MCID: CHN044
MIFTS: 44

Chondrodysplasia Punctata Syndrome

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

Aliases & Classifications for Chondrodysplasia Punctata Syndrome

MalaCards integrated aliases for Chondrodysplasia Punctata Syndrome:

Name: Chondrodysplasia Punctata Syndrome 57 53 73
Chondrodysplasia Punctata 12 76 53 29 55 44 15 73
Chondrodysplasia Punctata, X-Linked Dominant Type 73
Chondrodysplasia Punctata, Toriello Type 59
Chondrodysplasia Calcificans Congenita 12
Chondrodysplasia Punctata Congenita 12
Toriello Higgins Miller Syndrome 53
Toriello-Higgins-Miller Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
chondrodysplasia punctata, toriello type
Inheritance: Autosomal recessive;

Classifications:



External Ids:

OMIM 57 215105
Disease Ontology 12 DOID:2581
ICD10 33 Q77.3
MeSH 44 D002806
NCIt 50 C84632
Orphanet 59 ORPHA79347
ICD10 via Orphanet 34 Q77.3
MedGen 42 C1859132

Summaries for Chondrodysplasia Punctata Syndrome

MalaCards based summary : Chondrodysplasia Punctata Syndrome, also known as chondrodysplasia punctata, is related to chondrodysplasia punctata 2, x-linked dominant and rhizomelic chondrodysplasia punctata, type 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 Metabolism and Sphingolipid metabolism. Affiliated tissues include bone, spinal cord and skin.

Wikipedia : 76 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 97)
# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata 2, x-linked dominant 34.3 EBP GNPAT STS
2 rhizomelic chondrodysplasia punctata, type 2 33.4 GNPAT PEX5 PEX7
3 rhizomelic chondrodysplasia punctata, type 1 33.4 GNPAT PEX5 PEX7
4 rhizomelic chondrodysplasia punctata 33.4 GNPAT PEX5 PEX7
5 rhizomelic chondrodysplasia punctata, type 3 33.3 GNPAT PEX5 PEX7
6 rhizomelic chondrodysplasia punctata, type 5 33.1 GNPAT PEX5 PEX7
7 x-linked chondrodysplasia punctata 31.9 ARSE ARSH EBP PEX5 STS
8 multiple sulfatase deficiency 31.3 ARSH STS
9 ichthyosis, x-linked 30.3 ARSH STS
10 peroxisomal disease 29.7 GNPAT PEX5 PEX7
11 peroxisomal biogenesis disorders 29.4 PEX5 PEX7
12 refsum disease, classic 29.4 GNPAT PEX5 PEX7
13 chondrodysplasia punctata 1, x-linked recessive 12.7
14 chondrodysplasia punctata 1, x-linked 12.6
15 chondrodysplasia punctata 2, x-linked 12.6
16 chondrodysplasia punctata, brachytelephalangic, autosomal 12.5
17 chondrodysplasia punctata, tibia-metacarpal type 12.4
18 chondrodysplasia punctata, autosomal dominant 12.3
19 chondrodysplasia punctata, humero-metacarpal type 12.2
20 chondrodysplasia punctata sheffield type 12.0
21 chondrodysplasia punctata with steroid sulfatase deficiency 12.0
22 greenberg dysplasia 11.4
23 smith-lemli-opitz syndrome 11.4
24 peroxisome biogenesis disorder 9b 11.3
25 peroxisome biogenesis disorder 1a 11.2
26 peroxisome biogenesis disorder 2a 11.2
27 peroxisome biogenesis disorder 3a 11.2
28 peroxisome biogenesis disorder 4a 11.2
29 peroxisome biogenesis disorder 5a 11.2
30 peroxisome biogenesis disorder 6a 11.2
31 peroxisome biogenesis disorder 7a 11.2
32 peroxisome biogenesis disorder 8a 11.2
33 peroxisome biogenesis disorder 10a 11.2
34 peroxisome biogenesis disorder 11a 11.2
35 peroxisome biogenesis disorder 12a 11.2
36 peroxisome biogenesis disorder 13a 11.2
37 maxillonasal dysplasia, binder type 11.0
38 bazex syndrome 11.0
39 codas syndrome 11.0
40 peroxisomal fatty acyl-coa reductase 1 disorder 11.0
41 xp22.3 microdeletion syndrome 11.0
42 astley-kendall syndrome 10.7
43 ichthyosis 10.5
44 cervicitis 10.4
45 pancreatic ductal adenocarcinoma 10.4
46 peroxisome disorders 10.3
47 lupus erythematosus 10.3
48 zellweger syndrome 10.3
49 cataract 10.2
50 warfarin syndrome 10.2

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

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 29

Anatomical Context for Chondrodysplasia Punctata Syndrome

MalaCards organs/tissues related to Chondrodysplasia Punctata Syndrome:

41
Bone, Spinal Cord, Skin, Heart, Testes, Brain, Liver

Publications for Chondrodysplasia Punctata Syndrome

Articles related to Chondrodysplasia Punctata Syndrome:

(show top 50) (show all 285)
# Title Authors Year
1
A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata. ( 29912012 )
2018
2
Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation. ( 28742517 )
2017
3
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. ( 28730607 )
2017
4
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. ( 28614284 )
2017
5
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice. ( 29068853 )
2017
6
Chondrodysplasia Punctata: A Case Report of Fetal Warfarin Syndrome. ( 28714498 )
2017
7
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
8
Growth charts for individuals with rhizomelic chondrodysplasia punctata. ( 27616591 )
2016
9
Severe X-linked chondrodysplasia punctata in nine new female fetuses. ( 25754886 )
2015
10
Congenital heart defects common in rhizomelic chondrodysplasia punctata. ( 26408048 )
2015
11
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. ( 26220973 )
2015
12
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. ( 26587300 )
2015
13
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and SjAPgren-Larsson syndrome. ( 25432520 )
2015
14
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss. ( 26526591 )
2015
15
Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling. ( 25602717 )
2015
16
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. ( 25800479 )
2015
17
Rare Case of Rhizomelic Chondrodysplasia Punctata. ( 27299065 )
2015
18
A case of rhizomelic chondrodysplasia punctata in newborn. ( 24715923 )
2014
19
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. ( 24849933 )
2014
20
Chondrodysplasia punctata associated with maternal SjAPgren syndrome. ( 24668828 )
2014
21
Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review. ( 24712475 )
2013
22
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
23
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. ( 23942406 )
2013
24
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. ( 23462609 )
2013
25
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
26
Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. ( 23357221 )
2013
27
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. ( 24049758 )
2013
28
The neurology of rhizomelic chondrodysplasia punctata. ( 24172221 )
2013
29
Rhizomelic chondrodysplasia punctata and cardiac pathology. ( 23572185 )
2013
30
Challenges of spine surgery in patients with chondrodysplasia punctata. ( 23836071 )
2013
31
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. ( 23401300 )
2013
32
Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature. ( 23807887 )
2013
33
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype: note of concern. ( 23207426 )
2013
34
Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy. ( 22274407 )
2012
35
A rare lethal case of chondrodysplasia punctata with extensive airway involvement. ( 22413868 )
2012
36
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. ( 23716944 )
2012
37
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-HA1nermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. ( 22121851 )
2012
38
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. ( 22581171 )
2012
39
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. ( 23431749 )
2012
40
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. ( 21990100 )
2012
41
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
42
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. ( 22052861 )
2011
43
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. ( 22692643 )
2011
44
A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies. ( 21567922 )
2011
45
Chondrodysplasia punctata associated with tetralogy of Fallot in a newborn infant. ( 20681228 )
2010
46
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. ( 20014169 )
2010
47
Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome. ( 20523025 )
2010
48
Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. ( 19110299 )
2010
49
Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1). ( 20598055 )
2010
50
Warfarin-induced brachytelephalangic chondrodysplasia punctata. ( 20508633 )
2010

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
13.49 ACAA1 ARSE ARSF ARSH EBP GNPAT
2
Show member pathways
11.86 ARSE ARSF ARSH STS
3
Show member pathways
11.29 ARSE ARSF ARSH STS
4
Show member pathways
11.28 EBP SC5D
5
Show member pathways
11.09 ACAA1 GNPAT
6
Show member pathways
10.85 ARSE STS
7 10.84 ACAA1 GNPAT PEX5 PEX7

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 intracellular membrane-bounded organelle GO:0043231 9.56 ACAA1 EBP SC5D STS
2 endoplasmic reticulum lumen GO:0005788 9.46 ARSE ARSF ARSH STS
3 peroxisomal membrane GO:0005778 9.32 GNPAT PEX5
4 peroxisomal matrix GO:0005782 9.13 ACAA1 GNPAT PEX7
5 peroxisome GO:0005777 8.92 ACAA1 GNPAT PEX5 PEX7

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.81 ACAA1 EBP SC5D STS
2 post-translational protein modification GO:0043687 9.73 ARSE ARSF ARSH STS
3 steroid metabolic process GO:0008202 9.63 EBP SC5D STS
4 steroid biosynthetic process GO:0006694 9.54 EBP SC5D
5 sterol biosynthetic process GO:0016126 9.52 EBP SC5D
6 peroxisome organization GO:0007031 9.49 PEX5 PEX7
7 cellular lipid metabolic process GO:0044255 9.48 GNPAT PEX5
8 metabolic process GO:0008152 9.43 ACAA1 ARSE ARSF ARSH GNPAT STS
9 protein import into peroxisome matrix GO:0016558 9.4 PEX5 PEX7
10 ether lipid biosynthetic process GO:0008611 9.37 GNPAT PEX7
11 fatty acid beta-oxidation GO:0006635 9.33 ACAA1 PEX5 PEX7
12 cholesterol biosynthetic process via lathosterol GO:0033490 9.32 EBP SC5D
13 cholesterol biosynthetic process via desmosterol GO:0033489 9.26 EBP SC5D
14 glycosphingolipid metabolic process GO:0006687 8.92 ARSE ARSF ARSH STS

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 9.13 ARSE ARSF ARSH
2 sulfuric ester hydrolase activity GO:0008484 8.92 ARSE ARSF ARSH STS

Sources for Chondrodysplasia Punctata Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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