MCID: CHN044
MIFTS: 44

Chondrodysplasia Punctata Syndrome

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 58 54 74
Chondrodysplasia Punctata 12 77 54 30 56 45 15 74
Chondrodysplasia Punctata, X-Linked Dominant Type 74
Chondrodysplasia Punctata, Toriello Type 60
Chondrodysplasia Calcificans Congenita 12
Chondrodysplasia Punctata Congenita 12
Toriello Higgins Miller Syndrome 54
Toriello-Higgins-Miller Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
chondrodysplasia punctata, toriello type
Inheritance: Autosomal recessive;

Classifications:



External Ids:

Disease Ontology 12 DOID:2581
OMIM 58 215105
MeSH 45 D002806
NCIt 51 C84632
SNOMED-CT 69 22932004 42778005
ICD10 34 Q77.3
ICD10 via Orphanet 35 Q77.3
Orphanet 60 ORPHA79347
MedGen 43 C1859132

Summaries for Chondrodysplasia Punctata Syndrome

MalaCards based summary : Chondrodysplasia Punctata Syndrome, also known as chondrodysplasia punctata, is related to x-linked chondrodysplasia punctata 1 and chondrodysplasia punctata 2, x-linked dominant, 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 Metabolism and Sphingolipid metabolism. Affiliated tissues include bone, heart and t cells, and related phenotype is Decreased shRNA abundance.

Wikipedia : 77 Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first... more...

Description 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 99)
# Related Disease Score Top Affiliating Genes
1 x-linked chondrodysplasia punctata 1 34.5 ARSE EBP
2 chondrodysplasia punctata 2, x-linked dominant 34.5 EBP GNPAT STS
3 rhizomelic chondrodysplasia punctata, type 1 33.5 AGPS GNPAT PEX5 PEX7
4 rhizomelic chondrodysplasia punctata, type 2 33.5 AGPS GNPAT PEX5 PEX7
5 rhizomelic chondrodysplasia punctata 33.5 AGPS GNPAT PEX5 PEX7
6 rhizomelic chondrodysplasia punctata, type 3 33.5 AGPS GNPAT PEX5 PEX7
7 rhizomelic chondrodysplasia punctata, type 5 33.3 AGPS GNPAT PEX5 PEX7
8 multiple sulfatase deficiency 31.8 ARSH STS
9 ichthyosis, x-linked 30.4 ARSH STS
10 refsum disease, classic 30.1 GNPAT PEX5 PEX7
11 zellweger syndrome 30.1 AGPS GNPAT PEX5
12 peroxisomal disease 29.6 AGPS GNPAT PEX5 PEX7
13 chondrodysplasia punctata 1, x-linked recessive 12.9
14 x-linked chondrodysplasia punctata 2 12.7
15 chondrodysplasia punctata, autosomal dominant 12.7
16 chondrodysplasia punctata, brachytelephalangic, autosomal 12.7
17 chondrodysplasia punctata, tibia-metacarpal type 12.6
18 chondrodysplasia punctata, humero-metacarpal type 12.4
19 chondrodysplasia punctata sheffield type 12.2
20 chondrodysplasia punctata with steroid sulfatase deficiency 12.2
21 peroxisome biogenesis disorder 9b 11.8
22 greenberg dysplasia 11.6
23 smith-lemli-opitz syndrome 11.6
24 peroxisome biogenesis disorder 1a 11.4
25 peroxisome biogenesis disorder 2a 11.4
26 peroxisome biogenesis disorder 3a 11.4
27 peroxisome biogenesis disorder 4a 11.4
28 peroxisome biogenesis disorder 5a 11.4
29 peroxisome biogenesis disorder 6a 11.4
30 peroxisome biogenesis disorder 7a 11.4
31 peroxisome biogenesis disorder 8a 11.4
32 peroxisome biogenesis disorder 10a 11.4
33 peroxisome biogenesis disorder 11a 11.4
34 peroxisome biogenesis disorder 12a 11.4
35 peroxisome biogenesis disorder 13a 11.4
36 maxillonasal dysplasia, binder type 11.2
37 bazex syndrome 11.2
38 codas syndrome 11.2
39 peroxisomal fatty acyl-coa reductase 1 disorder 11.2
40 xp22.3 microdeletion syndrome 11.2
41 astley-kendall syndrome 10.8
42 ichthyosis 10.6
43 pancreatic ductal adenocarcinoma 10.6
44 lupus erythematosus 10.5
45 cataract 10.4
46 peroxisome disorders 10.4
47 warfarin syndrome 10.4
48 autoimmune disease 10.3
49 systemic lupus erythematosus 10.3
50 vitamin k deficiency bleeding 10.3

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

UMLS symptoms related to Chondrodysplasia Punctata Syndrome:


edema

GenomeRNAi Phenotypes related to Chondrodysplasia Punctata Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.8 AGPS ARSH EBP

Drugs & Therapeutics for Chondrodysplasia Punctata Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186

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 30

Anatomical Context for Chondrodysplasia Punctata Syndrome

MalaCards organs/tissues related to Chondrodysplasia Punctata Syndrome:

42
Bone, Heart, T Cells, Skin, Spinal Cord, Brain, Colon

Publications for Chondrodysplasia Punctata Syndrome

Articles related to Chondrodysplasia Punctata Syndrome:

(show top 50) (show all 315)
# Title Authors Year
1
Chondrodysplasia punctata (CDPX2) in a male caused by single-gene mosaicism: A 20-year follow-up. ( 30294782 )
2019
2
X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report. ( 30608402 )
2019
3
Chondrodysplasia Punctata: A Clue to the Zellweger Spectrum Disorders. ( 30898411 )
2019
4
A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata. ( 29912012 )
2018
5
Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata. ( 29572747 )
2018
6
Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review. ( 29720879 )
2018
7
Chondrodysplasia Punctata with Severe Airway Stenosis. ( 30111935 )
2018
8
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. ( 28730607 )
2017
9
Growth charts for individuals with rhizomelic chondrodysplasia punctata. ( 27616591 )
2017
10
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. ( 28614284 )
2017
11
Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation. ( 28742517 )
2017
12
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice. ( 29068853 )
2017
13
Chondrodysplasia Punctata: A Case Report of Fetal Warfarin Syndrome. ( 28714498 )
2017
14
Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case Report. ( 28338574 )
2017
15
Tympanoplasty for chondrodysplasia punctata: Case report. ( 27666342 )
2017
16
Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin. ( 27943351 )
2017
17
Chondrodysplasia punctata presenting with tracheal obstruction. ( 28109478 )
2017
18
Surgical management of cervical spine deformity in chondrodysplasia punctata. ( 28799855 )
2017
19
Severe phenotype of X-linked dominant chondrodysplasia punctata. ( 28878897 )
2017
20
Occipitocervical Fusion for Severe Atlantoaxial Dislocation in an Underdeveloped Child with Chondrodysplasia Punctata: A Case Report. ( 29244697 )
2017
21
Radiological picture of premature baby with manifestation of brachytelephalangic type chondrodysplasia punctata, myelomalacia. ( 29745127 )
2017
22
Effect of Intrathecal Baclofen on Delayed-Onset Paroxysmal Dystonia due to Compression Injury Resulting From Congenital and Progressive Spinal Bone Deformities in Chondrodysplasia Punctata. ( 26777981 )
2016
23
Congenital heart defects common in rhizomelic chondrodysplasia punctata. ( 26408048 )
2016
24
PRENATAL DIAGNOSIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA. ( 30226976 )
2016
25
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome. ( 25432520 )
2015
26
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. ( 25800479 )
2015
27
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. ( 26220973 )
2015
28
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. ( 26587300 )
2015
29
Rare Case of Rhizomelic Chondrodysplasia Punctata. ( 27299065 )
2015
30
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss. ( 26526591 )
2015
31
Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling. ( 25602717 )
2015
32
Severe X-linked chondrodysplasia punctata in nine new female fetuses. ( 25754886 )
2015
33
A case of rhizomelic chondrodysplasia punctata in newborn. ( 24715923 )
2014
34
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. ( 24849933 )
2014
35
Chondrodysplasia punctata associated with maternal Sjögren syndrome. ( 24668828 )
2014
36
Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. ( 23357221 )
2013
37
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. ( 23462609 )
2013
38
Rhizomelic chondrodysplasia punctata and cardiac pathology. ( 23572185 )
2013
39
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. ( 23942406 )
2013
40
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. ( 24049758 )
2013
41
The neurology of rhizomelic chondrodysplasia punctata. ( 24172221 )
2013
42
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype: note of concern. ( 23207426 )
2013
43
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. ( 23401300 )
2013
44
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies. ( 23470839 )
2013
45
Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene. ( 23462608 )
2013
46
Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature. ( 23807887 )
2013
47
Challenges of spine surgery in patients with chondrodysplasia punctata. ( 23836071 )
2013
48
Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review. ( 24712475 )
2013
49
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. ( 21990100 )
2012
50
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012

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

Pathways related to Chondrodysplasia Punctata Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 ACAA1 AGPS ARSE ARSH EBP GNPAT
2
Show member pathways
11.95 ARSE ARSH STS
3
Show member pathways
11.37 ARSE ARSH STS
4
Show member pathways
11.28 AGPS GNPAT
5 10.94 ACAA1 AGPS GNPAT PEX5 PEX7
6
Show member pathways
10.86 ACAA1 AGPS GNPAT
7
Show member pathways
10.85 ARSE STS
8
Show member pathways
10.62 AGPS GNPAT

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 endoplasmic reticulum lumen GO:0005788 9.5 ARSE ARSH STS
2 peroxisomal membrane GO:0005778 9.46 AGPS GNPAT PEX5 PEX7
3 intracellular membrane-bounded organelle GO:0043231 9.43 ACAA1 SHOX STS
4 peroxisomal matrix GO:0005782 9.26 ACAA1 AGPS GNPAT PEX7
5 peroxisome GO:0005777 9.02 ACAA1 AGPS GNPAT PEX5 PEX7

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.71 ACAA1 AGPS EBP STS
2 skeletal system development GO:0001501 9.5 ARSE EBP SHOX
3 cellular lipid metabolic process GO:0044255 9.43 GNPAT PEX5
4 peroxisome organization GO:0007031 9.37 PEX5 PEX7
5 fatty acid beta-oxidation GO:0006635 9.33 ACAA1 PEX5 PEX7
6 protein import into peroxisome matrix GO:0016558 9.26 PEX5 PEX7
7 ether lipid biosynthetic process GO:0008611 9.13 AGPS GNPAT PEX7
8 protein targeting to peroxisome GO:0006625 9.02 ACAA1 AGPS GNPAT PEX5 PEX7

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

# Name GO ID Score Top Affiliating Genes
1 arylsulfatase activity GO:0004065 8.96 ARSE ARSH
2 sulfuric ester hydrolase activity GO:0008484 8.8 ARSE ARSH STS

Sources for Chondrodysplasia Punctata Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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