MCID: CHN018
MIFTS: 26

Chondrodysplasia Punctata 2, X-Linked malady

Categories: Genetic diseases, Eye diseases, Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Chondrodysplasia Punctata 2, X-Linked

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Sources:
51Orphanet, 65UMLS, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Chondrodysplasia Punctata 2, X-Linked:

Name: Chondrodysplasia Punctata 2, X-Linked 21 22 23
Happle Syndrome 21 22 23
Cdpx2 22 23 51
X-Linked Dominant Chondrodysplasia Punctata 23 51
Conradi-Hünermann-Happle Syndrome 23 51
Conradi-Hünermann Syndrome 21 23
Chondrodysplasia Punctata, X-Linked Dominant Type 65
 
X-Linked Chondrodysplasia Punctata Type 2 51
Chondrodystrophia Calcificans Congenita 51
X-Linked Chondrodysplasia Punctata 2 23
Conradi-Hunermann Syndrome 22
Chondrodysplasia Punctata 65
Cdpxd 51
Cpxd 51

Characteristics:

Orphanet epidemiological data:

51
cdpx2:
Inheritance: X-linked dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 35173
ICD10 via Orphanet28 Q77.3
UMLS via Orphanet66 C0263627, C0282102
UMLS65 C0282102

Summaries for Chondrodysplasia Punctata 2, X-Linked

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Genetics Home Reference:23 X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.

MalaCards based summary: Chondrodysplasia Punctata 2, X-Linked, also known as happle syndrome, is related to chondrodysplasia punctata, x-linked dominant and x-linked chondrodysplasia punctata, 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 bone, skin and eye.

GeneReviews summary for NBK55062

Related Diseases for Chondrodysplasia Punctata 2, X-Linked

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Diseases in the X-Linked Chondrodysplasia Punctata family:

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

Diseases related to Chondrodysplasia Punctata 2, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata, x-linked dominant11.9
2x-linked chondrodysplasia punctata11.3
3chondrodysplasia punctata10.2

Symptoms for Chondrodysplasia Punctata 2, X-Linked

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Symptoms:

 51 (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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Novel Treatment for Syndromic IchthyosesWithdrawnNCT01110642Phase 2

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

Genetic Tests for Chondrodysplasia Punctata 2, X-Linked

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

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 2, X-Linked22 EBP

Anatomical Context for Chondrodysplasia Punctata 2, X-Linked

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

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

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Sources for Chondrodysplasia Punctata 2, X-Linked

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet