MCID: CHN039
MIFTS: 35

Chondrodysplasia Punctata, X-Linked Dominant malady

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

Aliases & Classifications for Chondrodysplasia Punctata, X-Linked Dominant

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Sources:
50OMIM, 46NIH Rare Diseases, 12diseasecard, 68UniProtKB/Swiss-Prot, 52Orphanet, 25GTR, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
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Aliases & Descriptions for Chondrodysplasia Punctata, X-Linked Dominant:

Name: Chondrodysplasia Punctata, X-Linked Dominant 50 46 12
Cdpx2 46 52 68 48
Chondrodysplasia Punctata 2, X-Linked Dominant 50 68
Chondrodysplasia Punctata 2 X-Linked Dominant 46 25
Happle Syndrome 46 68
Cdpxd 46 52
Cpxd 46 52
Chondrodysplasia Punctata, X-Linked Dominant Type 66
X-Linked Dominant Chondrodysplasia Punctata 52
 
X-Linked Chondrodysplasia Punctata Type 2 52
Chondrodystrophia Calcificans Congenita 52
Conradi-Hünermann-Happle Syndrome 52
Conradi-Hunermann-Happle Syndrome 68
Conrad Hunermann Happle Syndrome 46
Conradi Hunermann Syndrome 46
Conradi-Hunermann Syndrome 68
Chh 68

Characteristics:

Orphanet epidemiological data:

52
cdpx2:
Inheritance: X-linked dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
chondrodysplasia punctata, x-linked dominant:
Inheritance: x-linked dominant inheritance
Onset and clinical course: congenital onset, variable expressivity


Classifications:



External Ids:

OMIM50 302960
Orphanet52 ORPHA35173
ICD10 via Orphanet29 Q77.3
UMLS via Orphanet67 C0263627, C0282102
MeSH37 D002806

Summaries for Chondrodysplasia Punctata, X-Linked Dominant

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NIH Rare Diseases:46 X-linked dominant chondrodysplasia punctata (cdpx2), also known as conradi-hünermann-happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature. the specific symptoms and severity of the disorder may vary greatly from one individual to another. cdpx2 is caused by mutations in the emopamil binding protein gene, ebp. in many cases, this mutation occurs randomly, for no apparent reason (i.e., new mutation). the condition  is inherited as an x-linked dominant trait and occurs almost exclusively in females.treatment of cdpx2 is directed toward the specific symptoms that present in each individual. such treatment may require the coordinated efforts of a team of medical professionals, including physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); skin specialists (dermatologists); eye specialists; and/or other health care professionals. last updated: 11/18/2011

MalaCards based summary: Chondrodysplasia Punctata, X-Linked Dominant, also known as cdpx2, is related to cartilage-hair hypoplasia and chondrodysplasia punctata syndrome, and has symptoms including epicanthus, ptosis and abnormality of the fingernails. An important gene associated with Chondrodysplasia Punctata, X-Linked Dominant is EBP (Emopamil Binding Protein (Sterol Isomerase)). Affiliated tissues include bone, skin and eye.

UniProtKB/Swiss-Prot:68 Chondrodysplasia punctata 2, X-linked dominant: A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8- dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues.

OMIM:50 Chondrodysplasia punctata (CDP) is a clinically and genetically heterogeneous disorder characterized by punctiform... (302960) more...

Related Diseases for Chondrodysplasia Punctata, X-Linked Dominant

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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, X-Linked Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cartilage-hair hypoplasia11.7
2chondrodysplasia punctata syndrome11.3
3chondrodysplasia punctata 2, x-linked11.3
4x-linked chondrodysplasia punctata11.3
5omenn syndrome10.0
6severe combined immunodeficiency9.9
7dysostosis9.9
8mental retardation, x-linked 969.5EBP, TBX22
9congenital disorder of glycosylation, type iim9.2EBP, TBX22

Graphical network of diseases related to Chondrodysplasia Punctata, X-Linked Dominant:



Diseases related to chondrodysplasia punctata, x-linked dominant

Symptoms for Chondrodysplasia Punctata, X-Linked Dominant

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Symptoms by clinical synopsis from OMIM:

302960

Clinical features from OMIM:

302960

Symptoms:

 52 (show all 28)
  • abnormality of the teeth
  • malar flattening
  • epicanthus
  • sensorineural hearing impairment
  • microcornea
  • ptosis
  • cataract
  • microphthalmos
  • optic atrophy
  • abnormality of the fingernails
  • joint dislocation
  • hip dysplasia
  • talipes equinovarus
  • foot polydactyly
  • frontal bossing
  • kyphosis
  • abnormality of the vertebrae
  • clinodactyly of the 5th finger
  • short stature
  • scarring alopecia of scalp
  • abnormality of epiphysis morphology
  • congenital ichthyosiform erythroderma
  • aplasia/hypoplasia of the skin
  • rhizomelia
  • abnormality of hair texture
  • erythema
  • flat face
  • hemiatrophy

HPO human phenotypes related to Chondrodysplasia Punctata, X-Linked Dominant:

(show all 66)
id Description Frequency HPO Source Accession
1 epicanthus hallmark (90%) HP:0000286
2 ptosis hallmark (90%) HP:0000508
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 abnormal joint morphology hallmark (90%) HP:0001367
5 kyphosis hallmark (90%) HP:0002808
6 short stature hallmark (90%) HP:0004322
7 ichthyosis hallmark (90%) HP:0008064
8 abnormal hair quantity hallmark (90%) HP:0011362
9 asymmetric growth hallmark (90%) HP:0100555
10 optic atrophy typical (50%) HP:0000648
11 abnormality of the teeth occasional (7.5%) HP:0000164
12 malar flattening occasional (7.5%) HP:0000272
13 sensorineural hearing impairment occasional (7.5%) HP:0000407
14 microcornea occasional (7.5%) HP:0000482
15 cataract occasional (7.5%) HP:0000518
16 foot polydactyly occasional (7.5%) HP:0001829
17 talipes occasional (7.5%) HP:0001883
18 frontal bossing occasional (7.5%) HP:0002007
19 abnormality of the hip bone occasional (7.5%) HP:0003272
20 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
21 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
22 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
23 aplasia/hypoplasia of the skin occasional (7.5%) HP:0008065
24 limb undergrowth occasional (7.5%) HP:0009826
25 hypoplasia of the zygomatic bone occasional (7.5%) HP:0010669
26 abnormality of hair texture occasional (7.5%) HP:0010719
27 postaxial polydactyly rare (5%) HP:0100259
28 hydronephrosis HP:0000126
29 malar flattening HP:0000272
30 hearing impairment HP:0000365
31 abnormality of the pinna HP:0000377
32 short neck HP:0000470
33 downslanted palpebral fissures HP:0000494
34 glaucoma HP:0000501
35 cataract HP:0000518
36 sparse and thin eyebrow HP:0000535
37 microphthalmia HP:0000568
38 nystagmus HP:0000639
39 sparse eyelashes HP:0000653
40 abnormality of the thorax HP:0000765
41 edema HP:0000969
42 erythroderma HP:0001019
43 dandy-walker malformation HP:0001305
44 failure to thrive HP:0001508
45 polyhydramnios HP:0001561
46 alopecia HP:0001596
47 bilateral talipes equinovarus HP:0001776
48 frontal bossing HP:0002007
49 intellectual disability, moderate HP:0002342
50 abnormality of pelvic girdle bone morphology HP:0002644
51 scoliosis HP:0002650
52 tracheal stenosis HP:0002777
53 tracheal calcification HP:0002787
54 hemivertebrae HP:0002937
55 patellar dislocation HP:0002999
56 elevated 8-dehydrocholesterol HP:0003462
57 elevated 8(9)-cholestenol HP:0003465
58 stippled calcification in carpal bones HP:0004241
59 congenital ichthyosiform erythroderma HP:0007431
60 tarsal stippling HP:0008131
61 punctate vertebral calcifications HP:0008420
62 postnatal growth retardation HP:0008897
63 epiphyseal stippling HP:0010655
64 concave nasal ridge HP:0011120
65 flat face HP:0012368
66 hemiatrophy HP:0100556

Drugs & Therapeutics for Chondrodysplasia Punctata, X-Linked Dominant

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Chondrodysplasia Punctata, X-Linked Dominant

Genetic Tests for Chondrodysplasia Punctata, X-Linked Dominant

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

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 2 X-Linked Dominant25

Anatomical Context for Chondrodysplasia Punctata, X-Linked Dominant

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

34
Bone, Skin, Eye

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

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Publications for Chondrodysplasia Punctata, X-Linked Dominant

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Articles related to Chondrodysplasia Punctata, X-Linked Dominant:

idTitleAuthorsYear
1
Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis). (16536827)
2006

Variations for Chondrodysplasia Punctata, X-Linked Dominant

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UniProtKB/Swiss-Prot genetic disease variations for Chondrodysplasia Punctata, X-Linked Dominant:

68
id Symbol AA change Variation ID SNP ID
1EBPp.Glu80LysVAR_012105rs28936073
2EBPp.Arg110GlnVAR_012106
3EBPp.Arg147GlyVAR_012107
4EBPp.Arg147HisVAR_012108rs28935174
5EBPp.Glu103LysVAR_074637

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

5 (show all 38)
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 pathogenicrs587783601GRCh38Chr X, 48523975: 48523975
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.511C> T (p.Arg171Cys)single nucleotide variantLikely pathogenicrs141925556GRCh37Chr X, 48386663: 48386663
31EBPNM_006579.2(EBP): c.527A> G (p.His176Arg)single nucleotide variantLikely pathogenicrs587783618GRCh37Chr X, 48386679: 48386679
32EBPNM_006579.2(EBP): c.632T> G (p.Leu211Arg)single nucleotide variantLikely pathogenicrs587783619GRCh37Chr X, 48386784: 48386784
33EBPNM_006579.2(EBP): c.201_203dupCTG (p.Cys67_Trp68insCys)duplicationLikely pathogenicrs797045542GRCh37Chr X, 48382360: 48382362
34EBPNM_006579.2(EBP): c.225dupT (p.His76Serfs)duplicationPathogenicrs797045543GRCh37Chr X, 48382384: 48382384
35EBPNM_006579.2(EBP): c.329_332dupGATA (p.Tyr111Terfs)duplicationPathogenicrs797045544GRCh37Chr X, 48385404: 48385407
36EBPNM_006579.2(EBP): c.369_379delCATCACAGCTTinsAG (p.Ile124_Cys127delinsGly)indelLikely pathogenicrs797045545GRCh38Chr X, 48527185: 48527195
37EBPNM_006579.2(EBP): c.423_427delCCGCCinsT (p.Arg142Serfs)indelPathogenicrs797045546GRCh38Chr X, 48527239: 48527243
38EBPNM_006579.2(EBP): c.484dupG (p.Asp162Glyfs)duplicationPathogenicrs797045547GRCh37Chr X, 48386636: 48386636

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

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

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

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

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Sources for Chondrodysplasia Punctata, X-Linked Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet