RCP
MCID: RHZ001
MIFTS: 48

Rhizomelic Chondrodysplasia Punctata (RCP) malady

Summaries for Rhizomelic Chondrodysplasia Punctata

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8Disease Ontology, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 zellweger 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 bone, brain and spinal cord, 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:63 Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic... more...

Description from OMIM:46 215100,222765,600121

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

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8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 39NCIt, 34MeSH, 56SNOMED-CT
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Aliases & Descriptions:

rhizomelic chondrodysplasia punctata 8 21 10
chondrodysplasia punctata, rhizomelic 21 60
chondrodysplasia punctata rhizomelic 44
rcdp 21
rcp 21


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Disease Ontology8 DOID:2580
SNOMED-CT56 56692003
NCIt39 C85047
MeSH34 D018902

Related Diseases for Rhizomelic Chondrodysplasia Punctata

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17GeneCards, 18GeneDecks
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Diseases in the Rhizomelic Chondrodysplasia Punctata Type 1 family:

rhizomelic chondrodysplasia punctata Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelic Chondrodysplasia Punctata Type 2 Rhizomelic Chondrodysplasia Punctata Spectrum

Diseases related to Rhizomelic Chondrodysplasia Punctata via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1rhizomelic chondrodysplasia punctata type 131.4HSD17B4, HADHB, SCP2, ACOX1, PEX7
2zellweger syndrome30.9PEX12, PEX2, PEX5, PEX10, PEX16, PEX26
3refsum disease30.6GNPAT, PHYH, PIPOX, PEX7
4cataract30.4MVK
5adrenoleukodystrophy30.4HSD17B4, GNPAT, HADHB, SCP2, PEX26, PEX10
6rhizomelic chondrodysplasia punctata, type 310.8
7rhizomelic chondrodysplasia punctata type 210.8
8cervicitis10.5
9peroxisomal disease10.5
10rhizomelic chondrodysplasia punctata spectrum10.5
11non-rhizomelic chondrodysplasia punctata10.5
12neonatal respiratory failure10.3
13neuronitis10.3
14peroxisomal acyl-coa oxidase deficiency10.3
15hepatitis10.3
16respiratory failure10.3
17x-linked disease10.3
18peroxisome biogenesis disorder 9b10.3
19peroxisome biogenesis disorder 1a10.3
20bladder carcinoma10.0
21breast cancer10.0
22children's interstitial lung disease10.0EBP
23chondrodysplasia punctata 2 x-linked dominant10.0EBP, GNPAT
24refsum disease, infantile form10.0PEX2, PEX26
25mevalonic aciduria10.0MVK
26chondrodysplasia punctata syndrome10.0ACAA1, EBP, GNPAT
27d-bifunctional protein deficiency10.0ACOX1, SCP2, HADHB, HSD17B4
28mulibrey nanism10.0PEX5, PEX7
29neonatal adrenoleukodystrophy10.0PEX10, PEX5, SCP2
30beta-ketothiolase deficiency10.0ACAA1
31zellweger spectrum10.0PEX12, PEX5, PEX10, PEX16, PEX26
32infantile refsum disease10.0PEX12, PEX2, PEX10, PEX26, SLC25A17, PHYH
33peroxisome disorders10.0HSD17B4, GNPAT, HADHB, PHYH, AGPS, SLC25A17

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



Diseases related to rhizomelic chondrodysplasia punctata

Clinical Features for Rhizomelic Chondrodysplasia Punctata

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46OMIM
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Clinical features from OMIM:

215100,222765,600121

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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Anatomical Context for Rhizomelic Chondrodysplasia Punctata

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32MalaCards
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MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

32
Bone, Brain, Spinal cord, Colon, Skin

Animal Models for Rhizomelic Chondrodysplasia Punctata or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.7PEX7, HSD17B4, HADHB, SCP2, PHYH, ACOX1
2MP:00053899.5GNPAT, PHYH, AGPS, ACOX1, PEX7, PEX5
3MP:00053799.1HSD17B4, GNPAT, AGPS, ACOX1, PEX2, PEX7
4MP:00053789.0HSD17B4, GNPAT, HADHB, SCP2, PHYH, EBP
5MP:00053768.9SCP2, HADHB, GNPAT, HSD17B4, PHYH, AGPS

Publications for Rhizomelic Chondrodysplasia Punctata

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50PubMed
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Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50)    (show all 78)
idTitleAuthorsYear
1
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. (24049758)
2013
2
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. (23942406)
2013
3
Rhizomelic chondrodysplasia punctata and cardiac pathology. (23572185)
2013
4
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. (23462609)
2013
5
Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. (23357221)
2013
6
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. (23431749)
2012
7
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)
2011
8
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. (20014169)
2010
9
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. (20145307)
2010
10
Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. (17950430)
2007
11
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. (16567694)
2006
12
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. (15824492)
2005
13
Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. (16225820)
2005
14
Natural history of rhizomelic chondrodysplasia punctata. (12687664)
2003
15
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. (11781871)
2002
16
Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. (11170096)
2001
17
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). (10972423)
2000
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
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. (10083738)
1999
21
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (9536089)
1998
22
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383)
1998
23
Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients. (9686382)
1998
24
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. (9090382)
1997
25
Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. (9039662)
1997
26
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)
1997
27
Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata. (8725164)
1996
28
Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders. (8597837)
1995
29
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
30
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. (8466247)
1993
31
Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. (8373640)
1993
32
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. (1468458)
1992
33
Rhizomelic chondrodysplasia punctata--a new clinical variant. (1293391)
1992
34
Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts. (1347505)
1992
35
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data. (1750197)
1991
36
Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts. (1677591)
1991
37
Rhizomelic chondrodysplasia punctata: biochemical studies of peroxisomes isolated from cultured skin fibroblasts. (1680308)
1991
38
Cranial MR imaging in rhizomelic chondrodysplasia punctata. (1902045)
1991
39
Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother. (1773541)
1991
40
Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth. (1955304)
1991
41
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. (2208770)
1990
42
Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester. (2122105)
1990
43
Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata. (2181395)
1990
44
Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme. (2365812)
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
Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients. (3171792)
1988
47
Biochemical abnormalities in rhizomelic chondrodysplasia punctata. (2452243)
1988
48
More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2427949)
1986
49
Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2419755)
1986
50
The chondrodysplasia punctata syndrome--the rhizomelic type. (262483)
1979

Genetic Variations for Rhizomelic Chondrodysplasia Punctata

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Expression for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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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

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53Reactome, 29KEGG, 37NCBI 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
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8.8PMVK, HSD17B4, GNPAT, MVK, HADHB, SCP2
117.4PEX26, GNPAT, HSD17B4, PMVK, MVK, SCP2

Compounds for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1lignoceric acid4410.4GNPAT, HADHB
2(3S)-3-Hydroxyadipyl-CoA2410.4HSD17B4, HADHB
3benzoyl-coa44 2411.3HADHB, ACAA1
4dhap4410.3AGPS, GNPAT
53-oxoacyl-coa4410.3ACAA1, SCP2, GNPAT
6mevalonate pyrophosphate4410.3PMVK, MVK
7phosphomevalonate4410.3MVK, PMVK
8acetoacetyl coa4410.2PMVK, HADHB
9phytanic acid4410.2GNPAT, SCP2, PHYH, ACAA1
102-methylbutyryl-coa44 2411.2GNPAT, HADHB, ACAA1, ACOX1
11pristanic acid44 28 2412.2SCP2, GNPAT
12octanoyl-coa44 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-coa44 2411.1GNPAT, HADHB, ACAA1, ACOX1
193-methylcrotonyl-coa44 2411.1ACAA1, HADHB
20Coenzyme A11 2411.1GNPAT, HADHB, ACAA1
21lanosterol44 1111.1EBP, SCP2
22acetyl-coa44 2411.0GNPAT, HADHB, SCP2, ACAA1, ACOX1
23isopentenyl diphosphate44 2810.8MVK, PMVK
24fatty acid449.8HSD17B4, GNPAT, HADHB, SCP2, PHYH, AGPS
25acyl-coa449.7PEX5, HSD17B4, GNPAT, HADHB, SCP2, SLC25A17
26sterol449.7PMVK, HSD17B4, MVK, HADHB, SCP2, EBP
27lipid449.5GNPAT, MVK, HADHB, SCP2, PHYH, ACOX1

GO Terms for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
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57SNOMED-CT via Orphanet
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