MCID: RHZ001
MIFTS: 47

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, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Rhizomelic Chondrodysplasia Punctata:

Name: Rhizomelic Chondrodysplasia Punctata 11 24 13 52
Chondrodysplasia Punctata, Rhizomelic 24 25 37 66
Rcdp 24 52
 
Chondrodysplasia Punctata Rhizomelic 48
Rcp 24

Characteristics:

Orphanet epidemiological data:

52
rhizomelic chondrodysplasia punctata:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology11 DOID:2580
ICD1028 E71.540
MeSH37 D018902
NCIt43 C85047
SNOMED-CT60 56692003
Orphanet52 ORPHA177
ICD10 via Orphanet29 Q77.3
MESH via Orphanet38 D018902
UMLS via Orphanet67 C0282529

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 spectrum, 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: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:69 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

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome biogenesis disorder 9b30.2PEX5, PEX7, SCP2
2rhizomelic chondrodysplasia punctata spectrum12.3
3chondrodysplasia punctata, rhizomelic, type 112.1
4chondrodysplasia punctata, rhizomelic, type 312.1
5chondrodysplasia punctata, rhizomelic, type 212.1
6robin sequence with cleft mandible and limb anomalies11.0
7zellweger syndrome10.5
8peroxisome disorders10.5
9peroxisome biogenesis disorder 1a10.4
10refsum disease10.4
11cervicitis10.4
12peroxisome biogenesis disorder 6a10.2
13peroxisome biogenesis disorder 13a10.2
14peroxisome biogenesis disorder 12a10.2
15peroxisome biogenesis disorder 11a10.2
16peroxisome biogenesis disorder 4a10.2
17peroxisome biogenesis disorder 10a10.2
18peroxisome biogenesis disorder 5a10.2
19peroxisomal fatty acyl-coa reductase 1 disorder10.2
20peroxisome biogenesis disorder 8a,10.2
21peroxisome biogenesis disorder 2a10.2
22peroxisome biogenesis disorder 3a10.2
23peroxisome biogenesis disorder 7a10.2
24adrenoleukodystrophy10.2
25cataract10.2
26hepatitis10.2
27neonatal respiratory failure10.2
28respiratory failure10.2
29neuronitis10.2
30peroxisomal biogenesis disorders10.2
31breast cancer10.0
32metaphyseal dysplasia, braun-tinschert type9.8GNPAT, PEX5, PEX7
33mental retardation, autosomal recessive 449.8PEX5, SCP2
34deafness, dystonia, and cerebral hypomyelination9.8PEX26, PEX5
35growth hormone deficiency, isolated, type ii9.8PEX5, PEX7
36ritter's disease9.3GNPAT, PEX16, PEX5
37polycystic kidney disease, autosomal dominant9.1PEX16, PEX26, PEX5
38peroxisomal disease9.0PEX16, PEX26, PEX5
39pepck 2 deficiency8.9PEX16, PEX26, PEX5, PEX7
40granulosa cell tumor of the ovary8.8PEX16, PEX26, PEX5, PEX7
41heimler syndrome 18.0GNPAT, PEX16, PEX26, PEX5, PEX7, PHYH
42immunodeficiency 41 with lymphoproliferation and autoimmunity7.5GNPAT, PEX16, PEX26, PEX5, PEX7, PHYH
43larynx cancer7.1AGPS, GNPAT, PEX16, PEX26, PEX5, PEX7

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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Symptoms:

 52 (show all 20)
  • abnormality of the teeth
  • microcephaly
  • epicanthus
  • cataract
  • abnormality of the metaphyses
  • dry skin
  • limitation of joint mobility
  • growth delay
  • alopecia
  • sparse body hair
  • scoliosis
  • spina bifida occulta
  • short stature
  • abnormality of epiphysis morphology
  • ichthyosis
  • rhizomelia
  • limb undergrowth
  • epiphyseal stippling
  • intellectual disability, severe
  • flat face

HPO human phenotypes related to Rhizomelic Chondrodysplasia Punctata:

(show all 17)
id Description Frequency HPO Source Accession
1 abnormality of the teeth hallmark (90%) HP:0000164
2 microcephaly hallmark (90%) HP:0000252
3 epicanthus hallmark (90%) HP:0000286
4 cataract hallmark (90%) HP:0000518
5 abnormality of the metaphyses hallmark (90%) HP:0000944
6 dry skin hallmark (90%) HP:0000958
7 scoliosis hallmark (90%) HP:0002650
8 short stature hallmark (90%) HP:0004322
9 ichthyosis hallmark (90%) HP:0008064
10 limb undergrowth hallmark (90%) HP:0009826
11 epiphyseal stippling hallmark (90%) HP:0010655
12 abnormal hair quantity hallmark (90%) HP:0011362
13 malar flattening typical (50%) HP:0000272
14 limitation of joint mobility typical (50%) HP:0001376
15 spina bifida occulta typical (50%) HP:0003298
16 abnormal hair quantity occasional (7.5%) HP:0011362
17 cognitive impairment occasional (7.5%) HP:0100543

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 Punctata25

Anatomical Context for Rhizomelic Chondrodysplasia Punctata

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MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0PEX5, PEX7, PHYH, SCP2
2MP:00053898.4AGPS, GNPAT, PEX5, PEX7, PHYH
3MP:00053767.2AGPS, GNPAT, PEX26, PEX5, PEX7, PHYH

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

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
8.6AGPS, GNPAT, PHYH, SCP2
26.4AGPS, GNPAT, PEX16, 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
1integral component of peroxisomal membraneGO:00057799.7PEX16, PEX26
2peroxisomal membraneGO:00057788.9AGPS, GNPAT, PEX16, PEX5
3peroxisomal matrixGO:00057828.7AGPS, GNPAT, PEX7, PHYH, SCP2
4membraneGO:00160207.9AGPS, GNPAT, PEX16, PEX5, SCP2
5peroxisomeGO:00057776.8AGPS, GNPAT, PEX16, PEX26, PEX5, PEX7

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidationGO:00066359.9PEX5, PEX7
2neuron migrationGO:00017649.8PEX5, PEX7
3ether lipid biosynthetic processGO:00086119.7AGPS, GNPAT, PEX7
4protein targeting to peroxisomeGO:00066259.7PEX16, PEX7
5protein import into peroxisome membraneGO:00450469.2PEX16, PEX26, PEX5
6peroxisome organizationGO:00070318.9PEX16, PEX5, PEX7, SCP2
7protein import into peroxisome matrixGO:00165588.8PEX16, PEX26, PEX5, PEX7

Sources for Rhizomelic Chondrodysplasia Punctata

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet