MCID: CHN044
MIFTS: 34

Chondrodysplasia Punctata Syndrome malady

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

Aliases & Classifications for Chondrodysplasia Punctata Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 66UMLS, 11Disease Ontology, 13DISEASES, 25GTR, 48Novoseek, 37MeSH, 52Orphanet, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Chondrodysplasia Punctata Syndrome:

Name: Chondrodysplasia Punctata Syndrome 50 46 66
Chondrodysplasia Punctata 11 46 13 25 48 37 66
Chondrodysplasia Punctata, X-Linked Dominant Type 66
Chondrodysplasia Punctata, Toriello Type 52
 
Chondrodysplasia Calcificans Congenita 11
Chondrodysplasia Punctata Congenita 11
Toriello-Higgins-Miller Syndrome 52
Toriello Higgins Miller Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
chondrodysplasia punctata, toriello type:
Inheritance: Autosomal recessive

Classifications:



External Ids:

OMIM50 215105
Disease Ontology11 DOID:2581
ICD1028 Q77.3
MeSH37 D002806
NCIt43 C84632
Orphanet52 ORPHA79347
ICD10 via Orphanet29 Q77.3

Summaries for Chondrodysplasia Punctata Syndrome

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MalaCards based summary: Chondrodysplasia Punctata Syndrome, also known as chondrodysplasia punctata, is related to chondrodysplasia punctata, x-linked recessive and epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia. An important gene associated with Chondrodysplasia Punctata Syndrome is EBP (Emopamil Binding Protein (Sterol Isomerase)), and among its related pathways are Estrogen Metabolism Pathway and Peroxisomal lipid metabolism. Affiliated tissues include bone.

Description from OMIM:50 215105

Related Diseases for Chondrodysplasia Punctata Syndrome

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Diseases in the Chondrodysplasia Punctata Syndrome family:

Autosomal Dominant Chondrodysplasia Punctata

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata, x-linked recessive33.9ARSH, STS
2epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia30.7EBP, GNPAT
3peroxisome biogenesis disorder 9b30.3PEX5, PEX7
4multiple sulfatase deficiency29.7ARSH, STS
5rhizomelic chondrodysplasia punctata12.6
6chondrodysplasia punctata, x-linked dominant12.6
7chondrodysplasia punctata, rhizomelic, type 112.6
8chondrodysplasia punctata, rhizomelic, type 212.6
9chondrodysplasia punctata, rhizomelic, type 312.5
10chondrodysplasia punctata 1, x-linked12.5
11chondrodysplasia punctata 2, x-linked12.5
12chondrodysplasia punctata, tibia-metacarpal type12.4
13x-linked chondrodysplasia punctata12.4
14chondrodysplasia punctata, autosomal dominant chondrodysplasia punctata due to vitamin k deficiency, included12.4
15autosomal dominant chondrodysplasia punctata12.2
16chondrodysplasia punctata, unclassified12.2
17chondrodysplasia punctata, humero-metacarpal type12.2
18rhizomelic chondrodysplasia punctata spectrum12.1
19chondrodysplasia punctata sheffield type12.0
20chondrodysplasia punctata with steroid sulfatase deficiency12.0
21greenberg skeletal dysplasia10.7
22smith-lemli-opitz syndrome10.6
23cervicitis10.5
24peroxisome disorders10.4
25pancreatic ductal adenocarcinoma10.4
26lupus erythematosus10.3
27zellweger syndrome10.3
28cataract10.3
29systemic lupus erythematosus10.2
30kallmann syndrome10.2
31peroxisome biogenesis disorder 6a10.2
32peroxisome biogenesis disorder 13a10.2
33peroxisome biogenesis disorder 12a10.2
34peroxisome biogenesis disorder 11a10.2
35peroxisome biogenesis disorder 4a10.2
36peroxisome biogenesis disorder 10a10.2
37peroxisome biogenesis disorder 1a10.2
38peroxisome biogenesis disorder 5a10.2
39peroxisome biogenesis disorder 8a,10.2
40peroxisome biogenesis disorder 2a10.2
41peroxisome biogenesis disorder 3a10.2
42peroxisome biogenesis disorder 7a10.2
43refsum disease10.1
44adrenoleukodystrophy10.1
45osteogenesis imperfecta10.1
46mixed connective tissue disease10.1
47connective tissue disease10.1
48epiphyseal dysplasia, multiple, 510.1
49epiphyseal dysplasia, multiple, 410.1
50epiphyseal dysplasia, multiple, with myopia and deafness10.1

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



Diseases related to chondrodysplasia punctata syndrome

Symptoms for Chondrodysplasia Punctata Syndrome

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Clinical features from OMIM:

215105

Drugs & Therapeutics for Chondrodysplasia Punctata Syndrome

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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 Syndrome


Cochrane evidence based reviews: chondrodysplasia punctata

Genetic Tests for Chondrodysplasia Punctata Syndrome

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Genetic tests related to Chondrodysplasia Punctata Syndrome:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata25

Anatomical Context for Chondrodysplasia Punctata Syndrome

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MalaCards organs/tissues related to Chondrodysplasia Punctata Syndrome:

34
Bone

Animal Models for Chondrodysplasia Punctata Syndrome or affiliated genes

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Publications for Chondrodysplasia Punctata Syndrome

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Articles related to Chondrodysplasia Punctata Syndrome:

idTitleAuthorsYear
1
Corneal changes in chondrodysplasia punctata syndrome. (8297075)
1993
2
Provisionally unique autosomal recessive chondrodysplasia punctata syndrome. (8267015)
1993
3
The chondrodysplasia punctata syndrome--the rhizomelic type. (262483)
1979

Variations for Chondrodysplasia Punctata Syndrome

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Expression for genes affiliated with Chondrodysplasia Punctata Syndrome

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

Pathways for genes affiliated with Chondrodysplasia Punctata Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8ARSE, STS
2
Show member pathways
9.7ACAA1, GNPAT
3
Show member pathways
9.7EBP, SC5D
48.6ACAA1, GNPAT, PEX5, PEX7
5
Show member pathways
8.5ARSE, ARSF, ARSH, STS
6
Show member pathways
8.5ARSE, ARSF, ARSH, STS
7
Show member pathways
6.9ACAA1, ARSE, ARSF, ARSH, EBP, GNPAT

GO Terms for genes affiliated with Chondrodysplasia Punctata Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:00057789.9GNPAT, PEX5
2peroxisomal matrixGO:00057829.6ACAA1, GNPAT, PEX7
3intracellular membrane-bounded organelleGO:00432318.9ACAA1, EBP, SC5D, STS
4peroxisomeGO:00057778.8ACAA1, GNPAT, PEX5, PEX7
5endoplasmic reticulum lumenGO:00057888.6ARSE, ARSF, ARSH, STS

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1ether lipid biosynthetic processGO:000861110.1GNPAT, PEX7
2protein import into peroxisome matrixGO:00165589.8PEX5, PEX7
3peroxisome organizationGO:00070319.8PEX5, PEX7
4cholesterol biosynthetic process via lathosterolGO:00334909.7EBP, SC5D
5cholesterol biosynthetic process via desmosterolGO:00334899.4EBP, SC5D
6fatty acid beta-oxidationGO:00066359.0ACAA1, PEX5, PEX7
7post-translational protein modificationGO:00436878.8ARSE, ARSF, ARSH, STS
8glycosphingolipid metabolic processGO:00066878.6ARSE, ARSF, ARSH, STS

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

idNameGO IDScoreTop Affiliating Genes
1arylsulfatase activityGO:00040658.9ARSE, ARSF, ARSH

Sources for Chondrodysplasia Punctata Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet