CPXD
MCID: CHN018
MIFTS: 34

Chondrodysplasia Punctata 2, X-Linked (CPXD) malady

Eye diseases, Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases categories

Summaries for Chondrodysplasia Punctata 2, X-Linked

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21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.

MalaCards: Chondrodysplasia Punctata 2, X-Linked, also known as x-linked dominant chondrodysplasia punctata, is related to chondrodysplasia punctata 2 x-linked dominant and dyskeratosis congenita, and has symptoms including talipes-varus/metatarsal varus, anophthalmos/anophthalmia/microphthalmos/microphthalmia and rhizomelic micromelia. An important gene associated with Chondrodysplasia Punctata 2, X-Linked is EBP (emopamil binding protein (sterol isomerase)). Affiliated tissues include bone, skin and eye.

Description from OMIM:46 302960

GeneReviews summary for x-dcdp

Aliases & Classifications for Chondrodysplasia Punctata 2, X-Linked

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Sources:
19GeneReviews, 20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
x-linked dominant chondrodysplasia punctata:
Inheritance: X-linked dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

chondrodysplasia punctata 2, x-linked 19 20 21
x-linked dominant chondrodysplasia punctata 21 48
conradi-hünermann-happle syndrome 21 48
conradi-hünermann syndrome 19 21
happle syndrome 19 21
cdpx2 21 48
chondrodysplasia punctata, x-linked dominant type 60
chondrodysplasia punctata 2, x-linked dominant 60
chondrodysplasia punctata, x-linked dominant 46
x-linked chondrodysplasia punctata type 2 48
chondrodystrophia calcificans congenita 48
x-linked chondrodysplasia punctata 2 21
cdpxd 48
cpxd 48


External Ids:

ICD10 via Orphanet26 Q77.3
SNOMED-CT via Orphanet57 398719004, 398958000, 66924005
UMLS via Orphanet61 C0263627, C0282102
OMIM46 302960

Related Diseases for Chondrodysplasia Punctata 2, X-Linked

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Chondrodysplasia Punctata 2, X-Linked:



Diseases related to chondrodysplasia punctata 2, x-linked

Clinical Features for Chondrodysplasia Punctata 2, X-Linked

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46OMIM, 48Orphanet
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Clinical features from OMIM:

302960

Clinical synopsis from OMIM:

302960

Symptoms:

48 (show all 28)
  • talipes-varus/metatarsal varus
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • rhizomelic micromelia
  • clinodactyly of fifth finger
  • skin hypoplasia/aplasia/atrophy
  • polydactyly of toes
  • decreased body hair/axillar/pubic hairlessness
  • microcornea
  • upper limb asymmetry/hemiatrophy/hemihypertrophy
  • dysplastic/thick/grooved fingernails
  • brittle hair/distrix/trichorrhexis
  • flat face
  • epicanthic folds
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • flat cheek bones/malar hypoplasia
  • epiphyseal anomaly
  • joint/articular deformation
  • ptosis
  • kyphosis
  • cataract/lens opacification
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • abnormal vertebral size/shape
  • ichthyosis/ichthyosiform dermatitis
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • sensorineural deafness/hearing loss
  • short stature/dwarfism/nanism
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Chondrodysplasia Punctata 2, X-Linked

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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 NIH Clinical Center for Chondrodysplasia Punctata 2, X-Linked

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Genetic Tests for Chondrodysplasia Punctata 2, X-Linked

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20GeneTests
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Genetic tests related to Chondrodysplasia Punctata 2, X-Linked:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 2, X-Linked20 EBP

Anatomical Context for Chondrodysplasia Punctata 2, X-Linked

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32MalaCards
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MalaCards organs/tissues related to Chondrodysplasia Punctata 2, X-Linked:

32
Bone, Skin, Eye

Animal Models for Chondrodysplasia Punctata 2, X-Linked or affiliated genes

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Publications for Chondrodysplasia Punctata 2, X-Linked

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50PubMed
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Articles related to Chondrodysplasia Punctata 2, X-Linked:

idTitleAuthorsYear
1
Chondrodysplasia Punctata 2, X-Linked (21634086)
1993

Genetic Variations for Chondrodysplasia Punctata 2, X-Linked

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Chondrodysplasia Punctata 2, X-Linked:

62
id Symbol AA change Variation ID SNP ID
1EBPp.Glu80LysVAR_012105rs28936073
2EBPp.Arg110GlnVAR_012106
3EBPp.Arg147GlyVAR_012107
4EBPp.Arg147HisVAR_012108rs28935174

Expression for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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Pathways for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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Compounds for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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GO Terms for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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Products for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chondrodysplasia Punctata 2, X-Linked

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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