MCID: DYS183
MIFTS: 17

Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Dysplasia Epiphysealis Hemimelica with Chondromas and...

MalaCards integrated aliases for Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas:

Name: Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas 56 52
Carpotarsal Osteochondromatosis 52 58 71
Osteochondromatosis, Dominant Carpotarsal 56
Dominant Carpotarsal Osteochondromatosis 52
Maroteaux Le Merrer Bensahel Syndrome 52
Maroteaux-Le Merrer-Bensahel Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
carpotarsal osteochondromatosis
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
dysplasia epiphysealis hemimelica with chondromas and osteochondromas:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 127820
ICD10 via Orphanet 33 D16.9
UMLS via Orphanet 72 C1300233
Orphanet 58 ORPHA2767
MedGen 41 C1851956
UMLS 71 C1300233

Summaries for Dysplasia Epiphysealis Hemimelica with Chondromas and...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2767 Definition Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs. Visit the Orphanet disease page for more resources.

MalaCards based summary : Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas, also known as carpotarsal osteochondromatosis, is related to dysplasia epiphysealis hemimelica. Affiliated tissues include bone, and related phenotypes are joint swelling and osteochondroma

More information from OMIM: 127820

Related Diseases for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Diseases related to Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dysplasia epiphysealis hemimelica 10.3

Symptoms & Phenotypes for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Human phenotypes related to Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas:

31
# Description HPO Frequency HPO Source Accession
1 joint swelling 31 HP:0001386
2 osteochondroma 31 HP:0030431

Symptoms via clinical synopsis from OMIM:

56
Joints:
joint swelling
restricted joint mobility
intracapsular or periarticular chondromas of knee

Misc:
extraskeletal chondromas

Skel:
dysplasia epiphysealis hemimelica
osteochondromas

Clinical features from OMIM:

127820

Drugs & Therapeutics for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Search Clinical Trials , NIH Clinical Center for Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas

Genetic Tests for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Anatomical Context for Dysplasia Epiphysealis Hemimelica with Chondromas and...

MalaCards organs/tissues related to Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas:

40
Bone

Publications for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Articles related to Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas:

# Title Authors PMID Year
1
Dominant carpotarsal osteochondromatosis. 61 56
8411062 1993
2
Familial dysplasia epiphysealis hemimelica, associated with chondromas and osteochondromas. Report of a kindred with variable presentations. 56
4433372 1974
3
Epiphyseal osteochondromas with autosomal dominant inheritance and multiple parosteal bone proliferations. 61
17938915 2008

Variations for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Expression for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Search GEO for disease gene expression data for Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas.

Pathways for Dysplasia Epiphysealis Hemimelica with Chondromas and...

GO Terms for Dysplasia Epiphysealis Hemimelica with Chondromas and...

Sources for Dysplasia Epiphysealis Hemimelica with Chondromas and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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