CDPX2
MCID: CHN018
MIFTS: 24

Chondrodysplasia Punctata 2, X-Linked (CDPX2) malady

Eye, Bone, Skin, Metabolic, Fetal categories

Summaries for Chondrodysplasia Punctata 2, X-Linked

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 ptosis, epicanthic folds and kyphosis. An important gene associated with Chondrodysplasia Punctata 2, X-Linked is EBP (emopamil binding protein (sterol isomerase)). Affiliated tissues include skin.

Description from OMIM:47 302960

GeneReviews summary for x-dcdp

Aliases & Classifications for Chondrodysplasia Punctata 2, X-Linked

Sources:
19GeneReviews, 20GeneTests, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Bone, Skin, Metabolic


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
happle syndrome 19 21
cdpx2 21 49
chondrodysplasia punctata, x-linked dominant type 61
chondrodysplasia punctata 2, x-linked dominant 61
chondrodysplasia punctata, x-linked dominant 47
chondrodystrophia calcificans congenita 49
x-linked chondrodysplasia punctata 2 21
conradi-h�nermann-happle syndrome 21
conradi-hünermann-happle syndrome 49
conradi-h�nermann syndrome 21
conradi-hünermann syndrome 19


External Ids:

ICD10 via Orphanet26 Q77.3
SNOMED-CT via Orphanet58 398719004, 398958000, 66924005
UMLS via Orphanet62 C0263627, C0282102
OMIM47 302960

Related Diseases for Chondrodysplasia Punctata 2, X-Linked

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Chondrodysplasia Punctata 2, X-Linked via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata 2 x-linked dominant10.7
2dyskeratosis congenita10.4
3ichthyosis, follicular10.4
4short syndrome10.2
53-m syndrome10.1
6char syndrome10.1
7atypical mole syndrome10.1
8short stature10.1
9smith-lemli-opitz syndrome10.0

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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

302960

Clinical synopsis from OMIM:

302960

Symptoms:

49 (show all 28)
  • ptosis
  • 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
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • microcornea
  • cataract/lens opacification
  • 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

Drugs & Therapeutics for Chondrodysplasia Punctata 2, X-Linked

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

Search CenterWatch for Chondrodysplasia Punctata 2, X-Linked

Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata 2, X-Linked

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

Search CenterWatch for Chondrodysplasia Punctata 2, X-Linked

Genetic Tests for Chondrodysplasia Punctata 2, X-Linked

Sources:
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

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

33
Skin

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

Sources:
28inGenious Targeting Laboratory
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Publications for Chondrodysplasia Punctata 2, X-Linked

Genetic Variations for Chondrodysplasia Punctata 2, X-Linked

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Chondrodysplasia Punctata 2, X-Linked:

63
id Symbol AA change Variation SNP ID
1EBPp.Glu80LysVAR_012105rs28936073
2EBPp.Arg110GlnVAR_012106
3EBPp.Arg147GlyVAR_012107
4EBPp.Arg147HisVAR_012108rs28935174

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

Sources:
1BioGPS, 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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chondrodysplasia Punctata 2, X-Linked

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