MCID: EPP018
MIFTS: 12

Epiphyseal Dysplasia, Multiple, with Miniepiphyses

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, with Miniepiphyses:

Name: Epiphyseal Dysplasia, Multiple, with Miniepiphyses 56
Multiple Epiphyseal Dysplasia, with Miniepiphyses 58

Characteristics:

Orphanet epidemiological data:

58
multiple epiphyseal dysplasia, with miniepiphyses
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
epiphyseal dysplasia, multiple, with miniepiphyses:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 609325
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 72 C1836307
Orphanet 58 ORPHA166032
MedGen 41 C1836307

Summaries for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

MalaCards based summary : Epiphyseal Dysplasia, Multiple, with Miniepiphyses, is also known as multiple epiphyseal dysplasia, with miniepiphyses. Affiliated tissues include bone, and related phenotypes are short stature and epiphyseal dysplasia

More information from OMIM: 609325

Related Diseases for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

Human phenotypes related to Epiphyseal Dysplasia, Multiple, with Miniepiphyses:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 epiphyseal dysplasia 31 HP:0002656
3 genu varum 31 HP:0002970
4 patellar hypoplasia 31 HP:0003065
5 broad femoral neck 31 HP:0006429
6 short femoral neck 31 HP:0100864
7 generalized joint laxity 31 HP:0002761
8 lumbar hyperlordosis 31 HP:0002938
9 irregular patellae 31 HP:0006369

Symptoms via clinical synopsis from OMIM:

56
Skeletal:
generalized joint laxity

Skeletal Limbs:
genua vara
small, secondary ossification centers (miniepiphyses)
small, irregular patellae

Skeletal Pelvis:
abnormal proximal femur with miniepiphyses
wide, deformed femoral neck

Skeletal Spine:
normal vertebrae
increased lumbar lordosis

Growth Height:
short stature (<3rd percentile)

Clinical features from OMIM:

609325

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

Genetic Tests for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

Anatomical Context for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, with Miniepiphyses:

40
Bone

Publications for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

Articles related to Epiphyseal Dysplasia, Multiple, with Miniepiphyses:

# Title Authors PMID Year
1
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. 56
15523498 2005

Variations for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

Expression for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, with Miniepiphyses.

Pathways for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

GO Terms for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

Sources for Epiphyseal Dysplasia, Multiple, with Miniepiphyses

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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