MCID: RHZ001
MIFTS: 45

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:
10Disease Ontology, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 47Novoseek, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Rhizomelic Chondrodysplasia Punctata:

Name: Rhizomelic Chondrodysplasia Punctata 10 23 12 51
Chondrodysplasia Punctata, Rhizomelic 23 36 65
Chondrodysplasia Punctata Rhizomelic 47 24
 
Rcdp 23 51
Rcp 23

Characteristics:

Orphanet epidemiological data:

51
rhizomelic chondrodysplasia punctata:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:2580
ICD1027 E71.540
MeSH36 D018902
NCIt42 C85047
SNOMED-CT59 56692003
Orphanet51 177
ICD10 via Orphanet28 Q77.3
MESH via Orphanet37 D018902
UMLS via Orphanet66 C0282529
UMLS65 C0282529

Summaries for Rhizomelic Chondrodysplasia Punctata

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Disease Ontology:10 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 disorders and peroxisome biogenesis disorder 9b, 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 triacylglycerol biosynthesis and Peroxisomal lipid metabolism. Affiliated tissues include bone, brain and skin, and related mouse phenotypes are liver/biliary system and reproductive system.

Genetics Home Reference:23 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:68 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 42)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome disorders30.4PEX5, PEX7
2peroxisome biogenesis disorder 9b29.5HADHB, PEX5, PEX7
3chondrodysplasia punctata27.5AGPS, GNPAT, HADHB, MVK, PEX26, PEX5
4rhizomelic chondrodysplasia punctata spectrum12.2
5chondrodysplasia punctata, rhizomelic, type 112.1
6chondrodysplasia punctata, rhizomelic, type 312.1
7chondrodysplasia punctata, rhizomelic, type 212.0
8robin sequence with cleft mandible and limb anomalies11.0
9zellweger syndrome10.5
10peroxisome biogenesis disorder 1a10.4
11refsum disease10.3
12cervicitis10.3
13peroxisome biogenesis disorder 6a10.2
14peroxisome biogenesis disorder 13a10.2
15peroxisome biogenesis disorder 12a10.2
16peroxisome biogenesis disorder 11a10.2
17peroxisome biogenesis disorder 4a10.2
18peroxisome biogenesis disorder 10a10.2
19peroxisome biogenesis disorder 5a10.2
20peroxisomal fatty acyl-coa reductase 1 disorder10.2
21peroxisome biogenesis disorder 8a,10.2
22peroxisome biogenesis disorder 2a10.2
23peroxisome biogenesis disorder 3a10.2
24peroxisome biogenesis disorder 7a10.2
25adrenoleukodystrophy10.2
26cataract10.2
27hepatitis10.2
28neonatal respiratory failure10.2
29respiratory failure10.2
30neuronitis10.2
31peroxisomal biogenesis disorders10.2
32breast cancer10.0
33phosphorylase kinase deficiency9.5PEX26, PEX5
34growth hormone deficiency, isolated, type ia9.4PEX5, PEX7
35zerres rietschel majewski syndrome9.4PEX26, PEX5, PEX7
36neonatal herpes9.3PEX26, PEX5, PEX7
37mental retardation, x-linked, fraxe type9.0HADHB, PEX26, PEX5
38pityriasis versicolor8.8GNPAT, HADHB, MVK, PEX5
39heimler syndrome 18.6GNPAT, PEX26, PEX5, PEX7, PHYH
40agammaglobulinemia8.2AGPS, GNPAT, PEX26, PEX5, PEX7, PHYH
41persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly8.1AGPS, GNPAT, HADHB, PEX5, PEX7, PHYH
42immunodeficiency 41 with lymphoproliferation and autoimmunity8.0GNPAT, 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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Symptoms:

 51 (show all 20)
  • microcephaly
  • cataract/lens opacification
  • epicanthic folds
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • scoliosis
  • rhizomelic micromelia
  • dry/squaly skin/exfoliation
  • ichthyosis/ichthyosiform dermatitis
  • decreased body hair/axillar/pubic hairlessness
  • metaphyseal anomaly
  • epiphyseal anomaly
  • punctate epiphyses/epiphysis
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • flat face
  • spina bifida occulta
  • restricted joint mobility/joint stiffness/ankylosis
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • intellectual deficit/mental/psychomotor retardation/learning disability

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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Anatomical Context for Rhizomelic Chondrodysplasia Punctata

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MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

33
Bone, Brain, Skin, Lung, Eye, Breast, Endothelial

Animal Models for Rhizomelic Chondrodysplasia Punctata or affiliated genes

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MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7HADHB, PEX5, PEX7, PHYH
2MP:00053898.3AGPS, GNPAT, PEX5, PEX7, PHYH
3MP:00053766.9AGPS, 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 81)
idTitleAuthorsYear
1
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. (25800479)
2015
2
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. (26220973)
2015
3
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and SjAPgren-Larsson syndrome. (25432520)
2015
4
Congenital heart defects common in rhizomelic chondrodysplasia punctata. (26408048)
2015
5
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. (24849933)
2014
6
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. (24049758)
2013
7
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. (23942406)
2013
8
Rhizomelic chondrodysplasia punctata and cardiac pathology. (23572185)
2013
9
The neurology of rhizomelic chondrodysplasia punctata. (24172221)
2013
10
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. (23716944)
2012
11
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)
2011
12
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. (22692643)
2011
13
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. (20014169)
2010
14
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. (20145307)
2010
15
Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. (17950430)
2007
16
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. (15824492)
2005
17
Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. (16225820)
2005
18
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)
2003
19
Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. (12620550)
2003
20
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)
2002
21
Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. (11170096)
2001
22
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). (10972423)
2000
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
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. (10227689)
1999
26
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (9536089)
1998
27
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383)
1998
28
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. (9090382)
1997
29
Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. (9039662)
1997
30
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)
1997
31
Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. (8882397)
1996
32
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. (8956940)
1996
33
Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. (7991519)
1994
34
Rhizomelic chondrodysplasia punctata: early recognition with antenatal ultrasonography. (8006188)
1994
35
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
36
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. (8466247)
1993
37
Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. (8373640)
1993
38
Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata. (8295403)
1993
39
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. (1468458)
1992
40
Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata. (1409157)
1992
41
Rhizomelic chondrodysplasia punctata--a new clinical variant. (1293391)
1992
42
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data. (1750197)
1991
43
Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts. (1677591)
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
Prenatal diagnosis of rhizomelic chondrodysplasia punctata. (3205862)
1988
47
Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients. (3171792)
1988
48
More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2427949)
1986
49
Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. (4010717)
1985
50

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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GO Terms for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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

idNameGO IDScoreTop Affiliating Genes
1glycerophospholipid biosynthetic processGO:00464749.7GNPAT, HADHB
2neuron migrationGO:00017649.7PEX5, PEX7
3cellular lipid metabolic processGO:00442559.6AGPS, GNPAT

Molecular functions related to Rhizomelic Chondrodysplasia Punctata according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:00080229.3PEX26, PEX5

Sources for Rhizomelic Chondrodysplasia Punctata

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet