MCID: CHN044
MIFTS: 15

Chondrodysplasia Punctata Syndrome malady

Summaries for Chondrodysplasia Punctata Syndrome

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64Wikipedia, 33MalaCards
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Wikipedia:64 Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first... more...

MalaCards: Chondrodysplasia Punctata Syndrome, also known as chondrodysplasia punctata, is related to chondrodysplasia and wagr syndrome.

Aliases & Classifications for Chondrodysplasia Punctata Syndrome

Sources:
43NIH Rare Diseases, 22GTR, 61UMLS, 45Novoseek, 25ICD10
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Classifications:



Aliases & Descriptions:

chondrodysplasia punctata syndrome 43 22 61
chondrodysplasia punctata 45 61
chromosome 11p deletion syndrome 61
toriello higgins miller syndrome 43


External Ids:

ICD1025 Q77.3

Related Diseases for Chondrodysplasia Punctata Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Chondrodysplasia Punctata Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia10.4
2wagr syndrome10.4
3oculocerebrorenal syndrome10.2
4genee-wiedemann syndrome10.2
5mills syndrome10.2

Graphical network of diseases related to Chondrodysplasia Punctata Syndrome:



Diseases related to chondrodysplasia punctata syndrome

Clinical Features for Chondrodysplasia Punctata Syndrome

Drugs & Therapeutics for Chondrodysplasia Punctata Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Chondrodysplasia Punctata Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Chondrodysplasia Punctata Syndrome

Search CenterWatch for Chondrodysplasia Punctata Syndrome

Genetic Tests for Chondrodysplasia Punctata Syndrome

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22GTR
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Genetic tests related to Chondrodysplasia Punctata Syndrome:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata22

Anatomical Context for Chondrodysplasia Punctata Syndrome

Animal Models for Chondrodysplasia Punctata Syndrome or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Chondrodysplasia Punctata Syndrome

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51PubMed
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Articles related to Chondrodysplasia Punctata Syndrome:

(show all 39)
idTitleAuthorsYear
1
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. (22253471)
2012
2
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
3
Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1). (20598055)
2010
4
Conradi-HA1nermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis. (18176751)
2008
5
The nature of cartilage stippling in chondrodysplasia punctata: histopathological study of Conradi-HA1nermann syndrome. (18568995)
2008
6
Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata. (17378665)
2008
7
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. (17591464)
2007
8
Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies. (16323556)
2005
9
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
10
Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-HA1nermann-Happle syndrome. (15106076)
2004
11
Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). (12509714)
2002
12
What syndrome is this? X-linked dominant chondrodysplasia punctata (Happle). (11737694)
2001
13
Guess what! X-linked dominant chondrodysplasia punctata (Conradi-HA1nermann-Happle Syndrome). (11458930)
2001
14
Abnormal sterol metabolism in patients with Conradi-HA1nermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. (10096601)
1999
15
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383)
1998
16
Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome? (9799302)
1998
17
Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations. (9719383)
1998
18
X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males. (7677158)
1995
19
X-linked dominant chondrodysplasia punctata (Happle syndrome) with uncommon symmetrical shortening of the tubular bones. (8573932)
1995
20
XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome) (7677157)
1995
21
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
22
Prenatal diagnosis of nonrhizomelic chondrodysplasia punctata (Conradi-HA1nermann syndrome). (8135294)
1993
23
Corneal changes in chondrodysplasia punctata syndrome. (8297075)
1993
24
A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata. (8281147)
1993
25
Chondrodysplasia punctata (the Conradi-HA1nermann syndrome). A clinical case report and review of the literature]. (8341225)
1993
26
Provisionally unique autosomal recessive chondrodysplasia punctata syndrome. (8267015)
1993
27
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. (1557308)
1992
28
Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation. (1355069)
1992
29
Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata. (1613767)
1992
30
Maxillonasal dysplasia (Binder's syndrome) and chondrodysplasia punctata. (1842210)
1991
31
Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata. (2181395)
1990
32
The syndrome page. X-linked dominant chondrodysplasia punctata (Conradi-HA1nermann syndrome). (2748475)
1989
33
Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion. (2750777)
1989
34
Chondrodysplasia punctatas and the peroxisomopathies: overlapping syndrome communities. (3065763)
1988
35
Osebold-Remondini syndrome vs chondrodysplasia punctata. (3425625)
1987
36
More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2427949)
1986
37
Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2419755)
1986
38
Chondrodysplasia punctata in a nine-year-old girl presenting as "unclassified multiple malformation syndrome". (7402749)
1980
39
The chondrodysplasia punctata syndrome--the rhizomelic type. (262483)
1979

Genetic Variations for Chondrodysplasia Punctata Syndrome

Expression for genes affiliated with Chondrodysplasia Punctata Syndrome

Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Chondrodysplasia Punctata Syndrome.

Pathways for genes affiliated with Chondrodysplasia Punctata Syndrome

Compounds for genes affiliated with Chondrodysplasia Punctata Syndrome

GO Terms for genes affiliated with Chondrodysplasia Punctata Syndrome

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Sources for Chondrodysplasia Punctata Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet