EDM6
MCID: EPP009
MIFTS: 21

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 57 13 73
Multiple Epiphyseal Dysplasia 6 12 53 75 29 6
Edm6 57 12 75
Dysplasia, Epiphyseal, Multiple, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epiphyseal dysplasia, multiple, 6:
Onset and clinical course childhood onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614135
Disease Ontology 12 DOID:0070301
MeSH 44 D010009
UMLS 73 C2675767

Summaries for Epiphyseal Dysplasia, Multiple, 6

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Epiphyseal Dysplasia, Multiple, 6:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 osteoarthritis 32 HP:0002758
2 arthralgia 32 HP:0002829
3 epiphyseal dysplasia 32 HP:0002656
4 abnormality of the knee 32 HP:0002815
5 irregular vertebral endplates 32 HP:0003301
6 multiple epiphyseal dysplasia 32 HP:0002654
7 small epiphyses 32 HP:0010585
8 irregular epiphyses 32 HP:0010582
9 flat capital femoral epiphysis 32 HP:0003370
10 arthralgia of the hip 32 HP:0003365
11 irregular distal femoral epiphysis 32 HP:0006407
12 schmorl's node 32 HP:0030041
13 flat distal femoral epiphysis 32 HP:0006398

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 29 COL9A1

Anatomical Context for Epiphyseal Dysplasia, Multiple, 6

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

41
Bone

Publications for Epiphyseal Dysplasia, Multiple, 6

Variations for Epiphyseal Dysplasia, Multiple, 6

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

6
# 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.876+2T> A single nucleotide variant Uncertain significance rs149830493 GRCh37 Chromosome 6, 70991091: 70991091
4 COL9A1 NM_001851.4(COL9A1): c.876+2T> A single nucleotide variant Uncertain significance rs149830493 GRCh38 Chromosome 6, 70281388: 70281388
5 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh37 Chromosome 12, 48374344: 48374344
6 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 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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