MCID: OLV001
MIFTS: 47

Olivopontocerebellar Atrophy malady

Categories: Rare diseases, Cardiovascular diseases, Nephrological diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Olivopontocerebellar Atrophy

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Sources:
65UMLS, 10Disease Ontology, 45NIH Rare Diseases, 46NINDS, 12DISEASES, 51Orphanet, 47Novoseek, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Olivopontocerebellar Atrophy:

Name: Olivopontocerebellar Atrophy 10 45 46 12
Olivopontocerebellar Atrophies 47 36 65
Thomas Syndrome 45 51 65
Potter Sequence-Cleft Lip/palate-Cardiopathy Syndrome 51
Spinocerebellar Ataxia Type 2 65
 
Dejerine-Thomas Syndrome 10
Wadia-Swami Syndrome 10
Thomas' Syndrome 10
Opca 45

Characteristics:

Orphanet epidemiological data:

51
thomas syndrome:
Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:14784
MeSH36 D009849
NCIt42 C84947
Orphanet51 3316
SNOMED-CT59 67761004
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C536514
UMLS via Orphanet66 C2931225
UMLS65 C0028968, C0752121, C2931225

Summaries for Olivopontocerebellar Atrophy

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NIH Rare Diseases:45 Olivopontocerebellar atrophy (opca) is a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain. it occurs in several neurodegenerative diseases, including multiple system atrophy (msa) and inherited and non-inherited forms of ataxia. opca may also occur in people with prion disorders and inherited metabolic diseases. the main symptom is clumsiness that slowly gets worse. other symptoms may include problems with balance; speech or swallowing problems; difficulty walking; abnormal eye movements; muscle spasms; and neuropathy. whether opca is inherited (and the inheritance pattern) depends on the underlying cause, if known. there is no cure for opca, and management aims to treat symptoms and prevent complications. last updated: 4/4/2016

MalaCards based summary: Olivopontocerebellar Atrophy, also known as olivopontocerebellar atrophies, is related to spinocerebellar ataxia 7 and olivopontocerebellar atrophy deafness, and has symptoms including multicystic kidney dysplasia, oral cleft and oligohydramnios. An important gene associated with Olivopontocerebellar Atrophy is ATXN2 (Ataxin 2), and among its related pathways are Alpha-synuclein signaling and Parkinsons Disease Pathway. Affiliated tissues include brain, pons and cerebellum, and related mouse phenotypes are reproductive system and growth/size/body region.

Disease Ontology:10 A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has material basis in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.

NINDS:46 Olivopontocerebellar atrophy (OPCA) is a term that describes the degeneration of neurons in specific areas of the brain ? the cerebellum, pons, and inferior olives.

Wikipedia:68 Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain –... more...

Related Diseases for Olivopontocerebellar Atrophy

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Diseases related to Olivopontocerebellar Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 192)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 732.9ATXN2, ATXN7
2olivopontocerebellar atrophy deafness12.5
3spinocerebellar ataxia 112.2
4spinocerebellar ataxia 211.8
5spinocerebellar ataxia, x-linked 111.4
6multiple system atrophy, cerebellar type11.4
7hepatocellular carcinoma10.3
8hepatitis10.3
9colorectal cancer10.2
10prostate cancer10.2
11breast cancer10.2
12leukemia10.2
13prostatitis10.2
14pancreatitis10.2
15neuronitis10.2
16sickle cell disease10.2
17multiple endocrine neoplasia10.2
18aneurysm10.2
19encephalitozoonosis10.2MBP, SLC6A3
20hereditary hemorrhagic telangiectasia10.2ATXN2, ATXN7
21celiac disease 1310.1ATXN2, ATXN7
22melanoma10.1
23schistosoma mansoni infection, susceptibility/10.1ATXN2, ATXN7
24parasitic protozoa infectious disease10.1ATXN2, ATXN7
25okt4 epitope deficiency10.1ATXN2, ATXN7
26subcortical arteriosclerotic encephalopathy10.1ATXN2, RPS27A
27malaria10.1
28paroxysmal nonkinesigenic dyskinesia10.1
29myelodysplastic syndrome10.1
30cherubism10.1
31leprosy10.1
32keratitis10.1
33multiple myeloma10.1
34wilson disease10.1
35neurofibromatosis, type 110.1
36cerebral amyloid angiopathy10.1
37hyperinsulinism-hyperammonemia syndrome10.1
38congenital chloride diarrhea10.1
39deficiency anemia10.1
40peyronie's disease10.1
41atherosclerosis10.1
42gingival recession10.1
43hydrocephalus10.1
44ischemic heart disease10.1
45ischemic optic neuropathy10.1
46myelofibrosis10.1
47pancreatic ductal adenocarcinoma10.1
48pemphigus vulgaris10.1
49skin disease10.1
50spondylolisthesis10.1

Graphical network of the top 20 diseases related to Olivopontocerebellar Atrophy:



Diseases related to olivopontocerebellar atrophy

Symptoms for Olivopontocerebellar Atrophy

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Symptoms:

 51 (show all 12)
  • cleft lip and palate
  • congenital cardiac anomaly/malformation/cardiopathy
  • agenesis/hypoplasia/aplasia of kidneys
  • multicystic kidney/renal dysplasia
  • autosomal recessive inheritance
  • early death/lethality
  • oligoamnios
  • dolichocephaly/scaphocephaly
  • high forehead
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • hypoplastic left heart/ventricle

HPO human phenotypes related to Olivopontocerebellar Atrophy:

(show all 9)
id Description Frequency HPO Source Accession
1 multicystic kidney dysplasia hallmark (90%) HP:0000003
2 oral cleft hallmark (90%) HP:0000202
3 oligohydramnios hallmark (90%) HP:0001562
4 renal hypoplasia/aplasia hallmark (90%) HP:0008678
5 dolichocephaly typical (50%) HP:0000268
6 hypertelorism typical (50%) HP:0000316
7 high forehead typical (50%) HP:0000348
8 downslanted palpebral fissures typical (50%) HP:0000494
9 hypoplastic left heart typical (50%) HP:0004383

Drugs & Therapeutics for Olivopontocerebellar Atrophy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Fipamezole in Neurogenic Orthostatic HypotensionNot yet recruitingNCT00758849Phase 2

Search NIH Clinical Center for Olivopontocerebellar Atrophy


Cochrane evidence based reviews: olivopontocerebellar atrophies

Genetic Tests for Olivopontocerebellar Atrophy

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Anatomical Context for Olivopontocerebellar Atrophy

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MalaCards organs/tissues related to Olivopontocerebellar Atrophy:

33
Brain, Pons, Cerebellum, Eye, Kidney, Heart, Bone marrow

Animal Models for Olivopontocerebellar Atrophy or affiliated genes

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MGI Mouse Phenotypes related to Olivopontocerebellar Atrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.9ATXN2, ATXN7, MAP1B, MAP2, MBP, SLC6A3
2MP:00053787.5ATXN2, ATXN7, GNAI2, MAP1B, MAP2, SLC6A3
3MP:00053867.3ATXN2, ATXN7, GNAI2, MAP1B, MAP2, MBP
4MP:00036317.3ATXN2, ATXN7, GNAI2, MAP1B, MAP2, MBP
5MP:00107687.1ATXN2, ATXN7, GNAI2, MAP1B, MAP2, MBP

Publications for Olivopontocerebellar Atrophy

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Articles related to Olivopontocerebellar Atrophy:

(show top 50)    (show all 182)
idTitleAuthorsYear
1
The Effects of a Home-Based Connective Tissue Targeting Therapy on Hip Development in Children With Cerebral Palsy: Six Case Reports. (27198038)
2016
2
Large anterior orbital cyst as a late complication of chalazion surgical drainage. (25633879)
2015
3
The CHADS2 score is a useful predictor of coronary arteriosclerosis on 320 slice CT and may correlate with prognosis in subjects with atrial fibrillation. (25464421)
2015
4
Parathyroid carcinoma. (24742584)
2014
5
High-throughput screening of effective siRNAs using luciferase-linked chimeric mRNA. (24831610)
2014
6
Adenoid cystic carcinoma in the bronchus behaves more aggressively than its tracheal counterpart. (24094522)
2013
7
Solitary fibrous tumor of the accessory parotid gland: a unique case. (23834136)
2013
8
Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms. (23308388)
2013
9
Single-stage surgical repair of a complex pathology in Williams syndrome. (23394113)
2013
10
Myeloid leukemia cells with a B7-2(+) subpopulation provoke Th-cell responses and become immuno-suppressive through the modulation of B7 ligands. (23175469)
2013
11
A novel screening system for claudin binder using baculoviral display. (21339813)
2011
12
Atypical presentation of Wilson disease. (21901661)
2011
13
Role of Rac1 in regulation of NOX5-S function in Barrett's esophageal adenocarcinoma cells. (21525435)
2011
14
Malignant pancreatic extra-gastrointestinal stromal tumor diagnosed by ultrasound guided fine needle aspiration cytology. A case report with a review of the literature. (21546710)
2011
15
Bowel disturbances are the most important risk factors for late onset fecal incontinence: a population-based case-control study in women. (20708007)
2010
16
A new potential oncogenic mutation in the FERM domain of JAK2 in BCR/ABL1-negative and V617F-negative chronic myeloproliferative neoplasms revealed by a comprehensive screening of 17 tyrosine kinase coding genes. (20417861)
2010
17
Comparison of pneumatic dilation with pneumatic dilation plus botulinum toxin for treatment of achalasia. (21133003)
2010
18
A rare case of proboscis lateralis with median cleft lip. (20509764)
2010
19
Single-session use of mineral trioxide aggregate as an apical barrier in a case of external root resorption. (20587960)
2010
20
The chaperones Hsp90 and Cdc37 mediate the maturation and stabilization of protein kinase C through a conserved PXXP motif in the C-terminal tail. (19091746)
2009
21
Gab2-mediated signaling promotes melanoma metastasis. (19342374)
2009
22
Enhanced expression of the antimicrobial peptide LL-37 in lesional skin of adults with atopic eczema. (19309368)
2009
23
Transcriptional control of pacemaker channel genes HCN2 and HCN4 by Sp1 and implications in re-expression of these genes in hypertrophied myocytes. (19471099)
2009
24
A polymorphism in the zinc transporter gene SLC30A8 confers resistance against posttransplantation diabetes mellitus in renal allograft recipients. (18162509)
2008
25
An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome. (18369450)
2008
26
Persistent monocytosis after intravenous immunoglobulin therapy correlated with the development of coronary artery lesions in patients with Kawasaki disease. (17932598)
2007
27
Reply to the paper by Wiendl et al.: diffusion abnormality in BalA^'s concentric sclerosis: clues for the pathogenesis. (16636562)
2006
28
The effects of cannabinoids on P-glycoprotein transport and expression in multidrug resistant cells. (16458258)
2006
29
Long-term microfluidic cultures of myotube microarrays for high-throughput focal stimulation. (17406389)
2006
30
Mutations of the APC, beta-catenin, and axin 1 genes and cytoplasmic accumulation of beta-catenin in oral squamous cell carcinoma. (16163548)
2005
31
Positive allosteric modulator of the human 5-HT2C receptor. (12815163)
2003
32
Biologic tolerance of prolene prosthesis in inguinal hernia repair]. (14587116)
2003
33
Keratonconjunctivitis sicca is not uncommon in children with juvenile rheumatoid arthritis. (11411961)
2001
34
Auto-activation of the rta gene of human herpesvirus-8/Kaposi's sarcoma-associated herpesvirus. (11086135)
2000
35
Ecthyma secondary to herpes simplex virus infection. (10476767)
1999
36
Breathing patterns in children with craniofacial dysostosis and hindbrain herniation. (9623689)
1998
37
Intercellular communication that mediates formation of the neuromuscular junction. (9294861)
1997
38
Short- and long-term oestradiol treatment inhibits growth and alters expression of p21WAF1/Cip1 in an endometrial adenocarcinoma cell line lacking functional p53. (9470815)
1997
39
Heparin-binding epidermal growth factor-like growth factor regulates fibroblast growth factor-2 expression in aortic smooth muscle cells. (8756003)
1996
40
Oral pyogenic granuloma in pregnancy. (9764875)
1995
41
Expression of sex hormone-binding globulin mRNA in human endometrial cancers. (7779755)
1995
42
The vertebrate linker histones H1 zero, H5, and H1M are descendants of invertebrate "orphon" histone H1 genes. (8587127)
1995
43
Interactions of human nuclear proteins P1Mcm3 and P1Cdc46. (7705359)
1995
44
Western blot analysis of virus-specific antibody responses for capripox and contagious pustular dermatitis viral infections in sheep. (7925674)
1994
45
Soft-tissue chondroma as a cause of calcinosis in a patient with CREST syndrome. (8457459)
1993
46
Metformin ameliorates extreme insulin resistance in a patient with anti-insulin receptor antibodies: description of insulin receptor and postreceptor effects in vivo and in vitro. (1543016)
1992
47
Isolation and characterization of a new mutant human cell line unresponsive to alpha and beta interferons. (1906577)
1991
48
Problems with the measurement of monoamine oxidase A protein concentration in mitochondrial preparations. Revised molecular activities and implications for estimating ratios of MAO A:MAO B molecules from radiochemical assay data. (1741773)
1991
49
Concurrent existence of heterotopic ossification and thrombophlebitis. (2106785)
1990
50

Variations for Olivopontocerebellar Atrophy

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Expression for genes affiliated with Olivopontocerebellar Atrophy

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Search GEO for disease gene expression data for Olivopontocerebellar Atrophy.

Pathways for genes affiliated with Olivopontocerebellar Atrophy

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Pathways related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3SLC6A3, SNCA
29.0ATXN2, SLC6A3, SNCA
3
Show member pathways
8.1ATXN2, ATXN7, RPS27A, SLC6A3, SNCA

GO Terms for genes affiliated with Olivopontocerebellar Atrophy

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Biological processes related to Olivopontocerebellar Atrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1membrane organizationGO:00610249.2MBP, RPS27A, SNCA
2synaptic transmissionGO:00072689.1GNAI2, MBP, SNCA
3cellular protein metabolic processGO:00442679.0NPPA, RPS27A, SNCA

Sources for Olivopontocerebellar Atrophy

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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