CPXD
MCID: CHN018
MIFTS: 32

Chondrodysplasia Punctata 2, X-Linked (CPXD) malady

Genetic diseases, Eye diseases, Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases, Rare diseases categories
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Summaries for Chondrodysplasia Punctata 2, X-Linked

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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.

MalaCards based summary: Chondrodysplasia Punctata 2, X-Linked, also known as x-linked dominant chondrodysplasia punctata, is related to chondrodysplasia punctata 2 x-linked dominant and dyskeratosis congenita, and has symptoms including ptosis, epicanthic folds and kyphosis. An important gene associated with Chondrodysplasia Punctata 2, X-Linked is EBP (emopamil binding protein (sterol isomerase)). Affiliated tissues include bone, skin and eye.

Description from OMIM:46 302960

GeneReviews summary for x-dcdp

Aliases & Classifications for Chondrodysplasia Punctata 2, X-Linked

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Sources:
19GeneReviews, 20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Chondrodysplasia Punctata 2, X-Linked, Aliases & Descriptions:

Name: Chondrodysplasia Punctata 2, X-Linked 19 20 21
X-Linked Dominant Chondrodysplasia Punctata 21 48 62
Cdpx2 21 48 62
Chondrodystrophia Calcificans Congenita 48 62
X-Linked Chondrodysplasia Punctata 2 21 62
Conradi-Hünermann-Happle Syndrome 21 48
Conradi-Hünermann Syndrome 19 21
 
Happle Syndrome 19 21
Cdpxd 48 62
Cpxd 48 62
Chondrodysplasia Punctata, X-Linked Dominant Type 62
Chondrodysplasia Punctata, X-Linked Dominant 46
X-Linked Chondrodysplasia Punctata Type 2 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
x-linked dominant chondrodysplasia punctata:
Inheritance: X-linked dominant; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

OMIM46 302960
ICD10 via Orphanet26 Q77.3
UMLS via Orphanet63 C0263627, C0282102

Related Diseases for Chondrodysplasia Punctata 2, X-Linked

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Graphical network of diseases related to Chondrodysplasia Punctata 2, X-Linked:



Diseases related to chondrodysplasia punctata 2, x-linked

Symptoms for Chondrodysplasia Punctata 2, X-Linked

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Symptoms by clinical synopsis from OMIM:

302960

Clinical features from OMIM:

302960

Symptoms:

48 (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 2, X-Linked:

(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 2, X-Linked

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Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata 2, X-Linked

Search NIH Clinical Center for Chondrodysplasia Punctata 2, X-Linked

Genetic Tests for Chondrodysplasia Punctata 2, X-Linked

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Genetic tests related to Chondrodysplasia Punctata 2, X-Linked:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 2, X-Linked20 EBP

Anatomical Context for Chondrodysplasia Punctata 2, X-Linked

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MalaCards organs/tissues related to Chondrodysplasia Punctata 2, X-Linked:

32
Bone, Skin, Eye

Animal Models for Chondrodysplasia Punctata 2, X-Linked or affiliated genes

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Publications for Chondrodysplasia Punctata 2, X-Linked

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Articles related to Chondrodysplasia Punctata 2, X-Linked:

idTitleAuthorsYear
1
Chondrodysplasia Punctata 2, X-Linked (21634086)
1993

Variations for Chondrodysplasia Punctata 2, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Chondrodysplasia Punctata 2, X-Linked:

64
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 2, X-Linked:

6
id Gene Name 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 2, X-Linked

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Expression patterns in normal tissues for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

Search GEO for disease gene expression data for Chondrodysplasia Punctata 2, X-Linked.

Pathways for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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Compounds for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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GO Terms for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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Products for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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  • Antibodies
  • Proteins
  • Lysates

Sources for Chondrodysplasia Punctata 2, X-Linked

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet