MCID: RHZ001
MIFTS: 48

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 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 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 top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome biogenesis disorder 9b30.4HADHB, PEX5, PEX7
2rhizomelic chondrodysplasia punctata spectrum12.6
3chondrodysplasia punctata, rhizomelic, type 112.5
4chondrodysplasia punctata, rhizomelic, type 312.5
5chondrodysplasia punctata, rhizomelic, type 212.4
6robin sequence with cleft mandible and limb anomalies11.4
7peroxisome biogenesis disorder 1a10.8
8peroxisome biogenesis disorder 6a10.6
9peroxisome biogenesis disorder 13a10.6
10peroxisome biogenesis disorder 12a10.6
11peroxisome biogenesis disorder 11a10.6
12peroxisome biogenesis disorder 4a10.6
13peroxisome biogenesis disorder 10a10.6
14peroxisome biogenesis disorder 5a10.6
15peroxisomal fatty acyl-coa reductase 1 disorder10.6
16peroxisome biogenesis disorder 8a,10.6
17peroxisome biogenesis disorder 2a10.6
18peroxisome biogenesis disorder 3a10.6
19peroxisome biogenesis disorder 7a10.6
20leukemia10.6
21fanconi syndrome10.6
22myopathy10.6
23rheumatoid arthritis10.4
24colorectal cancer10.4
25pulmonary alveolar microlithiasis10.4
26osteoporosis10.4
27oculopharyngeal muscular dystrophy10.4
28aneurysmal bone cysts10.4
29nasopharyngeal carcinoma10.4
30combined factor v and viii deficiency10.4
31alcoholic hepatitis10.4
32arthritis10.4
33brain injury10.4
34hepatitis10.4
35liver disease10.4
36ulcerative colitis10.4
37tick-borne encephalitis10.4
38abdominal tuberculosis10.4
39autism spectrum disorder10.4
40lymphoma10.4
41colitis10.4
42left ventricular noncompaction10.4
43sensorineural hearing loss10.4
44byssinosis10.4
45lymphoblastic leukemia10.4
46nasopharyngitis10.4
47leukodystrophy10.4
48portal hypertension10.4
49urticaria pigmentosa10.4
50sjogren's syndrome10.4

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, Prostate, 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 79)
idTitleAuthorsYear
1
Bedside to Bench Well Illustrated in Myopia. (26501731)
2015
2
Notch pathway targets proangiogenic regulator Sox17 to restrict angiogenesis. (24755984)
2014
3
The optimal duration of adjuvant endocrine therapy for early stage breast cancer--with what drugs and for how long? (24390724)
2014
4
RhoGAPs attenuate cell proliferation by direct interaction with p53 tetramerization domain. (23684608)
2013
5
Preventing pancreatitis after endoscopic retrograde cholangiopancreatography. (24079789)
2013
6
Recent advances in the noninvasive diagnosis of renal osteodystrophy. (23802194)
2013
7
Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population. (23118445)
2012
8
Mechanism of repeat-associated microRNAs in fragile X syndrome. (22779005)
2012
9
Etifoxine-induced acute hepatitis: a case series. (22633197)
2012
10
Cargo recognition mechanism of myosin X revealed by the structure of its tail MyTH4-FERM tandem in complex with the DCC P3 domain. (21321230)
2011
11
Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis. (21908873)
2011
12
Nicotine enhances migration and invasion of human esophageal squamous carcinoma cells which is inhibited by nimesulide. (19469000)
2009
13
Immediate and long-term effects of glucomannan on total ghrelin and leptin in type 2 diabetes mellitus. (19108925)
2009
14
Pleomorphic carcinoma with osteoclastic giant cells of the breast: immunohistochemical differentiation between coexisting neoplastic and reactive giant cells. (19154262)
2009
15
Proliferation hemangiomas formation through dual mechanism of vascular endothelial growth factor mediated endothelial progenitor cells proliferation and mobilization through matrix metalloproteinases 9. (17888584)
2008
16
Platelet-activating factor induces ovine fetal pulmonary venous smooth muscle cell proliferation: role of epidermal growth factor receptor transactivation. (17322418)
2007
17
Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia I ultrastructure. (17538848)
2007
18
Human Mcm10 regulates the catalytic subunit of DNA polymerase-alpha and prevents DNA damage during replication. (17699597)
2007
19
Central retinal artery occlusion associated with traumatic carotid cavernous fistula: case report. (18157317)
2007
20
Altered extracellular matrix transcript expression and protein modulation in primary Duchenne muscular dystrophy myotubes. (17662584)
2007
21
Heart failure: erythropoietin in treatment of anemia]. (17785241)
2007
22
G-protein-coupled OX1 orexin/hcrtr-1 hypocretin receptors induce caspase-dependent and -independent cell death through p38 mitogen-/stress-activated protein kinase. (16282319)
2006
23
Potential mechanism of resistance to TRAIL-induced apoptosis in Burkitt's lymphoma. (16343273)
2006
24
Androgen receptor as a licensing factor for DNA replication in androgen-sensitive prostate cancer cells. (17015840)
2006
25
Cerebral amyloid angiopathy--a disease or age-related condition. (17180835)
2006
26
Mechanism of inactivation of inducible nitric oxide synthase by amidines. Irreversible enzyme inactivation without inactivator modification. (15656623)
2005
27
Interleukin-21: a modulator of lymphoid proliferation, apoptosis and differentiation. (16138102)
2005
28
Proteome analysis in the clinical chemistry laboratory: myth or reality? (15970281)
2005
29
c-Jun NH2-terminal kinase pathway is involved in constitutive matrix metalloproteinase-1 expression in a hepatocellular carcinoma-derived cell line. (15027120)
2004
30
Serum adiponectin in young adults--interactions with central adiposity, circulating levels of glucose, and insulin resistance: the CARDIA study. (15301786)
2004
31
Suppression of P-glycoprotein gene expression in Hs578T/Dox by the overexpression of caveolin-1. (15498565)
2004
32
The myosin cardiac loop participates functionally in the actomyosin interaction. (15020589)
2004
33
Alveolar echinococcosis in a patient without hepatic disturbance and with unusual humoral immune response. (15480881)
2004
34
Characterization of the mouse gene for the U-box-type ubiquitin ligase UFD2a. (12504083)
2003
35
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. (12925875)
2003
36
Sensitivity of electrospray ionization mass spectrometry detection of codon 249 mutations in the p53 gene compared with RFLP. (12376521)
2002
37
Bruxism is mainly regulated centrally, not peripherally. (11874505)
2001
38
Characterization of a novel sphingosine 1-phosphate receptor, Edg-8. (10799507)
2000
39
Retinoic acid switches differential expression of FGF8 isoforms in LNCaP cells. (10872810)
2000
40
Effect of prostaglandin E(2) on the proliferation, Ca(2+) mobilization and cAMP in HT-29 human colon adenocarcinoma cells. (10773415)
2000
41
Hematometra and sudden death after status epilepticus in the adolescent female with Fryns syndrome. (10546108)
1999
42
3,4-Diaminopyridine, an orphan drug, in the symptomatic treatment of Lambert-Eaton myasthenic syndrome. (8739381)
1996
43
Human and mouse dopamine transporter genes: conservation of 5'- flanking sequence elements and gene structures. (7637582)
1995
44
Survival and prognostic indicators in hepatitis B surface antigen-positive cirrhosis of the liver. (1426884)
1992
45
Primary cutaneous mucoepidermoid carcinoma: report of a case. (2022766)
1991
46
A molecular genetic study of factor XI deficiency. (2018835)
1991
47
Non-sulphated cholecystokinin in human medullary thyroid carcinomas. (2332719)
1990
48
An electron microscopic study on macrophages and lymphocytes in lepromatous and borderline leprosy. (3889192)
1985
49
Reactive hyperemia for the clinical diagnosis of subclavian steal syndrome: report of a case. (7245305)
1981
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