RCP
MCID: RHZ001
MIFTS: 47

Rhizomelic Chondrodysplasia Punctata (RCP) malady

Categories: Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

Aliases & Descriptions for Rhizomelic Chondrodysplasia Punctata:

Name: Rhizomelic Chondrodysplasia Punctata 12 25 56 14
Chondrodysplasia Punctata, Rhizomelic 25 29 42 69
Rcdp 25 56
Chondrodysplasia Punctata, Rhizomelic Form 12
Chondrodysplasia Punctata Rhizomelic 52
Rcp 25

Characteristics:

Orphanet epidemiological data:

56
rhizomelic chondrodysplasia punctata
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:2580
ICD10 33 E71.540
MeSH 42 D018902
NCIt 47 C85047
SNOMED-CT 64 56692003
Orphanet 56 ORPHA177
MESH via Orphanet 43 D018902
UMLS via Orphanet 70 C0282529
ICD10 via Orphanet 34 Q77.3
UMLS 69 C0282529

Summaries for Rhizomelic Chondrodysplasia Punctata

Disease Ontology : 12 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 based summary : Rhizomelic Chondrodysplasia Punctata, also known as chondrodysplasia punctata, rhizomelic, is related to rhizomelic chondrodysplasia punctata type 5 and chondrodysplasia punctata, rhizomelic, type 1, and has symptoms including dry skin, scoliosis and cataract. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX5 (Peroxisomal Biogenesis Factor 5), and among its related pathways/superpathways are Peroxisome and Peroxisomal lipid metabolism. Affiliated tissues include bone, brain and skin, and related phenotypes are homeostasis/metabolism and liver/biliary system

Genetics Home Reference : 25 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 : 71 Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic... more...

Related Diseases for Rhizomelic Chondrodysplasia Punctata

Diseases in the Rhizomelic Chondrodysplasia Punctata family:

Chondrodysplasia Punctata, Rhizomelic, Type 2 Chondrodysplasia Punctata, Rhizomelic, Type 3
Chondrodysplasia Punctata, Rhizomelic, Type 1 Rhizomelic Chondrodysplasia Punctata Type 5
Rhizomelic Chondrodysplasia Punctata Spectrum

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

(show all 49)
id Related Disease Score Top Affiliating Genes
1 rhizomelic chondrodysplasia punctata type 5 12.6
2 chondrodysplasia punctata, rhizomelic, type 1 12.2
3 chondrodysplasia punctata, rhizomelic, type 3 12.2
4 chondrodysplasia punctata, rhizomelic, type 2 12.2
5 rhizomelic chondrodysplasia punctata spectrum 12.1
6 peroxisome biogenesis disorder 9b 11.3
7 peroxisome biogenesis disorder 1a 11.3
8 peroxisome biogenesis disorder 12a 11.1
9 peroxisome biogenesis disorder 7a 11.1
10 peroxisome biogenesis disorder 11a 11.1
11 peroxisome biogenesis disorder 4a 11.1
12 peroxisome biogenesis disorder 10a 11.1
13 peroxisome biogenesis disorder 5a 11.1
14 peroxisomal fatty acyl-coa reductase 1 disorder 11.1
15 peroxisome biogenesis disorder 8a, 11.1
16 peroxisome biogenesis disorder 6a 11.1
17 peroxisome biogenesis disorder 2a 11.1
18 peroxisome biogenesis disorder 13a 11.1
19 peroxisome biogenesis disorder 3a 11.1
20 robin sequence with cleft mandible and limb anomalies 11.0
21 zellweger syndrome 10.4
22 peroxisome disorders 10.4
23 cervicitis 10.2
24 refsum disease 10.2
25 adrenoleukodystrophy 10.1
26 cataract 10.1
27 hepatitis 10.1
28 neonatal respiratory failure 10.1
29 respiratory failure 10.1
30 neuronitis 10.1
31 peroxisomal biogenesis disorders 10.1
32 growth hormone deficiency, isolated, type ii 10.0 PEX5 PEX7
33 spinocerebellar ataxia, autosomal recessive 13 9.9 HADHB PEX7
34 deafness, dystonia, and cerebral hypomyelination 9.9 PEX26 PEX5
35 doughnut lesions of skull, familial 9.9 GNPAT PEX5 PEX7
36 pulmonary fibrosis, familial 9.9 PEX26 PEX5
37 phacomatosis pigmentokeratotica 9.9 PEX5 PEX7
38 breast cancer 9.9
39 heimler syndrome 1 9.8 GNPAT PEX26 PEX5
40 nephrotic syndrome ocular anomalies 9.8 PEX26 PEX5 PEX7
41 bardet-biedl syndrome 5 9.8 AGPS GNPAT PEX5 PEX7
42 holoprosencephaly 6 9.8 AGPS GNPAT PEX5 PEX7
43 muscular dystrophy, congenital, 1b 9.8 AGPS GNPAT PEX5 PEX7
44 macroglobulinemia 9.7 AGPS GNPAT PEX26 PEX5
45 asparagine synthetase deficiency 9.6 GNPAT PEX26 PEX5 PEX7 PHYH
46 parapsoriasis 9.5 GNPAT HADHB MVK PEX5
47 phacomatosis pigmentovascularis 9.3 AGPS GNPAT HADHB PEX5 PEX7 PHYH
48 diabetes, mellitus, insulin-dependent 10 9.2 GNPAT HADHB PEX26 PEX5 PEX7 PHYH
49 glottis neoplasm 8.9 AGPS GNPAT HADHB MVK PEX26 PEX5

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



Diseases related to Rhizomelic Chondrodysplasia Punctata

Symptoms & Phenotypes for Rhizomelic Chondrodysplasia Punctata

Human phenotypes related to Rhizomelic Chondrodysplasia Punctata:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 56 32 Very frequent (99-80%) HP:0000958
2 scoliosis 56 32 Very frequent (99-80%) HP:0002650
3 cataract 56 32 Very frequent (99-80%) HP:0000518
4 abnormality of the teeth 56 32 Very frequent (99-80%) HP:0000164
5 microcephaly 56 32 Very frequent (99-80%) HP:0000252
6 ichthyosis 56 32 Very frequent (99-80%) HP:0008064
7 intellectual disability, severe 56 32 Occasional (29-5%) HP:0010864
8 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
9 epicanthus 56 32 Very frequent (99-80%) HP:0000286
10 limitation of joint mobility 56 32 Frequent (79-30%) HP:0001376
11 epiphyseal stippling 56 32 Very frequent (99-80%) HP:0010655
12 flat face 56 32 Frequent (79-30%) HP:0012368
13 rhizomelia 56 32 Very frequent (99-80%) HP:0008905
14 alopecia 56 32 Occasional (29-5%) HP:0001596
15 spina bifida occulta 56 32 Frequent (79-30%) HP:0003298
16 sparse body hair 56 32 Very frequent (99-80%) HP:0002231
17 abnormality of epiphysis morphology 56 Very frequent (99-80%)
18 short stature 56 Very frequent (99-80%)
19 growth delay 56 Very frequent (99-80%)
20 limb undergrowth 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 HADHB PEX26 PEX5 PEX7 PHYH AGPS
2 liver/biliary system MP:0005370 9.26 HADHB PEX5 PEX7 PHYH
3 reproductive system MP:0005389 9.02 AGPS GNPAT PEX5 PEX7 PHYH

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

Interventional clinical trials:


id Name Status NCT ID Phase
1 Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) Recruiting NCT01668186

Search NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata

Cochrane evidence based reviews: chondrodysplasia punctata, rhizomelic

Genetic Tests for Rhizomelic Chondrodysplasia Punctata

Genetic tests related to Rhizomelic Chondrodysplasia Punctata:

id Genetic test Affiliating Genes
1 Rhizomelic Chondrodysplasia Punctata 29

Anatomical Context for Rhizomelic Chondrodysplasia Punctata

MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

39
Bone, Brain, Skin, Eye, Heart, Colon, Spinal Cord

Publications for Rhizomelic Chondrodysplasia Punctata

Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50) (show all 82)
id Title Authors Year
1
Growth charts for individuals with rhizomelic chondrodysplasia punctata. ( 27616591 )
2016
2
Congenital heart defects common in rhizomelic chondrodysplasia punctata. ( 26408048 )
2015
3
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. ( 26587300 )
2015
4
Rare Case of Rhizomelic Chondrodysplasia Punctata. ( 27299065 )
2015
5
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. ( 25800479 )
2015
6
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. ( 26220973 )
2015
7
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and SjAPgren-Larsson syndrome. ( 25432520 )
2015
8
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. ( 24849933 )
2014
9
A case of rhizomelic chondrodysplasia punctata in newborn. ( 24715923 )
2014
10
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. ( 23462609 )
2013
11
The neurology of rhizomelic chondrodysplasia punctata. ( 24172221 )
2013
12
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. ( 23942406 )
2013
13
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. ( 24049758 )
2013
14
Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. ( 23357221 )
2013
15
Rhizomelic chondrodysplasia punctata and cardiac pathology. ( 23572185 )
2013
16
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. ( 23431749 )
2012
17
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. ( 23716944 )
2012
18
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. ( 21990100 )
2012
19
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
20
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. ( 22052861 )
2011
21
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. ( 22692643 )
2011
22
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. ( 20145307 )
2010
23
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. ( 20014169 )
2010
24
Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. ( 17950430 )
2007
25
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. ( 16567694 )
2006
26
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. ( 15824492 )
2005
27
Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata. ( 15933890 )
2005
28
Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. ( 16225820 )
2005
29
Natural history of rhizomelic chondrodysplasia punctata. ( 12687664 )
2003
30
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. ( 12915479 )
2003
31
Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. ( 12620550 )
2003
32
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. ( 12325024 )
2002
33
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. ( 11781871 )
2002
34
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. ( 11901023 )
2002
35
Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. ( 11170096 )
2001
36
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). ( 10972423 )
2000
37
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. ( 10083738 )
1999
38
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. ( 10327148 )
1999
39
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. ( 10227689 )
1999
40
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. ( 10442551 )
1999
41
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. ( 10511306 )
1999
42
Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients. ( 9686382 )
1998
43
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. ( 9686383 )
1998
44
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. ( 9536089 )
1998
45
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. ( 9090383 )
1997
46
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. ( 9266377 )
1997
47
Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. ( 9039662 )
1997
48
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. ( 9090382 )
1997
49
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. ( 9090381 )
1997
50
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

Variations for Rhizomelic Chondrodysplasia Punctata

ClinVar genetic disease variations for Rhizomelic Chondrodysplasia Punctata:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PEX5 NM_001131023.1(PEX5): c.722dupA (p.Val242Glyfs) duplication Pathogenic rs796051881 GRCh38 Chromosome 12, 7202275: 7202275

Expression for Rhizomelic Chondrodysplasia Punctata

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

Pathways for Rhizomelic Chondrodysplasia Punctata

Pathways related to Rhizomelic Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.09 AGPS GNPAT MVK PEX26 PEX5 PEX7
2
Show member pathways
10.86 AGPS GNPAT PHYH
3
Show member pathways
10.52 AGPS GNPAT

GO Terms for Rhizomelic Chondrodysplasia Punctata

Cellular components related to Rhizomelic Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 AGPS GNPAT HADHB PEX5 PHYH
2 peroxisomal membrane GO:0005778 9.46 AGPS GNPAT PEX26 PEX5
3 peroxisomal matrix GO:0005782 9.26 AGPS GNPAT PEX7 PHYH
4 peroxisome GO:0005777 9.17 AGPS GNPAT MVK PEX26 PEX5 PEX7

Biological processes related to Rhizomelic Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.63 AGPS HADHB MVK
2 metabolic process GO:0008152 9.58 GNPAT HADHB MVK
3 neuron migration GO:0001764 9.43 PEX5 PEX7
4 cellular lipid metabolic process GO:0044255 9.37 GNPAT PEX5
5 fatty acid beta-oxidation GO:0006635 9.33 HADHB PEX5 PEX7
6 peroxisome organization GO:0007031 9.32 PEX5 PEX7
7 protein import into peroxisome membrane GO:0045046 9.26 PEX26 PEX5
8 protein import into peroxisome matrix GO:0016558 9.13 PEX26 PEX5 PEX7
9 ether lipid biosynthetic process GO:0008611 8.8 AGPS GNPAT PEX7

Sources for Rhizomelic Chondrodysplasia Punctata

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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