CDPX2
MCID: CHN039
MIFTS: 40

Chondrodysplasia Punctata, X-Linked Dominant (CDPX2) 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:
12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Chondrodysplasia Punctata, X-Linked Dominant 52 48 12
Cdpx2 48 54 70 50
Chondrodysplasia Punctata 2, X-Linked Dominant 52 70
Chondrodysplasia Punctata 2 X-Linked Dominant 48 27
Happle Syndrome 48 70
Cdpxd 48 54
Cpxd 48 54
Chondrodysplasia Punctata, X-Linked Dominant Type 68
X-Linked Dominant Chondrodysplasia Punctata 54
 
X-Linked Chondrodysplasia Punctata Type 2 54
Chondrodystrophia Calcificans Congenita 54
Conradi-Hünermann-Happle Syndrome 54
Conradi-Hunermann-Happle Syndrome 70
Conrad Hunermann Happle Syndrome 48
Conradi Hunermann Syndrome 48
Conradi-Hunermann Syndrome 70
Chondrodysplasia Punctata 68
Chh 70

Characteristics:

Orphanet epidemiological data:

54
cdpx2:
Inheritance: X-linked dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

64
chondrodysplasia punctata, x-linked dominant:
Inheritance: x-linked dominant inheritance
Onset and clinical course: congenital onset, variable expressivity

Classifications:



External Ids:

OMIM52 302960
Orphanet54 ORPHA35173
UMLS via Orphanet69 C0263627, C0282102
ICD10 via Orphanet31 Q77.3
MeSH39 D002806

Summaries for Chondrodysplasia Punctata, X-Linked Dominant

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NIH Rare Diseases:48 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 smith-lemli-opitz syndrome, and has symptoms including edema, edema and Array. An important gene associated with Chondrodysplasia Punctata, X-Linked Dominant is EBP (Emopamil Binding Protein (Sterol Isomerase)), and among its related pathways are cholesterol biosynthesis I and Terpenoid backbone biosynthesis. Affiliated tissues include bone, skin and eye.

UniProtKB/Swiss-Prot:70 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:52 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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Graphical network of diseases related to Chondrodysplasia Punctata, X-Linked Dominant:



Diseases related to chondrodysplasia punctata, x-linked dominant

Symptoms & Phenotypes for Chondrodysplasia Punctata, X-Linked Dominant

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Symptoms by clinical synopsis from OMIM:

302960

Clinical features from OMIM:

302960

Human phenotypes related to Chondrodysplasia Punctata, X-Linked Dominant:

 54 64 (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth64 54 Occasional (29-5%) HP:0000164
2 malar flattening64 54 Occasional (29-5%) HP:0000272
3 epicanthus64 54 Very frequent (99-80%) HP:0000286
4 sensorineural hearing impairment64 54 Occasional (29-5%) HP:0000407
5 microcornea64 54 Occasional (29-5%) HP:0000482
6 ptosis64 54 Very frequent (99-80%) HP:0000508
7 cataract64 54 Occasional (29-5%) HP:0000518
8 microphthalmia64 54 Occasional (29-5%) HP:0000568
9 optic atrophy64 54 Frequent (79-30%) HP:0000648
10 abnormality of the fingernails64 54 Very frequent (99-80%) HP:0001231
11 joint dislocation64 54 Very frequent (99-80%) HP:0001373
12 hip dysplasia64 54 Occasional (29-5%) HP:0001385
13 talipes equinovarus64 54 Occasional (29-5%) HP:0001762
14 foot polydactyly64 54 Occasional (29-5%) HP:0001829
15 frontal bossing64 54 Occasional (29-5%) HP:0002007
16 kyphosis64 54 Very frequent (99-80%) HP:0002808
17 abnormality of the vertebrae64 54 Occasional (29-5%) HP:0003468
18 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
19 short stature54 Very frequent (99-80%)
20 scarring alopecia of scalp64 54 Very frequent (99-80%) HP:0004552
21 abnormality of epiphysis morphology64 54 Occasional (29-5%) HP:0005930
22 congenital ichthyosiform erythroderma64 54 Very frequent (99-80%) HP:0007431
23 aplasia/hypoplasia of the skin64 54 Occasional (29-5%) HP:0008065
24 rhizomelia64 54 Occasional (29-5%) HP:0008905
25 abnormality of hair texture64 54 Occasional (29-5%) HP:0010719
26 erythema64 54 Very frequent (99-80%) HP:0010783
27 flat face64 54 Occasional (29-5%) HP:0012368
28 hemiatrophy64 54 Very frequent (99-80%) HP:0100556
29 hydronephrosis64 HP:0000126
30 hearing impairment64 HP:0000365
31 abnormality of the pinna64 HP:0000377
32 short neck64 HP:0000470
33 downslanted palpebral fissures64 HP:0000494
34 glaucoma64 HP:0000501
35 sparse and thin eyebrow64 HP:0000535
36 nystagmus64 HP:0000639
37 sparse eyelashes64 HP:0000653
38 abnormality of the thorax64 HP:0000765
39 edema64 HP:0000969
40 erythroderma64 HP:0001019
41 dandy-walker malformation64 HP:0001305
42 failure to thrive64 HP:0001508
43 polyhydramnios64 HP:0001561
44 alopecia64 HP:0001596
45 bilateral talipes equinovarus64 HP:0001776
46 intellectual disability, moderate64 HP:0002342
47 abnormality of pelvic girdle bone morphology64 HP:0002644
48 scoliosis64 HP:0002650
49 tracheal stenosis64 HP:0002777
50 tracheal calcification64 HP:0002787
51 hemivertebrae64 HP:0002937
52 patellar dislocation64 HP:0002999
53 elevated 8-dehydrocholesterol64 HP:0003462
54 elevated 8(9)-cholestenol64 HP:0003465
55 stippled calcification in carpal bones64 HP:0004241
56 tarsal stippling64 HP:0008131
57 punctate vertebral calcifications64 HP:0008420
58 postnatal growth retardation64 HP:0008897
59 epiphyseal stippling64 HP:0010655
60 concave nasal ridge64 HP:0011120
61 postaxial polydactyly64 HP:0100259

UMLS symptoms related to Chondrodysplasia Punctata, X-Linked Dominant:


edema

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 Dominant27

Anatomical Context for Chondrodysplasia Punctata, X-Linked Dominant

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

36
Bone, Skin, Eye

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:

70
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 37)
id Gene Variation Type Significance SNP ID Assembly Location
1EBPNM_ 006579.2(EBP): c.87G> A (p.Trp29Ter)SNVPathogenicrs104894798GRCh37Chr X, 48382246: 48382246
2EBPNM_ 006579.2(EBP): c.187C> T (p.Arg63Ter)SNVPathogenicrs104894799GRCh37Chr X, 48382346: 48382346
3EBPNM_ 006579.2(EBP): c.238G> A (p.Glu80Lys)SNVPathogenicrs104894800GRCh37Chr X, 48382397: 48382397
4EBPEBP, IVS3DS, G-T, +1SNVPathogenic
5EBPEBP, 1-BP DEL, 390AdeletionPathogenic
6EBPEBP, 1-BP INS, 586AinsertionPathogenic
7EBPNM_ 006579.2(EBP): c.386G> A (p.Trp129Ter)SNVPathogenicrs104894792GRCh37Chr X, 48385590: 48385590
8EBPNM_ 006579.2(EBP): c.523C> T (p.Gln175Ter)SNVPathogenicrs104894793GRCh37Chr X, 48386675: 48386675
9EBPNM_ 006579.2(EBP): c.587G> A (p.Trp196Ter)SNVPathogenicrs104894794GRCh37Chr X, 48386739: 48386739
10EBPNM_ 006579.2(EBP): c.440G> A (p.Arg147His)SNVPathogenicrs28935174GRCh37Chr X, 48385644: 48385644
11EBPNM_ 006579.2(EBP): c.141G> T (p.Trp47Cys)SNVPathogenicrs587783599GRCh37Chr X, 48382300: 48382300
12EBPNM_ 006579.2(EBP): c.182G> A (p.Trp61Ter)SNVPathogenicrs587783600GRCh37Chr X, 48382341: 48382341
13EBPNM_ 006579.2(EBP): c.204G> T (p.Trp68Cys)SNVLikely pathogenicrs587783601GRCh37Chr X, 48382363: 48382363
14EBPNM_ 006579.2(EBP): c.214T> C (p.Cys72Arg)SNVLikely pathogenicrs587783602GRCh37Chr X, 48382373: 48382373
15EBPNM_ 006579.2(EBP): c.218G> A (p.Gly73Glu)SNVLikely 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)SNVLikely pathogenicrs587783605GRCh37Chr X, 48382458: 48382458
18EBPNM_ 006579.2(EBP): c.301+2T> ASNVPathogenicrs587783606GRCh37Chr X, 48382462: 48382462
19EBPNM_ 006579.2(EBP): c.303G> T (p.Trp101Cys)SNVLikely pathogenicrs587783607GRCh37Chr X, 48385378: 48385378
20EBPNM_ 006579.2(EBP): c.304A> T (p.Lys102Ter)SNVPathogenicrs587783608GRCh37Chr X, 48385379: 48385379
21EBPNM_ 006579.2(EBP): c.310T> C (p.Tyr104His)SNVPathogenicrs587783609GRCh37Chr X, 48385385: 48385385
22EBPNM_ 006579.2(EBP): c.311A> G (p.Tyr104Cys)SNVLikely pathogenicrs587783610GRCh37Chr X, 48385386: 48385386
23EBPNM_ 006579.2(EBP): c.314C> A (p.Ala105Asp)SNVLikely pathogenicrs587783611GRCh37Chr X, 48385389: 48385389
24EBPNM_ 006579.2(EBP): c.320G> A (p.Gly107Glu)SNVLikely pathogenicrs587783612GRCh37Chr X, 48385395: 48385395
25EBPNM_ 006579.2(EBP): c.328C> T (p.Arg110Ter)SNVPathogenicrs587783613GRCh37Chr X, 48385403: 48385403
26EBPNM_ 006579.2(EBP): c.331T> C (p.Tyr111His)SNVLikely 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)SNVPathogenicrs587783616GRCh37Chr X, 48386632: 48386632
29EBPNM_ 006579.2(EBP): c.481G> A (p.Gly161Arg)SNVLikely pathogenicrs587783617GRCh37Chr X, 48386633: 48386633
30EBPNM_ 006579.2(EBP): c.527A> G (p.His176Arg)SNVLikely pathogenicrs587783618GRCh37Chr X, 48386679: 48386679
31EBPNM_ 006579.2(EBP): c.632T> G (p.Leu211Arg)SNVLikely 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, 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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Cellular components related to Chondrodysplasia Punctata, X-Linked Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00057839.5EBP, NSDHL, STS
2endoplasmic reticulum membraneGO:00057898.8EBP, NSDHL, STS

Biological processes related to Chondrodysplasia Punctata, X-Linked Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cholesterol biosynthetic processGO:000669510.0EBP, NSDHL
2cholesterol metabolic processGO:000820310.0EBP, NSDHL
3steroid biosynthetic processGO:00066949.9EBP, NSDHL
4lipid metabolic processGO:00066299.4EBP, NSDHL, STS
5sterol biosynthetic processGO:00161269.3EBP, NSDHL
6steroid metabolic processGO:00082029.2EBP, NSDHL, STS

Sources for Chondrodysplasia Punctata, X-Linked Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet