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

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

Name: Chondrodysplasia Punctata, X-Linked Dominant 54 50 13
Cdpx2 50 56 66 52
Chondrodysplasia Punctata 2, X-Linked Dominant 54 66
Chondrodysplasia Punctata 2 X-Linked Dominant 50 29
Happle Syndrome 50 66
Cdpxd 50 56
Cpxd 50 56
Chondrodysplasia Punctata, X-Linked Dominant Type 69
X-Linked Dominant Chondrodysplasia Punctata 56
X-Linked Chondrodysplasia Punctata Type 2 56
Chondrodystrophia Calcificans Congenita 56
Conradi-Hünermann-Happle Syndrome 56
Conradi-Hunermann-Happle Syndrome 66
Conrad Hunermann Happle Syndrome 50
Conradi Hunermann Syndrome 50
Conradi-Hunermann Syndrome 66
Chondrodysplasia Punctata 69
Chh 66

Characteristics:

Orphanet epidemiological data:

56
x-linked dominant chondrodysplasia punctata
Inheritance: X-linked dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
chondrodysplasia punctata, x-linked dominant:
Onset and clinical course variable expressivity congenital onset
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 54 302960
Orphanet 56 ORPHA35173
UMLS via Orphanet 70 C0263627 C0282102
ICD10 via Orphanet 34 Q77.3
MeSH 42 D002806

Summaries for Chondrodysplasia Punctata, X-Linked Dominant

NIH Rare Diseases : 50 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 malar flattening, joint dislocation and frontal bossing. An important gene associated with Chondrodysplasia Punctata, X-Linked Dominant is EBP (Emopamil Binding Protein (Sterol Isomerase)), and among its related pathways/superpathways are Metabolism and Terpenoid backbone biosynthesis. Affiliated tissues include bone, skin and eye.

UniProtKB/Swiss-Prot : 66 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 : 54 Chondrodysplasia punctata (CDP) is a clinically and genetically heterogeneous disorder characterized by punctiform... (302960) more...

Related Diseases for Chondrodysplasia Punctata, X-Linked Dominant

Graphical network of the top 20 diseases related to Chondrodysplasia Punctata, X-Linked Dominant:



Diseases related to Chondrodysplasia Punctata, X-Linked Dominant

Symptoms & Phenotypes for Chondrodysplasia Punctata, X-Linked Dominant

Symptoms by clinical synopsis from OMIM:

302960

Clinical features from OMIM:

302960

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

56 32 (show top 50) (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 56 32 Occasional (29-5%) HP:0000272
2 joint dislocation 56 32 Very frequent (99-80%) HP:0001373
3 frontal bossing 56 32 Occasional (29-5%) HP:0002007
4 abnormality of epiphysis morphology 56 32 Occasional (29-5%) HP:0005930
5 ptosis 56 32 Very frequent (99-80%) HP:0000508
6 kyphosis 56 32 Very frequent (99-80%) HP:0002808
7 cataract 56 32 Occasional (29-5%) HP:0000518
8 hip dysplasia 56 32 Occasional (29-5%) HP:0001385
9 abnormality of the teeth 56 32 Occasional (29-5%) HP:0000164
10 abnormality of the vertebrae 56 32 Occasional (29-5%) HP:0003468
11 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
12 optic atrophy 56 32 Frequent (79-30%) HP:0000648
13 epicanthus 56 32 Very frequent (99-80%) HP:0000286
14 flat face 56 32 Occasional (29-5%) HP:0012368
15 abnormality of the fingernails 56 32 Very frequent (99-80%) HP:0001231
16 microphthalmia 56 32 Occasional (29-5%) HP:0000568
17 rhizomelia 56 32 Occasional (29-5%) HP:0008905
18 clinodactyly of the 5th finger 56 32 Occasional (29-5%) HP:0004209
19 aplasia/hypoplasia of the skin 56 32 Occasional (29-5%) HP:0008065
20 talipes equinovarus 56 32 Occasional (29-5%) HP:0001762
21 foot polydactyly 56 32 Occasional (29-5%) HP:0001829
22 erythema 56 32 Very frequent (99-80%) HP:0010783
23 microcornea 56 32 Occasional (29-5%) HP:0000482
24 hemiatrophy 56 32 Very frequent (99-80%) HP:0100556
25 abnormality of hair texture 56 32 Occasional (29-5%) HP:0010719
26 congenital ichthyosiform erythroderma 56 32 Very frequent (99-80%) HP:0007431
27 scarring alopecia of scalp 56 32 Very frequent (99-80%) HP:0004552
28 edema 32 HP:0000969
29 short neck 32 HP:0000470
30 nystagmus 32 HP:0000639
31 failure to thrive 32 HP:0001508
32 scoliosis 32 HP:0002650
33 hearing impairment 32 HP:0000365
34 short stature 56 Very frequent (99-80%)
35 abnormality of the thorax 32 HP:0000765
36 concave nasal ridge 32 HP:0011120
37 epiphyseal stippling 32 HP:0010655
38 postnatal growth retardation 32 HP:0008897
39 abnormality of the pinna 32 HP:0000377
40 intellectual disability, moderate 32 HP:0002342
41 glaucoma 32 HP:0000501
42 downslanted palpebral fissures 32 HP:0000494
43 polyhydramnios 32 HP:0001561
44 patellar dislocation 32 HP:0002999
45 alopecia 32 HP:0001596
46 tracheal stenosis 32 HP:0002777
47 abnormality of pelvic girdle bone morphology 32 HP:0002644
48 hemivertebrae 32 HP:0002937
49 hydronephrosis 32 HP:0000126
50 dandy-walker malformation 32 HP:0001305

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


edema

Drugs & Therapeutics for Chondrodysplasia Punctata, X-Linked Dominant

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

Genetic Tests for Chondrodysplasia Punctata, X-Linked Dominant

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

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 2 X-Linked Dominant 29

Anatomical Context for Chondrodysplasia Punctata, X-Linked Dominant

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

39
Bone, Skin, Eye

Publications for Chondrodysplasia Punctata, X-Linked Dominant

Articles related to Chondrodysplasia Punctata, X-Linked Dominant:

id Title Authors Year
1
Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis). ( 16536827 )
2006

Variations for Chondrodysplasia Punctata, X-Linked Dominant

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

66
id Symbol AA change Variation ID SNP ID
1 EBP p.Glu80Lys VAR_012105 rs28936073
2 EBP p.Arg110Gln VAR_012106
3 EBP p.Arg147Gly VAR_012107
4 EBP p.Arg147His VAR_012108 rs28935174
5 EBP p.Glu103Lys VAR_074637

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

6 (show all 37)
id Gene Variation Type Significance SNP ID Assembly Location
1 EBP NM_006579.2(EBP): c.87G> A (p.Trp29Ter) single nucleotide variant Pathogenic rs104894798 GRCh37 Chromosome X, 48382246: 48382246
2 EBP NM_006579.2(EBP): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs104894799 GRCh37 Chromosome X, 48382346: 48382346
3 EBP NM_006579.2(EBP): c.238G> A (p.Glu80Lys) single nucleotide variant Pathogenic rs104894800 GRCh37 Chromosome X, 48382397: 48382397
4 EBP EBP, IVS3DS, G-T, +1 single nucleotide variant Pathogenic
5 EBP EBP, 1-BP DEL, 390A deletion Pathogenic
6 EBP EBP, 1-BP INS, 586A insertion Pathogenic
7 EBP NM_006579.2(EBP): c.386G> A (p.Trp129Ter) single nucleotide variant Pathogenic rs104894792 GRCh37 Chromosome X, 48385590: 48385590
8 EBP NM_006579.2(EBP): c.523C> T (p.Gln175Ter) single nucleotide variant Pathogenic rs104894793 GRCh37 Chromosome X, 48386675: 48386675
9 EBP NM_006579.2(EBP): c.587G> A (p.Trp196Ter) single nucleotide variant Pathogenic rs104894794 GRCh37 Chromosome X, 48386739: 48386739
10 EBP NM_006579.2(EBP): c.440G> A (p.Arg147His) single nucleotide variant Pathogenic rs28935174 GRCh37 Chromosome X, 48385644: 48385644
11 EBP NM_006579.2(EBP): c.141G> T (p.Trp47Cys) single nucleotide variant Pathogenic rs587783599 GRCh37 Chromosome X, 48382300: 48382300
12 EBP NM_006579.2(EBP): c.182G> A (p.Trp61Ter) single nucleotide variant Pathogenic rs587783600 GRCh37 Chromosome X, 48382341: 48382341
13 EBP NM_006579.2(EBP): c.204G> T (p.Trp68Cys) single nucleotide variant Likely pathogenic rs587783601 GRCh37 Chromosome X, 48382363: 48382363
14 EBP NM_006579.2(EBP): c.214T> C (p.Cys72Arg) single nucleotide variant Likely pathogenic rs587783602 GRCh37 Chromosome X, 48382373: 48382373
15 EBP NM_006579.2(EBP): c.218G> A (p.Gly73Glu) single nucleotide variant Likely pathogenic rs587783603 GRCh37 Chromosome X, 48382377: 48382377
16 EBP NM_006579.2(EBP): c.292_296delTCTCA (p.Ser98Thrfs) deletion Pathogenic rs587783604 GRCh37 Chromosome X, 48382451: 48382455
17 EBP NM_006579.2(EBP): c.299T> C (p.Leu100Pro) single nucleotide variant Likely pathogenic rs587783605 GRCh37 Chromosome X, 48382458: 48382458
18 EBP NM_006579.2(EBP): c.301+2T> A single nucleotide variant Pathogenic rs587783606 GRCh37 Chromosome X, 48382462: 48382462
19 EBP NM_006579.2(EBP): c.303G> T (p.Trp101Cys) single nucleotide variant Likely pathogenic rs587783607 GRCh37 Chromosome X, 48385378: 48385378
20 EBP NM_006579.2(EBP): c.304A> T (p.Lys102Ter) single nucleotide variant Pathogenic rs587783608 GRCh37 Chromosome X, 48385379: 48385379
21 EBP NM_006579.2(EBP): c.310T> C (p.Tyr104His) single nucleotide variant Pathogenic rs587783609 GRCh37 Chromosome X, 48385385: 48385385
22 EBP NM_006579.2(EBP): c.311A> G (p.Tyr104Cys) single nucleotide variant Likely pathogenic rs587783610 GRCh37 Chromosome X, 48385386: 48385386
23 EBP NM_006579.2(EBP): c.314C> A (p.Ala105Asp) single nucleotide variant Likely pathogenic rs587783611 GRCh37 Chromosome X, 48385389: 48385389
24 EBP NM_006579.2(EBP): c.320G> A (p.Gly107Glu) single nucleotide variant Likely pathogenic rs587783612 GRCh37 Chromosome X, 48385395: 48385395
25 EBP NM_006579.2(EBP): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs587783613 GRCh37 Chromosome X, 48385403: 48385403
26 EBP NM_006579.2(EBP): c.331T> C (p.Tyr111His) single nucleotide variant Likely pathogenic rs587783614 GRCh37 Chromosome X, 48385406: 48385406
27 EBP NM_006579.2(EBP): c.464_465delCT (p.Ser155Cysfs) deletion Pathogenic rs587783615 GRCh37 Chromosome X, 48385668: 48385669
28 EBP NM_006579.2(EBP): c.480T> G (p.Tyr160Ter) single nucleotide variant Pathogenic rs587783616 GRCh37 Chromosome X, 48386632: 48386632
29 EBP NM_006579.2(EBP): c.481G> A (p.Gly161Arg) single nucleotide variant Likely pathogenic rs587783617 GRCh37 Chromosome X, 48386633: 48386633
30 EBP NM_006579.2(EBP): c.527A> G (p.His176Arg) single nucleotide variant Likely pathogenic rs587783618 GRCh37 Chromosome X, 48386679: 48386679
31 EBP NM_006579.2(EBP): c.632T> G (p.Leu211Arg) single nucleotide variant Likely pathogenic rs587783619 GRCh37 Chromosome X, 48386784: 48386784
32 EBP NM_006579.2(EBP): c.201_203dupCTG (p.Cys67_Trp68insCys) duplication Likely pathogenic rs797045542 GRCh37 Chromosome X, 48382360: 48382362
33 EBP NM_006579.2(EBP): c.225dupT (p.His76Serfs) duplication Pathogenic rs797045543 GRCh37 Chromosome X, 48382384: 48382384
34 EBP NM_006579.2(EBP): c.329_332dupGATA (p.Tyr111Terfs) duplication Pathogenic rs797045544 GRCh37 Chromosome X, 48385404: 48385407
35 EBP NM_006579.2(EBP): c.369_379delCATCACAGCTTinsAG (p.Ile124_Cys127delinsGly) indel Likely pathogenic rs797045545 GRCh38 Chromosome X, 48527185: 48527195
36 EBP NM_006579.2(EBP): c.423_427delCCGCCinsT (p.Arg142Serfs) indel Pathogenic rs797045546 GRCh38 Chromosome X, 48527239: 48527243
37 EBP NM_006579.2(EBP): c.484dupG (p.Asp162Glyfs) duplication Pathogenic rs797045547 GRCh38 Chromosome X, 48528248: 48528248

Expression for Chondrodysplasia Punctata, X-Linked Dominant

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

Pathways for Chondrodysplasia Punctata, X-Linked Dominant

GO Terms for Chondrodysplasia Punctata, X-Linked Dominant

Cellular components related to Chondrodysplasia Punctata, X-Linked Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.13 EBP NSDHL STS
2 endoplasmic reticulum membrane GO:0005789 8.8 EBP NSDHL STS

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

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.5 EBP NSDHL STS
2 cholesterol metabolic process GO:0008203 9.37 EBP NSDHL
3 steroid biosynthetic process GO:0006694 9.26 EBP NSDHL
4 cholesterol biosynthetic process GO:0006695 9.16 EBP NSDHL
5 sterol biosynthetic process GO:0016126 8.96 EBP NSDHL
6 steroid metabolic process GO:0008202 8.8 EBP NSDHL STS

Sources for Chondrodysplasia Punctata, X-Linked Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....