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 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
SNOMED-CT 68 22932004 42778005
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 x-linked chondrodysplasia punctata 1, 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, skin and spinal cord.

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 91)
# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata 2, x-linked dominant 34.4 EBP GNPAT STS
2 x-linked chondrodysplasia punctata 1 34.3 ARSE EBP
3 rhizomelic chondrodysplasia punctata, type 1 34.2 GNPAT PEX5 PEX7
4 rhizomelic chondrodysplasia punctata 34.2 GNPAT PEX5 PEX7
5 rhizomelic chondrodysplasia punctata, type 2 34.2 GNPAT PEX5 PEX7
6 rhizomelic chondrodysplasia punctata, type 3 34.0 GNPAT PEX5 PEX7
7 rhizomelic chondrodysplasia punctata, type 5 33.8 GNPAT PEX5 PEX7
8 multiple sulfatase deficiency 31.8 ARSH STS
9 ichthyosis, x-linked 30.4 ARSH STS
10 peroxisomal disease 30.3 GNPAT PEX5 PEX7
11 refsum disease, classic 30.1 GNPAT PEX5 PEX7
12 chondrodysplasia punctata 1, x-linked recessive 12.8
13 x-linked chondrodysplasia punctata 2 12.7
14 chondrodysplasia punctata, brachytelephalangic, autosomal 12.6
15 chondrodysplasia punctata, tibia-metacarpal type 12.5
16 chondrodysplasia punctata, autosomal dominant 12.5
17 chondrodysplasia punctata, humero-metacarpal type 12.3
18 chondrodysplasia punctata sheffield type 12.2
19 chondrodysplasia punctata with steroid sulfatase deficiency 12.2
20 greenberg dysplasia 11.5
21 smith-lemli-opitz syndrome 11.5
22 peroxisome biogenesis disorder 9b 11.4
23 peroxisome biogenesis disorder 1a 11.3
24 peroxisome biogenesis disorder 2a 11.3
25 peroxisome biogenesis disorder 3a 11.3
26 peroxisome biogenesis disorder 4a 11.3
27 peroxisome biogenesis disorder 5a 11.3
28 peroxisome biogenesis disorder 6a 11.3
29 peroxisome biogenesis disorder 7a 11.3
30 peroxisome biogenesis disorder 8a 11.3
31 peroxisome biogenesis disorder 10a 11.3
32 peroxisome biogenesis disorder 11a 11.3
33 peroxisome biogenesis disorder 12a 11.3
34 peroxisome biogenesis disorder 13a 11.3
35 maxillonasal dysplasia, binder type 11.2
36 bazex syndrome 11.2
37 codas syndrome 11.2
38 peroxisomal fatty acyl-coa reductase 1 disorder 11.2
39 xp22.3 microdeletion syndrome 11.2
40 astley-kendall syndrome 10.8
41 ichthyosis 10.6
42 pancreatic ductal adenocarcinoma 10.5
43 lupus erythematosus 10.4
44 zellweger syndrome 10.4
45 peroxisome disorders 10.4
46 warfarin syndrome 10.4
47 autoimmune disease 10.3
48 systemic lupus erythematosus 10.3
49 vitamin k deficiency hemorrhagic disease 10.3
50 kallmann syndrome 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

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

Publications for Chondrodysplasia Punctata Syndrome

Articles related to Chondrodysplasia Punctata Syndrome:

(show top 50) (show all 314)
# Title Authors Year
1
A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata. ( 29912012 )
2018
2
Chondrodysplasia punctata (CDPX2) in a male caused by single-gene mosaicism: A 20-year follow-up. ( 30294782 )
2018
3
Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata. ( 29572747 )
2018
4
Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review. ( 29720879 )
2018
5
Chondrodysplasia Punctata with Severe Airway Stenosis. ( 30111935 )
2018
6
Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation. ( 28742517 )
2017
7
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. ( 28730607 )
2017
8
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. ( 28614284 )
2017
9
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice. ( 29068853 )
2017
10
Chondrodysplasia Punctata: A Case Report of Fetal Warfarin Syndrome. ( 28714498 )
2017
11
Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case Report. ( 28338574 )
2017
12
Tympanoplasty for chondrodysplasia punctata: Case report. ( 27666342 )
2017
13
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
14
Chondrodysplasia punctata presenting with tracheal obstruction. ( 28109478 )
2017
15
Surgical management of cervical spine deformity in chondrodysplasia punctata. ( 28799855 )
2017
16
Severe phenotype of X-linked dominant chondrodysplasia punctata. ( 28878897 )
2017
17
Occipitocervical Fusion for Severe Atlantoaxial Dislocation in an Underdeveloped Child with Chondrodysplasia Punctata: A Case Report. ( 29244697 )
2017
18
Radiological picture of premature baby with manifestation of brachytelephalangic type chondrodysplasia punctata, myelomalacia. ( 29745127 )
2017
19
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
20
Growth charts for individuals with rhizomelic chondrodysplasia punctata. ( 27616591 )
2016
21
PRENATAL DIAGNOSIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA. ( 30226976 )
2016
22
Severe X-linked chondrodysplasia punctata in nine new female fetuses. ( 25754886 )
2015
23
Congenital heart defects common in rhizomelic chondrodysplasia punctata. ( 26408048 )
2015
24
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. ( 26220973 )
2015
25
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. ( 26587300 )
2015
26
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and SjAPgren-Larsson syndrome. ( 25432520 )
2015
27
Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss. ( 26526591 )
2015
28
Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling. ( 25602717 )
2015
29
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. ( 25800479 )
2015
30
Rare Case of Rhizomelic Chondrodysplasia Punctata. ( 27299065 )
2015
31
A case of rhizomelic chondrodysplasia punctata in newborn. ( 24715923 )
2014
32
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. ( 24849933 )
2014
33
Chondrodysplasia punctata associated with maternal Sjögren syndrome. ( 24668828 )
2014
34
Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review. ( 24712475 )
2013
35
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
36
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. ( 23942406 )
2013
37
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. ( 23462609 )
2013
38
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
39
Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. ( 23357221 )
2013
40
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. ( 24049758 )
2013
41
The neurology of rhizomelic chondrodysplasia punctata. ( 24172221 )
2013
42
Rhizomelic chondrodysplasia punctata and cardiac pathology. ( 23572185 )
2013
43
Challenges of spine surgery in patients with chondrodysplasia punctata. ( 23836071 )
2013
44
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate. ( 23401300 )
2013
45
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype: note of concern. ( 23207426 )
2013
46
Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature. ( 23807887 )
2013
47
Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy. ( 22274407 )
2012
48
A rare lethal case of chondrodysplasia punctata with extensive airway involvement. ( 22413868 )
2012
49
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. ( 23716944 )
2012
50
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

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 9.62 ACAA1 EBP SC5D STS
2 endoplasmic reticulum lumen GO:0005788 9.56 ARSE ARSF ARSH STS
3 peroxisomal membrane GO:0005778 9.33 GNPAT PEX5 PEX7
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 12)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.76 ACAA1 EBP SC5D STS
2 steroid metabolic process GO:0008202 9.58 EBP SC5D STS
3 steroid biosynthetic process GO:0006694 9.51 EBP SC5D
4 sterol biosynthetic process GO:0016126 9.49 EBP SC5D
5 cellular lipid metabolic process GO:0044255 9.48 GNPAT PEX5
6 peroxisome organization GO:0007031 9.43 PEX5 PEX7
7 protein import into peroxisome matrix GO:0016558 9.37 PEX5 PEX7
8 ether lipid biosynthetic process GO:0008611 9.32 GNPAT PEX7
9 cholesterol biosynthetic process via desmosterol GO:0033489 9.26 EBP SC5D
10 cholesterol biosynthetic process via lathosterol GO:0033490 9.16 EBP SC5D
11 fatty acid beta-oxidation GO:0006635 9.13 ACAA1 PEX5 PEX7
12 protein targeting to peroxisome GO:0006625 8.92 ACAA1 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 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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