RCP
MCID: RHZ001
MIFTS: 47

Rhizomelic Chondrodysplasia Punctata (RCP) malady

Summaries for Rhizomelic Chondrodysplasia Punctata

Sources:
8Disease Ontology, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Disease Ontology:8 A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has material basis in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-dhap synthase) gene.

MalaCards: Rhizomelic Chondrodysplasia Punctata, also known as chondrodysplasia punctata, rhizomelic, is related to rhizomelic chondrodysplasia punctata type 1 and chondrodysplasia punctata syndrome. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX7 (peroxisomal biogenesis factor 7), and among its related pathways are Plasmalogen biosynthesis and Biosynthesis of unsaturated fatty acids. The compounds lignoceric acid and (3S)-3-Hydroxyadipyl-CoA have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and colon, and related mouse phenotypes are liver/biliary system and reproductive system.

Genetics Home Reference:21 Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems.

Wikipedia:64 Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic... more...

Description from OMIM:47 215100,222765,600121

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 40NCIt, 35MeSH, 57SNOMED-CT
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Aliases & Descriptions:

rhizomelic chondrodysplasia punctata 8 21 10
chondrodysplasia punctata, rhizomelic 21 61
chondrodysplasia punctata rhizomelic 45
rcdp 21
rcp 21


External Ids:

Disease Ontology8 DOID:2580
SNOMED-CT57 56692003
NCIt40 C85047
MeSH35 D018902

Related Diseases for Rhizomelic Chondrodysplasia Punctata

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Rhizomelic Chondrodysplasia Punctata:



Diseases related to rhizomelic chondrodysplasia punctata

Clinical Features for Rhizomelic Chondrodysplasia Punctata

Sources:
47OMIM
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Clinical features from OMIM:

215100,222765,600121

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

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

Search CenterWatch for Rhizomelic Chondrodysplasia Punctata

Drug clinical trials:

Search ClinicalTrials for Rhizomelic Chondrodysplasia Punctata

Search NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata

Search CenterWatch for Rhizomelic Chondrodysplasia Punctata

Genetic Tests for Rhizomelic Chondrodysplasia Punctata

Anatomical Context for Rhizomelic Chondrodysplasia Punctata

Sources:
33MalaCards
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MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

33
Brain, Spinal cord, Colon, Skin

Animal Models for Rhizomelic Chondrodysplasia Punctata or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Rhizomelic Chondrodysplasia Punctata

Sources:
51PubMed
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Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50)    (show all 78)
idTitleAuthorsYear
1
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. (23942406)
2013
2
The neurology of rhizomelic chondrodysplasia punctata. (24172221)
2013
3
Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. (23357221)
2013
4
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. (23716944)
2012
5
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. (23431749)
2012
6
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. (22253471)
2012
7
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. (21990100)
2012
8
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. (22692643)
2011
9
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. (20014169)
2010
10
Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. (17950430)
2007
11
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. (15824492)
2005
12
Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata. (15933890)
2005
13
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)
2003
14
Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. (12620550)
2003
15
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)
2002
16
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. (12325024)
2002
17
Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. (11170096)
2001
18
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. (10442551)
1999
19
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. (10327148)
1999
20
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. (10227689)
1999
21
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. (10083738)
1999
22
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. (10511306)
1999
23
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)
1997
24
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. (9090381)
1997
25
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. (9090383)
1997
26
Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. (8882397)
1996
27
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. (8956940)
1996
28
Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group. (8611652)
1996
29
Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders. (8597837)
1995
30
Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. (7991519)
1994
31
Rhizomelic chondrodysplasia punctata: early recognition with antenatal ultrasonography. (8006188)
1994
32
Prenatal sonographic diagnosis of non-rhizomelic chondrodysplasia punctata. (8159377)
1994
33
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
34
Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. (8373640)
1993
35
Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata. (8295403)
1993
36
Rhizomelic Chondrodysplasia Punctata Type 1 (20301447)
1993
37
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. (1468458)
1992
38
Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata. (1409157)
1992
39
Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study. (1618493)
1992
40
Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts. (1347505)
1992
41
Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts. (1677591)
1991
42
Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth. (1955304)
1991
43
Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata. (2181395)
1990
44
Microspherophakia in association with the rhizomelic form of chondrodysplasia punctata. (2246735)
1990
45
Polarizing inclusions in some organs of children with congenital peroxisomal diseases (Zellweger's, Refsum's, chondrodysplasia punctata (rhizomelic form), X-linked adrenoleukodystrophy). (2468818)
1988
46
Prenatal diagnosis of rhizomelic chondrodysplasia punctata. (3205862)
1988
47
Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type. (3438058)
1987
48
Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2419755)
1986
49
Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. (4010717)
1985
50
The chondrodysplasia punctata syndrome--the rhizomelic type. (262483)
1979

Genetic Variations for Rhizomelic Chondrodysplasia Punctata

Expression for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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

Pathways for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2AGPS, GNPAT
2
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10.0ACOX1, ACAA1, HADHB
310.0ACOX1, ACAA1, SCP2
4
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9.9PMVK, MVK, HADHB
5
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9.8ACOX1, ACAA1, SCP2, HADHB
6
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9.8HSD17B4, SCP2, ACAA1, ACOX1
7
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9.8PMVK, MVK, HADHB, EBP
8
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9.7HSD17B4, HADHB, SCP2, ACAA1, ACOX1
9
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9.2ACOX1, ACAA1, SLC25A17, AGPS, PHYH, SCP2
10
Hide members
8.8PMVK, HSD17B4, GNPAT, MVK, HADHB, SCP2
117.4PEX26, GNPAT, HSD17B4, PMVK, MVK, SCP2

Compounds for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
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Compounds related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1lignoceric acid4510.4GNPAT, HADHB
2(3S)-3-Hydroxyadipyl-CoA2410.4HSD17B4, HADHB
3benzoyl-coa45 2411.3HADHB, ACAA1
4dhap4510.3AGPS, GNPAT
53-oxoacyl-coa4510.3ACAA1, SCP2, GNPAT
6mevalonate pyrophosphate4510.3PMVK, MVK
7phosphomevalonate4510.3MVK, PMVK
8acetoacetyl coa4510.2PMVK, HADHB
9phytanic acid4510.2GNPAT, SCP2, PHYH, ACAA1
102-methylbutyryl-coa45 2411.2GNPAT, HADHB, ACAA1, ACOX1
11pristanic acid45 29 2412.2SCP2, GNPAT
12octanoyl-coa45 2411.2ACOX1, ACAA1, HADHB, GNPAT
13(2E)-Octenoyl-CoA2410.2ACAA1, HADHB, GNPAT, ACOX1
14(2E)-Tetradecenoyl-CoA2410.2ACOX1, ACAA1, HADHB, GNPAT
15(2E)-Dodecenoyl-CoA2410.2GNPAT, ACOX1, ACAA1, HADHB
16(2E)-Decenoyl-CoA2410.2ACOX1, ACAA1, HADHB, GNPAT
17(2E)-Hexadecenoyl-CoA2410.1GNPAT, HADHB, ACAA1, ACOX1
18stearoyl-coa45 2411.1GNPAT, HADHB, ACAA1, ACOX1
193-methylcrotonyl-coa45 2411.1ACAA1, HADHB
20Coenzyme A11 2411.1GNPAT, HADHB, ACAA1
21lanosterol45 1111.1EBP, SCP2
22acetyl-coa45 2411.0GNPAT, HADHB, SCP2, ACAA1, ACOX1
23isopentenyl diphosphate45 2910.8MVK, PMVK
24fatty acid459.8HSD17B4, GNPAT, HADHB, SCP2, PHYH, AGPS
25acyl-coa459.7PEX5, HSD17B4, GNPAT, HADHB, SCP2, SLC25A17
26sterol459.7PMVK, HSD17B4, MVK, HADHB, SCP2, EBP
27lipid459.5GNPAT, MVK, HADHB, SCP2, PHYH, ACOX1

GO Terms for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Sources:
16Gene Ontology
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Cellular components related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:0432319.8ACAA1, AGPS, SCP2, HSD17B4
2integral to peroxisomal membraneGO:0057799.3SLC25A17, PEX12, PEX2, PEX10, PEX16, PEX26
3peroxisomal matrixGO:0057829.2HSD17B4, PEX5, PEX7, ACOX1, ACAA1, AGPS
4mitochondrionGO:0057399.0HSD17B4, GNPAT, HADHB, SCP2, PHYH, AGPS
5peroxisomal membraneGO:0057788.8PEX5, PEX2, PEX12, ACOX1, SLC25A17, AGPS
6peroxisomeGO:0057777.6PEX26, PEX16, PEX10, PEX5, PEX7, PEX12

Biological processes related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1ether lipid biosynthetic processGO:00861110.3PEX7, AGPS, GNPAT
2protein import into peroxisome membraneGO:04504610.1PEX5, PEX16, PEX26
3isopentenyl diphosphate biosynthetic process, mevalonate pathwayGO:01928710.1MVK, PMVK
4bile acid biosynthetic processGO:00669910.1HSD17B4, SCP2, PEX2
5protein targeting to peroxisomeGO:00662510.1PEX16, PEX5, PEX12
6unsaturated fatty acid metabolic processGO:03355910.1HSD17B4, SCP2, ACAA1, ACOX1
7alpha-linolenic acid metabolic processGO:03610910.1ACOX1, ACAA1, SCP2, HSD17B4
8fatty acid beta-oxidation using acyl-CoA oxidaseGO:03354010.0ACOX1, ACAA1, SCP2, HSD17B4
9neuron migrationGO:00176410.0PEX5, PEX7, PEX2
10cholesterol biosynthetic processGO:0066959.9PMVK, MVK, EBP
11bile acid metabolic processGO:0082069.9ACAA1, SCP2, HSD17B4
12very long-chain fatty acid metabolic processGO:0000389.9HSD17B4, ACAA1, ACOX1, PEX2, PEX5
13fatty acid alpha-oxidationGO:0015619.8SLC25A17, PHYH
14peroxisome organizationGO:0070319.8SCP2, PEX12, PEX2, PEX7, PEX10, PEX16
15protein import into peroxisome matrixGO:0165589.6PEX26, PEX12, PEX2, PEX7, PEX5, PEX10
16fatty acid beta-oxidationGO:0066359.6PEX5, PEX7, PEX2, ACAA1, SLC25A17, HADHB
17cellular lipid metabolic processGO:0442559.4HSD17B4, GNPAT, ACOX1, ACAA1, SLC25A17, AGPS
18small molecule metabolic processGO:0442818.8PMVK, HSD17B4, GNPAT, MVK, HADHB, SCP2

Molecular functions related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1long-chain-enoyl-CoA hydratase activityGO:01650810.3HSD17B4, HADHB
2palmitoyl-CoA oxidase activityGO:01640110.2ACAA1, ACOX1
3fatty-acyl-CoA bindingGO:00006210.2SCP2, HADHB
4acetyl-CoA C-acyltransferase activityGO:00398810.1HADHB, ACAA1
53-hydroxyacyl-CoA dehydrogenase activityGO:00385710.1HADHB, HSD17B4
6FAD bindingGO:0719499.9ACOX1, AGPS
7receptor bindingGO:0051029.8HSD17B4, GNPAT, SCP2, PIPOX, ACOX1
8protein C-terminus bindingGO:0080229.8PEX26, PEX16, PEX10, PEX5, PEX12

Products for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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Sources for Rhizomelic Chondrodysplasia Punctata

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