OSCDP
MCID: OST062
MIFTS: 30

Osteoarthritis with Mild Chondrodysplasia (OSCDP)

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

Aliases & Classifications for Osteoarthritis with Mild Chondrodysplasia

MalaCards integrated aliases for Osteoarthritis with Mild Chondrodysplasia:

Name: Osteoarthritis with Mild Chondrodysplasia 57 75 37 29 13 6
Namaqualand Hip Dysplasia 57 75
Oscdp 57 75
Nhd 57 75
Mild Spondyloepiphyseal Dysplasia Due to Col2a1 Mutation with Early-Onset Osteoarthritis 59
Osteoarthritis, with Mild Chondrodysplasia 40
Namaqualand Hip Dysplasia; Nhd 57
Degenerative Polyarthritis 73

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of osteoarthritis in teens to early adulthood


HPO:

32
osteoarthritis with mild chondrodysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 604864
Orphanet 59 ORPHA93279
ICD10 via Orphanet 34 Q77.7
MedGen 42 C1858079
KEGG 37 H00445
UMLS 73 C0029408

Summaries for Osteoarthritis with Mild Chondrodysplasia

UniProtKB/Swiss-Prot : 75 Osteoarthritis with mild chondrodysplasia: Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage.

MalaCards based summary : Osteoarthritis with Mild Chondrodysplasia, also known as namaqualand hip dysplasia, is related to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and epiphyseal dysplasia, multiple, with myopia and conductive deafness, and has symptoms including tremor, angina pectoris and back pain. An important gene associated with Osteoarthritis with Mild Chondrodysplasia is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are joint stiffness and beaking of vertebral bodies

Description from OMIM: 604864

Related Diseases for Osteoarthritis with Mild Chondrodysplasia

Graphical network of the top 20 diseases related to Osteoarthritis with Mild Chondrodysplasia:



Diseases related to Osteoarthritis with Mild Chondrodysplasia

Symptoms & Phenotypes for Osteoarthritis with Mild Chondrodysplasia

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
joint stiffness
osteoarthritis (hips, knees, shoulders, wrists, hands)

Growth Height:
decreased height compared to unaffected siblings

Skeletal Spine:
mild platyspondyly
irregular endplates
schmorl's nodes
anterior wedging

Skeletal Hands:
enlarged mcp joints
enlarged pip and dip joints
heberden's nodes


Clinical features from OMIM:

604864

Human phenotypes related to Osteoarthritis with Mild Chondrodysplasia:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 joint stiffness 32 HP:0001387
2 beaking of vertebral bodies 32 HP:0004568
3 short stature 32 HP:0004322
4 platyspondyly 32 HP:0000926
5 irregular vertebral endplates 32 HP:0003301
6 hip osteoarthritis 32 HP:0008843
7 knee osteoarthritis 32 HP:0005086
8 heberden's node 32 HP:0012313
9 schmorl's node 32 HP:0030041

UMLS symptoms related to Osteoarthritis with Mild Chondrodysplasia:


tremor, angina pectoris, back pain, sciatica, equilibration disorder, muscle cramp

Drugs & Therapeutics for Osteoarthritis with Mild Chondrodysplasia

Genetic Tests for Osteoarthritis with Mild Chondrodysplasia

Genetic tests related to Osteoarthritis with Mild Chondrodysplasia:

# Genetic test Affiliating Genes
1 Osteoarthritis with Mild Chondrodysplasia 29 COL2A1

Anatomical Context for Osteoarthritis with Mild Chondrodysplasia

MalaCards organs/tissues related to Osteoarthritis with Mild Chondrodysplasia:

41
Bone

Publications for Osteoarthritis with Mild Chondrodysplasia

Articles related to Osteoarthritis with Mild Chondrodysplasia:

# Title Authors Year
1
Namaqualand hip dysplasia. Orthopedic implications. ( 3568474 )
1987
2
Namaqualand hip dysplasia: an autosomal dominant entity. ( 6496567 )
1984

Variations for Osteoarthritis with Mild Chondrodysplasia

UniProtKB/Swiss-Prot genetic disease variations for Osteoarthritis with Mild Chondrodysplasia:

75
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Arg719Cys VAR_001748 rs121912865

ClinVar genetic disease variations for Osteoarthritis with Mild Chondrodysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.2155C> T (p.Arg719Cys) single nucleotide variant Pathogenic rs121912865 GRCh37 Chromosome 12, 48376669: 48376669
2 COL2A1 NM_001844.4(COL2A1): c.2155C> T (p.Arg719Cys) single nucleotide variant Pathogenic rs121912865 GRCh38 Chromosome 12, 47982886: 47982886
3 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh37 Chromosome 12, 48374344: 48374344
4 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh38 Chromosome 12, 47980561: 47980561

Expression for Osteoarthritis with Mild Chondrodysplasia

Search GEO for disease gene expression data for Osteoarthritis with Mild Chondrodysplasia.

Pathways for Osteoarthritis with Mild Chondrodysplasia

GO Terms for Osteoarthritis with Mild Chondrodysplasia

Sources for Osteoarthritis with Mild Chondrodysplasia

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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