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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12diseasecard, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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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 70
Conradi Hunermann Syndrome 48
Chondrodysplasia Punctata 68
Cartilage-Hair Hypoplasia 68
Chh 70


Orphanet epidemiological data:

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


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


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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OMIM:52 Chondrodysplasia punctata (CDP) is a clinically and genetically heterogeneous disorder characterized by punctiform... (302960) more...

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 epicanthus, ptosis and abnormality of the fingernails. 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.

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

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.

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:


Clinical features from OMIM:


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

 64 54 (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epicanthus64 54 hallmark (90%) Very frequent (99-80%) HP:0000286
2 ptosis64 54 hallmark (90%) Very frequent (99-80%) HP:0000508
3 abnormality of the fingernails64 54 hallmark (90%) Very frequent (99-80%) HP:0001231
4 abnormal joint morphology64 hallmark (90%) HP:0001367
5 kyphosis64 54 hallmark (90%) Very frequent (99-80%) HP:0002808
6 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
7 ichthyosis64 hallmark (90%) HP:0008064
8 abnormal hair quantity64 hallmark (90%) HP:0011362
9 asymmetric growth64 hallmark (90%) HP:0100555
10 optic atrophy64 54 typical (50%) Frequent (79-30%) HP:0000648
11 abnormality of the teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0000164
12 malar flattening64 54 occasional (7.5%) Occasional (29-5%) HP:0000272
13 sensorineural hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000407
14 microcornea64 54 occasional (7.5%) Occasional (29-5%) HP:0000482
15 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
16 foot polydactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001829
17 talipes64 occasional (7.5%) HP:0001883
18 frontal bossing64 54 occasional (7.5%) Occasional (29-5%) HP:0002007
19 abnormality of the hip bone64 occasional (7.5%) HP:0003272
20 abnormal form of the vertebral bodies64 occasional (7.5%) HP:0003312
21 clinodactyly of the 5th finger64 54 occasional (7.5%) Occasional (29-5%) HP:0004209
22 aplasia/hypoplasia affecting the eye64 occasional (7.5%) HP:0008056
23 aplasia/hypoplasia of the skin64 54 occasional (7.5%) Occasional (29-5%) HP:0008065
24 limb undergrowth64 occasional (7.5%) HP:0009826
25 hypoplasia of the zygomatic bone64 occasional (7.5%) HP:0010669
26 abnormality of hair texture64 54 occasional (7.5%) Occasional (29-5%) HP:0010719
27 postaxial polydactyly64 rare (5%) HP:0100259
28 hydronephrosis64 HP:0000126
29 hearing impairment64 HP:0000365
30 abnormality of the pinna64 HP:0000377
31 short neck64 HP:0000470
32 downslanted palpebral fissures64 HP:0000494
33 glaucoma64 HP:0000501
34 sparse and thin eyebrow64 HP:0000535
35 microphthalmia64 54 Occasional (29-5%) HP:0000568
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 congenital ichthyosiform erythroderma64 54 Very frequent (99-80%) HP:0007431
57 tarsal stippling64 HP:0008131
58 punctate vertebral calcifications64 HP:0008420
59 postnatal growth retardation64 HP:0008897
60 epiphyseal stippling64 HP:0010655
61 concave nasal ridge64 HP:0011120
62 flat face64 54 Occasional (29-5%) HP:0012368
63 hemiatrophy64 54 Very frequent (99-80%) HP:0100556
64 joint dislocation54 Very frequent (99-80%)
65 hip dysplasia54 Occasional (29-5%)
66 talipes equinovarus54 Occasional (29-5%)
67 abnormality of the vertebrae54 Occasional (29-5%)
68 scarring alopecia of scalp54 Very frequent (99-80%)
69 abnormality of epiphysis morphology54 Occasional (29-5%)
70 rhizomelia54 Occasional (29-5%)
71 erythema54 Very frequent (99-80%)

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:

Bone, Skin, Eye

Publications for Chondrodysplasia Punctata, X-Linked Dominant

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Articles related to Chondrodysplasia Punctata, X-Linked Dominant:

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

Variations for Chondrodysplasia Punctata, X-Linked Dominant

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

id Symbol AA change Variation ID SNP ID

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)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, +1SNVPathogenicChr na, -1: -1
5EBPEBP, 1-BP DEL, 390AdeletionPathogenicChr na, -1: -1
6EBPEBP, 1-BP INS, 586AinsertionPathogenicChr na, -1: -1
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 pathogenicrs587783607GRCh38Chr X, 48526990: 48526990
20EBPNM_006579.2(EBP): c.304A> T (p.Lys102Ter)SNVPathogenicrs587783608GRCh38Chr X, 48526991: 48526991
21EBPNM_006579.2(EBP): c.310T> C (p.Tyr104His)SNVPathogenicrs587783609GRCh38Chr X, 48526997: 48526997
22EBPNM_006579.2(EBP): c.311A> G (p.Tyr104Cys)SNVLikely pathogenicrs587783610GRCh38Chr X, 48526998: 48526998
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.511C> T (p.Arg171Cys)SNVLikely pathogenicrs141925556GRCh37Chr X, 48386663: 48386663
31EBPNM_006579.2(EBP): c.527A> G (p.His176Arg)SNVLikely pathogenicrs587783618GRCh37Chr X, 48386679: 48386679
32EBPNM_006579.2(EBP): c.632T> G (p.Leu211Arg)SNVLikely 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)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:00057899.5EBP, NSDHL, STS
3nuclear envelopeGO:00056359.4EBP, STS
4intracellular membrane-bounded organelleGO:00432319.4EBP, NSDHL, STS

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol biosynthetic processGO:00066959.8EBP, NSDHL
2cholesterol metabolic processGO:00082039.3EBP, NSDHL

Sources for Chondrodysplasia Punctata, X-Linked Dominant

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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet