MCID: OST062
MIFTS: 33

Osteoarthritis with Mild Chondrodysplasia

Categories: Genetic diseases, Bone diseases, Fetal 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
Osteoarthritis 44

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 osteoarthritis and short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, and has symptoms including angina pectoris, back pain and muscle cramp. 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 platyspondyly and joint stiffness

Description from OMIM: 604864

Related Diseases for Osteoarthritis with Mild Chondrodysplasia

Diseases related to Osteoarthritis with Mild Chondrodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 osteoarthritis 12.7
2 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 12.4
3 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11.9
4 short stature-advanced bone age-early-onset osteoarthritis syndrome 11.9
5 loeys-dietz syndrome 3 11.8
6 familial osteochondritis dissecans 11.8
7 czech dysplasia 11.5
8 arthritis 11.3
9 rheumatoid arthritis 11.3
10 otospondylomegaepiphyseal dysplasia, autosomal recessive 11.3
11 developmental dysplasia of the hip 1 11.3
12 spondylosis 11.2
13 chondrocalcinosis 1 11.1
14 beukes hip dysplasia 11.1
15 cartilage disease 11.1
16 alkaptonuria 11.1
17 spondyloepiphyseal dysplasia tarda, x-linked 11.1
18 ehlers-danlos syndrome 11.1
19 ochronosis 11.1
20 occipital neuralgia 11.1
21 pseudoachondroplasia 10.9
22 otospondylomegaepiphyseal dysplasia, autosomal dominant 10.9
23 diastrophic dysplasia 10.9
24 spondyloepimetaphyseal dysplasia with joint laxity, type 2 10.9
25 digital arthropathy-brachydactyly, familial 10.9
26 angel-shaped phalangoepiphyseal dysplasia 10.7
27 stickler syndrome, type i 10.7
28 endosteal hyperostosis, autosomal dominant 10.7
29 osteomesopyknosis 10.7
30 spondyloepiphyseal dysplasia tarda, autosomal dominant 10.7
31 spondylometaphyseal dysplasia, kozlowski type 10.7
32 desbuquois dysplasia 1 10.7
33 spondyloepimetaphyseal dysplasia, missouri type 10.7
34 epiphyseal dysplasia, multiple, 5 10.7
35 stickler syndrome, type i, nonsyndromic ocular 10.7
36 developmental dysplasia of the hip 2 10.7
37 ehlers-danlos syndrome, classic-like, 2 10.7
38 ocular albinism 10.7
39 central cord syndrome 10.7
40 synovitis 10.4
41 osteoporosis 10.4
42 aging 10.3
43 kashin-beck disease 10.2
44 uruguay faciocardiomusculoskeletal syndrome 10.1
45 psoriatic arthritis 10.1
46 type i 10.1
47 arthropathy 10.0
48 body mass index quantitative trait locus 1 10.0
49 chondrocalcinosis 10.0
50 enthesopathy 10.0

Comorbidity relations with Osteoarthritis with Mild Chondrodysplasia via Phenotypic Disease Network (PDN):


Active Peptic Ulcer Disease Acute Cystitis
Decubitus Ulcer Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypertension, Essential Hypothyroidism
Osteoporosis Schizophreniform Disorder

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 platyspondyly 32 HP:0000926
2 joint stiffness 32 HP:0001387
3 irregular vertebral endplates 32 HP:0003301
4 short stature 32 HP:0004322
5 beaking of vertebral bodies 32 HP:0004568
6 knee osteoarthritis 32 HP:0005086
7 hip osteoarthritis 32 HP:0008843
8 heberden's node 32 HP:0012313
9 schmorl's node 32 HP:0030041

UMLS symptoms related to Osteoarthritis with Mild Chondrodysplasia:


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

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

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

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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