CDPX2
MCID: XLN229
MIFTS: 23

X-Linked Chondrodysplasia Punctata 2 (CDPX2)

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

Aliases & Classifications for X-Linked Chondrodysplasia Punctata 2

MalaCards integrated aliases for X-Linked Chondrodysplasia Punctata 2:

Name: X-Linked Chondrodysplasia Punctata 2 12 25 15
Happle Syndrome 12 24 25
Chondrodysplasia Punctata 2, X-Linked 24 25
Conradi-Hünermann Syndrome 24 25
X-Linked Dominant Chondrodysplasia Punctata 25
Conradi-Hünermann-Happle Syndrome 25
Conradi-Hunermann Syndrome 12
Cdpx2 25

Characteristics:

GeneReviews:

24
Penetrance No unaffected males or females with an ebp pathogenic variant have been reported; thus, penetrance appears to be complete. some women have been so mildly affected that they were identified only after having had a child with more severe features in whom cdxp2 was diagnosed. although these adult women have subtle findings, their findings are sufficient to consider them affected.

Classifications:



External Ids:

Disease Ontology 12 DOID:0080352

Summaries for X-Linked Chondrodysplasia Punctata 2

Genetics Home Reference : 25 X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the signs and symptoms of this condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays as spots (stippling) near the ends of bones and in cartilage. In this form of chondrodysplasia punctata, the stippling typically affects the long bones in the arms and legs, the ribs, the spinal bones (vertebrae), and the cartilage that makes up the windpipe (trachea). The stippling is apparent in infancy but disappears in early childhood. Other skeletal abnormalities seen in people with X-linked chondrodysplasia punctata 2 include shortening of the bones in the upper arms and thighs (rhizomelia) that is often different on the right and left sides, and progressive abnormal curvature of the spine (kyphoscoliosis). As a result of these abnormalities, people with this condition tend to have short stature. Infants with X-linked chondrodysplasia punctata 2 are born with dry, scaly patches of skin (ichthyosis) in a linear or spiral (whorled) pattern. The scaly patches fade over time, leaving abnormally colored blotches of skin without hair (follicular atrophoderma). Most affected individuals also have sparse, coarse hair on their scalps. Most people with X-linked chondrodysplasia punctata 2 have clouding of the lens of the eye (cataracts) from birth or early childhood. Other eye abnormalities that have been associated with this disorder include unusually small eyes (microphthalmia) and small corneas (microcornea). The cornea is the clear front surface of the eye. These eye abnormalities can impair vision. In affected females, X-linked chondrodysplasia punctata 2 is typically associated with normal intelligence and a normal lifespan. However, a much more severe form of the condition has been reported in a small number of males. Affected males have some of the same features as affected females, as well as weak muscle tone (hypotonia), changes in the structure of the brain, moderately to profoundly delayed development, seizures, distinctive facial features, and other birth defects. The health problems associated with X-linked chondrodysplasia punctata 2 are often life-threatening in males.

MalaCards based summary : X-Linked Chondrodysplasia Punctata 2, also known as happle syndrome, is related to chondrodysplasia punctata 2, x-linked dominant and bazex syndrome. Affiliated tissues include skin, bone and eye.

Disease Ontology : 12 A chondrodysplasia puncata that has material basis in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.

GeneReviews: NBK55062

Related Diseases for X-Linked Chondrodysplasia Punctata 2

Diseases in the Chondrodysplasia Punctata 2, X-Linked Dominant family:

Chondrodysplasia Punctata 1, X-Linked Recessive X-Linked Chondrodysplasia Punctata 1
X-Linked Chondrodysplasia Punctata 2

Diseases related to X-Linked Chondrodysplasia Punctata 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata 2, x-linked dominant 12.4
2 bazex syndrome 11.6
3 greenberg dysplasia 11.6
4 smith-lemli-opitz syndrome 11.2
5 peroxisomal disease 10.5
6 alopecia 10.5
7 keratosis 10.4
8 ichthyosis 10.4
9 down syndrome 10.3
10 3-methylglutaconic aciduria, type iii 10.3
11 fetal alcohol syndrome 10.3
12 alcohol-related birth defect 10.3
13 axenfeld-rieger syndrome 10.3
14 bronchitis 10.3
15 chromosomal triplication 10.3
16 skin atrophy 10.3
17 polydactyly, postaxial, type a1 10.3
18 cryptorchidism, unilateral or bilateral 10.3
19 pili torti, early-onset 10.3
20 ichthyosis, x-linked 10.3
21 incontinentia pigmenti 10.3
22 hydrocephalus 10.3
23 dyskeratosis congenita 10.3
24 pili torti 10.3
25 skeletal dysplasias 10.3
26 cataract 10.3
27 chondrodysplasia punctata syndrome 10.3
28 suppression amblyopia 10.3
29 amblyopia 10.3
30 rickets 10.3
31 hydronephrosis 10.3
32 scoliosis 10.2
33 erythrokeratoderma ''en cocardes'' 10.2
34 chromosome 2q35 duplication syndrome 10.1
35 mend syndrome 10.1
36 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.1
37 polydactyly 10.1
38 alacrima, achalasia, and mental retardation syndrome 10.1
39 x-linked chondrodysplasia punctata 1 10.1
40 47, xxy 10.1
41 monocular esotropia 10.1
42 esotropia 10.1
43 acanthosis nigricans 9.9
44 ichthyosis vulgaris 9.9
45 nevus, epidermal 9.9
46 dowling-degos disease 1 9.9
47 mowat-wilson syndrome 9.9
48 opitz gbbb syndrome, type i 9.9
49 alopecia, congenital 9.9
50 ptosis 9.9

Graphical network of the top 20 diseases related to X-Linked Chondrodysplasia Punctata 2:



Diseases related to X-Linked Chondrodysplasia Punctata 2

Symptoms & Phenotypes for X-Linked Chondrodysplasia Punctata 2

Drugs & Therapeutics for X-Linked Chondrodysplasia Punctata 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202

Search NIH Clinical Center for X-Linked Chondrodysplasia Punctata 2

Genetic Tests for X-Linked Chondrodysplasia Punctata 2

Anatomical Context for X-Linked Chondrodysplasia Punctata 2

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

40
Skin, Bone, Eye, Brain, Trachea, Liver, Testes

Publications for X-Linked Chondrodysplasia Punctata 2

Articles related to X-Linked Chondrodysplasia Punctata 2:

(show top 50) (show all 89)
# Title Authors PMID Year
1
Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome). 61 24
14726822 2004
2
Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. 61 24
12503101 2003
3
X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. 61 24
12503102 2003
4
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). 61 24
12509714 2002
5
Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. 61 24
11038443 2000
6
The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. 61 24
10942423 2000
7
Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko. 61 24
10398252 1999
8
Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com. 61 24
10391218 1999
9
Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. 61 24
10096601 1999
10
XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome) 61 24
7677157 1995
11
Malformation syndromes caused by disorders of cholesterol synthesis. 24
20929975 2011
12
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. 24
20949533 2010
13
Mutational spectrum of NSDHL in CHILD syndrome. 24
15689440 2005
14
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata. 24
12483303 2003
15
Spinal deformity in chondrodysplasia punctata. 24
12634559 2002
16
Comment on Traupe's tribute to Rudolf Happle. 24
11424147 2001
17
X-Linked dominant disorders of cholesterol biosynthesis in man and mouse. 24
11111102 2000
18
Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta 8, Delta 7-isomerase. 24
11038450 2000
19
CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. 24
10710233 2000
20
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. 24
10710235 2000
21
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. 24
10391219 1999
22
[Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature]. 24
8341225 1993
23
[X-chromosome dominant chondrodysplasia punctata (Happle) in a boy]. 24
1597371 1992
24
Lethal course of X-linked dominant chondrodysplasia punctata in a male newborn. 24
2566519 1989
25
Conradi-Hunerman syndrome. Case report. 24
3674654 1987
26
Acute skin manifestations of Conradi-Huenermann syndrome in a male adult. 24
4026347 1985
27
Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata. 24
7460383 1981
28
X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. 24
535904 1979
29
Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma. 61
31206590 2020
30
Case of Conradi-Hünermann-Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*). 61
30809841 2019
31
De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi-Hünermann-Happle syndrome. 61
31428380 2019
32
Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation. 61
31034146 2019
33
Lichenoid folliculitis of the scalp in four patients with ichthyosiform skin disorders and cicatricial alopecia. 61
30734338 2019
34
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome. 61
30135486 2018
35
Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations. 61
29851033 2018
36
[Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2]. 61
30098249 2018
37
Dystrophic calcifications point the way-Unusual and early diagnostic clue of Conradi-Hünermann-Happle syndrome. 61
29693062 2018
38
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. 61
28730607 2017
39
Unfused Liver Segments: a Case Report of an Unknown Phenotype of the Conradi-Hünermann-Happle Syndrome. 61
27981312 2016
40
Cutis tricolor: a literature review and report of five new cases. 61
27942472 2016
41
Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract. 61
27525896 2016
42
Inherited ichthyosis: Syndromic forms. 61
26945533 2016
43
Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation. 61
26075358 2015
44
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. 61
25846959 2015
45
Emopamil binding protein mutation in conradi-hünermann-happle syndrome representing plaque-type psoriasis. 61
25814754 2015
46
Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C). 61
24915996 2014
47
An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. 61
24459067 2014
48
The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome. 61
24036494 2014
49
TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease. 61
25566323 2014
50
Garcia-Hafner-Happle syndrome: A case report and review of a rare sub-type of epidermal nevus syndrome. 61
24891911 2014

Variations for X-Linked Chondrodysplasia Punctata 2

Expression for X-Linked Chondrodysplasia Punctata 2

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

Pathways for X-Linked Chondrodysplasia Punctata 2

GO Terms for X-Linked Chondrodysplasia Punctata 2

Sources for X-Linked Chondrodysplasia Punctata 2

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63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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