MCID: EPP015
MIFTS: 21

Epiphyseal Dysplasia, Multiple, 3

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

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 3

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 3:

Name: Epiphyseal Dysplasia, Multiple, 3 57 13 73
Multiple Epiphyseal Dysplasia 3 53 75 29 6
Edm3 57 53 75
Epiphyseal Dysplasia, Multiple, 3, with or Without Myopathy 57
Dysplasia, Epiphyseal, Multiple, Type 3 40
Epiphyseal Dysplasia Multiple 3 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see edm1 )
onset of symptoms in childhood with stiff, painful joints
joint replacement often necessary


HPO:

32
epiphyseal dysplasia, multiple, 3:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600969
MeSH 44 D010009
UMLS 73 C1832998

Summaries for Epiphyseal Dysplasia, Multiple, 3

UniProtKB/Swiss-Prot : 75 Multiple epiphyseal dysplasia 3: 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, 3, also known as multiple epiphyseal dysplasia 3, is related to multiple epiphyseal dysplasia. An important gene associated with Epiphyseal Dysplasia, Multiple, 3 is COL9A3 (Collagen Type IX Alpha 3 Chain). Affiliated tissues include bone, and related phenotypes are abnormality of the hip joint and epiphyseal dysplasia

OMIM : 57 Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (132400). (600969)

Related Diseases for Epiphyseal Dysplasia, Multiple, 3

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 3

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
osteoarthritis
late ossifying epiphyses
small, irregular epiphyses

Skeletal Hands:
short metacarpals
normal hands

Skeletal Pelvis:
hip arthrosis

Muscle Soft Tissue:
proximal muscle weakness
mild variability in muscle fiber size

Growth Height:
short stature, mild

Laboratory Abnormalities:
mildly elevated creatine phosphokinase (cpk)


Clinical features from OMIM:

600969

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 3:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 abnormality of the hip joint 32 HP:0001384
2 epiphyseal dysplasia 32 HP:0002656
3 delayed epiphyseal ossification 32 HP:0002663
4 osteoarthritis 32 HP:0002758
5 mild short stature 32 HP:0003502
6 proximal muscle weakness 32 HP:0003701
7 mildly elevated creatine phosphokinase 32 HP:0008180
8 short metacarpal 32 HP:0010049
9 irregular epiphyses 32 HP:0010582
10 small epiphyses 32 HP:0010585

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 3

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 3

Genetic Tests for Epiphyseal Dysplasia, Multiple, 3

Genetic tests related to Epiphyseal Dysplasia, Multiple, 3:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 3 29 COL9A3

Anatomical Context for Epiphyseal Dysplasia, Multiple, 3

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 3:

41
Bone

Publications for Epiphyseal Dysplasia, Multiple, 3

Variations for Epiphyseal Dysplasia, Multiple, 3

UniProtKB/Swiss-Prot genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:

75
# Symbol AA change Variation ID SNP ID
1 COL9A3 p.Gly35Asp VAR_072736

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL9A3 COL9A3, IVS2AS, A-T, -2 single nucleotide variant Pathogenic
2 COL9A3 COL9A3, IVS3DS, G-A, +5 single nucleotide variant Pathogenic
3 COL9A3 NM_001853.3(COL9A3): c.369+2T> C single nucleotide variant Pathogenic rs1057518693 GRCh38 Chromosome 20, 62821532: 62821532
4 COL9A3 NM_001853.3(COL9A3): c.369+2T> C single nucleotide variant Pathogenic rs1057518693 GRCh37 Chromosome 20, 61452884: 61452884
5 COL9A3 NM_001853.3(COL9A3): c.183+4A> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 20, 61449909: 61449909
6 COL9A3 NM_001853.3(COL9A3): c.183+4A> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 20, 62818557: 62818557
7 COL9A3 NM_001853.3(COL9A3): c.920G> A (p.Gly307Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 20, 62828783: 62828783
8 COL9A3 NM_001853.3(COL9A3): c.920G> A (p.Gly307Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 20, 61460135: 61460135
9 COL9A3 NM_001853.3(COL9A3): c.1249C> G (p.Pro417Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 61461902: 61461902
10 COL9A3 NM_001853.3(COL9A3): c.1249C> G (p.Pro417Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 62830550: 62830550

Expression for Epiphyseal Dysplasia, Multiple, 3

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 3.

Pathways for Epiphyseal Dysplasia, Multiple, 3

GO Terms for Epiphyseal Dysplasia, Multiple, 3

Sources for Epiphyseal Dysplasia, Multiple, 3

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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