MCID: CHN015
MIFTS: 33

Chondrodysplasia malady

Summaries for Chondrodysplasia

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63Wikipedia, 32MalaCards
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Wikipedia:63 Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone... more...

MalaCards: Chondrodysplasia is related to rhizomelic chondrodysplasia punctata and chondrodysplasia punctata syndrome. An important gene associated with Chondrodysplasia is EBP (emopamil binding protein (sterol isomerase)), and among its related pathways are Endochondral Ossification and Non-integrin membrane-ECM interactions. The compounds nkh 477 and mdl 12330a hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and mortality/aging.

Aliases & Classifications for Chondrodysplasia

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42NIH Rare Diseases
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Aliases & Descriptions:

chondrodysplasia 42


Related Diseases for Chondrodysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Chondrodysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 232)
idRelated DiseaseScoreTop Affiliating Genes
1rhizomelic chondrodysplasia punctata31.1PHYH, AGPS, PEX7, GNPAT
2chondrodysplasia punctata syndrome30.3EBP, ARSE, GNPAT
3osteoarthritis30.3COL2A1, MATN1, GDF5, COL10A1
4chondrodysplasia punctata 2 x-linked dominant30.3EBP, GNPAT
5dwarfism30.2PTH1R, COL2A1
6metaphyseal dysplasia30.2COL10A1, COL2A1, PTH1R
7zellweger syndrome30.2PEX7
8multiple epiphyseal dysplasia30.2SLC26A2
9diastrophic dysplasia30.2SLC26A2, COL2A1
10brachydactyly30.1COL2A1, GDF5, IMPAD1
11refsum disease30.0GNPAT, PHYH, PEX7
12adrenoleukodystrophy29.9PEX26, GNPAT
13osteochondrodysplasia29.9PTH1R, SLC26A2
14spondyloepimetaphyseal dysplasia, strudwick type29.6COL2A1, COL10A1
15achondrogenesis29.6SLC26A2
16schmid metaphyseal chondrodysplasia10.6
17jansen's metaphyseal chondrodysplasia10.5
18rhizomelic chondrodysplasia punctata type 110.5
19chondrodysplasia punctata 2, x-linked10.4
20cartilage-hair hypoplasia10.4
21rhizomelic chondrodysplasia punctata type 210.4
22chondrodysplasia punctata 1, x-linked10.4
23rhizomelic chondrodysplasia punctata, type 310.4
24acromesomelic dysplasia, grebe type10.3
25chondrodysplasia blomstrand type10.3
26metaphyseal chondrodysplasia spahr type10.3
27cervicitis10.3
28chondrodysplasia punctata 1, x-linked recessive10.3
29chondrodysplasia punctata, x-linked recessive10.2
30x-linked ichthyosis10.2
31weissenbacher-zweymuller syndrome10.2
32otospondylomegaepiphyseal dysplasia10.1
33cataract10.1
34lupus erythematosus10.1
35atelosteogenesis type 110.1
36lethal chondrodysplasia seller type10.1
37chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia10.1
38autosomal dominant chondrodysplasia punctata10.1
39spondyloepiphyseal dysplasia with congenital joint dislocations10.1
40metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands10.1
41lethal chondrodysplasia moerman type10.1
42chondrodysplasia with joint dislocations, grapp type10.1
43osteoarthritis with mild chondrodysplasia10.1
44leukoencephalopathy with metaphyseal chondrodysplasia10.1
45chondrodysplasia - disorder of sex development10.1
46chondrodysplasia punctata, tibial-metacarpal type10.1
47chondrodysplasia punctata, toriello type10.1
48systemic lupus erythematosus10.0
49kallmann syndrome10.0
50rickets10.0

Graphical network of the top 20 diseases related to Chondrodysplasia:



Diseases related to chondrodysplasia

Clinical Features for Chondrodysplasia

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Drugs & Therapeutics for Chondrodysplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Chondrodysplasia

Genetic Tests for Chondrodysplasia

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Anatomical Context for Chondrodysplasia

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32MalaCards
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MalaCards organs/tissues related to Chondrodysplasia:

32
Bone

Animal Models for Chondrodysplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Chondrodysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.4COL10A1, PTH1R, SLC26A2, HOXC8, GDF5, IMPAD1
2MP:001076810.4COL10A1, COL2A1, GNPAT, PEX7, PTH1R, SLC26A2
3MP:000539010.3IMPAD1, GDF5, HOXC8, SLC26A2, PTH1R, PEX7
4MP:000537810.1PEX7, COL10A1, PHYH, EBP, IMPAD1, GDF5

Publications for Chondrodysplasia

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Genetic Variations for Chondrodysplasia

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Expression for genes affiliated with Chondrodysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chondrodysplasia

Search GEO for disease gene expression data for Chondrodysplasia.

Pathways for genes affiliated with Chondrodysplasia

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37NCBI BioSystems Database, 53Reactome, 29KEGG, 51QIAGEN, 12EMD Millipore, 49PharmGKB
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Pathways related to Chondrodysplasia according to GeneCards/GeneDecks:

(show all 33)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5PTH1R, COL2A1, COL10A1
2
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10.5COL2A1, COL10A1
310.5GNPAT, AGPS
410.5GNPAT, PHYH, AGPS
5
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10.5GNPAT, PHYH, ARSE, AGPS, EBP, IMPAD1
610.5PEX26, PEX7, AGPS, PHYH, GNPAT
7
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10.5GDF5, MATN1, COL2A1, COL10A1
8
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10.5ADCY6, ADCY4
910.4ADCY7, ADCY6, ADCY4
10
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
10.4ADCY7, ADCY6, ADCY4
1110.4ADCY7, ADCY6, ADCY4
12
Signal transduction cAMP signaling
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10.4ADCY7, ADCY6, ADCY4
13
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10.4ADCY7, ADCY6, ADCY4
14
G-protein signaling G-Protein alpha-i signaling cascades
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10.4ADCY7, ADCY6, ADCY4
1510.4ADCY7, ADCY6, ADCY4
16
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10.4ADCY7, ADCY6, ADCY4
1710.4ADCY7, ADCY6, ADCY4
18
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10.4PTH1R, ADCY7, ADCY6, ADCY4
1910.4ADCY7, ADCY6, ADCY4
2010.4ADCY4, ADCY6, ADCY7
21
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10.4ADCY4, ADCY6, ADCY7
2210.4ADCY4, ADCY6, ADCY7
23
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10.4ADCY4, ADCY6, ADCY7
2410.4ADCY4, ADCY6, ADCY7
2510.4ADCY4, ADCY6, ADCY7
26
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10.4ADCY4, ADCY6, ADCY7
27
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10.4ADCY4, ADCY6, ADCY7
2810.4ADCY4, ADCY6, ADCY7
29
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10.4ADCY4, ADCY6, ADCY7
30
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10.4COL10A1, COL2A1, ADCY7, ADCY6, ADCY4
31
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10.4ADCY4, ADCY6, ADCY7, COL2A1
32
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10.4COL10A1, COL2A1, GDF5, ADCY7, ADCY6, ADCY4
33
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10.4COL10A1, COL2A1, GDF5, ADCY7, ADCY6, ADCY4

Compounds for genes affiliated with Chondrodysplasia

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59Tocris Bioscience, 44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Chondrodysplasia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1nkh 4775910.7ADCY4, ADCY7, ADCY6
2mdl 12330a hydrochloride5910.7ADCY7, ADCY6, ADCY4
3pacap 1-275910.7ADCY7, ADCY6, ADCY4
4kh 75910.7ADCY7, ADCY6, ADCY4
5sq 2253659 4411.6ADCY7, ADCY6, ADCY4
6dhap4410.6AGPS, GNPAT
7Pyruvic acid11 2411.6ADCY4, ADCY6, ADCY7
8pyrophosphate44 2411.5COL2A1, ADCY7, ADCY6, ADCY4
9phytanic acid4410.5PHYH, GNPAT
10fatty acid4410.5PEX7, AGPS, PHYH, GNPAT
11glycosaminoglycan4410.5COL2A1, MATN1, GDF5
12calcium44 49 11 2413.3COL2A1, ARSE, MATN1, EBP, PTH1R, ADCY7
13sulfate44 2411.2COL2A1, ARSE, SLC26A2

GO Terms for genes affiliated with Chondrodysplasia

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16Gene Ontology
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Cellular components related to Chondrodysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal matrixGO:00578210.5PEX7, AGPS, PHYH, GNPAT
2peroxisomeGO:00577710.2PEX26, PEX7, AGPS, PHYH, GNPAT

Biological processes related to Chondrodysplasia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1ether lipid biosynthetic processGO:00861110.8PEX7, AGPS, GNPAT
2skeletal system developmentGO:00150110.8COL10A1, COL2A1, ARSE, EBP, PTH1R
3adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00718910.7ADCY4, ADCY6, ADCY7, PTH1R
4endochondral ossificationGO:00195810.7PEX7, IMPAD1, COL2A1
5activation of protein kinase A activityGO:03419910.7ADCY7, ADCY6, ADCY4
6small molecule metabolic processGO:04428110.7GNPAT, PHYH, ARSE, AGPS, EBP, SLC26A2
7cellular response to glucagon stimulusGO:07137710.7ADCY7, ADCY6, ADCY4
8water transportGO:00683310.6ADCY4, ADCY6, ADCY7
9adenylate cyclase-inhibiting G-protein coupled receptor signaling pathwayGO:00719310.6ADCY7, ADCY6, ADCY4
10activation of phospholipase C activityGO:00720210.6ADCY4, ADCY6, ADCY7
11protein import into peroxisome matrixGO:01655810.6PEX7, PEX26
12cAMP biosynthetic processGO:00617110.5ADCY6, ADCY4
13extracellular matrix organizationGO:03019810.5GDF5, MATN1, COL2A1, COL10A1
14fibroblast growth factor receptor signaling pathwayGO:00854310.4ADCY4, ADCY6, ADCY7
15energy reserve metabolic processGO:00611210.3ADCY7, ADCY6, ADCY4
16cellular lipid metabolic processGO:04425510.2AGPS, PHYH, GNPAT

Molecular functions related to Chondrodysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metal ion bindingGO:04687210.4COL2A1, PHYH, ARSE, IMPAD1, ADCY7, ADCY6
2adenylate cyclase activityGO:00401610.1ADCY4, ADCY6, ADCY7

Products for genes affiliated with Chondrodysplasia

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Sources for Chondrodysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet