MCID: RHZ001
MIFTS: 49

Rhizomelic Chondrodysplasia Punctata

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

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

MalaCards integrated aliases for Rhizomelic Chondrodysplasia Punctata:

Name: Rhizomelic Chondrodysplasia Punctata 12 49 24 55 36 28 14
Chondrodysplasia Punctata, Rhizomelic 24 41 69
Rcdp 49 24 55
Chondrodysplasia Punctata, Rhizomelic Form 12
Chondrodysplasia Punctata Rhizomelic 51
Rcp 24

Characteristics:

Orphanet epidemiological data:

55
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 32 E71.540
MeSH 41 D018902
NCIt 46 C85047
SNOMED-CT 64 56692003
Orphanet 55 ORPHA177
MESH via Orphanet 42 D018902
UMLS via Orphanet 70 C0282529
ICD10 via Orphanet 33 Q77.3
KEGG 36 H00207
UMLS 69 C0282529

Summaries for Rhizomelic Chondrodysplasia Punctata

NIH Rare Diseases : 49 Rhizomelic chondrodysplasia punctata (RCDP) is a type of peroxisomal disorder which impairs the normal development of many parts of the body. It is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). People with RCDP have very poor growth and often develop joint deformities (contractures) that make the joints stiff and painful. Other major features include distinctive facial features, intellectual disability, clouding of the lenses of the eyes (cataracts), heart defects, and respiratory problems. There are 5 types of RCDP, classified according to the associated genemutations:RCDP1 with PEX7 gene RCDP2 with GNPAT gene RCDP3 with AGPS gene RCDP4 (peroxisomal fatty acyl-CoA reductase 1 disorder) with FAR1 gene RCDP5 with PEX5 gene  All these genes are involved in the formation and function of sac-like cell structures called peroxisomes that contain enzymes needed to break down many substances, including fatty acids known as plasmalogens. Deficiency of plasmalogen affects bone growth. Inheritance is autosomal recessive. There is no cure for RCDP. Treatment is  symptomatic and may include physiotherapy and orthopedic procedures, eye surgery, and nutritional plans. For example, RCDP1 patients may need diet restriction of phytanic acid. Last updated: 7/7/2017

MalaCards based summary : Rhizomelic Chondrodysplasia Punctata, also known as chondrodysplasia punctata, rhizomelic, is related to rhizomelic chondrodysplasia punctata, type 5 and rhizomelic chondrodysplasia punctata, type 3, and has symptoms including abnormality of the dentition, microcephaly and epicanthus. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX5 (Peroxisomal Biogenesis Factor 5), and among its related pathways/superpathways are Glycerophospholipid metabolism and Ether lipid metabolism. Affiliated tissues include bone, eye and heart, and related phenotypes are homeostasis/metabolism and liver/biliary system

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.

Genetics Home Reference : 24 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 : 72 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:

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

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 rhizomelic chondrodysplasia punctata, type 5 33.5 AGPS GNPAT PEX5 PEX7
2 rhizomelic chondrodysplasia punctata, type 3 33.4 AGPS GNPAT PEX5 PEX7
3 rhizomelic chondrodysplasia punctata, type 2 32.9 AGPS GNPAT PEX5 PEX7 PHYH
4 rhizomelic chondrodysplasia punctata, type 1 32.0 AGPS GNPAT HADHB PEX5 PEX7 PHYH
5 chondrodysplasia punctata syndrome 31.4 GNPAT PEX5 PEX7
6 peroxisomal biogenesis disorders 30.0 PEX5 PEX7
7 zellweger syndrome 29.9 AGPS GNPAT PEX26 PEX5
8 adrenoleukodystrophy 29.7 PEX26 PEX5
9 refsum disease, classic 29.5 GNPAT PEX5 PEX7 PHYH
10 peroxisome biogenesis disorder 1a 11.4
11 peroxisome biogenesis disorder 9b 11.4
12 peroxisome biogenesis disorder 2a 11.2
13 peroxisome biogenesis disorder 3a 11.2
14 peroxisome biogenesis disorder 4a 11.2
15 peroxisome biogenesis disorder 5a 11.2
16 peroxisome biogenesis disorder 6a 11.2
17 peroxisome biogenesis disorder 7a 11.2
18 peroxisome biogenesis disorder 8a 11.2
19 peroxisome biogenesis disorder 10a 11.2
20 peroxisome biogenesis disorder 11a 11.2
21 peroxisome biogenesis disorder 12a 11.2
22 peroxisome biogenesis disorder 13a 11.2
23 peroxisomal fatty acyl-coa reductase 1 disorder 11.2
24 robin sequence with cleft mandible and limb anomalies 11.2
25 peroxisome disorders 10.5
26 cervicitis 10.4
27 cataract 10.2
28 hepatitis 10.2
29 neonatal respiratory failure 10.2
30 respiratory failure 10.2
31 heart disease 10.2
32 neuronitis 10.2
33 mulibrey nanism 10.0 PEX5 PEX7
34 breast cancer 10.0
35 neonatal adrenoleukodystrophy 9.7 PEX26 PEX5 PEX7
36 d-bifunctional protein deficiency 9.6 HADHB PEX5
37 peroxisome biogenesis disorder 1b 9.0 GNPAT PEX26 PEX5 PEX7 PHYH
38 peroxisomal disease 8.5 AGPS GNPAT HADHB PEX5 PEX7 PHYH

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:

55 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 55 31 hallmark (90%) Very frequent (99-80%) HP:0000164
2 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
4 cataract 55 31 hallmark (90%) Very frequent (99-80%) HP:0000518
5 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
6 dry skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000958
7 limitation of joint mobility 55 31 frequent (33%) Frequent (79-30%) HP:0001376
8 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
9 sparse body hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002231
10 scoliosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002650
11 spina bifida occulta 55 31 frequent (33%) Frequent (79-30%) HP:0003298
12 ichthyosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008064
13 rhizomelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008905
14 epiphyseal stippling 55 31 hallmark (90%) Very frequent (99-80%) HP:0010655
15 intellectual disability, severe 55 31 occasional (7.5%) Occasional (29-5%) HP:0010864
16 flat face 55 31 frequent (33%) Frequent (79-30%) HP:0012368
17 growth delay 55 Very frequent (99-80%)
18 short stature 55 Very frequent (99-80%)
19 abnormality of epiphysis morphology 55 Very frequent (99-80%)
20 limb undergrowth 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 PHYH AGPS GNPAT HADHB PEX26 PEX5
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:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Rhizomelic Chondrodysplasia Punctata 28

Anatomical Context for Rhizomelic Chondrodysplasia Punctata

MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

38
Bone, Eye, Heart, Brain, Skin, Spinal Cord, Colon

Publications for Rhizomelic Chondrodysplasia Punctata

Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50) (show all 85)
# Title Authors Year
1
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. ( 28614284 )
2017
2
Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation. ( 28742517 )
2017
3
Neonatal Rhizomelic Chondrodysplasia Punctata Type 1: Weaving Evidence Into Clinical Practice. ( 29068853 )
2017
4
Growth charts for individuals with rhizomelic chondrodysplasia punctata. ( 27616591 )
2016
5
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. ( 26220973 )
2015
6
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. ( 25800479 )
2015
7
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. ( 26587300 )
2015
8
Congenital heart defects common in rhizomelic chondrodysplasia punctata. ( 26408048 )
2015
9
Rare Case of Rhizomelic Chondrodysplasia Punctata. ( 27299065 )
2015
10
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and SjAPgren-Larsson syndrome. ( 25432520 )
2015
11
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. ( 24849933 )
2014
12
A case of rhizomelic chondrodysplasia punctata in newborn. ( 24715923 )
2014
13
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. ( 23462609 )
2013
14
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. ( 23942406 )
2013
15
Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. ( 23357221 )
2013
16
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. ( 24049758 )
2013
17
Rhizomelic chondrodysplasia punctata and cardiac pathology. ( 23572185 )
2013
18
The neurology of rhizomelic chondrodysplasia punctata. ( 24172221 )
2013
19
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. ( 23716944 )
2012
20
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. ( 21990100 )
2012
21
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. ( 23431749 )
2012
22
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. ( 22253471 )
2012
23
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. ( 22052861 )
2011
24
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. ( 22692643 )
2011
25
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. ( 20014169 )
2010
26
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. ( 20145307 )
2010
27
Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. ( 17950430 )
2007
28
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. ( 16567694 )
2006
29
Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. ( 16225820 )
2005
30
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. ( 15824492 )
2005
31
Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata. ( 15933890 )
2005
32
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. ( 12915479 )
2003
33
Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. ( 12620550 )
2003
34
Natural history of rhizomelic chondrodysplasia punctata. ( 12687664 )
2003
35
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. ( 11901023 )
2002
36
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. ( 11781871 )
2002
37
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. ( 12325024 )
2002
38
Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. ( 11170096 )
2001
39
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). ( 10972423 )
2000
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
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. ( 10327148 )
1999
43
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. ( 10227689 )
1999
44
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. ( 10083738 )
1999
45
Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients. ( 9686382 )
1998
46
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. ( 9536089 )
1998
47
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. ( 9686383 )
1998
48
Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. ( 9039662 )
1997
49
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. ( 9266377 )
1997
50
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. ( 9090381 )
1997

Variations for Rhizomelic Chondrodysplasia Punctata

ClinVar genetic disease variations for Rhizomelic Chondrodysplasia Punctata:

6
# 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 KEGG:

36
# Name Kegg Source Accession
1 Glycerophospholipid metabolism hsa00564
2 Ether lipid metabolism hsa00565
3 Peroxisome hsa04146

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.1 AGPS GNPAT
2 11.09 AGPS GNPAT MVK PEX26 PEX5 PEX7
3
Show member pathways
10.86 AGPS GNPAT PHYH
4
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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.58 AGPS HADHB MVK
2 neuron migration GO:0001764 9.43 PEX5 PEX7
3 peroxisome organization GO:0007031 9.37 PEX5 PEX7
4 fatty acid beta-oxidation GO:0006635 9.33 HADHB PEX5 PEX7
5 cellular lipid metabolic process GO:0044255 9.32 GNPAT PEX5
6 protein import into peroxisome membrane GO:0045046 9.26 PEX26 PEX5
7 protein import into peroxisome matrix GO:0016558 9.13 PEX26 PEX5 PEX7
8 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....