MCID: CHN014
MIFTS: 41

Chondrodysplasia Punctata malady

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

Aliases & Classifications for Chondrodysplasia Punctata

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Aliases & Descriptions for Chondrodysplasia Punctata:

Name: Chondrodysplasia Punctata 10 45 47 12 36 65
Chondrodysplasia Punctata Syndrome 45 24 65
Chondrodysplasia Punctata, X-Linked Dominant Type 65
 
Chondrodysplasia Calcificans Congenita 10
Chondrodysplasia Punctata Congenita 10
Toriello Higgins Miller Syndrome 45

Classifications:



External Ids:

Disease Ontology10 DOID:2581
ICD1027 Q77.3
MeSH36 D002806
NCIt42 C84632
UMLS65 C0008445, C0282102, C1859132

Summaries for Chondrodysplasia Punctata

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Wikipedia:68 Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first... more...

MalaCards based summary: Chondrodysplasia Punctata, also known as chondrodysplasia punctata syndrome, is related to autosomal dominant chondrodysplasia punctata and peroxisome biogenesis disorder 9b. An important gene associated with Chondrodysplasia Punctata is ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)), and among its related pathways are Estrogen Metabolism Pathway and Sphingolipid metabolism. Affiliated tissues include breast, bone and prostate.

Related Diseases for Chondrodysplasia Punctata

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Diseases in the Chondrodysplasia Punctata family:

Autosomal Dominant Chondrodysplasia Punctata

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

(show top 50)    (show all 253)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal dominant chondrodysplasia punctata32.7ARSE, ARSH, EBP, PEX5, STS
2peroxisome biogenesis disorder 9b31.3PEX5, PEX7
3multiple sulfatase deficiency29.9ARSH, STS
4chondrodysplasia punctata, rhizomelic, type 113.0
5chondrodysplasia punctata, x-linked recessive12.9
6chondrodysplasia punctata, rhizomelic, type 212.9
7chondrodysplasia punctata, rhizomelic, type 312.9
8rhizomelic chondrodysplasia punctata12.9
9chondrodysplasia punctata 2, x-linked12.9
10chondrodysplasia punctata, x-linked dominant12.8
11chondrodysplasia punctata 1, x-linked12.8
12x-linked chondrodysplasia punctata12.7
13chondrodysplasia punctata, unclassified12.6
14chondrodysplasia punctata, tibial-metacarpal type12.6
15chondrodysplasia punctata, toriello type12.6
16chondrodysplasia punctata, tibia metacarpal type12.5
17rhizomelic chondrodysplasia punctata spectrum12.5
18chondrodysplasia punctata sheffield type12.4
19chondrodysplasia punctata with steroid sulfatase deficiency12.4
20chondrodysplasia punctata, humero-metacarpal type12.4
21greenberg skeletal dysplasia11.1
22pancreatic ductal adenocarcinoma10.8
23leukemia10.6
24peroxisome biogenesis disorder 6a10.6
25peroxisome biogenesis disorder 13a10.6
26peroxisome biogenesis disorder 12a10.6
27peroxisome biogenesis disorder 11a10.6
28peroxisome biogenesis disorder 4a10.6
29peroxisome biogenesis disorder 10a10.6
30peroxisome biogenesis disorder 1a10.6
31peroxisome biogenesis disorder 5a10.6
32peroxisome biogenesis disorder 8a,10.6
33peroxisome biogenesis disorder 2a10.6
34peroxisome biogenesis disorder 3a10.6
35peroxisome biogenesis disorder 7a10.6
36epiphyseal dysplasia, multiple, 510.5
37epiphyseal dysplasia, multiple, 410.5
38epiphyseal dysplasia, multiple, 110.5
39astley-kendall syndrome10.5
40multiple epiphyseal dysplasia, al-gazali type10.5
41multiple epiphyseal dysplasia, with miniepiphyses10.5
42multiple epiphyseal dysplasia, with severe proximal femoral dysplasia10.5
43multiple epiphyseal dysplasia, beighton type10.5
44multiple epiphyseal dysplasia due to collagen 9 anomaly10.5
45dappled diaphyseal dysplasia10.5
46breast cancer10.5
47hepatitis10.5
48neuronitis10.5
49peroxisomal fatty acyl-coa reductase 1 disorder10.5
50smith-lemli-opitz syndrome10.5

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



Diseases related to chondrodysplasia punctata

Symptoms for Chondrodysplasia Punctata

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Drugs & Therapeutics for Chondrodysplasia Punctata

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)RecruitingNCT01668186

Search NIH Clinical Center for Chondrodysplasia Punctata


Cochrane evidence based reviews: chondrodysplasia punctata

Genetic Tests for Chondrodysplasia Punctata

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Anatomical Context for Chondrodysplasia Punctata

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MalaCards organs/tissues related to Chondrodysplasia Punctata:

33
Breast, Bone, Prostate, Colon, Endothelial, Lung, Testes

Animal Models for Chondrodysplasia Punctata or affiliated genes

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Publications for Chondrodysplasia Punctata

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Articles related to Chondrodysplasia Punctata:

(show top 50)    (show all 272)
idTitleAuthorsYear
1
Clinical Characteristics and Factors Influencing the Occurrence of Acute Eosinophilic Pneumonia in Korean Military Personnel. (26839479)
2016
2
Krukenberg tumor presenting with amenorrhea as the sole initial symptom: Case report and review of the literature. (26881586)
2015
3
Current and future treatment options for polycythemia vera. (25832853)
2015
4
Syringomyelia secondary to cervical spondylosis: Case report and review of literature. (25540552)
2014
5
Anti-MDA5 antibodies in a large Mediterranean population of adults with dermatomyositis. (24741583)
2014
6
Characteristics of sequential targeting of brain glioma for transferrin-modified cisplatin liposome. (23347891)
2013
7
Mass spectrometry quantification revealed accumulation of C-terminal fragment of apolipoprotein E in the Alzheimer's frontal cortex. (23593485)
2013
8
A single-arm, phase II study of the anti-Blys monoclonal antibody belimumab in symptomatic Waldenstrom macroglobulinemia. (23773449)
2013
9
Nodular Basal cell carcinoma successfully treated with intralesional 5-aminolevulinic Acid injection-photodynamic therapy. (23197924)
2012
10
Slug and Sox9 cooperatively determine the mammary stem cell state. (22385965)
2012
11
Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population. (23118445)
2012
12
Epidermal growth factor receptor reactivation induced by E-prostanoid-3 receptor- and tumor necrosis factor-alpha-converting enzyme-dependent feedback exaggerates interleukin-8 production in airway cancer (NCI-H292) cells. (21925169)
2011
13
Illness perceptions in patients with gout and the relationship with progression of musculoskeletal disability. (22034122)
2011
14
Efficacy of anti-TNF therapies in refractory severe microscopic colitis. (22115383)
2011
15
Pulmonary arterial systolic pressure and susceptibility to high altitude pulmonary edema. (21964625)
2011
16
Cargo recognition mechanism of myosin X revealed by the structure of its tail MyTH4-FERM tandem in complex with the DCC P3 domain. (21321230)
2011
17
Voltage-dependent anion channel 1-based peptides interact with Bcl-2 to prevent antiapoptotic activity. (20037155)
2010
18
Genetic variation in the progesterone receptor gene and risk of endometrial cancer: a haplotype-based approach. (20547493)
2010
19
Changes in gingival crevicular fluid inflammatory mediator levels during the induction and resolution of experimental gingivitis in humans. (20447255)
2010
20
Mycobacterium genavense duodenitis following allogeneic peripheral blood stem cell transplantation. (19656345)
2009
21
Nicotine enhances migration and invasion of human esophageal squamous carcinoma cells which is inhibited by nimesulide. (19469000)
2009
22
MDM2SNP309 does not associate with elevated MDM2 protein expression or breast cancer risk. (18547962)
2008
23
Comparative evaluation of plasma levels and diagnostic values of macrophage-colony stimulating factor in patients with breast cancer and benign tumors. (18846980)
2008
24
Comparison of reversal effects of 5-bromotetrandrine and tetrandrine on P-glycoprotein-dependent Resistance to adriamycin in human lukemia cell line K562/A02]. (18479598)
2008
25
Capturing proteins that bind polyunsaturated fatty acids: demonstration using arachidonic acid and eicosanoids. (18084788)
2008
26
Platelet-activating factor induces ovine fetal pulmonary venous smooth muscle cell proliferation: role of epidermal growth factor receptor transactivation. (17322418)
2007
27
Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia I ultrastructure. (17538848)
2007
28
Activation of pannexin 1 channels by ATP through P2Y receptors and by cytoplasmic calcium. (16364313)
2006
29
Ictal hemodynamic changes in late-onset rasmussen encephalitis. (16437569)
2006
30
G-protein-coupled OX1 orexin/hcrtr-1 hypocretin receptors induce caspase-dependent and -independent cell death through p38 mitogen-/stress-activated protein kinase. (16282319)
2006
31
Suppression of urokinase expression and invasion by a soybean Kunitz trypsin inhibitor are mediated through inhibition of Src-dependent signaling pathways. (16002410)
2005
32
Mechanism of inactivation of inducible nitric oxide synthase by amidines. Irreversible enzyme inactivation without inactivator modification. (15656623)
2005
33
The influence of uropathogenic Escherichia coli and proinflammatory cytokines on the inducible nitric oxide synthase response in human kidney epithelial cells. (15711365)
2005
34
Role of defective ERK phosphorylation in the impaired GM-CSF-induced oxidative response of neutrophils in elderly humans. (15336911)
2004
35
c-Jun NH2-terminal kinase pathway is involved in constitutive matrix metalloproteinase-1 expression in a hepatocellular carcinoma-derived cell line. (15027120)
2004
36
Characterization of the mouse gene for the U-box-type ubiquitin ligase UFD2a. (12504083)
2003
37
Apoptosis, PCNA and p53 in hepatocellular carcinoma. (12143201)
2002
38
Sensitivity of electrospray ionization mass spectrometry detection of codon 249 mutations in the p53 gene compared with RFLP. (12376521)
2002
39
Impaired HDL response to fat in men with coronary artery disease. (10781647)
2000
40
Complex formation with focal adhesion kinase: A mechanism to regulate activity and subcellular localization of Src kinases. (10512882)
1999
41
Hematometra and sudden death after status epilepticus in the adolescent female with Fryns syndrome. (10546108)
1999
42
Depressive symptoms associated with gonadotropin-releasing hormone agonists. (9706454)
1998
43
Bronchiolitis obliterans organizing pneumonia in Korea. (9767618)
1998
44
Third-line hormonal treatment with exemestane in postmenopausal patients with advanced breast cancer progressing on aminoglutethimide: a phase II multicentre multinational study. Exemestane Study Group. (9470830)
1997
45
Shaken baby syndrome: a nursing perspective. (7715967)
1995
46
Palmoplantar keratoderma with cutaneous horns. (1534079)
1992
47
Primary cutaneous mucoepidermoid carcinoma: report of a case. (2022766)
1991
48
Apparent G syndrome presenting as neck and upper limb dystonia and severe gastroesophageal reflux. (3425612)
1987
49
Glycogenosis type Ib complicated by severe granulocytopenia resembling inherited neutropenia. (6944203)
1981
50

Variations for Chondrodysplasia Punctata

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Expression for genes affiliated with Chondrodysplasia Punctata

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Search GEO for disease gene expression data for Chondrodysplasia Punctata.

Pathways for genes affiliated with Chondrodysplasia Punctata

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GO Terms for genes affiliated with Chondrodysplasia Punctata

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

idNameGO IDScoreTop Affiliating Genes
1skeletal system developmentGO:000150110.1ARSE, EBP
2neuron migrationGO:00017649.5PEX5, PEX7
3cellular lipid metabolic processGO:00442559.4ACAA1, AGPS, GNPAT
4post-translational protein modificationGO:00436879.1ARSE, ARSH, STS

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

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:00080229.1PEX26, PEX5

Sources for Chondrodysplasia Punctata

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet