MCID: CHN039
MIFTS: 34

Chondrodysplasia Punctata, X-Linked Dominant malady

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

Aliases & Classifications for Chondrodysplasia Punctata, X-Linked Dominant

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Chondrodysplasia Punctata, X-Linked Dominant, Aliases & Descriptions:

Name: Chondrodysplasia Punctata, X-Linked Dominant 45 10 41
Cdpx2 41 21 43 47
X-Linked Dominant Chondrodysplasia Punctata 41 21 47
Conradi-Hünermann-Happle Syndrome 41 21 47
Chondrodysplasia Punctata 2, X-Linked Dominant 45 60
Chondrodysplasia Punctata 2 X-Linked Dominant 41 22
X-Linked Chondrodysplasia Punctata Type 2 41 47
Chondrodystrophia Calcificans Congenita 41 47
Happle Syndrome 41 21
 
Cdpxd 41 47
Cpxd 41 47
Chondrodysplasia Punctata, X-Linked Dominant Type 60
Chondrodysplasia Punctata 2, X-Linked 21
X-Linked Chondrodysplasia Punctata 2 21
Conrad Hunermann Happle Syndrome 41
Conradi-Hünermann Syndrome 21
Conradi Hunermann Syndrome 41
Chondrodysplasia Punctata 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
cdpx2:
Inheritance: X-linked dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 302960
Orphanet47 35173
ICD10 via Orphanet26 Q77.3
UMLS via Orphanet61 C0263627, C0282102

Summaries for Chondrodysplasia Punctata, X-Linked Dominant

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NIH Rare Diseases:41 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 chondrodysplasia punctata and chondrodysplasia, 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.

Genetics Home Reference:21 X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females.

OMIM:45 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
1chondrodysplasia punctata10.7
2chondrodysplasia10.6
3x-linked chondrodysplasia punctata10.5
4dyskeratosis congenita10.4
5chondrodysplasia punctata 2, x-linked10.4
6peroxisome disorders10.4
7cataract10.1
8smith-lemli-opitz syndrome10.1
9greenberg skeletal dysplasia10.1

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:

 47 (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

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

(show all 70)
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 kyphosis hallmark (90%) HP:0002808
5 short stature hallmark (90%) HP:0004322
6 ichthyosis hallmark (90%) HP:0008064
7 abnormal hair quantity hallmark (90%) HP:0011362
8 asymmetric growth hallmark (90%) HP:0100555
9 optic atrophy typical (50%) HP:0000648
10 abnormality of the teeth occasional (7.5%) HP:0000164
11 malar flattening occasional (7.5%) HP:0000272
12 sensorineural hearing impairment occasional (7.5%) HP:0000407
13 microcornea occasional (7.5%) HP:0000482
14 cataract occasional (7.5%) HP:0000518
15 foot polydactyly occasional (7.5%) HP:0001829
16 talipes occasional (7.5%) HP:0001883
17 frontal bossing occasional (7.5%) HP:0002007
18 abnormality of the hip bone occasional (7.5%) HP:0003272
19 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
20 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
21 abnormality of the epiphyses occasional (7.5%) HP:0005930
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 cheekbone underdevelopment 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 eyebrow HP:0000535
37 microphthalmos 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 x-linked dominant inheritance HP:0001423
45 failure to thrive HP:0001508
46 polyhydramnios HP:0001561
47 alopecia HP:0001596
48 bilateral talipes equinovarus HP:0001776
49 frontal bossing HP:0002007
50 intellectual disability, moderate HP:0002342
51 abnormality of pelvic girdle bone morphology HP:0002644
52 scoliosis HP:0002650
53 tracheal stenosis HP:0002777
54 tracheal calcification HP:0002787
55 hemivertebrae HP:0002937
56 patellar dislocation HP:0002999
57 elevated 8-dehydrocholesterol HP:0003462
58 elevated 8(9)-cholestenol HP:0003465
59 congenital onset HP:0003577
60 variable expressivity HP:0003828
61 stippled calcification in carpal bones HP:0004241
62 congenital ichthyosiform erythroderma HP:0007431
63 sparse hair HP:0008070
64 tarsal stippling HP:0008131
65 punctate vertebral calcifications HP:0008420
66 postnatal growth retardation HP:0008897
67 epiphyseal stippling HP:0010655
68 concave nasal ridge HP:0011120
69 flat face HP:0012368
70 hemiatrophy HP:0100556

Drugs & Therapeutics for Chondrodysplasia Punctata, X-Linked Dominant

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Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata, X-Linked Dominant

Search 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 Dominant22

Anatomical Context for Chondrodysplasia Punctata, X-Linked Dominant

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

31
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:

62
id Symbol AA change Variation ID SNP ID
1EBPp.Glu80LysVAR_012105rs28936073
2EBPp.Arg110GlnVAR_012106
3EBPp.Arg147GlyVAR_012107
4EBPp.Arg147HisVAR_012108rs28935174

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

6
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, IVS3, 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

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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Compounds 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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Products for genes affiliated with Chondrodysplasia Punctata, X-Linked Dominant

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Sources for Chondrodysplasia Punctata, X-Linked Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet