CDPX1
MCID: CHN028
MIFTS: 14

Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1) malady

Summaries for Chondrodysplasia Punctata 1, X-Linked Recessive

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Chondrodysplasia punctata 1, x-linked recessive (cdpx1) is a genetic disorder present from birth that affects bone and cartilage development. on x-ray, affected infants have characteristic spots at the ends of their bones. these spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between age 2 and 3. additional common features of cdpx1 are shortened fingers and a flat nose. some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and delayed intellectual development. cdpx1 is caused by changes in the arse gene, which is located on the x chromosome. this condition is inherited in an x-linked recessive manner and occurs almost exclusively in males. most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening. last updated: 4/22/2009

MalaCards: Chondrodysplasia Punctata 1, X-Linked Recessive, also known as chondrodysplasia punctata, brachytelephalangic, is related to chondrodysplasia punctata 1, x-linked and chondrodysplasia. An important gene associated with Chondrodysplasia Punctata 1, X-Linked Recessive is ARSE (arylsulfatase E (chondrodysplasia punctata 1)).

Aliases & Classifications for Chondrodysplasia Punctata 1, X-Linked Recessive

Sources:
43NIH Rare Diseases, 22GTR, 61UMLS
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Aliases & Descriptions:

chondrodysplasia punctata 1, x-linked recessive 43
chondrodysplasia punctata, brachytelephalangic 43 61
chondrodysplasia punctata 1 x-linked recessive 43 22
chondrodysplasia punctata brachytelephalangic 43
arylsulfatase e deficiency 43
cdpx1 43


Related Diseases for Chondrodysplasia Punctata 1, X-Linked Recessive

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17GeneCards, 18GeneDecks
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Diseases related to Chondrodysplasia Punctata 1, X-Linked Recessive via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata 1, x-linked10.4
2chondrodysplasia10.2
3chondrodysplasia punctata, x-linked recessive10.2
4chondrodysplasia punctata 2, x-linked10.0
5chondrodysplasia punctata syndrome10.0

Graphical network of diseases related to Chondrodysplasia Punctata 1, X-Linked Recessive:



Diseases related to chondrodysplasia punctata 1, x-linked recessive

Clinical Features for Chondrodysplasia Punctata 1, X-Linked Recessive

Drugs & Therapeutics for Chondrodysplasia Punctata 1, X-Linked Recessive

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Chondrodysplasia Punctata 1, X-Linked Recessive

Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata 1, X-Linked Recessive

Search NIH Clinical Center for Chondrodysplasia Punctata 1, X-Linked Recessive

Search CenterWatch for Chondrodysplasia Punctata 1, X-Linked Recessive

Genetic Tests for Chondrodysplasia Punctata 1, X-Linked Recessive

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22GTR
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Genetic tests related to Chondrodysplasia Punctata 1, X-Linked Recessive:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 1, X-linked Recessive22

Anatomical Context for Chondrodysplasia Punctata 1, X-Linked Recessive

Animal Models for Chondrodysplasia Punctata 1, X-Linked Recessive or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Chondrodysplasia Punctata 1, X-Linked Recessive

Genetic Variations for Chondrodysplasia Punctata 1, X-Linked Recessive

Expression for genes affiliated with Chondrodysplasia Punctata 1, X-Linked Recessive

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chondrodysplasia Punctata 1, X-Linked Recessive

Search GEO for disease gene expression data for Chondrodysplasia Punctata 1, X-Linked Recessive.

Pathways for genes affiliated with Chondrodysplasia Punctata 1, X-Linked Recessive

Compounds for genes affiliated with Chondrodysplasia Punctata 1, X-Linked Recessive

GO Terms for genes affiliated with Chondrodysplasia Punctata 1, X-Linked Recessive

Products for genes affiliated with Chondrodysplasia Punctata 1, X-Linked Recessive

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chondrodysplasia Punctata 1, X-Linked Recessive

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet