MCID: RHZ001
MIFTS: 46

Rhizomelic Chondrodysplasia Punctata malady

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

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

About this section
Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Rhizomelic Chondrodysplasia Punctata:

Name: Rhizomelic Chondrodysplasia Punctata 11 25 54 13
Chondrodysplasia Punctata, Rhizomelic 25 27 39 68
Rcdp 25 54
 
Chondrodysplasia Punctata Rhizomelic 50
Rcp 25

Characteristics:

Orphanet epidemiological data:

54
rhizomelic chondrodysplasia punctata:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:2580
ICD1030 E71.540
MeSH39 D018902
NCIt45 C85047
SNOMED-CT62 56692003
Orphanet54 ORPHA177
MESH via Orphanet40 D018902
UMLS via Orphanet69 C0282529
ICD10 via Orphanet31 Q77.3

Summaries for Rhizomelic Chondrodysplasia Punctata

About this section
Disease Ontology:11 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 peroxisome biogenesis disorder 9b and rhizomelic chondrodysplasia punctata type 5, and has symptoms including abnormality of the teeth, microcephaly and epicanthus. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX5 (Peroxisomal Biogenesis Factor 5), and among its related pathways are Peroxisomal lipid metabolism and Peroxisome. Affiliated tissues include bone, brain and skin, and related mouse phenotypes are liver/biliary system and reproductive 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

About this section

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 Spectrum
Rhizomelic Chondrodysplasia Punctata Type 5

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome biogenesis disorder 9b31.0HADHB, PEX5, PEX7
2rhizomelic chondrodysplasia punctata type 512.5
3chondrodysplasia punctata, rhizomelic, type 112.2
4chondrodysplasia punctata, rhizomelic, type 312.1
5chondrodysplasia punctata, rhizomelic, type 212.1
6rhizomelic chondrodysplasia punctata spectrum12.1
7peroxisome biogenesis disorder 1a11.3
8peroxisome biogenesis disorder 6a11.1
9peroxisome biogenesis disorder 13a11.1
10peroxisome biogenesis disorder 12a11.1
11peroxisome biogenesis disorder 11a11.1
12peroxisome biogenesis disorder 4a11.1
13peroxisome biogenesis disorder 10a11.1
14peroxisome biogenesis disorder 5a11.1
15peroxisomal fatty acyl-coa reductase 1 disorder11.1
16peroxisome biogenesis disorder 8a,11.1
17peroxisome biogenesis disorder 2a11.1
18peroxisome biogenesis disorder 3a11.1
19peroxisome biogenesis disorder 7a11.1
20robin sequence with cleft mandible and limb anomalies11.0
21peroxisome disorders10.4
22refsum disease10.2
23cervicitis10.2
24adrenoleukodystrophy10.1
25cataract10.1
26hepatitis10.1
27neonatal respiratory failure10.1
28respiratory failure10.1
29neuronitis10.1
30peroxisomal biogenesis disorders10.1
31polycystic kidney disease, autosomal dominant9.9PEX26, PEX5
32deafness, dystonia, and cerebral hypomyelination9.9PEX26, PEX5
33breast cancer9.9
34growth hormone deficiency, isolated, type ii9.9PEX5, PEX7
35metaphyseal dysplasia, braun-tinschert type9.8GNPAT, PEX5, PEX7
36pepck 2 deficiency9.6PEX26, PEX5, PEX7
37peroxisomal disease9.6PEX26, PEX5
38granulosa cell tumor of the ovary9.6PEX26, PEX5, PEX7
39ritter's disease9.0GNPAT, HADHB, MVK, PEX5
40heimler syndrome 18.9GNPAT, PEX26, PEX5, PEX7, PHYH
41larynx cancer8.6AGPS, GNPAT, PEX26, PEX5, PEX7, PHYH
42immunodeficiency 41 with lymphoproliferation and autoimmunity8.2GNPAT, HADHB, PEX26, 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

About this section

Human phenotypes related to Rhizomelic Chondrodysplasia Punctata:

 64 54 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth64 54 hallmark (90%) Very frequent (99-80%) HP:0000164
2 microcephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000252
3 epicanthus64 54 hallmark (90%) Very frequent (99-80%) HP:0000286
4 cataract64 54 hallmark (90%) Very frequent (99-80%) HP:0000518
5 abnormality of the metaphyses64 54 hallmark (90%) Very frequent (99-80%) HP:0000944
6 dry skin64 54 hallmark (90%) Very frequent (99-80%) HP:0000958
7 scoliosis64 54 hallmark (90%) Very frequent (99-80%) HP:0002650
8 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
9 ichthyosis64 54 hallmark (90%) Very frequent (99-80%) HP:0008064
10 limb undergrowth64 54 hallmark (90%) Very frequent (99-80%) HP:0009826
11 epiphyseal stippling64 54 hallmark (90%) Very frequent (99-80%) HP:0010655
12 abnormal hair quantity64 hallmark (90%) HP:0011362
13 malar flattening64 typical (50%) HP:0000272
14 limitation of joint mobility64 54 typical (50%) Frequent (79-30%) HP:0001376
15 spina bifida occulta64 54 typical (50%) Frequent (79-30%) HP:0003298
16 cognitive impairment64 occasional (7.5%) HP:0100543
17 growth delay54 Very frequent (99-80%)
18 alopecia54 Occasional (29-5%)
19 sparse body hair54 Very frequent (99-80%)
20 abnormality of epiphysis morphology54 Very frequent (99-80%)
21 rhizomelia54 Very frequent (99-80%)
22 intellectual disability, severe54 Occasional (29-5%)
23 flat face54 Frequent (79-30%)

MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.2HADHB, PEX5, PEX7, PHYH
2MP:00053898.4AGPS, GNPAT, PEX5, PEX7, PHYH
3MP:00053767.7AGPS, GNPAT, HADHB, PEX26, PEX5, PEX7

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)RecruitingNCT01668186

Search NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata


Cochrane evidence based reviews: chondrodysplasia punctata, rhizomelic

Genetic Tests for Rhizomelic Chondrodysplasia Punctata

About this section

Genetic tests related to Rhizomelic Chondrodysplasia Punctata:

id Genetic test Affiliating Genes
1 Rhizomelic Chondrodysplasia Punctata27

Anatomical Context for Rhizomelic Chondrodysplasia Punctata

About this section

MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

36
Bone, Brain, Skin, Eye, Colon, Spinal cord, Heart

Publications for Rhizomelic Chondrodysplasia Punctata

About this section

Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
Growth charts for individuals with rhizomelic chondrodysplasia punctata. (27616591)
2016
2
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. (26220973)
2015
3
Congenital heart defects common in rhizomelic chondrodysplasia punctata. (26408048)
2015
4
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1. (26587300)
2015
5
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. (25800479)
2015
6
Rare Case of Rhizomelic Chondrodysplasia Punctata. (27299065)
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
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. (23942406)
2013
11
Rhizomelic chondrodysplasia punctata and cardiac pathology. (23572185)
2013
12
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. (23462609)
2013
13
Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. (23357221)
2013
14
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. (24049758)
2013
15
The neurology of rhizomelic chondrodysplasia punctata. (24172221)
2013
16
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. (23431749)
2012
17
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. (22253471)
2012
18
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. (23716944)
2012
19
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. (21990100)
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
Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. (16225820)
2005
28
Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata. (15933890)
2005
29
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)
2003
30
Natural history of rhizomelic chondrodysplasia punctata. (12687664)
2003
31
Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. (12620550)
2003
32
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)
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
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. (12325024)
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
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. (10227689)
1999
38
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. (10442551)
1999
39
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. (10327148)
1999
40
A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata. (10083738)
1999
41
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. (10511306)
1999
42
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383)
1998
43
Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients. (9686382)
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
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. (9090382)
1997
47
Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. (9039662)
1997
48
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)
1997
49
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. (9090381)
1997
50
Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. (8882397)
1996

Variations for Rhizomelic Chondrodysplasia Punctata

About this section

Clinvar genetic disease variations for Rhizomelic Chondrodysplasia Punctata:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PEX5NM_001131023.1(PEX5): c.722dupA (p.Val242Glyfs)duplicationPathogenicrs796051881GRCh38Chr 12, 7202275: 7202275
2PEX7NM_000288.3(PEX7): c.340-10A> GSNVPathogenicrs267608255GRCh37Chr 6, 137166743: 137166743

Expression for genes affiliated with Rhizomelic Chondrodysplasia Punctata

About this section
Search GEO for disease gene expression data for Rhizomelic Chondrodysplasia Punctata.

Pathways for genes affiliated with Rhizomelic Chondrodysplasia Punctata

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1AGPS, GNPAT, PHYH
27.2AGPS, GNPAT, MVK, PEX26, PEX5, PEX7

GO Terms for genes affiliated with Rhizomelic Chondrodysplasia Punctata

About this section

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

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:00057789.8AGPS, GNPAT, PEX5
2peroxisomal matrixGO:00057829.3AGPS, GNPAT, PEX7, PHYH
3peroxisomeGO:00057777.2AGPS, GNPAT, MVK, PEX26, PEX5, PEX7

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

idNameGO IDScoreTop Affiliating Genes
1neuron migrationGO:000176410.2PEX5, PEX7
2peroxisome organizationGO:000703110.1PEX5, PEX7
3ether lipid biosynthetic processGO:00086119.8AGPS, GNPAT, PEX7
4protein import into peroxisome membraneGO:00450469.5PEX26, PEX5
5fatty acid beta-oxidationGO:00066359.5HADHB, PEX5, PEX7
6protein import into peroxisome matrixGO:00165589.3PEX26, PEX5, PEX7

Sources for Rhizomelic Chondrodysplasia Punctata

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet