MCID: CHN014
MIFTS: 39

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 lung, 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 94)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal dominant chondrodysplasia punctata31.5ARSE, ARSH, EBP, PEX5, STS
2peroxisome biogenesis disorder 9b30.8PEX5, PEX7
3peroxisome disorders30.4PEX5, PEX7
4multiple sulfatase deficiency28.8ARSH, STS
5rhizomelic chondrodysplasia punctata12.6
6chondrodysplasia punctata 2, x-linked12.6
7chondrodysplasia punctata, rhizomelic, type 112.6
8chondrodysplasia punctata, x-linked recessive12.5
9chondrodysplasia punctata, rhizomelic, type 212.5
10chondrodysplasia punctata, rhizomelic, type 312.5
11chondrodysplasia punctata, x-linked dominant12.5
12chondrodysplasia punctata 1, x-linked12.5
13x-linked chondrodysplasia punctata12.4
14chondrodysplasia punctata, tibial-metacarpal type12.3
15chondrodysplasia punctata, tibia metacarpal type12.2
16chondrodysplasia punctata, unclassified12.2
17chondrodysplasia punctata, toriello type12.2
18chondrodysplasia punctata, humero-metacarpal type12.2
19rhizomelic chondrodysplasia punctata spectrum12.1
20chondrodysplasia punctata sheffield type12.0
21chondrodysplasia punctata with steroid sulfatase deficiency12.0
22greenberg skeletal dysplasia10.7
23smith-lemli-opitz syndrome10.6
24cervicitis10.5
25hypertrophic scars10.4EBP, GNPAT
26pancreatic ductal adenocarcinoma10.4
27lupus erythematosus10.3
28zellweger syndrome10.3
29cataract10.3
30systemic lupus erythematosus10.2
31kallmann syndrome10.2
32peroxisome biogenesis disorder 6a10.2
33peroxisome biogenesis disorder 13a10.2
34peroxisome biogenesis disorder 12a10.2
35peroxisome biogenesis disorder 11a10.2
36peroxisome biogenesis disorder 4a10.2
37peroxisome biogenesis disorder 10a10.2
38peroxisome biogenesis disorder 1a10.2
39peroxisome biogenesis disorder 5a10.2
40peroxisome biogenesis disorder 8a,10.2
41peroxisome biogenesis disorder 2a10.2
42peroxisome biogenesis disorder 3a10.2
43peroxisome biogenesis disorder 7a10.2
44refsum disease10.1
45adrenoleukodystrophy10.1
46osteogenesis imperfecta10.1
47mixed connective tissue disease10.1
48connective tissue disease10.1
49maxillonasal dysplasia10.1
50growth hormone deficiency, isolated, type ia10.1PEX5, PEX7

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
Lung, Bone, Prostate, Brain, Liver, Endothelial, T cells

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 275)
idTitleAuthorsYear
1
Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling. (25602717)
2015
2
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. (24049758)
2013
3
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. (23942406)
2013
4
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. (22581171)
2012
5
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)
2011
6
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. (22692643)
2011
7
Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata. (19110299)
2010
8
Chondrodysplasia punctata associated with tetralogy of Fallot in a newborn infant. (20681228)
2010
9
Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency. (20177377)
2010
10
Chondrodysplasia punctata: a clinical diagnostic and radiological review. (18978650)
2008
11
Cervical spinal cord compression in chondrodysplasia punctata. Case illustration. (16572643)
2006
12
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. (15824492)
2005
13
Chondrodysplasia punctata in siblings and maternal lupus erythematosus. (15521983)
2004
14
Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. (15246527)
2004
15
Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-HA1nermann-Happle syndrome). (14726822)
2004
16
Vitreoretinal abnormalities in the Conradi-Hunermann form of chondrodysplasia punctata. (15205255)
2004
17
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2). (14632217)
2003
18
Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-HA1nermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. (14684697)
2003
19
Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system. (12949976)
2003
20
Second-trimester sonographic diagnosis of nonrhizomelic chondrodysplasia punctata. (11883546)
2002
21
Images in clinical medicine. Chondrodysplasia punctata. (12110739)
2002
22
Spinal deformity in chondrodysplasia punctata. (12634559)
2002
23
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)
2002
24
Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis. (11169563)
2001
25
What syndrome is this? X-linked dominant chondrodysplasia punctata (Happle). (11737694)
2001
26
A case of chondrodysplasia punctata with features of osteogenesis imperfecta type II. (11400945)
2001
27
Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus. (11026586)
2000
28
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. (10442551)
1999
29
X-linked dominant chondrodysplasia punctata: a peroxisomal disorder? (9677071)
1998
30
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (9536089)
1998
31
Refinement of the locus for X-linked recessive chondrodysplasia punctata. (7759082)
1995
32
High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). (7601447)
1995
33
Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. (7991519)
1994
34
Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti. (8178833)
1994
35
Brachytelephalangic chondrodysplasia punctata in an extremely premature infant. (7802043)
1994
36
Chondrodysplasia Punctata 2, X-Linked (21634086)
1993
37
Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata. (8353949)
1993
38
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. (1468458)
1992
39
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. (1557308)
1992
40
Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata. (1409157)
1992
41
Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity? (1776629)
1991
42
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data. (1750197)
1991
43
The syndrome page. X-linked dominant chondrodysplasia punctata (Conradi-HA1nermann syndrome). (2748475)
1989
44
Radiological case of the month. Dominant X-linked chondrodysplasia punctata. (3177333)
1988
45
Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type. (3438058)
1987
46
Dominant chondrodysplasia punctata with neurologic symptoms. (6683813)
1983
47
Chondrodysplasia punctata after warfarin in early pregnancy. Case report and summary of the literature. (7377833)
1980
48
Skin markers of X-linked dominant chondrodysplasia punctata. (464620)
1979
49
Sex-linked type of chondrodysplasia punctata due to a new mutation. (546029)
1979
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