MCID: CHN039
MIFTS: 35

Chondrodysplasia Punctata, X-Linked Dominant malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases, Eye diseases, Skin diseases

Aliases & Classifications for Chondrodysplasia Punctata, X-Linked Dominant

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

Name: Chondrodysplasia Punctata, X-Linked Dominant 49 11 45
Cdpx2 45 47 67
Chondrodysplasia Punctata 2, X-Linked Dominant 67 24
Happle Syndrome 45 67
Chondrodysplasia Punctata, X-Linked Dominant Type 65
Chondrodysplasia Punctata 2 X-Linked Dominant 45
Conradi-Hunermann-Happle Syndrome 67
 
Conrad Hunermann Happle Syndrome 45
Conradi Hunermann Syndrome 45
Conradi-Hunermann Syndrome 67
Cartilage-Hair Hypoplasia 65
Cdpxd 45
Cpxd 45
Chh 67

Characteristics:

HPO:

61
chondrodysplasia punctata, x-linked dominant:
Onset and clinical course: variable expressivity, congenital onset
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 302960
MeSH36 D002806
UMLS65 C0282102

Summaries for Chondrodysplasia Punctata, X-Linked Dominant

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NIH Rare Diseases:45 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 2, x-linked and cartilage-hair hypoplasia, and has symptoms including asymmetric growth, abnormal hair quantity and ichthyosis. An important gene associated with Chondrodysplasia Punctata, X-Linked Dominant is EBP (Emopamil Binding Protein (Sterol Isomerase)), and among its related pathways are Terpenoid backbone biosynthesis and cholesterol biosynthesis II (via 24,25-dihydrolanosterol). Affiliated tissues include bone, eye and skin.

OMIM:49 Chondrodysplasia punctata (CDP) is a clinically and genetically heterogeneous disorder characterized by punctiform... (302960) more...

UniProtKB/Swiss-Prot:67 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 the top 20 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

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

(show all 66)
id Description Frequency HPO Source Accession
1 asymmetric growth hallmark (90%) HP:0100555
2 abnormal hair quantity hallmark (90%) HP:0011362
3 ichthyosis hallmark (90%) HP:0008064
4 short stature hallmark (90%) HP:0004322
5 kyphosis hallmark (90%) HP:0002808
6 abnormal joint morphology hallmark (90%) HP:0001367
7 abnormality of the fingernails hallmark (90%) HP:0001231
8 ptosis hallmark (90%) HP:0000508
9 epicanthus hallmark (90%) HP:0000286
10 optic atrophy typical (50%) HP:0000648
11 abnormality of hair texture occasional (7.5%) HP:0010719
12 hypoplasia of the zygomatic bone occasional (7.5%) HP:0010669
13 limb undergrowth occasional (7.5%) HP:0009826
14 aplasia/hypoplasia of the skin occasional (7.5%) HP:0008065
15 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
16 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
17 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
18 abnormality of the hip bone occasional (7.5%) HP:0003272
19 frontal bossing occasional (7.5%) HP:0002007
20 talipes occasional (7.5%) HP:0001883
21 foot polydactyly occasional (7.5%) HP:0001829
22 cataract occasional (7.5%) HP:0000518
23 microcornea occasional (7.5%) HP:0000482
24 sensorineural hearing impairment occasional (7.5%) HP:0000407
25 malar flattening occasional (7.5%) HP:0000272
26 abnormality of the teeth occasional (7.5%) HP:0000164
27 postaxial polydactyly rare (5%) HP:0100259
28 hemiatrophy HP:0100556
29 flat face HP:0012368
30 concave nasal ridge HP:0011120
31 epiphyseal stippling HP:0010655
32 postnatal growth retardation HP:0008897
33 punctate vertebral calcifications HP:0008420
34 tarsal stippling HP:0008131
35 congenital ichthyosiform erythroderma HP:0007431
36 stippled calcification in carpal bones HP:0004241
37 elevated 8(9)-cholestenol HP:0003465
38 elevated 8-dehydrocholesterol HP:0003462
39 patellar dislocation HP:0002999
40 hemivertebrae HP:0002937
41 tracheal calcification HP:0002787
42 tracheal stenosis HP:0002777
43 scoliosis HP:0002650
44 abnormality of pelvic girdle bone morphology HP:0002644
45 intellectual disability, moderate HP:0002342
46 frontal bossing HP:0002007
47 bilateral talipes equinovarus HP:0001776
48 alopecia HP:0001596
49 polyhydramnios HP:0001561
50 failure to thrive HP:0001508
51 dandy-walker malformation HP:0001305
52 erythroderma HP:0001019
53 edema HP:0000969
54 abnormality of the thorax HP:0000765
55 sparse eyelashes HP:0000653
56 nystagmus HP:0000639
57 microphthalmia HP:0000568
58 sparse eyebrow HP:0000535
59 cataract HP:0000518
60 glaucoma HP:0000501
61 downslanted palpebral fissures HP:0000494
62 short neck HP:0000470
63 abnormality of the pinna HP:0000377
64 hearing impairment HP:0000365
65 malar flattening HP:0000272
66 hydronephrosis HP:0000126

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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Anatomical Context for Chondrodysplasia Punctata, X-Linked Dominant

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

33
Bone, Eye, Skin

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

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MGI Mouse Phenotypes related to Chondrodysplasia Punctata, X-Linked Dominant:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Chondrodysplasia Punctata, X-Linked Dominant

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Articles related to Chondrodysplasia Punctata, X-Linked Dominant:

idTitleAuthorsYear
1
Magnetic resonance imaging features of pathologically proven cerebral sparganosis. (23680666)
2013

Variations for Chondrodysplasia Punctata, X-Linked Dominant

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

67
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)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, IVS3DS, 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
11EBPNM_006579.2(EBP): c.141G> T (p.Trp47Cys)single nucleotide variantPathogenicrs587783599GRCh37Chr X, 48382300: 48382300
12EBPNM_006579.2(EBP): c.182G> A (p.Trp61Ter)single nucleotide variantPathogenicrs587783600GRCh37Chr X, 48382341: 48382341
13EBPNM_006579.2(EBP): c.204G> T (p.Trp68Cys)single nucleotide variantLikely pathogenicrs587783601GRCh37Chr X, 48382363: 48382363
14EBPNM_006579.2(EBP): c.214T> C (p.Cys72Arg)single nucleotide variantLikely pathogenicrs587783602GRCh37Chr X, 48382373: 48382373
15EBPNM_006579.2(EBP): c.218G> A (p.Gly73Glu)single nucleotide variantLikely 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)single nucleotide variantLikely pathogenicrs587783605GRCh37Chr X, 48382458: 48382458
18EBPNM_006579.2(EBP): c.301+2T> Asingle nucleotide variantPathogenicrs587783606GRCh37Chr X, 48382462: 48382462
19EBPNM_006579.2(EBP): c.303G> T (p.Trp101Cys)single nucleotide variantLikely pathogenicrs587783607GRCh37Chr X, 48385378: 48385378
20EBPNM_006579.2(EBP): c.304A> T (p.Lys102Ter)single nucleotide variantPathogenicrs587783608GRCh37Chr X, 48385379: 48385379
21EBPNM_006579.2(EBP): c.310T> C (p.Tyr104His)single nucleotide variantPathogenicrs587783609GRCh37Chr X, 48385385: 48385385
22EBPNM_006579.2(EBP): c.311A> G (p.Tyr104Cys)single nucleotide variantLikely pathogenicrs587783610GRCh37Chr X, 48385386: 48385386
23EBPNM_006579.2(EBP): c.314C> A (p.Ala105Asp)single nucleotide variantLikely pathogenicrs587783611GRCh37Chr X, 48385389: 48385389
24EBPNM_006579.2(EBP): c.320G> A (p.Gly107Glu)single nucleotide variantLikely pathogenicrs587783612GRCh37Chr X, 48385395: 48385395
25EBPNM_006579.2(EBP): c.328C> T (p.Arg110Ter)single nucleotide variantPathogenicrs587783613GRCh37Chr X, 48385403: 48385403
26EBPNM_006579.2(EBP): c.331T> C (p.Tyr111His)single nucleotide variantLikely 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)single nucleotide variantPathogenicrs587783616GRCh37Chr X, 48386632: 48386632
29EBPNM_006579.2(EBP): c.481G> A (p.Gly161Arg)single nucleotide variantLikely pathogenicrs587783617GRCh37Chr X, 48386633: 48386633
30EBPNM_006579.2(EBP): c.527A> G (p.His176Arg)single nucleotide variantLikely pathogenicrs587783618GRCh37Chr X, 48386679: 48386679
31EBPNM_006579.2(EBP): c.632T> G (p.Leu211Arg)single nucleotide variantLikely 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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Sources for Chondrodysplasia Punctata, X-Linked Dominant

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet