EDM6
MCID: EPP009
MIFTS: 20

Epiphyseal Dysplasia, Multiple, 6 (EDM6)

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

Aliases & Classifications for Epiphyseal Dysplasia, Multiple, 6

MalaCards integrated aliases for Epiphyseal Dysplasia, Multiple, 6:

Name: Epiphyseal Dysplasia, Multiple, 6 58 13 74
Multiple Epiphyseal Dysplasia 6 12 54 76 30 6
Edm6 58 12 76
Dysplasia, Epiphyseal, Multiple, Type 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
med is a heterogeneous disorder (see med1 , med2 , med3 , med4 , med5 , and med with diabetes mellitus )


HPO:

33
epiphyseal dysplasia, multiple, 6:
Onset and clinical course childhood onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070301
OMIM 58 614135
MeSH 45 D010009
UMLS 74 C2675767

Summaries for Epiphyseal Dysplasia, Multiple, 6

UniProtKB/Swiss-Prot : 76 Multiple epiphyseal dysplasia 6: 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, 6, is also known as multiple epiphyseal dysplasia 6, and has symptoms including hip pain and knee pain. An important gene associated with Epiphyseal Dysplasia, Multiple, 6 is COL9A1 (Collagen Type IX Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are osteoarthritis and arthralgia

Disease Ontology : 12 A multiple epiphyseal dysplasia due to collagen 9 anomaly that has material basis in heterozygous mutation in the COL9A1 gene on chromosome 6p13.

Description from OMIM: 614135

Related Diseases for Epiphyseal Dysplasia, Multiple, 6

Symptoms & Phenotypes for Epiphyseal Dysplasia, Multiple, 6

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 6:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 osteoarthritis 33 HP:0002758
2 arthralgia 33 HP:0002829
3 epiphyseal dysplasia 33 HP:0002656
4 abnormality of the knee 33 HP:0002815
5 irregular vertebral endplates 33 HP:0003301
6 multiple epiphyseal dysplasia 33 HP:0002654
7 small epiphyses 33 HP:0010585
8 irregular epiphyses 33 HP:0010582
9 flat capital femoral epiphysis 33 HP:0003370
10 arthralgia of the hip 33 HP:0003365
11 irregular distal femoral epiphysis 33 HP:0006407
12 schmorl's node 33 HP:0030041
13 flat distal femoral epiphysis 33 HP:0006398

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
multiple epiphyseal dysplasia
early onset osteoarthritis

Skeletal Pelvis:
hip arthralgia

Skeletal Spine:
schmorl's nodes
endplate irregularities (thoracic-lumbar vertebrae)
anterior osteophytes (thoracic-lumbar vertebrae)

Skeletal Limbs:
knee arthralgia
irregular epiphyses (knee)

Clinical features from OMIM:

614135

UMLS symptoms related to Epiphyseal Dysplasia, Multiple, 6:


hip pain, knee pain

Drugs & Therapeutics for Epiphyseal Dysplasia, Multiple, 6

Search Clinical Trials , NIH Clinical Center for Epiphyseal Dysplasia, Multiple, 6

Genetic Tests for Epiphyseal Dysplasia, Multiple, 6

Genetic tests related to Epiphyseal Dysplasia, Multiple, 6:

# Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia 6 30 COL9A1

Anatomical Context for Epiphyseal Dysplasia, Multiple, 6

MalaCards organs/tissues related to Epiphyseal Dysplasia, Multiple, 6:

42
Bone

Publications for Epiphyseal Dysplasia, Multiple, 6

Articles related to Epiphyseal Dysplasia, Multiple, 6:

# Title Authors Year
1
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. ( 11565064 )
2001

Variations for Epiphyseal Dysplasia, Multiple, 6

ClinVar genetic disease variations for Epiphyseal Dysplasia, Multiple, 6:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL9A1 NM_001851.4(COL9A1): c.876+2dupT duplication Uncertain significance rs672601329 GRCh38 Chromosome 6, 70281388: 70281388
2 COL9A1 NM_001851.4(COL9A1): c.876+2dupT duplication Uncertain significance rs672601329 GRCh37 Chromosome 6, 70991091: 70991091
3 COL9A1 NM_001851.4(COL9A1): c.1634G> A (p.Arg545His) single nucleotide variant Uncertain significance rs145698301 GRCh37 Chromosome 6, 70964697: 70964697
4 COL9A1 NM_001851.4(COL9A1): c.1634G> A (p.Arg545His) single nucleotide variant Uncertain significance rs145698301 GRCh38 Chromosome 6, 70254994: 70254994
5 COL9A1 NM_001851.4(COL9A1): c.876+2T> A single nucleotide variant Uncertain significance rs149830493 GRCh37 Chromosome 6, 70991091: 70991091
6 COL9A1 NM_001851.4(COL9A1): c.876+2T> A single nucleotide variant Uncertain significance rs149830493 GRCh38 Chromosome 6, 70281388: 70281388
7 COL9A1 NM_001851.4(COL9A1): c.353G> A (p.Arg118Gln) single nucleotide variant Uncertain significance rs143848379 GRCh37 Chromosome 6, 71004213: 71004213
8 COL9A1 NM_001851.4(COL9A1): c.353G> A (p.Arg118Gln) single nucleotide variant Uncertain significance rs143848379 GRCh38 Chromosome 6, 70294510: 70294510
9 COL9A1 NM_001851.4(COL9A1): c.626G> A (p.Arg209Lys) single nucleotide variant Uncertain significance rs571441243 GRCh37 Chromosome 6, 71003940: 71003940
10 COL9A1 NM_001851.4(COL9A1): c.626G> A (p.Arg209Lys) single nucleotide variant Uncertain significance rs571441243 GRCh38 Chromosome 6, 70294237: 70294237
11 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh37 Chromosome 12, 48374344: 48374344
12 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh38 Chromosome 12, 47980561: 47980561

Expression for Epiphyseal Dysplasia, Multiple, 6

Search GEO for disease gene expression data for Epiphyseal Dysplasia, Multiple, 6.

Pathways for Epiphyseal Dysplasia, Multiple, 6

GO Terms for Epiphyseal Dysplasia, Multiple, 6

Sources for Epiphyseal Dysplasia, Multiple, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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