CPXD
MCID: CHN018
MIFTS: 32

Chondrodysplasia Punctata 2, X-Linked (CPXD) malady

Genetic diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases categories
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Summaries for Chondrodysplasia Punctata 2, X-Linked

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Sources:
21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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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 abnormal dentition/dental position/implantation/unerupted/dental ankylosis, sensorineural deafness/hearing loss and abnormal vertebral size/shape. 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:47 302960

GeneReviews summary for x-dcdp

Aliases & Classifications for Chondrodysplasia Punctata 2, X-Linked

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Sources:
19GeneReviews, 20GeneTests, 21Genetics Home Reference, 49Orphanet, 47OMIM, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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 49
conradi-hünermann-happle syndrome 21 49
conradi-hünermann syndrome 19 21
happle syndrome 19 21
cdpx2 21 49
chondrodysplasia punctata, x-linked dominant type 62
chondrodysplasia punctata 2, x-linked dominant 62
chondrodysplasia punctata, x-linked dominant 47
x-linked chondrodysplasia punctata type 2 49
chondrodystrophia calcificans congenita 49
x-linked chondrodysplasia punctata 2 21
cdpxd 49
cpxd 49


External Ids:

ICD10 via Orphanet26 Q77.3
SNOMED-CT via Orphanet59 398719004, 398958000, 66924005
UMLS via Orphanet63 C0263627, C0282102
OMIM47 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

Symptoms for Chondrodysplasia Punctata 2, X-Linked

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

302960

Clinical features from OMIM:

302960

Symptoms:

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

Drugs & Therapeutics for Chondrodysplasia Punctata 2, X-Linked

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata 2, X-Linked

Search NIH Clinical Center for Chondrodysplasia Punctata 2, X-Linked

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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33MalaCards
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MalaCards organs/tissues related to Chondrodysplasia Punctata 2, X-Linked:

33
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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52PubMed
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Articles related to Chondrodysplasia Punctata 2, X-Linked:

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

Variations for Chondrodysplasia Punctata 2, X-Linked

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Chondrodysplasia Punctata 2, X-Linked:

64
id Symbol AA change Variation ID SNP ID
1EBPp.Glu80LysVAR_012105rs28936073
2EBPp.Arg110GlnVAR_012106
3EBPp.Arg147GlyVAR_012107
4EBPp.Arg147HisVAR_012108rs28935174

Clinvar genetic disease variations for Chondrodysplasia Punctata 2, X-Linked:

1
id Gene Name Type Significance SNP ID Assembly Location
1EBPNM_006579.2(EBP): c.87G> A (p.Trp29Ter)single nucleotide variantPathogenicrs104894798GRCh37Chr X, 48382246: 48382246
2EBPNM_006579.2(EBP): c.187C> T (p.Arg63Ter)single nucleotide variantPathogenicrs104894799GRCh37Chr X, 48382346: 48382346
3EBPNM_006579.2(EBP): c.238G> A (p.Glu80Lys)single nucleotide variantPathogenicrs104894800GRCh37Chr X, 48382397: 48382397
4EBPEBP, IVS3, G-T, +1single nucleotide variantPathogenic
5EBPEBP, 1-BP DEL, 390AdeletionPathogenic
6EBPEBP, 1-BP INS, 586AinsertionPathogenic
7EBPNM_006579.2(EBP): c.386G> A (p.Trp129Ter)single nucleotide variantPathogenicrs104894792GRCh37Chr X, 48385590: 48385590
8EBPNM_006579.2(EBP): c.523C> T (p.Gln175Ter)single nucleotide variantPathogenicrs104894793GRCh37Chr X, 48386675: 48386675
9EBPNM_006579.2(EBP): c.587G> A (p.Trp196Ter)single nucleotide variantPathogenicrs104894794GRCh37Chr X, 48386739: 48386739
10EBPNM_006579.2(EBP): c.440G> A (p.Arg147His)single nucleotide variantPathogenicrs28935174GRCh37Chr X, 48385644: 48385644

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

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

Search GEO for disease gene expression data for Chondrodysplasia Punctata 2, X-Linked.

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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet