MCID: PNT019
MIFTS: 39

Pontocerebellar Hypoplasia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Metabolic diseases, Eye diseases, Muscle diseases

Aliases & Classifications for Pontocerebellar Hypoplasia

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Aliases & Descriptions for Pontocerebellar Hypoplasia:

Name: Pontocerebellar Hypoplasia 10 45 22 23 12 36
Pch 10 23
Congenital Pontocerebellar Hypoplasia 23
 
Pontoneocerebellar Hypoplasia 65
Opch 23

Classifications:



External Ids:

Disease Ontology10 DOID:0060264
SNOMED-CT59 45163000
MeSH36 C580383
UMLS65 C0266468, C1261175

Summaries for Pontocerebellar Hypoplasia

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NIH Rare Diseases:45 Pontocerebellar hypoplasia (pch) is a group of conditions affecting the brain characterized by underdevelopment of the cerebellum and pons. the cerebellum normally coordinates movement and the pons (located in the brainstem) transmits signals from the cerebellum to the rest of the brain. several forms of pch have been described, each having some different signs and symptoms but all characterized by problems with movement, delayed psychomotor development, and intellectual disability. although each form has a different genetic cause, they are all inherited in an autosomal recessive manner. many children with pch live only into infancy or childhood, although some individuals have lived into adulthood. treatment is symptomatic and supportive. last updated: 12/18/2012

MalaCards based summary: Pontocerebellar Hypoplasia, also known as pch, is related to pontocerebellar hypoplasia type 7 and pontocerebellar hypoplasia, type 2e. An important gene associated with Pontocerebellar Hypoplasia is TSEN54 (TRNA Splicing Endonuclease Subunit 54), and among its related pathways are PERK regulates gene expression and tRNA processing. Affiliated tissues include cerebellum, brain and pons.

Genetics Home Reference:23 Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions.

Wikipedia:68 Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by... more...

Related Diseases for Pontocerebellar Hypoplasia

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Diseases in the Pontocerebellar Hypoplasia family:

Pontocerebellar Hypoplasia, Type 9 Pontocerebellar Hypoplasia Type 2b
Pontocerebellar Hypoplasia Type 2d Pontocerebellar Hypoplasia, Type 6
Pontocerebellar Hypoplasia, Type 3 Pontocerebellar Hypoplasia, Type 1b
Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 1c
Pontocerebellar Hypoplasia Type 1a Pontocerebellar Hypoplasia, Type 8
Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia Type 2a
Pontocerebellar Hypoplasia Type 4 Pontocerebellar Hypoplasia Type 5
Pontocerebellar Hypoplasia Type 2c Pontocerebellar Hypoplasia Type 7
Exosc3-Related Pontocerebellar Hypoplasia Tsen54-Related Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 1 Tsen2-Related Pontocerebellar Hypoplasia
Tsen34-Related Pontocerebellar Hypoplasia

Diseases related to Pontocerebellar Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1pontocerebellar hypoplasia type 729.7AMPD2, CLP1, EXOSC3, EXOSC8, PCLO, RARS2
2pontocerebellar hypoplasia, type 2e12.8
3pontocerebellar hypoplasia type 412.8
4pontocerebellar hypoplasia, type 612.7
5pontocerebellar hypoplasia, type 312.7
6pontocerebellar hypoplasia type 512.7
7pontocerebellar hypoplasia type 2a12.7
8pontocerebellar hypoplasia, type 812.7
9pontocerebellar hypoplasia type 1a12.7
10pontocerebellar hypoplasia type 2d12.7
11pontocerebellar hypoplasia, type 1012.7
12pontocerebellar hypoplasia type 2b12.7
13pontocerebellar hypoplasia, type 1b12.7
14pontocerebellar hypoplasia type 2c12.7
15pontocerebellar hypoplasia, type 912.7
16pontocerebellar hypoplasia type 112.7
17pontocerebellar hypoplasia, type 1c12.6
18exosc3-related pontocerebellar hypoplasia12.4
19tsen54-related pontocerebellar hypoplasia12.4
20microcephaly pontocerebellar hypoplasia dyskinesia12.4
21tsen2-related pontocerebellar hypoplasia12.4
22tsen34-related pontocerebellar hypoplasia12.4
23cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation12.4
24x-linked intellectual disability, najm type11.6
25mental retardation and microcephaly with pontine and cerebellar hypoplasia10.5
26endotheliitis10.5
27breast cancer10.4
28atherosclerosis10.4
29leukemia10.4
30prostatitis10.4
31adenocarcinoma10.4
32gingivitis10.4
33herpes simplex10.4
34systemic lupus erythematosus10.2
35prostate cancer10.2
36coronary artery disease10.2
37cystic fibrosis10.2
38angina pectoris10.2
39craniosynostosis10.2
40critical limb ischemia10.2
41hepatitis10.2
42liver disease10.2
43lymphedema10.2
44sinusitis10.2
45artery disease10.2
46limb ischemia10.2
47oral squamous cell carcinoma10.2
48ameloblastoma10.2
49parotitis10.2
50lymphoblastic leukemia10.2

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia:



Diseases related to pontocerebellar hypoplasia

Symptoms for Pontocerebellar Hypoplasia

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Drugs & Therapeutics for Pontocerebellar Hypoplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pontocerebellar Hypoplasia


Cochrane evidence based reviews: pontocerebellar hypoplasia

Genetic Tests for Pontocerebellar Hypoplasia

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Genetic tests related to Pontocerebellar Hypoplasia:

id Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia22 TSEN54

Anatomical Context for Pontocerebellar Hypoplasia

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MalaCards organs/tissues related to Pontocerebellar Hypoplasia:

33
Cerebellum, Brain, Pons, Ovary, Endothelial, Pancreatic islet, Pineal

Animal Models for Pontocerebellar Hypoplasia or affiliated genes

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Publications for Pontocerebellar Hypoplasia

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Articles related to Pontocerebellar Hypoplasia:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
Pulmonary cryptosporidiosis in an immunocompetent host treated successfully with nitazoxanide. (26933311)
2016
2
Eosinophilic Esophagitis: A New Possible Comorbidity in Difficult-to-Control Asthma? (27164640)
2016
3
Functional Impact of Collagens on the Activity Directed by the Promoter of the I+5 Integrin Subunit Gene in Corneal Epithelial Cells. (26431475)
2015
4
Two nonsense mutations cause protein C deficiency by nonsense-mediated mRNA decay. (25648792)
2015
5
Investigating the impact of Asp181 point mutations on interactions between PTP1B and phosphotyrosine substrate. (24865376)
2014
6
Low Serum Cartonectin/CTRP3 Concentrations in Newly Diagnosed Type 2 Diabetes Mellitus: In Vivo Regulation of Cartonectin by Glucose. (25409499)
2014
7
Hajdu-Cheney syndrome: a case report with review of literature. (25426244)
2014
8
Human papillomavirus genotypes and cervical cancer in northeast Thailand. (24377633)
2013
9
Negative BOLD response to interictal epileptic discharges in focal epilepsy. (23793553)
2013
10
RNAi screening identifies mediators of NOD2 signaling: implications for spatial specificity of MDP recognition. (23213202)
2012
11
Pharmacotherapy: Somatoprim versus octreotide in acromegaly. (22124440)
2012
12
Rapid aquaporin translocation regulates cellular water flow: mechanism of hypotonicity-induced subcellular localization of aquaporin 1 water channel. (22334691)
2012
13
Outcome following management of dysphagia after laparoscopic anti-reflux surgery. (22302282)
2012
14
Impact of extrahepatic complications (diabetes and glomerulonephritis) associated with hepatitis C virus infection after renal transplantation. (22310786)
2012
15
GROI+ regulates human embryonic stem cell self-renewal or adoption of a neuronal fate. (21396766)
2011
16
Radiofrequency-induced heat therapy as first-line treatment for cutaneous leishmaniasis. (21692665)
2011
17
Transient dyslipidemia mimicking the plasma lipid profile of Tangier disease in a diabetic patient with gram negative sepsis. (21844573)
2011
18
Cytotoxic and PTP1B inhibitory activities from Erythrina abyssinica. (19836230)
2009
19
Resistance to dermcidin-derived peptides is independent of bacterial protease activity. (19201578)
2009
20
Biodegradable urethral stents seeded with autologous urethral epithelial cells in the treatment of post-traumatic urethral stricture: a feasibility study in a rabbit model. (19220257)
2009
21
Synthesis, DNA binding, and cytotoxicity of 1,4-bis(2-amino-ethylamino)anthraquinone-amino acid conjugates. (17962028)
2008
22
CYP2D6 is a major determinant of metoprolol disposition and effects in hospitalized Russian patients treated for acute myocardial infarction. (18648788)
2008
23
A new hormonal therapy for estrogen receptor-negative breast cancer. (17429562)
2007
24
GTPases in semaphorin signaling. (17607943)
2007
25
Localized cutaneous sporotrichosis in a child. (17043206)
2006
26
Psychophysiological correlates of face processing in social phobia. (16970928)
2006
27
XRCC1 protects against particulate chromate-induced chromosome damage and cytotoxicity in Chinese hamster ovary cells. (16714390)
2006
28
Butyrylcholinesterase, paraoxonase, and albumin esterase, but not carboxylesterase, are present in human plasma. (16213467)
2005
29
Synthesis of sulfated phenyl 2-acetamido-2-deoxy-D--D- galactopyranosides. 4-O-Sulfated phenyl 2-acetamido-2-deoxy-beta-D- galactopyranoside is a competitive acceptor that decreases sulfation of chondroitin sulfate by N-acetylgalactosamine 4-sulfate 6-O- sulfotransferase. (16024005)
2005
30
Antisense to transforming growth factor-beta1 messenger RNA reduces vein graft intimal hyperplasia and monocyte chemotactic protein 1. (15838486)
2005
31
Establishment and characterization of new cell lines derived from melanotic neuroectodermal tumor of infancy arising in the mandible. (15943790)
2005
32
Selective inducement effect of bacterial redox protein azurin on apoptosis of human osteosarcoma cell line U2OS]. (15757530)
2005
33
Regulation of YB-1 gene expression by GATA transcription factors. (12646178)
2003
34
Role of the microbiology laboratory in diagnosis and management of pharyngitis. (12904340)
2003
35
The effect of 17beta-estradiol on endothelial and inflammatory markers in postmenopausal women: a randomized, controlled trial. (12417281)
2002
36
Disposition of a specific cyclooxygenase-2 inhibitor, valdecoxib, in human. (12167567)
2002
37
Asymptomatic bacteriuria in institutionalized elders in Israel. (12812530)
2001
38
Comments to a report: eosinophilic gastroenteritis presenting as an obstructing cecal mass: review literature and our own experience. (11151918)
2000
39
Mechanical strain increases velocity and extent of shortening in cultured airway smooth muscle cells. (10444529)
1999
40
Release of prorenin and placental hormones from superfused minced chorion laeve. (9435726)
1997
41
Antley-Bixler syndrome: case report and review of the literature. (9018420)
1997
42
The tetraploidy of Purkinje cells in the cerebellum in reference to the problem of polyploidy. (9151107)
1997
43
The isoforms of proprotein convertase PC5 are sorted to different subcellular compartments. (8947550)
1996
44
Primitive hematopoietic progenitor cells are present in peripheral blood autografts. (7538339)
1994
45
Phase I study of hyperfractionated whole brain irradiation (HWBI) in the treatment of primary cerebral lymphoma. (8347538)
1993
46
Endocrine dysfunction in Kearns-Sayre syndrome. (1424198)
1992
47
Anti-collagen antibodies in granuloma annulare and necrobiosis lipoidica. (3246092)
1988
48
Routes of infection of acute suppurative thyroiditis diagnosed by barium examination. (3716868)
1986
49
Pseudohypoparathyroidism type II and anticonvulsant rickets. (230052)
1979
50
Letter: Laryngeal tuberculosis or tumor. (4419980)
1974

Variations for Pontocerebellar Hypoplasia

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Expression for genes affiliated with Pontocerebellar Hypoplasia

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Search GEO for disease gene expression data for Pontocerebellar Hypoplasia.

Pathways for genes affiliated with Pontocerebellar Hypoplasia

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GO Terms for genes affiliated with Pontocerebellar Hypoplasia

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Biological processes related to Pontocerebellar Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1tRNA-type intron splice site recognition and cleavageGO:000037910.1TSEN2, TSEN34, TSEN54
2RNA phosphodiester bond hydrolysisGO:009050110.1TSEN2, TSEN34, TSEN54
3nuclear polyadenylation-dependent tRNA catabolic processGO:00710389.9EXOSC3, EXOSC8
4exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decayGO:00439289.7EXOSC3, EXOSC8
5gene expressionGO:00104679.6TSEN2, TSEN34, TSEN54
6tRNA splicing, via endonucleolytic cleavage and ligationGO:00063889.6CLP1, TSEN34, TSEN54

Sources for Pontocerebellar Hypoplasia

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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