CDPX1
MCID: CHN028
MIFTS: 15

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

Summaries for Chondrodysplasia Punctata 1, X-Linked Recessive

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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, x-linked recessive and chondrodysplasia punctata 1, x-linked. An important gene associated with Chondrodysplasia Punctata 1, X-Linked Recessive is ARSE (arylsulfatase E (chondrodysplasia punctata 1)). Affiliated tissues include bone.

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

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42NIH Rare Diseases, 22GTR, 60UMLS
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Aliases & Descriptions:

chondrodysplasia punctata 1, x-linked recessive 42
chondrodysplasia punctata, brachytelephalangic 42 60
chondrodysplasia punctata 1 x-linked recessive 42 22
chondrodysplasia punctata brachytelephalangic 42
arylsulfatase e deficiency 42
cdpx1 42


Related Diseases for Chondrodysplasia Punctata 1, X-Linked Recessive

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17GeneCards, 18GeneDecks
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Diseases in the Chondrodysplasia Punctata 2, X-Linked family:

Chondrodysplasia Punctata 1, X-Linked chondrodysplasia punctata 1, x-linked recessive
Chondrodysplasia Punctata 2 X-Linked Dominant Chondrodysplasia Punctata, X-Linked Recessive

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, x-linked recessive10.4
2chondrodysplasia punctata 1, x-linked10.3
3chondrodysplasia punctata 2, x-linked10.0

Clinical Features for Chondrodysplasia Punctata 1, X-Linked Recessive

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

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5CenterWatch, 41NIH 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

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32MalaCards
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MalaCards organs/tissues related to Chondrodysplasia Punctata 1, X-Linked Recessive:

32
Bone

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

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Publications for Chondrodysplasia Punctata 1, X-Linked Recessive

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Genetic Variations for Chondrodysplasia Punctata 1, X-Linked Recessive

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

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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chondrodysplasia Punctata 1, X-Linked Recessive

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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