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, 60UMLS, 44Novoseek, 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


External Ids:

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
The neurology of rhizomelic chondrodysplasia punctata. (24172221)
2013
2
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. (23716944)
2012
3
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. (22253471)
2012
4
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. (21990100)
2012
5
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. (22692643)
2011
6
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. (20145307)
2010
7
Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. (17950430)
2007
8
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. (16567694)
2006
9
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. (15824492)
2005
10
Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. (16225820)
2005
11
Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata. (15933890)
2005
12
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)
2003
13
Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. (12620550)
2003
14
Natural history of rhizomelic chondrodysplasia punctata. (12687664)
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
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). (10972423)
2000
19
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. (10442551)
1999
20
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. (10227689)
1999
21
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. (10511306)
1999
22
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (9536089)
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
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. (9090381)
1997
26
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. (9090383)
1997
27
Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. (8882397)
1996
28
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. (8956940)
1996
29
Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group. (8611652)
1996
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
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. (8466247)
1993
34
Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata. (8295403)
1993
35
Rhizomelic Chondrodysplasia Punctata Type 1 (20301447)
1993
36
Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata. (1409157)
1992
37
Rhizomelic chondrodysplasia punctata--a new clinical variant. (1293391)
1992
38
Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study. (1618493)
1992
39
Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts. (1347505)
1992
40
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data. (1750197)
1991
41
Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts. (1677591)
1991
42
Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother. (1773541)
1991
43
Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth. (1955304)
1991
44
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. (2208770)
1990
45
Microspherophakia in association with the rhizomelic form of chondrodysplasia punctata. (2246735)
1990
46
Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme. (2365812)
1990
47
Prenatal diagnosis of rhizomelic chondrodysplasia punctata. (3205862)
1988
48
Peroxisomal dysfunction in chondrodysplasia punctata, rhizomelic type. (3438058)
1987
49
More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2427949)
1986
50
Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. (4010717)
1985

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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