CDPX2
MCID: CHN074
MIFTS: 48

Chondrodysplasia Punctata 2, X-Linked Dominant (CDPX2)

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

Aliases & Classifications for Chondrodysplasia Punctata 2, X-Linked Dominant

MalaCards integrated aliases for Chondrodysplasia Punctata 2, X-Linked Dominant:

Name: Chondrodysplasia Punctata 2, X-Linked Dominant 57 72
Cdpx2 57 20 58 72 54
Chondrodysplasia Punctata, X-Linked Dominant 57 20 13
Conradi-Hunermann-Happle Syndrome 57 58 72
Happle Syndrome 57 20 72
Cdpxd 57 20 58
Cpxd 57 20 58
Chondrodysplasia Punctata 2 X-Linked Dominant 29 6
Conradi-Hunermann Syndrome 57 72
Chondrodysplasia Punctata, Type 2, X-Linked Dominant 39
Chondrodysplasia Punctata, X-Linked Dominant Type 70
X-Linked Dominant Chondrodysplasia Punctata 2 20
X-Linked Dominant Chondrodysplasia Punctata 58
X-Linked Chondrodysplasia Punctata Type 2 58
Chondrodystrophia Calcificans Congenita 58
Conrad Hunermann Happle Syndrome 20
Conradi-Hünermann Syndrome 73
Conradi Hunermann Syndrome 20
Chondrodysplasia Punctata 70
Cdpxd; Cpxd 57
Chh 72

Characteristics:

Orphanet epidemiological data:

58
x-linked dominant chondrodysplasia punctata
Inheritance: X-linked dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
variable severity
onset at birth
virtually all patients are female
surviving males are postzygotic mosaic for ebp mutations
skin erythroderma may resolve early, leaving atrophic lesions

Inheritance:
x-linked dominant


HPO:

31
chondrodysplasia punctata 2, x-linked dominant:
Onset and clinical course variable expressivity congenital onset
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Chondrodysplasia Punctata 2, X-Linked Dominant

GARD : 20 X-linked dominant chondrodysplasia punctata 2 (CDPX2), also known as Conradi-Hunermann-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.

MalaCards based summary : Chondrodysplasia Punctata 2, X-Linked Dominant, also known as cdpx2, is related to x-linked chondrodysplasia punctata 2 and smith-lemli-opitz syndrome, and has symptoms including edema An important gene associated with Chondrodysplasia Punctata 2, X-Linked Dominant is EBP (EBP Cholestenol Delta-Isomerase), and among its related pathways/superpathways are Metabolism and Terpenoid backbone biosynthesis. Affiliated tissues include eye, skin and bone, and related phenotypes are polydactyly and postaxial polydactyly

OMIM® : 57 Chondrodysplasia punctata (CDP) is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. X-linked dominant CDP, also known as Conradi-Hunermann syndrome, is the most well-characterized form. CDPX2 arises almost exclusively in females and is usually lethal in males. In addition to radiographic stippling, the disorder is characterized by rhizomelic shortness, transient congenital ichthyosis following the lines of Blaschko, patchy alopecia, cataracts, and midface hypoplasia. Affected males are extremely rare and the clinical features in males almost always result from postzygotic mosaicism for an EBP mutation (summary by Aughton et al., 2003 and Arnold et al., 2012). (302960) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Conradi-H√ľnermann syndrome is a rare type of chondrodysplasia punctata. It is associated with the EBP... more...

Related Diseases for Chondrodysplasia Punctata 2, X-Linked Dominant

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 Chondrodysplasia Punctata 2, X-Linked Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 x-linked chondrodysplasia punctata 2 31.5 NSDHL EBP
2 smith-lemli-opitz syndrome 31.1 STS EBP
3 ichthyosis 29.6 STS EBP
4 mend syndrome 29.6 NSDHL EBP
5 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 29.5 NSDHL EBP
6 rhizomelic chondrodysplasia punctata 29.4 GNPAT EBP
7 chondrodysplasia punctata syndrome 29.2 STS NSDHL GNPAT EBP
8 cartilage-hair hypoplasia 11.6
9 bazex syndrome 11.3
10 anauxetic dysplasia 1 11.0
11 greenberg dysplasia 11.0
12 metaphyseal dysplasia without hypotrichosis 11.0
13 omenn syndrome 10.9
14 rhizomelic chondrodysplasia punctata, type 1 10.7
15 alopecia 10.4
16 peroxisomal disease 10.3
17 chondrocalcinosis 10.3
18 alopecia areata 10.3
19 skin atrophy 10.2
20 hyperglycemia 10.2
21 pili torti, early-onset 10.2
22 ichthyosis, x-linked 10.2
23 incontinentia pigmenti 10.2
24 hydrocephalus 10.2
25 dyskeratosis congenita 10.2
26 pili torti 10.2
27 erythrokeratoderma ''en cocardes'' 10.2
28 keratosis 10.2
29 down syndrome 10.2
30 3-methylglutaconic aciduria, type iii 10.2
31 fetal alcohol syndrome 10.2
32 alcohol-related birth defect 10.2
33 axenfeld-rieger syndrome 10.2
34 bronchitis 10.2
35 chromosomal triplication 10.2
36 scoliosis 10.1
37 osteochondrodysplasia 10.1
38 hypogonadism 10.1
39 cataract 10.0
40 monocular esotropia 10.0
41 esotropia 10.0
42 rare genetic skin disease 10.0
43 cryptorchidism, unilateral or bilateral 10.0
44 helix syndrome 10.0
45 autosomal recessive disease 10.0
46 hypogonadotropic hypogonadism 10.0
47 dysostosis 10.0
48 congenital hypogonadotropic hypogonadism 10.0
49 chromosome 2q35 duplication syndrome 9.9
50 polydactyly 9.9

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



Diseases related to Chondrodysplasia Punctata 2, X-Linked Dominant

Symptoms & Phenotypes for Chondrodysplasia Punctata 2, X-Linked Dominant

Human phenotypes related to Chondrodysplasia Punctata 2, X-Linked Dominant:

31 58 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 polydactyly 31 occasional (7.5%) HP:0010442
2 postaxial polydactyly 31 occasional (7.5%) HP:0100259
3 frontal bossing 58 31 Occasional (29-5%) HP:0002007
4 cataract 58 31 Occasional (29-5%) HP:0000518
5 flat face 58 31 Occasional (29-5%) HP:0012368
6 microphthalmia 58 31 Occasional (29-5%) HP:0000568
7 malar flattening 58 31 Occasional (29-5%) HP:0000272
8 hemiatrophy 58 31 Very frequent (99-80%) HP:0100556
9 congenital ichthyosiform erythroderma 58 31 Very frequent (99-80%) HP:0007431
10 failure to thrive 31 HP:0001508
11 scoliosis 31 HP:0002650
12 ptosis 58 Very frequent (99-80%)
13 nystagmus 31 HP:0000639
14 kyphosis 58 Very frequent (99-80%)
15 short neck 31 HP:0000470
16 hearing impairment 31 HP:0000365
17 hip dysplasia 58 Occasional (29-5%)
18 abnormality of the dentition 58 Occasional (29-5%)
19 abnormal vertebral morphology 58 Occasional (29-5%)
20 sensorineural hearing impairment 58 Occasional (29-5%)
21 optic atrophy 58 Frequent (79-30%)
22 short stature 58 Very frequent (99-80%)
23 epiphyseal stippling 31 HP:0010655
24 postnatal growth retardation 31 HP:0008897
25 epicanthus 58 Very frequent (99-80%)
26 abnormal fingernail morphology 58 Very frequent (99-80%)
27 alopecia 31 HP:0001596
28 talipes equinovarus 58 Occasional (29-5%)
29 downslanted palpebral fissures 31 HP:0000494
30 glaucoma 31 HP:0000501
31 aplasia/hypoplasia of the skin 58 Occasional (29-5%)
32 clinodactyly of the 5th finger 58 Occasional (29-5%)
33 polyhydramnios 31 HP:0001561
34 hydronephrosis 31 HP:0000126
35 dandy-walker malformation 31 HP:0001305
36 hemivertebrae 31 HP:0002937
37 patellar dislocation 31 HP:0002999
38 abnormality of epiphysis morphology 58 Occasional (29-5%)
39 intellectual disability, moderate 31 HP:0002342
40 joint dislocation 58 Very frequent (99-80%)
41 foot polydactyly 58 Occasional (29-5%)
42 abnormality of pelvic girdle bone morphology 31 HP:0002644
43 erythema 58 Very frequent (99-80%)
44 microcornea 58 Occasional (29-5%)
45 erythroderma 31 HP:0001019
46 bilateral talipes equinovarus 31 HP:0001776
47 sparse eyelashes 31 HP:0000653
48 tracheal stenosis 31 HP:0002777
49 rhizomelia 58 Occasional (29-5%)
50 edema 31 HP:0000969

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
frontal bossing
flat face
hypoplasia of malar eminences

Head And Neck Eyes:
nystagmus
glaucoma
downslanting palpebral fissures
cataracts
microphthalmos

Skin Nails Hair Skin:
ichthyosis
congenital ichthyosiform erythroderma
follicular atrophoderma
'orange peel' skin (large pores)
skin lesions follow the lines of blaschko

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
hydrops

Skin Nails Hair Hair:
sparse eyelashes
sparse eyebrows
coarse, sparse hair
patchy areas of alopecia

Laboratory Abnormalities:
elevated 8-dehydrocholesterol
elevated 8(9)-cholestenol

Skeletal Feet:
bilateral club feet
punctate calcifications of tarsals

Skeletal Hands:
postaxial polydactyly (rare)
punctate calcifications of carpals

Chest Ribs Sternum Clavicles And Scapulae:
punctate calcific stippling sternum, ribs, coracoid process, and glenoid fossae of scapula

Skeletal Spine:
scoliosis
hemivertebrae
vertebral calcifications

Head And Neck Neck:
short neck

Skeletal Limbs:
epiphyseal stippling
dislocation of patella
asymmetric limb shortening

Genitourinary Kidneys:
hydronephrosis

Respiratory Airways:
tracheal stenosis
tracheal calcifications

Head And Neck Ears:
hearing loss
dysplastic ears

Head And Neck Nose:
saddle nose

Growth Other:
failure to thrive (early infancy)
mild to moderate growth deficiency

Skeletal Pelvis:
calcific deposits of ischium and pubis

Clinical features from OMIM®:

302960 (Updated 20-May-2021)

UMLS symptoms related to Chondrodysplasia Punctata 2, X-Linked Dominant:


edema

Drugs & Therapeutics for Chondrodysplasia Punctata 2, X-Linked Dominant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186
2 A Prospective Natural History Study of Patients With Rhizomelic Chondrodysplasia Punctata (RCDP) Recruiting NCT04031287
3 Rhizomelic Chondrodysplasia Punctata Registry at A.I. duPont Hospital for Children Recruiting NCT04569162

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

Genetic Tests for Chondrodysplasia Punctata 2, X-Linked Dominant

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

# Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 2 X-Linked Dominant 29 EBP

Anatomical Context for Chondrodysplasia Punctata 2, X-Linked Dominant

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

40
Eye, Skin, Bone

Publications for Chondrodysplasia Punctata 2, X-Linked Dominant

Articles related to Chondrodysplasia Punctata 2, X-Linked Dominant:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata. 54 61 57 6
12483303 2003
2
X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. 61 57 6 54
12503102 2003
3
Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com. 6 61 54 57
10391218 1999
4
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. 6 57 61
10391219 1999
5
XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome) 57 6
7677157 1995
6
Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation. 6 57
1355069 1992
7
Two novel EBP mutations in Conradi-Hünermann-Happle syndrome. 57 54 61
18573709 2008
8
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). 57 54 61
12509714 2002
9
Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. 61 57 54
11038443 2000
10
The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. 6 61 54
10942423 2000
11
Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects). 61 57
22229330 2012
12
Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome. 6 54
15368506 2004
13
Close linkage of the murine locus bare patches to the X-linked visual pigment gene: implications for mapping human X-linked dominant chondrodysplasia punctata. 57 61
1973136 1990
14
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. 57
12668600 2003
15
Lethal non-rhizomelic dysplasia epiphysealis punctata. 57
12072802 2002
16
Comment on Traupe's tribute to Rudolf Happle. 57
11424147 2001
17
Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko. 57
10398252 1999
18
The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. 57
10369263 1999
19
Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. 57
10096601 1999
20
Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. 57
9288105 1997
21
Chromosomal mapping and developmental study of Tattered-Hokkaido (Tdho). 57
9250864 1997
22
The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization. 57
8921395 1996
23
Ichthyotic and psoriasiform skin lesions along Blaschko's lines in a woman with X-linked dominant chondrodysplasia punctata. 57
7615885 1995
24
X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males. 57
7677158 1995
25
Craniofrontonasal dysplasia. 57
1468459 1992
26
X-linked dominant Conradi-Hünermann syndrome presenting as congenital erythroderma. 57
2527874 1989
27
Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations. 57
2817774 1989
28
Sectorial cataract: a possible example of lyonisation. 57
6137740 1983
29
Homologous genes for X-linked chondrodysplasia punctata in man and mouse. 57
6682087 1983
30
Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive. 57
6770678 1980
31
Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata. 57
7363504 1980
32
Skin markers of X-linked dominant chondrodysplasia punctata. 57
464620 1979
33
X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. 57
535904 1979
34
Sex-linked chondrodysplasia punctata? 57
830452 1977
35
Letter: Half chromatid mutations may explain incontinentia pigmenti in males. 57
1163541 1975
36
Chondrodystrophia calcificans congenita (Conradi's disease) in a mother and her child. 57
5054808 1972
37
Heterogeneity of Chondrodysplasia punctata. 57
5544780 1971
38
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata. 61 54
18395876 2008
39
Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome. 54 61
17949453 2007
40
Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata. 61 54
17625999 2007
41
Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome. 61 54
15953085 2005
42
Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata. 61 54
12975777 2003
43
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. 54 61
12503101 2003
44
Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hünermann-Happle syndrome. 54 61
11493318 2001
45
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. 54 61
10710235 2000
46
X-linked dominant chondrodysplasia punctata with decreased dihydroxyacetone phosphate acyltransferase activity. 54 61
8832947 1996
47
Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation. 61
31034146 2019
48
Chondrodysplasia punctata (CDPX2) in a male caused by single-gene mosaicism: A 20-year follow-up. 61
30294782 2019
49
X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report. 61
30608402 2019
50
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome. 61
30135486 2018

Variations for Chondrodysplasia Punctata 2, X-Linked Dominant

ClinVar genetic disease variations for Chondrodysplasia Punctata 2, X-Linked Dominant:

6 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EBP NM_006579.3(EBP):c.87G>A (p.Trp29Ter) SNV Pathogenic 11483 rs104894798 GRCh37: X:48382246-48382246
GRCh38: X:48523858-48523858
2 EBP NM_006579.3(EBP):c.187C>T (p.Arg63Ter) SNV Pathogenic 11484 rs104894799 GRCh37: X:48382346-48382346
GRCh38: X:48523958-48523958
3 EBP NM_006579.3(EBP):c.238G>A (p.Glu80Lys) SNV Pathogenic 11485 rs104894800 GRCh37: X:48382397-48382397
GRCh38: X:48524009-48524009
4 EBP NM_006579.3(EBP):c.338+1G>T SNV Pathogenic 11486 rs1569479885 GRCh37: X:48385414-48385414
GRCh38: X:48527026-48527026
5 EBP NM_006579.3(EBP):c.390del (p.Pro131fs) Deletion Pathogenic 11487 rs1569479901 GRCh37: X:48385594-48385594
GRCh38: X:48527206-48527206
6 EBP NM_006579.3(EBP):c.586_587insA (p.Trp196Ter) Insertion Pathogenic 11488 rs1569480016 GRCh37: X:48386738-48386739
GRCh38: X:48528350-48528351
7 EBP NM_006579.3(EBP):c.386G>A (p.Trp129Ter) SNV Pathogenic 11489 rs104894792 GRCh37: X:48385590-48385590
GRCh38: X:48527202-48527202
8 EBP NM_006579.3(EBP):c.523C>T (p.Gln175Ter) SNV Pathogenic 11490 rs104894793 GRCh37: X:48386675-48386675
GRCh38: X:48528287-48528287
9 EBP NM_006579.3(EBP):c.587G>A (p.Trp196Ter) SNV Pathogenic 11491 rs104894794 GRCh37: X:48386739-48386739
GRCh38: X:48528351-48528351
10 EBP NM_006579.3(EBP):c.440G>A (p.Arg147His) SNV Pathogenic 11492 rs28935174 GRCh37: X:48385644-48385644
GRCh38: X:48527256-48527256
11 EBP NM_006579.3(EBP):c.182G>A (p.Trp61Ter) SNV Pathogenic 158532 rs587783600 GRCh37: X:48382341-48382341
GRCh38: X:48523953-48523953
12 EBP NM_006579.3(EBP):c.292_296del (p.Ser98fs) Deletion Pathogenic 158536 rs587783604 GRCh37: X:48382450-48382454
GRCh38: X:48524062-48524066
13 EBP NM_006579.3(EBP):c.301+2T>A SNV Pathogenic 158538 rs587783606 GRCh37: X:48382462-48382462
GRCh38: X:48524074-48524074
14 EBP NM_006579.3(EBP):c.304A>T (p.Lys102Ter) SNV Pathogenic 158540 rs587783608 GRCh37: X:48385379-48385379
GRCh38: X:48526991-48526991
15 EBP NM_006579.3(EBP):c.310T>C (p.Tyr104His) SNV Pathogenic 158541 rs587783609 GRCh37: X:48385385-48385385
GRCh38: X:48526997-48526997
16 EBP NM_006579.3(EBP):c.462_463CT[1] (p.Ser155fs) Microsatellite Pathogenic 158548 rs587783615 GRCh37: X:48385665-48385666
GRCh38: X:48527277-48527278
17 EBP NM_006579.3(EBP):c.480T>G (p.Tyr160Ter) SNV Pathogenic 158549 rs587783616 GRCh37: X:48386632-48386632
GRCh38: X:48528244-48528244
18 EBP NM_006579.3(EBP):c.328C>T (p.Arg110Ter) SNV Pathogenic 158545 rs587783613 GRCh37: X:48385403-48385403
GRCh38: X:48527015-48527015
19 EBP NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs) Indel Pathogenic 210905 rs797045546 GRCh37: X:48385627-48385631
GRCh38: X:48527239-48527243
20 EBP NM_006579.3(EBP):c.225dup (p.His76fs) Duplication Pathogenic 210902 rs797045543 GRCh37: X:48382382-48382383
GRCh38: X:48523994-48523995
21 EBP NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter) Duplication Pathogenic 210903 rs797045544 GRCh37: X:48385403-48385404
GRCh38: X:48527015-48527016
22 EBP NM_006579.3(EBP):c.484dup (p.Asp162fs) Duplication Pathogenic 210906 rs797045547 GRCh37: X:48386632-48386633
GRCh38: X:48528244-48528245
23 EBP NM_006579.3(EBP):c.261C>G (p.Tyr87Ter) SNV Pathogenic 803990 rs145509273 GRCh37: X:48382420-48382420
GRCh38: X:48524032-48524032
24 EBP NM_006579.3(EBP):c.504_505AG[1] (p.Glu169fs) Microsatellite Pathogenic 803991 rs1602091152 GRCh37: X:48386656-48386657
GRCh38: X:48528268-48528269
25 EBP NM_006579.3(EBP):c.203G>A (p.Trp68Ter) SNV Pathogenic 989351 GRCh37: X:48382362-48382362
GRCh38: X:48523974-48523974
26 EBP NM_006579.3(EBP):c.329G>A (p.Arg110Gln) SNV Pathogenic 807598 rs1602090481 GRCh37: X:48385404-48385404
GRCh38: X:48527016-48527016
27 EBP NM_006579.3(EBP):c.141G>T (p.Trp47Cys) SNV Pathogenic 158530 rs587783599 GRCh37: X:48382300-48382300
GRCh38: X:48523912-48523912
28 EBP NM_006579.3(EBP):c.331T>C (p.Tyr111His) SNV Likely pathogenic 158546 rs587783614 GRCh37: X:48385406-48385406
GRCh38: X:48527018-48527018
29 EBP NM_006579.3(EBP):c.201_203dup (p.Cys67dup) Duplication Likely pathogenic 210901 rs797045542 GRCh37: X:48382357-48382358
GRCh38: X:48523969-48523970
30 EBP NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly) Indel Likely pathogenic 210904 rs797045545 GRCh37: X:48385573-48385583
GRCh38: X:48527185-48527195
31 EBP NM_006579.3(EBP):c.481G>A (p.Gly161Arg) SNV Likely pathogenic 158550 rs587783617 GRCh37: X:48386633-48386633
GRCh38: X:48528245-48528245
32 EBP NM_006579.3(EBP):c.527A>G (p.His176Arg) SNV Likely pathogenic 158552 rs587783618 GRCh37: X:48386679-48386679
GRCh38: X:48528291-48528291
33 EBP NM_006579.3(EBP):c.632T>G (p.Leu211Arg) SNV Likely pathogenic 158553 rs587783619 GRCh37: X:48386784-48386784
GRCh38: X:48528396-48528396
34 EBP NM_006579.3(EBP):c.311A>G (p.Tyr104Cys) SNV Likely pathogenic 158542 rs587783610 GRCh37: X:48385386-48385386
GRCh38: X:48526998-48526998
35 EBP NM_006579.3(EBP):c.314C>A (p.Ala105Asp) SNV Likely pathogenic 158543 rs587783611 GRCh37: X:48385389-48385389
GRCh38: X:48527001-48527001
36 EBP NM_006579.3(EBP):c.320G>A (p.Gly107Glu) SNV Likely pathogenic 158544 rs587783612 GRCh37: X:48385395-48385395
GRCh38: X:48527007-48527007
37 EBP NM_006579.3(EBP):c.303G>T (p.Trp101Cys) SNV Likely pathogenic 158539 rs587783607 GRCh37: X:48385378-48385378
GRCh38: X:48526990-48526990
38 EBP NM_006579.3(EBP):c.299T>C (p.Leu100Pro) SNV Likely pathogenic 158537 rs587783605 GRCh37: X:48382458-48382458
GRCh38: X:48524070-48524070
39 EBP NM_006579.3(EBP):c.204G>T (p.Trp68Cys) SNV Likely pathogenic 158533 rs587783601 GRCh37: X:48382363-48382363
GRCh38: X:48523975-48523975
40 EBP NM_006579.3(EBP):c.214T>C (p.Cys72Arg) SNV Likely pathogenic 158534 rs587783602 GRCh37: X:48382373-48382373
GRCh38: X:48523985-48523985
41 EBP NM_006579.3(EBP):c.218G>A (p.Gly73Glu) SNV Likely pathogenic 158535 rs587783603 GRCh37: X:48382377-48382377
GRCh38: X:48523989-48523989
42 EBP NM_006579.3(EBP):c.511C>T (p.Arg171Cys) SNV Conflicting interpretations of pathogenicity 158551 rs141925556 GRCh37: X:48386663-48386663
GRCh38: X:48528275-48528275
43 EBP NM_006579.3(EBP):c.684_686GAA[1] (p.Lys229del) Microsatellite Uncertain significance 158554 rs587783620 GRCh37: X:48386834-48386836
GRCh38: X:48528446-48528448
44 EBP NM_006579.3(EBP):c.382C>T (p.Leu128=) SNV Uncertain significance 158547 rs142881014 GRCh37: X:48385586-48385586
GRCh38: X:48527198-48527198

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

72
# Symbol AA change Variation ID SNP ID
1 EBP p.Glu80Lys VAR_012105 rs104894800
2 EBP p.Arg110Gln VAR_012106
3 EBP p.Arg147Gly VAR_012107
4 EBP p.Arg147His VAR_012108 rs28935174
5 EBP p.Glu103Lys VAR_074637

Expression for Chondrodysplasia Punctata 2, X-Linked Dominant

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

Pathways for Chondrodysplasia Punctata 2, X-Linked Dominant

GO Terms for Chondrodysplasia Punctata 2, X-Linked Dominant

Cellular components related to Chondrodysplasia Punctata 2, X-Linked Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.13 STS NSDHL EBP
2 endoplasmic reticulum membrane GO:0005789 8.8 STS NSDHL EBP

Biological processes related to Chondrodysplasia Punctata 2, X-Linked Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.5 STS NSDHL EBP
2 cholesterol metabolic process GO:0008203 9.37 NSDHL EBP
3 steroid biosynthetic process GO:0006694 9.26 NSDHL EBP
4 cholesterol biosynthetic process GO:0006695 9.16 NSDHL EBP
5 sterol biosynthetic process GO:0016126 8.96 NSDHL EBP
6 steroid metabolic process GO:0008202 8.8 STS NSDHL EBP

Sources for Chondrodysplasia Punctata 2, X-Linked Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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