Chondrodysplasia Punctata 2, X-Linked malady

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

Aliases & Classifications for Chondrodysplasia Punctata 2, X-Linked

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21GeneReviews, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
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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
Cdpxd 51
Cpxd 51


Characteristics (Orphanet epidemiological data):

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

External Ids:

Orphanet51 35173
ICD10 via Orphanet28 Q77.3
UMLS via Orphanet66 C0263627, 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 skin, bone and eye.

GeneReviews summary for x-dcdp

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 dominant10.8
2x-linked chondrodysplasia punctata10.5
3incontinentia pigmenti10.4
4dyskeratosis congenita10.4
5peroxisome disorders10.4
6chondrodysplasia punctata10.4
9greenberg skeletal dysplasia10.1
10smith-lemli-opitz syndrome10.1

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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 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:

Skin, Bone, 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:

Chondrodysplasia Punctata 2, X-Linked (21634086)

Variations for Chondrodysplasia Punctata 2, X-Linked

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

5 (show all 37)
id Gene Variation 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, IVS3DS, 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
11EBPNM_006579.2(EBP): c.141G> T (p.Trp47Cys)single nucleotide variantPathogenicrs587783599GRCh37Chr X, 48382300: 48382300
12EBPNM_006579.2(EBP): c.182G> A (p.Trp61Ter)single nucleotide variantPathogenicrs587783600GRCh37Chr X, 48382341: 48382341
13EBPNM_006579.2(EBP): c.204G> T (p.Trp68Cys)single nucleotide variantLikely pathogenicrs587783601GRCh37Chr X, 48382363: 48382363
14EBPNM_006579.2(EBP): c.214T> C (p.Cys72Arg)single nucleotide variantLikely pathogenicrs587783602GRCh37Chr X, 48382373: 48382373
15EBPNM_006579.2(EBP): c.218G> A (p.Gly73Glu)single nucleotide variantLikely pathogenicrs587783603GRCh37Chr X, 48382377: 48382377
16EBPNM_006579.2(EBP): c.292_296delTCTCA (p.Ser98Thrfs)deletionPathogenicrs587783604GRCh37Chr X, 48382451: 48382455
17EBPNM_006579.2(EBP): c.299T> C (p.Leu100Pro)single nucleotide variantLikely pathogenicrs587783605GRCh37Chr X, 48382458: 48382458
18EBPNM_006579.2(EBP): c.301+2T> Asingle nucleotide variantPathogenicrs587783606GRCh37Chr X, 48382462: 48382462
19EBPNM_006579.2(EBP): c.303G> T (p.Trp101Cys)single nucleotide variantLikely pathogenicrs587783607GRCh37Chr X, 48385378: 48385378
20EBPNM_006579.2(EBP): c.304A> T (p.Lys102Ter)single nucleotide variantPathogenicrs587783608GRCh37Chr X, 48385379: 48385379
21EBPNM_006579.2(EBP): c.310T> C (p.Tyr104His)single nucleotide variantPathogenicrs587783609GRCh37Chr X, 48385385: 48385385
22EBPNM_006579.2(EBP): c.311A> G (p.Tyr104Cys)single nucleotide variantLikely pathogenicrs587783610GRCh37Chr X, 48385386: 48385386
23EBPNM_006579.2(EBP): c.314C> A (p.Ala105Asp)single nucleotide variantLikely pathogenicrs587783611GRCh37Chr X, 48385389: 48385389
24EBPNM_006579.2(EBP): c.320G> A (p.Gly107Glu)single nucleotide variantLikely pathogenicrs587783612GRCh37Chr X, 48385395: 48385395
25EBPNM_006579.2(EBP): c.328C> T (p.Arg110Ter)single nucleotide variantPathogenicrs587783613GRCh37Chr X, 48385403: 48385403
26EBPNM_006579.2(EBP): c.331T> C (p.Tyr111His)single nucleotide variantLikely pathogenicrs587783614GRCh37Chr X, 48385406: 48385406
27EBPNM_006579.2(EBP): c.464_465delCT (p.Ser155Cysfs)deletionPathogenicrs587783615GRCh37Chr X, 48385668: 48385669
28EBPNM_006579.2(EBP): c.480T> G (p.Tyr160Ter)single nucleotide variantPathogenicrs587783616GRCh37Chr X, 48386632: 48386632
29EBPNM_006579.2(EBP): c.481G> A (p.Gly161Arg)single nucleotide variantLikely pathogenicrs587783617GRCh37Chr X, 48386633: 48386633
30EBPNM_006579.2(EBP): c.527A> G (p.His176Arg)single nucleotide variantLikely pathogenicrs587783618GRCh37Chr X, 48386679: 48386679
31EBPNM_006579.2(EBP): c.632T> G (p.Leu211Arg)single nucleotide variantLikely pathogenicrs587783619GRCh37Chr X, 48386784: 48386784
32EBPNM_006579.2(EBP): c.201_203dupCTG (p.Cys67_Trp68insCys)duplicationLikely pathogenicrs797045542GRCh37Chr X, 48382360: 48382362
33EBPNM_006579.2(EBP): c.225dupT (p.His76Serfs)duplicationPathogenicrs797045543GRCh37Chr X, 48382384: 48382384
34EBPNM_006579.2(EBP): c.329_332dupGATA (p.Tyr111Terfs)duplicationPathogenicrs797045544GRCh37Chr X, 48385404: 48385407
35EBPNM_006579.2(EBP): c.369_379delCATCACAGCTTinsAG (p.Ile124_Cys127delinsGly)indelLikely pathogenicrs797045545GRCh38Chr X, 48527185: 48527195
36EBPNM_006579.2(EBP): c.423_427delCCGCCinsT (p.Arg142Serfs)indelPathogenicrs797045546GRCh38Chr X, 48527239: 48527243
37EBPNM_006579.2(EBP): c.484dupG (p.Asp162Glyfs)duplicationPathogenicrs797045547GRCh38Chr X, 48528248: 48528248

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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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet