 IDH2
12 hemangioma 10.2
13 intraductal papilloma 10.2 IDH1 IDH2
14 glioma susceptibility 1 10.2 IDH1 IDH2
15 adult astrocytic tumour 10.2 IDH1 IDH2
16 fibrillary astrocytoma 10.2 IDH1 IDH2
17 diffuse infiltrative lymphocytosis syndrome 10.2 IDH1 IDH2
18 drug-induced mental disorder 10.1 IDH1 IDH2
19 drug psychosis 10.1 IDH1 IDH2
20 undifferentiated pleomorphic sarcoma 10.1 IDH1 IDH2
21 bile duct adenocarcinoma 10.1 IDH1 IDH2
22 juxtacortical chondroma 10.1 EXT1 PTH1R
23 pituitary adenoma 10.1
24 adenoma 10.1
25 clear cell chondrosarcoma 10.1 EXT2 PTH1R
26 brain stem glioma 10.1 IDH1 IDH2
27 dysplasia epiphysealis hemimelica 10.1 EXT1 EXT2
28 hereditary multiple osteochondromas 10.1 EXT1 EXT2
29 osteochondroma 10.1 EXT1 EXT2
30 astrocytoma 10.1
31 peripheral osteosarcoma 10.1 GNAS IDH1
32 supratentorial cancer 10.1 IDH1 IDH2
33 hereditary multiple exostoses 10.1 EXT1 EXT2
34 cerebrum cancer 10.0 IDH1 IDH2
35 exostosis 10.0 EXT1 EXT2
36 pseudohypoparathyroidism 10.0 GNAS PTH1R
37 d-2-hydroxyglutaric aciduria 1 10.0 IDH1 IDH2 PTH1R
38 pseudohypoparathyroidism, type ib 10.0 GNAS PTH1R
39 leukemia 10.0
40 sarcoma 10.0
41 hemangioendothelioma 10.0
42 periosteal chondrosarcoma 10.0 EXT1 IDH1 IDH2
43 bone remodeling disease 10.0 EXT1 EXT2
44 pilocytic astrocytoma of cerebellum 10.0 GNAS IDH1 IDH2
45 central nervous system cancer 10.0 IDH1 IDH2
46 myeloma, multiple 10.0 EXT1 IDH1 IDH2
47 chondrodysplasia, blomstrand type 10.0 IHH PTH1R
48 pregnancy adenoma 10.0 GNAS NT5C1B
49 metaphyseal chondrodysplasia, jansen type 9.9 IHH PTH1R
50 exostoses, multiple, type i 9.9 EXT1 EXT2

Graphical network of the top 20 diseases related to Multiple Enchondromatosis, Maffucci Type:



Diseases related to Multiple Enchondromatosis, Maffucci Type

Symptoms & Phenotypes for Multiple Enchondromatosis, Maffucci Type

Clinical features from OMIM:

614569

Human phenotypes related to Multiple Enchondromatosis, Maffucci Type:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
2 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
3 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
4 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
5 subcutaneous nodule 59 32 frequent (33%) Frequent (79-30%) HP:0001482
6 exostoses 59 32 frequent (33%) Frequent (79-30%) HP:0100777
7 venous thrombosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004936
8 goiter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000853
9 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002757
10 parathyroid adenoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002897
11 pituitary adenoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002893
12 bone pain 59 32 frequent (33%) Frequent (79-30%) HP:0002653
13 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
14 breast carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0003002
15 multiple enchondromatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005701
16 chondrosarcoma 59 32 very rare (1%) Occasional (29-5%) HP:0006765
17 hemangiomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007461
18 astrocytoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0009592
19 cerebral palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100021
20 ovarian neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0100615
21 neoplasm of the adrenal cortex 59 32 occasional (7.5%) Occasional (29-5%) HP:0100641
22 pathologic fracture 32 HP:0002756
23 growth delay 59 Occasional (29-5%)
24 sarcoma 59 Occasional (29-5%)
25 neoplasm of the parathyroid gland 59 Occasional (29-5%)
26 hemangioma 32 HP:0001028

MGI Mouse Phenotypes related to Multiple Enchondromatosis, Maffucci Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 EXT1 GNAS IHH PTH1R
2 limbs/digits/tail MP:0005371 9.46 EXT1 GNAS IHH PTH1R
3 neoplasm MP:0002006 9.26 EXT1 GNAS IDH2 PTH1R
4 skeleton MP:0005390 9.1 EXT1 EXT2 GNAS IDH1 IHH PTH1R

Drugs & Therapeutics for Multiple Enchondromatosis, Maffucci Type

Search Clinical Trials , NIH Clinical Center for Multiple Enchondromatosis, Maffucci Type

Genetic Tests for Multiple Enchondromatosis, Maffucci Type

Genetic tests related to Multiple Enchondromatosis, Maffucci Type:

# Genetic test Affiliating Genes
1 Maffucci Syndrome 29

Anatomical Context for Multiple Enchondromatosis, Maffucci Type

MalaCards organs/tissues related to Multiple Enchondromatosis, Maffucci Type:

41
Bone, Skin, Liver, Cortex, Pituitary, Adrenal Cortex, Myeloid

Publications for Multiple Enchondromatosis, Maffucci Type

Articles related to Multiple Enchondromatosis, Maffucci Type:

(show top 50) (show all 73)
# Title Authors Year
1
Synovial sarcoma complicating Maffucci syndrome. ( 29667613 )
2018
2
Esophageal hemangiomatosis with chest CT revealing a fine, curvilinear, calcified thrombus within the esophagus simulating acute esophageal fishbone impaction: first reported endoscopic photograph of GI manifestations in Maffucci syndrome. ( 27720888 )
2017
3
Maffucci syndrome with multiple hand calcifications. ( 28011156 )
2017
4
Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia. ( 28544751 )
2017
5
Sclerosing angiomatoid nodular transformation of the spleen in a patient with Maffucci syndrome: a case report and review of literature. ( 29126417 )
2017
6
Maffucci Syndrome Associated With Adrenocorticotropic Hormone-Independent Bilateral Macronodular Adrenal Hyperplasia. ( 29264445 )
2017
7
Maffucci syndrome and neoplasms: a case report and review of the literature. ( 26920730 )
2016
8
Multiple enchondromas and skin angiomas: Maffucci syndrome. ( 27037214 )
2016
9
Genetic variation analysis in a Chinese Maffucci syndrome patient. ( 26123062 )
2015
10
Maffucci Syndrome. An Interesting Case and a Review of the Literature. ( 26630472 )
2015
11
Failure of rapamycin in the treatment of multiple haemangiomas associated with Maffucci syndrome. ( 25623423 )
2015
12
Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome. ( 26508204 )
2015
13
Maffucci Syndrome. ( 26628708 )
2015
14
Somatic IDH1 mutation in a pituitary adenoma of a patient with Maffucci syndrome. ( 26473790 )
2015
15
A case of myelopathy because of enchondromas from Maffucci syndrome with successful surgical treatment. ( 25777744 )
2015
16
The imaging feature in capsule endoscopy on Maffucci syndrome with intestinal hemangioma. ( 25119451 )
2015
17
Maffucci syndrome and intracranial chondrosarcomas: a case report featuring spontaneous resolution of sixth nerve palsy. ( 24978479 )
2015
18
The Appearance of Maffucci Syndrome on 18F-FDG PET/CT. ( 25537758 )
2015
19
Chondrosarcoma of the Scapula in a Patient with Maffucci Syndrome - Case Report and Literature Review. ( 27617766 )
2015
20
Maffucci syndrome in an eight-year-old girl. ( 25994886 )
2015
21
Macrodactyly as a Presenting Sign of Maffucci Syndrome. ( 26364983 )
2015
22
Endoscopic Endonasal Approach in Skull Base Chondrosarcoma Associated with Maffucci Syndrome: Case Series and Literature Review. ( 26348567 )
2015
23
Chondrosarcoma of the nasal cavity in a patient with Maffucci syndrome: case report and review of the literature. ( 25519205 )
2014
24
The use of CP-EBUS-TBNA in the diagnosis of chondrosarcoma in a patient With Maffucci syndrome. ( 24739697 )
2014
25
Maffucci syndrome. ( 24917896 )
2014
26
IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome. ( 24344754 )
2014
27
Common somatic alterations identified in maffucci syndrome by molecular karyotyping. ( 25565925 )
2014
28
AIRP Best Cases in Radiologic-Pathologic Correlation: Maffucci Syndrome. ( 23674779 )
2013
29
Maffucci syndrome with the spindle cell hemangiomas in the mucosa of the lower lip: a rare case report and literature review. ( 23506121 )
2013
30
Maffucci syndrome with unilateral limb: a case report and review of the literature. ( 23592908 )
2013
31
Maffucci syndrome complicated with meningioma and pituitary adenoma. ( 21983103 )
2012
32
Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. ( 22147000 )
2011
33
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. ( 22057234 )
2011
34
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. ( 21533187 )
2011
35
Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. ( 22057236 )
2011
36
Hemangioma related to Maffucci syndrome in a man: a case report. ( 21689466 )
2011
37
Maffucci syndrome: a genome-wide analysis using high resolution single nucleotide polymorphism and expression arrays on four cases. ( 21584901 )
2011
38
Hand involvement in Ollier Disease and Maffucci Syndrome: a case series. ( 20975644 )
2010
39
Interesting image. Maffucci syndrome with extraosseous chondrosarcoma imaged with F-18 FDG PET-CT. ( 20026970 )
2010
40
Chondrosarcoma of the trachea in a patient with Maffucci syndrome. ( 20211090 )
2010
41
A case of Maffucci syndrome. ( 20036796 )
2010
42
A young woman with Maffucci syndrome. ( 20046010 )
2010
43
Maffucci syndrome associated with a pituitary adenoma and a probable brainstem tumor. ( 18976063 )
2009
44
Tracheal chondrosarcoma--a rare complication in Maffucci syndrome. ( 19729547 )
2009
45
Maffucci syndrome and soft tissue sarcoma: a case report. ( 19144147 )
2009
46
Do intracranial neoplasms differ in Ollier disease and maffucci syndrome? An in-depth analysis of the literature. ( 19934970 )
2009
47
Physical examination trumps mediastinoscopy in diagnosing maffucci syndrome: a rare cause of mediastinal mass. ( 19602963 )
2009
48
Maffucci syndrome and adrenal cortex tumor. ( 19782627 )
2009
49
Maffucci Syndrome with Hemangioma of the Liver. ( 20651956 )
2009
50
Unilateral mosaic cutaneous vascular lesions, enchondroma, multiple soft tissue chondromas and congenital fibrosarcoma--a variant of Maffucci syndrome? ( 18429781 )
2008

Variations for Multiple Enchondromatosis, Maffucci Type

Expression for Multiple Enchondromatosis, Maffucci Type

Search GEO for disease gene expression data for Multiple Enchondromatosis, Maffucci Type.

Pathways for Multiple Enchondromatosis, Maffucci Type

GO Terms for Multiple Enchondromatosis, Maffucci Type

Biological processes related to Multiple Enchondromatosis, Maffucci Type according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 9.56 GNAS IHH
2 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.55 GNAS PTH1R
3 glycosaminoglycan biosynthetic process GO:0006024 9.54 EXT1 EXT2
4 cell maturation GO:0048469 9.52 IHH PTH1R
5 tricarboxylic acid cycle GO:0006099 9.51 IDH1 IDH2
6 bone resorption GO:0045453 9.49 IHH PTH1R
7 2-oxoglutarate metabolic process GO:0006103 9.48 IDH1 IDH2
8 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.46 EXT1 EXT2
9 NADP metabolic process GO:0006739 9.43 IDH1 IDH2
10 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process GO:0015014 9.4 EXT1 EXT2
11 embryonic skeletal joint development GO:0072498 9.37 EXT1 IHH
12 isocitrate metabolic process GO:0006102 9.32 IDH1 IDH2
13 cellular polysaccharide biosynthetic process GO:0033692 9.26 EXT1 EXT2
14 skeletal system development GO:0001501 9.26 EXT1 GNAS IHH PTH1R
15 glyoxylate cycle GO:0006097 9.16 IDH1 IDH2
16 ossification GO:0001503 8.92 EXT1 EXT2 IHH PTH1R

Molecular functions related to Multiple Enchondromatosis, Maffucci Type according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.99 EXT1 EXT2 GNAS IDH1 IDH2 IHH
2 protein homodimerization activity GO:0042803 9.77 EXT1 EXT2 IDH1 IDH2 PTH1R
3 magnesium ion binding GO:0000287 9.61 IDH1 IDH2 NT5C1B
4 NAD binding GO:0051287 9.49 IDH1 IDH2
5 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.48 IDH1 IDH2
6 glucuronosyltransferase activity GO:0015020 9.46 EXT1 EXT2
7 acetylglucosaminyltransferase activity GO:0008375 9.4 EXT1 EXT2
8 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042328 9.32 EXT1 EXT2
9 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0050508 9.26 EXT1 EXT2
10 isocitrate dehydrogenase (NADP+) activity GO:0004450 9.16 IDH1 IDH2
11 isocitrate dehydrogenase activity GO:0004448 8.96 IDH1 IDH2
12 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity GO:0050509 8.62 EXT1 EXT2

Sources for Multiple Enchondromatosis, Maffucci Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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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
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74 UMLS via Orphanet
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