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

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Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 38MeSH, 39MESH via Orphanet, 44NCIt, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Rhizomelic Chondrodysplasia Punctata:

Name: Rhizomelic Chondrodysplasia Punctata 11 25 53 13
Chondrodysplasia Punctata, Rhizomelic 25 26 38 67
Rcdp 25 53
 
Chondrodysplasia Punctata Rhizomelic 49
Rcp 25

Characteristics:

Orphanet epidemiological data:

53
rhizomelic chondrodysplasia punctata:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:2580
ICD1029 E71.540
MeSH38 D018902
NCIt44 C85047
SNOMED-CT61 56692003
Orphanet53 ORPHA177
MESH via Orphanet39 D018902
UMLS via Orphanet68 C0282529
ICD10 via Orphanet30 Q77.3

Summaries for Rhizomelic Chondrodysplasia Punctata

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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:70 Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic... more...

Related Diseases for Rhizomelic Chondrodysplasia Punctata

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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 for Rhizomelic Chondrodysplasia Punctata

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Human phenotypes related to Rhizomelic Chondrodysplasia Punctata:

 63 53 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth63 53 hallmark (90%) Very frequent (99-80%) HP:0000164
2 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
3 epicanthus63 53 hallmark (90%) Very frequent (99-80%) HP:0000286
4 cataract63 53 hallmark (90%) Very frequent (99-80%) HP:0000518
5 abnormality of the metaphyses63 53 hallmark (90%) Very frequent (99-80%) HP:0000944
6 dry skin63 53 hallmark (90%) Very frequent (99-80%) HP:0000958
7 scoliosis63 53 hallmark (90%) Very frequent (99-80%) HP:0002650
8 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
9 ichthyosis63 53 hallmark (90%) Very frequent (99-80%) HP:0008064
10 limb undergrowth63 53 hallmark (90%) Very frequent (99-80%) HP:0009826
11 epiphyseal stippling63 53 hallmark (90%) Very frequent (99-80%) HP:0010655
12 abnormal hair quantity63 hallmark (90%) HP:0011362
13 malar flattening63 typical (50%) HP:0000272
14 limitation of joint mobility63 53 typical (50%) Frequent (79-30%) HP:0001376
15 spina bifida occulta63 53 typical (50%) Frequent (79-30%) HP:0003298
16 cognitive impairment63 occasional (7.5%) HP:0100543
17 growth delay53 Very frequent (99-80%)
18 alopecia53 Occasional (29-5%)
19 sparse body hair53 Very frequent (99-80%)
20 abnormality of epiphysis morphology53 Very frequent (99-80%)
21 rhizomelia53 Very frequent (99-80%)
22 intellectual disability, severe53 Occasional (29-5%)
23 flat face53 Frequent (79-30%)

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

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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

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Genetic tests related to Rhizomelic Chondrodysplasia Punctata:

id Genetic test Affiliating Genes
1 Rhizomelic Chondrodysplasia Punctata26

Anatomical Context for Rhizomelic Chondrodysplasia Punctata

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MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

35
Bone, Brain, Skin, Eye, Colon, Spinal cord, Heart

Animal Models for Rhizomelic Chondrodysplasia Punctata or affiliated genes

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MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata:

40
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

Publications for Rhizomelic Chondrodysplasia Punctata

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Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. (26220973)
2015
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
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. (25800479)
2015
5
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. (23942406)
2013
6
Rhizomelic chondrodysplasia punctata and cardiac pathology. (23572185)
2013
7
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. (23462609)
2013
8
Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1. (23357221)
2013
9
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. (24049758)
2013
10
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. (23431749)
2012
11
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. (22253471)
2012
12
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. (23716944)
2012
13
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)
2011
14
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. (22692643)
2011
15
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. (20145307)
2010
16
Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. (17950430)
2007
17
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. (15824492)
2005
18
Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. (16225820)
2005
19
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)
2003
20
Natural history of rhizomelic chondrodysplasia punctata. (12687664)
2003
21
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)
2002
22
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. (10227689)
1999
23
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. (10442551)
1999
24
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. (10327148)
1999
25
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383)
1998
26
Molecular basis of rhizomelic chondrodysplasia punctata type I: high frequency of the Leu-292 stop mutation in 38 patients. (9686382)
1998
27
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (9536089)
1998
28
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. (9090383)
1997
29
Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. (8882397)
1996
30
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. (8956940)
1996
31
Rhizomelic chondrodysplasia punctata: early recognition with antenatal ultrasonography. (8006188)
1994
32
Prenatal sonographic diagnosis of non-rhizomelic chondrodysplasia punctata. (8159377)
1994
33
Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. (7991519)
1994
34
Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. (8373640)
1993
35
Rhizomelic Chondrodysplasia Punctata Type 1 (20301447)
1993
36
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
37
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. (1468458)
1992
38
Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata. (1409157)
1992
39
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data. (1750197)
1991
40
Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts. (1677591)
1991
41
Rhizomelic chondrodysplasia punctata: biochemical studies of peroxisomes isolated from cultured skin fibroblasts. (1680308)
1991
42
Cranial MR imaging in rhizomelic chondrodysplasia punctata. (1902045)
1991
43
Balanced pericentric inversion 8(p23q13) in a child with rhizomelic chondrodysplasia punctata and his mother. (1773541)
1991
44
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. (2208770)
1990
45
Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester. (2122105)
1990
46
Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata. (2181395)
1990
47
Prenatal diagnosis of rhizomelic chondrodysplasia punctata. (3205862)
1988
48
Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients. (3171792)
1988
49
More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2427949)
1986
50
Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2419755)
1986

Variations for Rhizomelic Chondrodysplasia Punctata

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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

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

Pathways for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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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

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

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:00057789.0AGPS, GNPAT, PEX5
2peroxisomal matrixGO:00057828.8AGPS, 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
1peroxisome organizationGO:000703110.2PEX5, PEX7
2protein import into peroxisome membraneGO:004504610.0PEX26, PEX5
3neuron migrationGO:00017649.8PEX5, PEX7
4ether lipid biosynthetic processGO:00086119.7AGPS, GNPAT, PEX7
5protein import into peroxisome matrixGO:00165589.6PEX26, PEX5, PEX7
6fatty acid beta-oxidationGO:00066358.8HADHB, PEX5, PEX7

Sources for Rhizomelic Chondrodysplasia Punctata

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet