MCID: RHZ001
MIFTS: 47

Rhizomelic Chondrodysplasia Punctata malady

Genetic diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

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

Aliases & Descriptions for Rhizomelic Chondrodysplasia Punctata:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology10 DOID:2580
NCIt42 C85047
MeSH36 D018902
Orphanet51 177
SNOMED-CT59 56692003
ICD10 via Orphanet28 Q77.3
MESH via Orphanet37 D018902
UMLS via Orphanet66 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 chondrodysplasia punctata, rhizomelic, type 1 and peroxisome disorders, and has symptoms including abnormality of the teeth, microcephaly and epicanthus. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX7 (Peroxisomal Biogenesis Factor 7), and among its related pathways are Mitochondrial LC-Fatty Acid Beta-Oxidation and fatty acid beta-oxidation (peroxisome). Affiliated tissues include bone, brain and skin, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

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 46)
idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata, rhizomelic, type 131.3HADHB, PEX7, SCP2
2peroxisome disorders30.5PEX12, PEX13, PEX3, PEX5
3refsum disease28.9GNPAT, HADHB, PEX12, PEX13, PEX16, PEX26
4chondrodysplasia punctata11.3
5chondrodysplasia punctata, rhizomelic, type 210.9
6chondrodysplasia punctata, rhizomelic, type 310.9
7zellweger syndrome10.7
8rhizomelic chondrodysplasia punctata spectrum10.6
9peroxisome biogenesis disorder 9b10.5
10peroxisome biogenesis disorder 1a10.5
11cervicitis10.5
12peroxisome biogenesis disorder 6a10.4
13peroxisome biogenesis disorder 13a10.4
14peroxisome biogenesis disorder 12a10.4
15peroxisome biogenesis disorder 11a10.4
16peroxisome biogenesis disorder 4a10.4
17peroxisome biogenesis disorder 10a10.4
18peroxisome biogenesis disorder 5a10.4
19peroxisomal fatty acyl-coa reductase 1 disorder10.4
20peroxisome biogenesis disorder 8a,10.4
21peroxisome biogenesis disorder 2a10.4
22peroxisome biogenesis disorder 3a10.4
23peroxisome biogenesis disorder 7a10.4
24adrenoleukodystrophy10.4
25cataract10.4
26hepatitis10.4
27neonatal respiratory failure10.4
28neuronitis10.4
29peroxisomal disease10.4
30respiratory failure10.4
31peroxisomal biogenesis disorders10.4
32breast cancer10.1
33robin sequence with cleft mandible and limb anomalies10.1
34growth hormone deficiency, isolated, type ia10.0PEX5, PEX7
35d-bifunctional protein deficiency10.0HADHB, SCP2
36mental retardation, x-linked, fraxe type9.8HADHB, PEX26, PEX5
37congenital disorder of glycosylation, type iig9.8PEX5, SCP2
38chondroma9.6AGPS, GNPAT, PEX26, PEX5, PEX7, PHYH
39persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly9.6AGPS, GNPAT, HADHB, PEX5, PEX7, PHYH
40gastrointestinal lymphoma9.4PEX12, PEX13, PEX16, PEX3, PEX5
41phosphorylase kinase deficiency9.4PEX12, PEX13, PEX16, PEX26, PEX3, PEX5
42zerres rietschel majewski syndrome9.3PEX12, PEX13, PEX16, PEX26, PEX3, PEX5
43personality disorder9.3GNPAT, PEX12, PEX13, PEX16, PEX26, PEX3
44neonatal herpes9.1PEX12, PEX13, PEX16, PEX26, PEX3, PEX5
45peroxisome biogenesis disorder 1b9.0GNPAT, PEX12, PEX13, PEX16, PEX26, PEX3
46glottis neoplasm8.3AGPS, GNPAT, HADHB, MVK, PEX12, PEX13

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, 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.2AGPS, GNPAT, PEX3, PEX5, PEX7, PHYH
2MP:00053798.0AGPS, GNPAT, PEX13, PEX3, PEX5, PEX7
3MP:00053707.9HADHB, PEX13, PEX5, PEX7, PHYH, SCP2
4MP:00053767.4AGPS, GNPAT, HADHB, PEX3, PEX5, PEX7

Publications for Rhizomelic Chondrodysplasia Punctata

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Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50)    (show all 78)
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
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. (23462609)
2013
11
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. (23716944)
2012
12
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)
2011
13
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. (22692643)
2011
14
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. (20014169)
2010
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
Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. (12620550)
2003
21
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)
2002
22
Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. (11170096)
2001
23
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). (10972423)
2000
24
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. (10442551)
1999
25
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. (10327148)
1999
26
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. (10227689)
1999
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
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383)
1998
29
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. (9090382)
1997
30
Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. (9039662)
1997
31
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)
1997
32
Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. (8882397)
1996
33
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. (8956940)
1996
34
Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. (7991519)
1994
35
Rhizomelic chondrodysplasia punctata: early recognition with antenatal ultrasonography. (8006188)
1994
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
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. (8466247)
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: biochemical studies of peroxisomes isolated from cultured skin fibroblasts. (1680308)
1991
45
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. (2208770)
1990
46
Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester. (2122105)
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
Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. (4010717)
1985

Variations for Rhizomelic Chondrodysplasia Punctata

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Clinvar genetic disease variations for Rhizomelic Chondrodysplasia Punctata:

5 (show all 22)
id Gene Variation Type Significance SNP ID Assembly Location
1PEX7NM_000288.3(PEX7): c.400G> A (p.Asp134Asn)single nucleotide variantLikely pathogenicrs764346452GRCh37Chr 6, 137166813: 137166813
2PEX7NM_000288.3(PEX7): c.74C> T (p.Ser25Phe)single nucleotide variantLikely pathogenicrs61753236GRCh37Chr 6, 137143877: 137143877
3PEX7NM_000288.3(PEX7): c.188+1G> Csingle nucleotide variantPathogenicrs267608254GRCh37Chr 6, 137146410: 137146410
4PEX7NM_000288.3(PEX7): c.618G> A (p.Trp206Ter)single nucleotide variantLikely pathogenicrs61753245GRCh37Chr 6, 137187856: 137187856
5GNPATNM_014236.3(GNPAT): c.1556A> G (p.Asp519Gly)single nucleotide variantPathogenicrs11558492GRCh37Chr 1, 231408091: 231408091
6GNPATGNPAT, IVS9AS, T-G, -3single nucleotide variantPathogenic
7GNPATGNPAT, 2-BP DEL, 1429ATdeletionPathogenic
8GNPATGNPAT, IVS14DS, G-A, +5single nucleotide variantPathogenic
9AGPSNM_003659.3(AGPS): c.1703C> T (p.Thr568Met)single nucleotide variantPathogenicrs387907214GRCh37Chr 2, 178386002: 178386002
10PEX7NM_000288.3(PEX7): c.854A> G (p.His285Arg)single nucleotide variantPathogenicrs62653611GRCh37Chr 6, 137219330: 137219330
11AGPSNM_003659.3(AGPS): c.1256G> A (p.Arg419His)single nucleotide variantPathogenicrs121434411GRCh37Chr 2, 178357898: 178357898
12AGPSNM_003659.3(AGPS): c.926C> T (p.Thr309Ile)single nucleotide variantPathogenicrs121434412GRCh37Chr 2, 178326676: 178326676
13AGPSNM_003659.3(AGPS): c.1406T> C (p.Leu469Pro)single nucleotide variantPathogenicrs121434413GRCh37Chr 2, 178364389: 178364389
14GNPATNM_014236.3(GNPAT): c.632G> A (p.Arg211His)single nucleotide variantPathogenicrs121434439GRCh37Chr 1, 231401102: 231401102
15GNPATNM_014236.3(GNPAT): c.631C> T (p.Arg211Cys)single nucleotide variantPathogenicrs121434440GRCh37Chr 1, 231401101: 231401101
16GNPATGNPAT, 2-BP INS, 848TTinsertionPathogenic
17GNPATGNPAT, 1-BP DEL, NT780deletionPathogenic
18GNPATGNPAT, 1-BP DEL, NT1575deletionPathogenic
19PEX7NM_000288.3(PEX7): c.875T> A (p.Leu292Ter)single nucleotide variantPathogenicrs1805137GRCh37Chr 6, 137219351: 137219351
20PEX7NM_000288.3(PEX7): c.649G> A (p.Gly217Arg)single nucleotide variantPathogenicrs121909152GRCh37Chr 6, 137191043: 137191043
21PEX7NM_000288.3(PEX7): c.694C> T (p.Arg232Ter)single nucleotide variantPathogenicrs121909153GRCh37Chr 6, 137191088: 137191088
22PEX7NM_000288.3(PEX7): c.903+1G> Csingle nucleotide variantPathogenicrs148591292GRCh37Chr 6, 137219380: 137219380

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

idNameGO IDScoreTop Affiliating Genes
1peroxisomal matrixGO:00057828.8AGPS, GNPAT, PEX5, PEX7, PHYH, SCP2
2integral component of peroxisomal membraneGO:00057798.4PEX12, PEX13, PEX16, PEX26, PEX3
3mitochondrionGO:00057398.3AGPS, GNPAT, HADHB, PEX5, PHYH, SCP2
4intracellular membrane-bounded organelleGO:00432317.9AGPS, PEX13, PEX3, SCP2
5peroxisomal membraneGO:00057787.5AGPS, GNPAT, PEX12, PEX13, PEX16, PEX3
6peroxisomeGO:00057775.6AGPS, GNPAT, MVK, PEX12, PEX13, PEX16

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1ether lipid biosynthetic processGO:000861110.4AGPS, GNPAT, PEX7
2peroxisome membrane biogenesisGO:001655710.1PEX16, PEX3
3fatty acid beta-oxidationGO:000663510.0HADHB, PEX5, PEX7
4protein import into peroxisome matrix, dockingGO:001656010.0PEX13, PEX5
5cerebral cortex cell migrationGO:00217959.9PEX13, PEX5
6fatty acid alpha-oxidationGO:00015619.9PEX13, PHYH
7neuron migrationGO:00017649.5PEX13, PEX5, PEX7
8protein targeting to peroxisomeGO:00066259.4PEX12, PEX16, PEX5, PEX7
9protein import into peroxisome membraneGO:00450469.4PEX16, PEX26, PEX3, PEX5
10protein import into peroxisome matrixGO:00165589.1PEX12, PEX16, PEX26, PEX5, PEX7
11cellular lipid metabolic processGO:00442558.6AGPS, GNPAT, HADHB, PEX5, PHYH, SCP2
12peroxisome organizationGO:00070318.3PEX12, PEX16, PEX3, PEX5, PEX7, SCP2
13small molecule metabolic processGO:00442818.3AGPS, GNPAT, HADHB, MVK, PHYH, SCP2

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

idNameGO IDScoreTop Affiliating Genes
1transferase activity, transferring acyl groups other than amino-acyl groupsGO:00167479.9HADHB, SCP2
2protein C-terminus bindingGO:00080228.8PEX12, PEX16, PEX26, PEX5
3catalytic activityGO:00038248.4AGPS, GNPAT, HADHB, PHYH, SCP2

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