MCID: EPP012
MIFTS: 21

Epiphyseal Dysplasia, Multiple, 2

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 2

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 2:

Name: Epiphyseal Dysplasia, Multiple, 2 57 13 73
Multiple Epiphyseal Dysplasia 2 53 75 29 6
Edm2 57 53 75
Dysplasia, Epiphyseal, Multiple, Type 2 40
Epiphyseal Dysplasia Multiple 2 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see edm1 )
presentation in childhood includes waddling gait and knee pain/stiffness


HPO:

32
epiphyseal dysplasia, multiple, 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 57 600204
MedGen 42 C1838429
MeSH 44 D010009
UMLS 73 C1838429

Summaries for Epiphyseal Dysplasia, Multiple, 2

UniProtKB/Swiss-Prot : 75 Multiple epiphyseal dysplasia 2: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal.

MalaCards based summary : Epiphyseal Dysplasia, Multiple, 2, also known as multiple epiphyseal dysplasia 2, is related to multiple epiphyseal dysplasia. An important gene associated with Epiphyseal Dysplasia, Multiple, 2 is COL9A2 (Collagen Type IX Alpha 2 Chain). Affiliated tissues include bone, and related phenotypes are waddling gait and epiphyseal dysplasia

OMIM : 57 Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease. Onset of the disorder is usually in childhood (summary by Jackson et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of EDM, see EDM1 (132400). (600204)

Related Diseases for Epiphyseal Dysplasia, Multiple, 2

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 2

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature, mild

Skeletal Hands:
mildly short hands

Skeletal Limbs:
flattened, irregular epiphyses
varus/valgus knee deformity
knee osteoarthritis


Clinical features from OMIM:

600204

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 waddling gait 32 HP:0002515
2 epiphyseal dysplasia 32 HP:0002656
3 genu varum 32 HP:0002970
4 flattened epiphysis 32 HP:0003071
5 mild short stature 32 HP:0003502
6 short palm 32 HP:0004279
7 knee osteoarthritis 32 HP:0005086
8 irregular epiphyses 32 HP:0010582
9 small epiphyses 32 HP:0010585

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 2

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 2

Genetic Tests for Epiphyseal Dysplasia, Multiple, 2

Genetic tests related to Epiphyseal Dysplasia, Multiple, 2:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 2 29 COL9A2

Anatomical Context for Epiphyseal Dysplasia, Multiple, 2

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 2:

41
Bone

Publications for Epiphyseal Dysplasia, Multiple, 2

Articles related to Epiphyseal Dysplasia, Multiple, 2:

# Title Authors Year
1
Multiple epiphyseal dysplasia. 2. Morphological and histochemical investigation of cartilage matrix, particularly in the pre-calcification stage. ( 1180054 )
1975

Variations for Epiphyseal Dysplasia, Multiple, 2

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL9A2 COL9A2, IVS3DS, G-C, +5 single nucleotide variant Pathogenic
2 COL9A2 COL9A2, IVS3DS, G-C, -1 single nucleotide variant Pathogenic
3 COL9A2 COL9A2, IVS3DS, T-C, +2 single nucleotide variant Pathogenic
4 COL9A2 COL9A2, IVS3DS, 186G-A single nucleotide variant Pathogenic
5 COL9A2 NM_001852.3(COL9A2): c.1123C> G (p.Arg375Gly) single nucleotide variant Uncertain significance rs375476174 GRCh38 Chromosome 1, 40304832: 40304832
6 COL9A2 NM_001852.3(COL9A2): c.1123C> G (p.Arg375Gly) single nucleotide variant Uncertain significance rs375476174 GRCh37 Chromosome 1, 40770504: 40770504
7 COL9A2 NM_001852.3(COL9A2): c.2059A> G (p.Lys687Glu) single nucleotide variant Uncertain significance rs201847956 GRCh38 Chromosome 1, 40301193: 40301193
8 COL9A2 NM_001852.3(COL9A2): c.2059A> G (p.Lys687Glu) single nucleotide variant Uncertain significance rs201847956 GRCh37 Chromosome 1, 40766865: 40766865

Expression for Epiphyseal Dysplasia, Multiple, 2

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 2.

Pathways for Epiphyseal Dysplasia, Multiple, 2

GO Terms for Epiphyseal Dysplasia, Multiple, 2

Sources for Epiphyseal Dysplasia, Multiple, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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
73 UMLS
74 UMLS via Orphanet
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