MCID: CHN044
MIFTS: 35

Chondrodysplasia Punctata Syndrome malady

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

Aliases & Classifications for Chondrodysplasia Punctata Syndrome

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Sources:
11Disease Ontology, 13DISEASES, 26GTR, 29ICD10, 30ICD10 via Orphanet, 38MeSH, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 67UMLS
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Aliases & Descriptions for Chondrodysplasia Punctata Syndrome:

Name: Chondrodysplasia Punctata Syndrome 51 47 67
Chondrodysplasia Punctata 11 47 26 49 38 13 67
Chondrodysplasia Punctata, X-Linked Dominant Type 67
Chondrodysplasia Punctata, Toriello Type 53
 
Chondrodysplasia Calcificans Congenita 11
Chondrodysplasia Punctata Congenita 11
Toriello-Higgins-Miller Syndrome 53
Toriello Higgins Miller Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
chondrodysplasia punctata, toriello type:
Inheritance: Autosomal recessive

Classifications:



External Ids:

OMIM51 215105
Disease Ontology11 DOID:2581
ICD1029 Q77.3
MeSH38 D002806
NCIt44 C84632
Orphanet53 ORPHA79347
ICD10 via Orphanet30 Q77.3

Summaries for Chondrodysplasia Punctata Syndrome

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Wikipedia:70 Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first... more...

MalaCards based summary: Chondrodysplasia Punctata Syndrome, also known as chondrodysplasia punctata, is related to chondrodysplasia punctata, x-linked recessive and peroxisome biogenesis disorder 9b. An important gene associated with Chondrodysplasia Punctata Syndrome is EBP (Emopamil Binding Protein (Sterol Isomerase)), and among its related pathways are Peroxisomal lipid metabolism and cholesterol biosynthesis I. Affiliated tissues include bone.

Description from OMIM:51 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 86)
idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata, x-linked recessive33.8ARSH, STS
2peroxisome biogenesis disorder 9b31.6PEX5, PEX7
3multiple sulfatase deficiency31.0ARSH, STS
4epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia30.4EBP, GNPAT
5chondrodysplasia punctata, x-linked dominant12.6
6rhizomelic chondrodysplasia punctata12.6
7chondrodysplasia punctata, rhizomelic, type 112.6
8chondrodysplasia punctata, rhizomelic, type 212.5
9chondrodysplasia punctata, rhizomelic, type 312.5
10chondrodysplasia punctata 1, x-linked12.5
11chondrodysplasia punctata 2, x-linked12.4
12chondrodysplasia punctata, tibia-metacarpal type12.3
13rhizomelic chondrodysplasia punctata type 512.3
14chondrodysplasia punctata, autosomal dominant chondrodysplasia punctata due to vitamin k deficiency, included12.3
15x-linked chondrodysplasia punctata12.3
16autosomal dominant chondrodysplasia punctata12.1
17chondrodysplasia punctata, unclassified12.1
18chondrodysplasia punctata, humero-metacarpal type12.1
19rhizomelic chondrodysplasia punctata spectrum12.0
20chondrodysplasia punctata sheffield type11.9
21chondrodysplasia punctata with steroid sulfatase deficiency11.9
22greenberg skeletal dysplasia11.3
23smith-lemli-opitz syndrome11.3
24peroxisome biogenesis disorder 6a11.1
25peroxisome biogenesis disorder 13a11.1
26peroxisome biogenesis disorder 12a11.1
27peroxisome biogenesis disorder 11a11.1
28peroxisome biogenesis disorder 4a11.1
29peroxisome biogenesis disorder 10a11.1
30peroxisome biogenesis disorder 1a11.1
31peroxisome biogenesis disorder 5a11.1
32peroxisome biogenesis disorder 8a,11.1
33peroxisome biogenesis disorder 2a11.1
34peroxisome biogenesis disorder 3a11.1
35peroxisome biogenesis disorder 7a11.1
36peroxisomal fatty acyl-coa reductase 1 disorder10.9
37cervicitis10.4
38peroxisome disorders10.3
39pancreatic ductal adenocarcinoma10.2
40lupus erythematosus10.2
41cataract10.2
42systemic lupus erythematosus10.1
43kallmann syndrome10.1
44refsum disease10.0
45adrenoleukodystrophy10.0
46osteogenesis imperfecta10.0
47connective tissue disease10.0
48epiphyseal dysplasia, multiple, 510.0
49epiphyseal dysplasia, multiple, 410.0
50epiphyseal dysplasia, multiple, with myopia and deafness10.0

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 Punctata26

Anatomical Context for Chondrodysplasia Punctata Syndrome

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MalaCards organs/tissues related to Chondrodysplasia Punctata Syndrome:

35
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
9.7ACAA1, GNPAT
2
Show member pathways
9.7EBP, SC5D
38.6ACAA1, GNPAT, PEX5, PEX7
4
Show member pathways
8.5ARSE, ARSF, ARSH, STS
5
Show member pathways
8.5ARSE, ARSF, ARSH, STS
6
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:00057789.8GNPAT, PEX5
2peroxisomal matrixGO:00057829.6ACAA1, GNPAT, PEX7
3intracellular membrane-bounded organelleGO:00432318.9ACAA1, EBP, SC5D, STS
4peroxisomeGO:00057778.9ACAA1, GNPAT, PEX5, PEX7
5endoplasmic reticulum lumenGO:00057888.7ARSE, 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:00070319.7PEX5, PEX7
4cholesterol biosynthetic process via desmosterolGO:00334899.7EBP, SC5D
5cholesterol biosynthetic process via lathosterolGO:00334909.4EBP, SC5D
6fatty acid beta-oxidationGO:00066358.8ACAA1, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet