CDP
MCID: CHN044
MIFTS: 43

Chondrodysplasia Punctata Syndrome (CDP)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chondrodysplasia Punctata Syndrome

MalaCards integrated aliases for Chondrodysplasia Punctata Syndrome:

Name: Chondrodysplasia Punctata Syndrome 57 20 70
Chondrodysplasia Punctata 12 73 20 58 29 54 44 15 70 32
Chondrodysplasia Punctata, X-Linked Dominant Type 70
Chondrodysplasia Punctata, Toriello Type 58
Chondrodysplasia Punctata Congenita 12
Toriello Higgins Miller Syndrome 20
Toriello-Higgins-Miller Syndrome 58
Cdp 58

Characteristics:

Orphanet epidemiological data:

58
chondrodysplasia punctata, toriello type
Inheritance: Autosomal recessive;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:2581
OMIM® 57 215105
MeSH 44 D002806
NCIt 50 C84632
SNOMED-CT 67 205486004
ICD10 32 Q77.3
MESH via Orphanet 45 D002806
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 71 C0008445 C1859132
UMLS 70 C0008445 C0282102 C1859132

Summaries for Chondrodysplasia Punctata Syndrome

Disease Ontology : 12 A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.

MalaCards based summary : Chondrodysplasia Punctata Syndrome, also known as chondrodysplasia punctata, is related to x-linked chondrodysplasia punctata 1 and x-linked chondrodysplasia punctata 2, and has symptoms including edema An important gene associated with Chondrodysplasia Punctata Syndrome is EBP (EBP Cholestenol Delta-Isomerase), and among its related pathways/superpathways are Peroxisome and Gamma carboxylation, hypusine formation and arylsulfatase activation. Affiliated tissues include skin, liver and spinal cord.

Wikipedia : 73 Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first... more...

More information from OMIM: 215105

Related Diseases for Chondrodysplasia Punctata Syndrome

Diseases in the Chondrodysplasia Punctata Syndrome family:

Chondrodysplasia Punctata, Autosomal Dominant

Diseases related to Chondrodysplasia Punctata Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 287)
# Related Disease Score Top Affiliating Genes
1 x-linked chondrodysplasia punctata 1 33.4 EBP ARSL
2 x-linked chondrodysplasia punctata 2 33.2 NSDHL EBP
3 chondrodysplasia punctata 2, x-linked dominant 33.1 STS NSDHL GNPAT EBP
4 rhizomelic chondrodysplasia punctata, type 3 32.8 PHYH PEX7 PEX5 GNPAT AGPS
5 rhizomelic chondrodysplasia punctata, type 5 32.7 PEX7 PEX5 GNPAT FAR1 AGPS
6 rhizomelic chondrodysplasia punctata, type 1 32.6 PHYH PEX7 PEX6 PEX5 PEX13 GNPAT
7 rhizomelic chondrodysplasia punctata, type 2 32.5 PHYH PEX7 PEX5 PEX16 GNPAT FAR1
8 ichthyosis 30.9 STS PHYH PEX7 EBP ARSL ARSH
9 rhizomelic chondrodysplasia punctata 30.7 PHYH PEX7 PEX6 PEX5 PEX26 PEX19
10 peroxisome biogenesis disorder 1a 30.6 PEX6 PEX5 PEX26 PEX19 PEX16 PEX13
11 ichthyosis, x-linked 30.5 STS ARSH
12 zellweger spectrum disorder 30.4 PEX6 PEX5 PEX26 PEX19 PEX16 PEX13
13 mend syndrome 30.3 NSDHL EBP
14 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 30.1 NSDHL EBP
15 peroxisome biogenesis disorder 1b 29.6 PHYH PEX7 PEX6 PEX5 PEX26 PEX19
16 sensorineural hearing loss 29.4 PEX6 PEX5 PEX26 PEX12 PEX10
17 zellweger syndrome 29.3 PHYH PEX7 PEX6 PEX5 PEX26 PEX19
18 neonatal adrenoleukodystrophy 29.1 PEX6 PEX5 PEX26 PEX19 PEX16 PEX13
19 adrenoleukodystrophy 29.0 PEX7 PEX6 PEX5 PEX26 PEX19 PEX16
20 peroxisomal disease 28.9 PHYH PEX7 PEX6 PEX5 PEX26 PEX19
21 refsum disease, classic 28.8 PHYH PEX7 PEX6 PEX5 PEX26 PEX19
22 leukodystrophy 28.6 PEX6 PEX5 PEX26 PEX19 PEX16 PEX13
23 peroxisomal biogenesis disorder 28.4 PHYH PEX7 PEX6 PEX5 PEX26 PEX19
24 chondrodysplasia punctata 1, x-linked recessive 12.0
25 chondrodysplasia punctata, autosomal dominant 11.6
26 chondrodysplasia punctata, brachytelephalangic, autosomal 11.6
27 chondrodysplasia punctata, tibia-metacarpal type 11.5
28 peroxisome biogenesis disorder 9b 11.4
29 peroxisomal fatty acyl-coa reductase 1 disorder 11.3
30 peroxisome biogenesis disorder 2a 11.2
31 peroxisome biogenesis disorder 3a 11.2
32 peroxisome biogenesis disorder 4a 11.2
33 peroxisome biogenesis disorder 5a 11.2
34 peroxisome biogenesis disorder 6a 11.2
35 peroxisome biogenesis disorder 7a 11.2
36 peroxisome biogenesis disorder 8a 11.2
37 peroxisome biogenesis disorder 10a 11.2
38 peroxisome biogenesis disorder 11a 11.2
39 peroxisome biogenesis disorder 12a 11.2
40 peroxisome biogenesis disorder 13a 11.2
41 non-rhizomelic chondrodysplasia punctata 11.2
42 chondrodysplasia punctata, humero-metacarpal type 11.2
43 chondrodysplasia punctata sheffield type 11.2
44 chondrodysplasia punctata with steroid sulfatase deficiency 11.2
45 greenberg dysplasia 11.2
46 smith-lemli-opitz syndrome 11.1
47 maxillonasal dysplasia, binder type 11.1
48 multiple sulfatase deficiency 11.1
49 bazex syndrome 11.1
50 codas syndrome 11.1

Graphical network of the top 20 diseases related to Chondrodysplasia Punctata Syndrome:



Diseases related to Chondrodysplasia Punctata Syndrome

Symptoms & Phenotypes for Chondrodysplasia Punctata Syndrome

Clinical features from OMIM®:

215105 (Updated 05-Apr-2021)

UMLS symptoms related to Chondrodysplasia Punctata Syndrome:


edema

Drugs & Therapeutics for Chondrodysplasia Punctata Syndrome

Interventional clinical trials:


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

Search NIH Clinical Center for Chondrodysplasia Punctata Syndrome

Cochrane evidence based reviews: chondrodysplasia punctata

Genetic Tests for Chondrodysplasia Punctata Syndrome

Genetic tests related to Chondrodysplasia Punctata Syndrome:

# Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 29

Anatomical Context for Chondrodysplasia Punctata Syndrome

MalaCards organs/tissues related to Chondrodysplasia Punctata Syndrome:

40
Skin, Liver, Spinal Cord, Eye, Heart, Brain, Retina

Publications for Chondrodysplasia Punctata Syndrome

Articles related to Chondrodysplasia Punctata Syndrome:

(show top 50) (show all 680)
# Title Authors PMID Year
1
Unique cardiac and cerebral anomalies with chondrodysplasia punctata. 57 61
9450859 1998
2
Provisionally unique autosomal recessive chondrodysplasia punctata syndrome. 57 61
8267015 1993
3
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. 54 61
19839041 2009
4
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata. 54 61
18395876 2008
5
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. 61 54
18348268 2008
6
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. 54 61
17206939 2007
7
Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers. 61 54
16470742 2006
8
Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion. 61 54
15309625 2004
9
Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. 61 54
15246527 2004
10
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. 61 54
12567415 2003
11
Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata. 54 61
12483303 2003
12
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). 54 61
12509714 2002
13
Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. 54 61
11260213 2001
14
Léri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: implications for genetic counselling. 54 61
11186896 2000
15
Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. 61 54
11038443 2000
16
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. 61 54
9497243 1998
17
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. 54 61
9409863 1997
18
The sulfatase gene family. 61 54
9229115 1997
19
Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. 54 61
9192838 1997
20
Abnormal myelination in peroxisomal isolated dihydroxyacetonephosphate acyltransferase deficiency. 61 54
9165515 1997
21
X-linked dominant chondrodysplasia punctata with decreased dihydroxyacetone phosphate acyltransferase activity. 61 54
8832947 1996
22
Chondrodysplasia punctata with a mild clinical course. 54 61
7914249 1994
23
Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. 54 61
1496984 1992
24
Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts. 61 54
1347505 1992
25
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. 61 54
1785631 1991
26
Long-range restriction map of the terminal part of the short arm of the human X chromosome. 61 54
2339111 1990
27
Posterior and Anterior Fusion for Severe Cervical Kyphosis in a Patient with Chondrodysplasia Punctata: A Case Report. 61
33724960 2021
28
Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B. 61
33586206 2021
29
General Movements and Developmental Functioning in an Individual with Rhizomelic Chondrodysplasia Punctata within the First Months of the Life: A Case Report. 61
33161810 2021
30
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata. 61
33337545 2020
31
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. 61
32749716 2020
32
Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC. 61
33147667 2020
33
Oral batyl alcohol supplementation rescues decreased cardiac conduction in ether phospholipid-deficient mice. 61
32441337 2020
34
Chondrodysplasia punctata and neonatal lupus in an infant with positive anti-RNP and negative anti-Ro/SSA and -La/SSB antibodies, a case report. 61
32748967 2020
35
Unequivocal Mapping of Molecular Ether Lipid Species by LC-MS/MS in Plasmalogen-Deficient Mice. 61
32692545 2020
36
Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants. 61
32506814 2020
37
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders. 61
32304187 2020
38
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. 61
31712251 2020
39
Rhizomelic chondrodysplasia punctata: Role of EEG as a biomarker of impending epilepsy. 61
31853509 2020
40
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update. 61
31769196 2020
41
The type-2 peroxisomal targeting signal. 61
31751594 2020
42
Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata. 61
31862688 2020
43
Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus. 61
32670353 2020
44
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. 61
31503224 2019
45
Leukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1-myristyl ether treatment. 61
30667116 2019
46
Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation. 61
31034146 2019
47
Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation. 61
31337364 2019
48
Chondrodysplasia Punctata: A Clue to the Zellweger Spectrum Disorders. 61
30898411 2019
49
The complementary role of imaging modalities in Binder phenotype. Can prognostic factors of neonatal respiratory distress be found? 61
31046133 2019
50
Chondrodysplasia punctata (CDPX2) in a male caused by single-gene mosaicism: A 20-year follow-up. 61
30294782 2019

Variations for Chondrodysplasia Punctata Syndrome

Expression for Chondrodysplasia Punctata Syndrome

Search GEO for disease gene expression data for Chondrodysplasia Punctata Syndrome.

Pathways for Chondrodysplasia Punctata Syndrome

GO Terms for Chondrodysplasia Punctata Syndrome

Cellular components related to Chondrodysplasia Punctata Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.25 STS PEX6 PEX5 PEX26 PEX19 PEX16
2 integral component of membrane GO:0016021 10.18 STS PEX26 PEX19 PEX16 PEX13 PEX12
3 peroxisomal matrix GO:0005782 9.8 PHYH PEX7 PEX5 GNPAT FAR1 AGPS
4 peroxisomal membrane GO:0005778 9.73 PEX7 PEX6 PEX5 PEX26 PEX19 PEX16
5 integral component of peroxisomal membrane GO:0005779 9.63 PEX26 PEX16 PEX13 PEX12 PEX10 FAR1
6 peroxisome GO:0005777 9.47 PHYH PEX7 PEX6 PEX5 PEX26 PEX19
7 peroxisomal importomer complex GO:1990429 9.37 PEX13 PEX12

Biological processes related to Chondrodysplasia Punctata Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.88 STS NSDHL FAR1 EBP AGPS ACAA1
2 skeletal system development GO:0001501 9.74 SHOX EBP ARSL
3 steroid metabolic process GO:0008202 9.72 STS NSDHL EBP
4 neuron migration GO:0001764 9.7 PEX7 PEX5 PEX13
5 protein import into peroxisome matrix GO:0016558 9.7 PEX7 PEX6 PEX5 PEX26 PEX16 PEX12
6 fatty acid beta-oxidation GO:0006635 9.65 PEX7 PEX5 ACAA1
7 protein import into peroxisome membrane GO:0045046 9.62 PEX5 PEX26 PEX19 PEX16
8 sterol biosynthetic process GO:0016126 9.58 NSDHL EBP
9 cellular lipid metabolic process GO:0044255 9.56 PEX5 GNPAT
10 ether lipid biosynthetic process GO:0008611 9.56 PEX7 GNPAT FAR1 AGPS
11 very long-chain fatty acid metabolic process GO:0000038 9.54 PEX5 ACAA1
12 cerebral cortex cell migration GO:0021795 9.51 PEX5 PEX13
13 peroxisome organization GO:0007031 9.5 PEX7 PEX6 PEX5 PEX19 PEX16 PEX12
14 fatty acid alpha-oxidation GO:0001561 9.49 PHYH PEX13
15 protein import into peroxisome matrix, docking GO:0016560 9.46 PEX5 PEX13
16 protein targeting to peroxisome GO:0006625 9.44 PHYH PEX7 PEX6 PEX5 PEX26 PEX19
17 peroxisome membrane biogenesis GO:0016557 9.43 PEX19 PEX16
18 protein import into peroxisome matrix, translocation GO:0016561 9.37 PEX6 PEX5

Molecular functions related to Chondrodysplasia Punctata Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.5 STS PHYH GNPAT ARSL ARSH AGPS
2 sulfuric ester hydrolase activity GO:0008484 9.43 STS ARSL ARSH
3 arylsulfatase activity GO:0004065 9.33 STS ARSL ARSH
4 peroxisome membrane targeting sequence binding GO:0033328 9.32 PEX5 PEX19
5 protein C-terminus binding GO:0008022 9.1 PEX6 PEX5 PEX26 PEX16 PEX12 PEX10

Sources for Chondrodysplasia Punctata Syndrome

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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