PAN
MCID: PLY112
MIFTS: 51

Polyarteritis Nodosa, Childhood-Onset (PAN)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Polyarteritis Nodosa, Childhood-Onset

MalaCards integrated aliases for Polyarteritis Nodosa, Childhood-Onset:

Name: Polyarteritis Nodosa, Childhood-Onset 58 41 74
Pan 58 77 76
Polyarteritis Nodosa 76 74
Ada2 Deficiency 58 76
Vasculitis Due to Ada2 Deficiency 60
Vasculitis Due to Dada2 60
Periarteritis Nodosa 76

Characteristics:

Orphanet epidemiological data:

60
vasculitis due to ada2 deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
variable manifestations
variable age at onset, usually in first decade, but can occur later


HPO:

33
polyarteritis nodosa, childhood-onset:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Polyarteritis Nodosa, Childhood-Onset

OMIM : 58 Childhood-onset polyarteritis nodosa is an autosomal recessive systemic vascular inflammatory disorder characterized mainly by involvement of the skin, nervous system, kidney, and gastrointestinal tract. There is considerable variability in the severity and age at onset, although most patients have onset of symptoms in the first decade. Features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, elevated acute-phase proteins, myalgias, and livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients develop hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency (van Eyck et al., 2014). (615688)

MalaCards based summary : Polyarteritis Nodosa, Childhood-Onset, also known as pan, is related to systemic polyarteritis nodosa and primary polyarteritis nodosa, and has symptoms including ataxia, myalgia and ophthalmoplegia. An important gene associated with Polyarteritis Nodosa, Childhood-Onset is ADA2 (Adenosine Deaminase 2). The drugs Cyclophosphamide and Azathioprine have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and kidney, and related phenotypes are hypertension and optic atrophy

UniProtKB/Swiss-Prot : 76 Polyarteritis nodosa: A systemic necrotizing vasculitis that affects medium and small arteries. The ensuing tissue ischemia can affect any organ, including the skin, musculoskeletal system, kidneys, gastrointestinal tract, and the cardiovascular and nervous systems. Organ involvement and disease severity are highly variable. Clinical features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, myalgias, livedoid rash, gastrointestinal pain and hepatosplenomegaly.

Wikipedia : 77 The killdeer (Charadrius vociferus) is a large plover found in the Americas. It was described and given... more...

Related Diseases for Polyarteritis Nodosa, Childhood-Onset

Diseases related to Polyarteritis Nodosa, Childhood-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 311)
# Related Disease Score Top Affiliating Genes
1 systemic polyarteritis nodosa 12.6
2 primary polyarteritis nodosa 12.6
3 secondary polyarteritis nodosa 12.5
4 single-organ polyarteritis nodosa 12.5
5 adenosine deaminase 2 deficiency 11.8
6 vasculitis 11.8
7 retinal vasculitis 11.7
8 autoimmune inner ear disease 11.7
9 sneddon syndrome 11.4
10 churg-strauss syndrome 11.1
11 kawasaki disease 11.0
12 eosinophilic granulomatosis with polyangiitis 11.0
13 hepatitis 10.9
14 hepatitis b 10.8
15 microscopic polyangiitis 10.7
16 allergic angiitis 10.7
17 familial mediterranean fever 10.6
18 arthritis 10.5
19 hepatitis c 10.5
20 myocardial infarction 10.5
21 purpura 10.5
22 lupus erythematosus 10.5
23 hepatitis c virus 10.4
24 glomerulonephritis 10.4
25 colitis 10.4
26 antiphospholipid syndrome 10.4
27 neuropathy 10.4
28 systemic lupus erythematosus 10.4
29 brucellosis 10.4
30 ischemia 10.4
31 pneumonia 10.4
32 temporal arteritis 10.3
33 encephalopathy 10.3
34 rheumatoid arthritis 10.3
35 myeloma, multiple 10.3
36 acute myocardial infarction 10.3
37 crohn's disease 10.3
38 leukemia 10.3
39 amyloidosis 10.3
40 nephrosclerosis 10.3
41 peripheral vascular disease 10.3
42 ulcerative colitis 10.3
43 lymphoma 10.3
44 vascular disease 10.3
45 mononeuritis multiplex 10.3
46 optic nerve disease 10.3
47 hairy cell leukemia 10.3
48 coronary artery aneurysm 10.3
49 psoriatic arthritis 10.2
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2

Graphical network of the top 20 diseases related to Polyarteritis Nodosa, Childhood-Onset:



Diseases related to Polyarteritis Nodosa, Childhood-Onset

Symptoms & Phenotypes for Polyarteritis Nodosa, Childhood-Onset

Human phenotypes related to Polyarteritis Nodosa, Childhood-Onset:

33 (show all 31)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 occasional (7.5%) HP:0000822
2 optic atrophy 33 occasional (7.5%) HP:0000648
3 anemia 33 occasional (7.5%) HP:0001903
4 decreased antibody level in blood 33 occasional (7.5%) HP:0004313
5 thrombocytosis 33 occasional (7.5%) HP:0001894
6 leukocytosis 33 occasional (7.5%) HP:0001974
7 leukopenia 33 occasional (7.5%) HP:0001882
8 lupus anticoagulant 33 occasional (7.5%) HP:0025343
9 ataxia 33 HP:0001251
10 arthritis 33 HP:0001369
11 splenomegaly 33 HP:0001744
12 hepatomegaly 33 HP:0002240
13 fever 33 HP:0001945
14 immunodeficiency 33 HP:0002721
15 abdominal pain 33 HP:0002027
16 peripheral neuropathy 33 HP:0009830
17 aphasia 33 HP:0002381
18 myalgia 33 HP:0003326
19 ophthalmoplegia 33 HP:0000602
20 agitation 33 HP:0000713
21 purpura 33 HP:0000979
22 vasculitis 33 HP:0002633
23 stroke 33 HP:0001297
24 headache 33 HP:0002315
25 hemiplegia 33 HP:0002301
26 cutis marmorata 33 HP:0000965
27 raynaud phenomenon 33 HP:0030880
28 erythema nodosum 33 HP:0012219
29 panniculitis 33 HP:0012490
30 dilatation 33 HP:0002617
31 elevated hepatic transaminase 33 HP:0002910

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
aphasia
agitation
headache
hemiplegia
more
Abdomen Spleen:
splenomegaly

Immunology:
immunodeficiency
leukocytosis
leukopenia
hypogammaglobulinemia (in some patients)

Head And Neck Eyes:
ophthalmoplegia
optic atrophy (1 patient)

Neurologic Peripheral Nervous System:
raynaud phenomenon
neuropathy

Abdomen Gastrointestinal:
gastrointestinal pain

Cardiovascular Vascular:
hypertension (in some patients)
stroke, ischemic
stroke, hemorrhagic
small-vessel disease
polyarteritis nodosa
more
Metabolic Features:
fever, recurrent

Genitourinary Kidneys:
renal artery aneurysms

Skeletal Feet:
ischemic digital necrosis

Skeletal:
arthritis

Abdomen Liver:
hepatomegaly

Muscle Soft Tissue:
myalgia

Skin Nails Hair Skin:
purpura
erythema nodosum
livedo reticularis
livedo racemosa
urticarial rash

Skin Nails Hair Skin Histology:
panniculitis
vasculitis in the reticular dermis
inflammatory infiltrate
interstitial neutrophils and macrophages
perivascular t lymphocytes
more
Hematology:
anemia (in some patients)
thrombocytosis (in some patients)
lupus anticoagulant (in some patients)

Laboratory Abnormalities:
abnormal liver enzymes
acute-phase reactants during fever

Head And Neck Face:
facial nerve palsies

Skeletal Hands:
ischemic digital necrosis

Clinical features from OMIM:

615688

UMLS symptoms related to Polyarteritis Nodosa, Childhood-Onset:


ataxia, myalgia, ophthalmoplegia, agitation, headache, hemiplegia, gastrointestinal pain, recurrent fevers

Drugs & Therapeutics for Polyarteritis Nodosa, Childhood-Onset

Drugs for Polyarteritis Nodosa, Childhood-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 6055-19-2, 50-18-0 2907
2
Azathioprine Approved Phase 4,Phase 3,Phase 2 446-86-6 2265
3
leucovorin Approved Phase 4,Phase 2 58-05-9 6006 143
4
Methylprednisolone Approved, Vet_approved Phase 4,Not Applicable 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 4,Not Applicable 2921-57-5
6
Methotrexate Approved Phase 4,Phase 2 1959-05-2, 59-05-2 126941
7
Prednisone Approved, Vet_approved Phase 4,Phase 2,Not Applicable 53-03-2 5865
8
Prednisolone phosphate Approved, Vet_approved Phase 4,Not Applicable 302-25-0
9
Prednisolone Approved, Vet_approved Phase 4,Not Applicable 50-24-8 5755
10
Mycophenolic acid Approved Phase 4 24280-93-1 446541
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 59-30-3 6037
12
Prednisolone hemisuccinate Experimental Phase 4,Not Applicable 2920-86-7
13 Antineoplastic Agents, Alkylating Phase 4,Phase 2,Phase 1,Not Applicable
14 Antimetabolites Phase 4,Phase 3,Phase 2
15 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2
17 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Alkylating Agents Phase 4,Phase 2,Phase 1,Not Applicable
19 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
20 Folic Acid Antagonists Phase 4,Phase 2
21 Gastrointestinal Agents Phase 4,Not Applicable
22 glucocorticoids Phase 4,Phase 2,Not Applicable
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Not Applicable
24 Protective Agents Phase 4,Not Applicable
25 Neuroprotective Agents Phase 4,Not Applicable
26 Dermatologic Agents Phase 4,Phase 2,Not Applicable
27 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2
28 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Not Applicable
29 Hormone Antagonists Phase 4,Phase 2,Not Applicable
30 Antiemetics Phase 4,Not Applicable
31 Methylprednisolone Acetate Phase 4,Not Applicable
32 Vitamin B9 Phase 4,Phase 2
33 Folate Phase 4,Phase 2
34 Hormones Phase 4,Phase 2,Not Applicable
35 Vitamin B Complex Phase 4,Phase 2
36 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
37 Autonomic Agents Phase 4,Not Applicable
38 Anti-Inflammatory Agents Phase 4,Phase 2,Not Applicable
39 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
40 Prednisolone acetate Phase 4,Not Applicable
41 Antibiotics, Antitubercular Phase 4
42 Antitubercular Agents Phase 4
43 Anti-Bacterial Agents Phase 4,Phase 2
44
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
45
Colchicine Approved Phase 2 64-86-8 6167 2833
46
Dapsone Approved, Investigational Phase 2 80-08-0 2955
47
Ethanol Approved Phase 2 64-17-5 702
48
Naltrexone Approved, Investigational, Vet_approved Phase 2 16590-41-3 5360515
49 Antiviral Agents Phase 2
50 Anti-Retroviral Agents Phase 2

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 CHUSPAN PAN BP Treatment of Polyarteritis Nodosa and Microscopic Polyangiitis Without Poor-Prognosis Factors Unknown status NCT00400075 Phase 4 azathioprine;cyclophosphamide
2 Treatment of Necrotizing Vasculitides for Patients Older Than 65 Years Completed NCT00307671 Phase 4 prednisone, methylprednisolone,cyclophosphamides;Cyclophosphamide, Azathioprine,prednisone,methylprednisolone;Mycophenolate mofetil,methotrexate
3 Association Corticosteroid/Azathioprine in Microscopic Polyangiitis/ Polyarteritis Nodosa or Eosinophilic Granulomatosis With Polyangiitis (Churg Strauss Syndrome) Completed NCT00647166 Phase 3 corticosteroid and azathioprine;corticosteroid and placebo
4 Cyclophosphamide Versus Methotrexate for Remission Maintenance in Systemic Necrotizing Vasculitides Unknown status NCT00751517 Phase 2 Methotrexate;Cyclophosphamide
5 Lamivudine for Chronic Hepatitis B Completed NCT00001457 Phase 2 Lamivudine
6 Steroids and Methotrexate to Treat Systemic Vasculitis Completed NCT00001256 Phase 2 prednisone and methotrexate
7 A Randomized Multicenter Study for Isolated Skin Vasculitis Recruiting NCT02939573 Phase 2 Colchicine;Dapsone;Azathioprine
8 Low Dose Naltrexone to Improve Physical Health in Patients With Vasculitis Recruiting NCT03482479 Phase 2 Naltrexone Hydrochloride
9 Hematopoietic Stem Cell Support in Vasculitis Terminated NCT00278512 Phase 1 Cyclophosphamide;ATG (rabbit);G-CSF;Campath-1h;Fludarabine;Tacrolimus;Mesna
10 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) Diagnostic and Classification Criteria for Primary Systemic Vasculitis Unknown status NCT01066208
11 Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases Unknown status NCT00006055 Not Applicable anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;methylprednisolone;prednisone
12 Survey of Patients With Idiopathic Orbital Inflammation Syndrome Unknown status NCT01443000
13 Educational Needs of Patients With Systemic Vasculitis Completed NCT02190929
14 Cyclophosphamide and Prednisone Followed by Methotrexate To Treat Vasculitides Completed NCT00001473
15 Reproductive Health in Men and Women With Vasculitis Completed NCT02176070
16 Vasculitis Illness Perception (VIP) Study Completed NCT02190916
17 Journey of Patients With Vasculitis From First Symptom to Diagnosis Completed NCT03410290
18 Impact of Vasculitis on Employment and Income Completed NCT02476292
19 Steroid-Induced Osteoporosis in the Pediatric Population - Canadian Incidence Study Completed NCT01663129
20 Determining Disease Activity Biomarkers in Individuals With Polyarteritis Nodosa Recruiting NCT00315406
21 Pediatric Vasculitis Initiative Recruiting NCT02006134
22 Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis Recruiting NCT02257866
23 One-Time DNA Study for Vasculitis Recruiting NCT01241305
24 VCRC Tissue Repository Recruiting NCT02967068
25 Clinical Transcriptomics in Systemic Vasculitis (CUTIS) Recruiting NCT03004326
26 Vasculitis Pregnancy Registry Recruiting NCT02593565
27 VCRC Patient Contact Registry Patient-Reported Data Validation Study Enrolling by invitation NCT02190942

Search NIH Clinical Center for Polyarteritis Nodosa, Childhood-Onset

Genetic Tests for Polyarteritis Nodosa, Childhood-Onset

Anatomical Context for Polyarteritis Nodosa, Childhood-Onset

MalaCards organs/tissues related to Polyarteritis Nodosa, Childhood-Onset:

42
Skin, Brain, Kidney, Lung, Testes, Breast, Liver

Publications for Polyarteritis Nodosa, Childhood-Onset

Articles related to Polyarteritis Nodosa, Childhood-Onset:

(show top 50) (show all 4044)
# Title Authors Year
1
Prognostic significance of circulating PD-1, PD-L1, pan-BTN3As, BTN3A1 and BTLA in patients with pancreatic adenocarcinoma. ( 30906655 )
2019
2
Health-related quality of life and anxiety in the PAN-CAN lung cancer screening cohort. ( 30659040 )
2019
3
Polyarteritis nodosa presenting atypically as appendicitis and pyelonephritis in a single patient. ( 30709887 )
2019
4
Pan-TAM tyrosine kinase inhibitor BMS-777607 enhances anti-PD-1 mAb efficacy in a murine model of triple-negative breast cancer. ( 30877108 )
2019
5
Molecular Alterations and Poziotinib Efficacy, a pan-HER inhibitor, in Human Epidermal Growth Factor Receptor 2 (HER2)-positive breast cancers: Combined Exploratory Biomarker Analysis from a Phase II Clinical Trial of Poziotinib for Refractory HER2-positive Breast Cancer Patients. ( 30720867 )
2019
6
Outcomes and modifiable resuscitative characteristics amongst pan-Asian out-of-hospital cardiac arrest occurring at night. ( 30855446 )
2019
7
MPO-ANCA-positive cutaneous polyarteritis nodosa with livedo racemosa arising from immune-deposit-positive necrotizing vasculitis. ( 30636392 )
2019
8
Outcomes in cystic fibrosis lung transplant recipients infected with organisms labeled aspan-resistant: An ISHLT Registry‒based analysis. ( 30733155 )
2019
9
Computational screening of medicinal plant phytochemicals to discover potent pan-serotype inhibitors against dengue virus. ( 30723263 )
2019
10
Characteristic dysbiosis of gut microbiota of chinese patients with diarrhea-predominant irritable bowel syndrome by an insight into the pan-microbiome. ( 30882461 )
2019
11
Isolated pan-pontine posterior reversible encephalopathy syndrome in a patient with uncontrolled hypertension. ( 30656003 )
2019
12
Pan-Asian adapted ESMO Clinical Practice Guidelines for the management of patients with metastatic gastric cancer: a JSMO-ESMO initiative endorsed by CSCO, KSMO, MOS, SSO and TOS. ( 30475956 )
2019
13
Association of menopausal characteristics and risk of coronary heart disease: a pan-European case-cohort analysis. ( 30796459 )
2019
14
A pan-genotypic Hepatitis C Virus NS5A amplification method for reliable genotyping and resistance testing. ( 30771598 )
2019
15
Discovery of a Series of 2'-α-Fluoro,2'-β-Bromo-Ribonucleosides and their Phosphoramidate Prodrugs as Potent Pan-Genotypic Inhibitors of Hepatitis C Virus. ( 30653317 )
2019
16
AZD1208, a Pan-Pim Kinase Inhibitor, Has Anti-Growth Effect on 93T449 Human Liposarcoma Cells via Control of the Expression and Phosphorylation of Pim-3, mTOR, 4EBP-1, S6, STAT-3 and AMPK. ( 30654529 )
2019
17
Preclinical Evaluation of the Pan-FGFR Inhibitor LY2874455 in FRS2-Amplified Liposarcoma. ( 30795553 )
2019
18
Genotype Driven Therapy for Non-Small Cell Lung Cancer: Resistance, Pan Inhibitors and Immunotherapy. ( 30854949 )
2019
19
Pan-Asian adapted Clinical Practice Guidelines for the management of patients with metastatic non-small-cell lung cancer: a CSCO-ESMO initiative endorsed by JSMO, KSMO, MOS, SSO and TOS. ( 30596843 )
2019
20
A phase 2 study of ofatumumab (Arzerra®) in combination with a pan-AKT inhibitor (afuresertib) in previously treated patients with chronic lymphocytic leukemia (CLL). ( 29916761 )
2019
21
Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. ( 30376427 )
2019
22
Dye coupled aptamer-captured enzyme catalysed reaction for detection of pan malaria and P. falciparum species in laboratory settings and instrument-free paper based platform. ( 30793883 )
2019
23
Plasmodium falciparum Parasitemia and Band Sensitivity of the SD Bioline Malaria Ag P.f/Pan Rapid Diagnostic Test in Madagascar. ( 30834883 )
2019
24
A Pan-ALDH1A Inhibitor Induces Necroptosis in Ovarian Cancer Stem-like Cells. ( 30865894 )
2019
25
Employing AgNPs doped amidoxime-modified polyacrylonitrile (PAN-oxime) nanofibers for target induced strand displacement-based electrochemical aptasensing of CA125 in ovarian cancer patients. ( 30678956 )
2019
26
Reinnervation of Extrinsic Finger Flexors and Brachioradialis 22 and 36 Months Following Traumatic Pan-Brachial Plexopathy: A Case Report. ( 30760136 )
2019
27
Triple combination therapy with high-dose ampicillin/sulbactam, high-dose tigecycline and colistin in the treatment of ventilator-associated pneumonia caused by pan-drug resistant Acinetobacter baumannii: a case series study. ( 30882373 )
2019
28
Tocilizumab treatment in refractory polyarteritis nodosa: a case report and review of the literature. ( 30465270 )
2019
29
PET-CT and polyarteritis nodosa-associated artery aneurysms. ( 30605534 )
2019
30
Serum lysosomal-associated membrane protein-2 levels are increased in small and medium vessel vasculitis, especially in polyarteritis nodosa. ( 30620279 )
2019
31
A 9.5-year-old boy with recurrent neurological manifestations and severe hypertension, treated initially for polyarteritis nodosa, was subsequently diagnosed with adenosine deaminase type 2 deficiency (DADA2) which responded to anti-TNF-α. ( 30642227 )
2019
32
Papillophlebitis as manifestation of polyarteritis nodosa. ( 30733066 )
2019
33
Necrosis of the small intestine leading to a diagnosis of polyarteritis nodosa: a case report. ( 30850017 )
2019
34
Polyarteritis Nodosa in a Cat with Involvement of the Central and Peripheral Nervous Systems. ( 30898299 )
2019
35
Dacomitinib, a new pan-EGFR inhibitor, is effective in attenuating pulmonary vascular remodeling and pulmonary hypertension. ( 30753867 )
2019
36
Pan-European Expert Meeting on the Use of Metronomic Chemotherapy in Advanced Breast Cancer Patients: The PENELOPE Project. ( 30565179 )
2019
37
Evaluation of mass spectrometry detection of pan-fungal serum disaccharide (MS-DS) for the diagnosis of invasive fungal infections: results from a collaborative study involving six European clinical centres. ( 30787140 )
2019
38
CAR T cells targeting B7-H3, a Pan-Cancer Antigen, Demonstrate Potent Preclinical Activity Against Pediatric Solid Tumors and Brain Tumors. ( 30655315 )
2019
39
Pan-Asia United States PrEvention of Sudden Cardiac Death Catheter Ablation Trial (PAUSE-SCD): rationale and study design. ( 30891654 )
2019
40
Road map towards a harmonized pan-European surveillance of obesity-related lifestyle behaviours and their determinants in children and adolescents. ( 30888434 )
2019
41
A comprehensive analysis of chimpanzee (Pan troglodytes)-specific LINE-1 retrotransposons. ( 30690181 )
2019
42
Atipamezole is a promising non-discriminative inhibitor against pan-CYP450 including diclofenac 4'-hydroxylation: A comparison with ABT for drug ADME optimization and mechanism study. ( 30690186 )
2019
43
River pollution by priority chemical substances under the Water Framework Directive: A provisional pan-European assessment. ( 30690377 )
2019
44
Author Correction: Pan-cancer analysis of homozygous deletions in primary tumours uncovers rare tumour suppressors. ( 30692535 )
2019
45
DeepSeqPan, a novel deep convolutional neural network model for pan-specific class I HLA-peptide binding affinity prediction. ( 30692623 )
2019
46
Stable isotope variation in savanna chimpanzees (Pan troglodytes verus) indicate avoidance of energetic challenges through dietary compensation at the limits of the range. ( 30693959 )
2019
47
Integrative analysis identifies potential DNA methylation biomarkers for pan-cancer diagnosis and prognosis. ( 30696380 )
2019
48
Detection of bovine pestiviruses in sera of beef calves by a RT-PCR based on a newly designed set of pan-bovine pestivirus primers. ( 30698509 )
2019
49
Pan-African genome. ( 30700891 )
2019
50
The Pan-Canadian Approach to Wildlife Health. ( 30705448 )
2019

Variations for Polyarteritis Nodosa, Childhood-Onset

UniProtKB/Swiss-Prot genetic disease variations for Polyarteritis Nodosa, Childhood-Onset:

76
# Symbol AA change Variation ID SNP ID
1 ADA2 p.Gly47Arg VAR_071137 rs202134424
2 ADA2 p.Gly47Val VAR_071138 rs200930463
3 ADA2 p.Ala109Asp VAR_071139 rs587777240
4 ADA2 p.His112Gln VAR_071140 rs587777241
5 ADA2 p.Arg169Gln VAR_071141 rs77563738
6 ADA2 p.Pro251Leu VAR_071142 rs148936893
7 ADA2 p.Trp264Ser VAR_071143 rs587777242
8 ADA2 p.Tyr453Cys VAR_071144 rs376785840

ClinVar genetic disease variations for Polyarteritis Nodosa, Childhood-Onset:

6 (show top 50) (show all 86)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADA2 NM_001282225.1(ADA2): c.1358A> G (p.Tyr453Cys) single nucleotide variant Pathogenic rs376785840 GRCh37 Chromosome 22, 17662794: 17662794
2 ADA2 NM_001282225.1(ADA2): c.1358A> G (p.Tyr453Cys) single nucleotide variant Pathogenic rs376785840 GRCh38 Chromosome 22, 17181904: 17181904
3 ADA2 NM_001282225.1(ADA2): c.326C> A (p.Ala109Asp) single nucleotide variant Pathogenic rs587777240 GRCh37 Chromosome 22, 17688177: 17688177
4 ADA2 NM_001282225.1(ADA2): c.326C> A (p.Ala109Asp) single nucleotide variant Pathogenic rs587777240 GRCh38 Chromosome 22, 17207287: 17207287
5 ADA2 NM_001282225.1(ADA2): c.140G> C (p.Gly47Ala) single nucleotide variant Pathogenic rs200930463 GRCh37 Chromosome 22, 17690428: 17690428
6 ADA2 NM_001282225.1(ADA2): c.140G> C (p.Gly47Ala) single nucleotide variant Pathogenic rs200930463 GRCh38 Chromosome 22, 17209538: 17209538
7 ADA2 NM_001282225.1(ADA2): c.336C> G (p.His112Gln) single nucleotide variant Pathogenic rs587777241 GRCh37 Chromosome 22, 17688167: 17688167
8 ADA2 NM_001282225.1(ADA2): c.336C> G (p.His112Gln) single nucleotide variant Pathogenic rs587777241 GRCh38 Chromosome 22, 17207277: 17207277
9 ADA2 NM_001282225.1(ADA2): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic rs77563738 GRCh37 Chromosome 22, 17687997: 17687997
10 ADA2 NM_001282225.1(ADA2): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic rs77563738 GRCh38 Chromosome 22, 17207107: 17207107
11 ADA2 NM_001282228.1(ADA2): c.13G> A (p.Gly5Arg) single nucleotide variant Likely pathogenic rs202134424 GRCh37 Chromosome 22, 17690429: 17690429
12 ADA2 NM_001282228.1(ADA2): c.13G> A (p.Gly5Arg) single nucleotide variant Likely pathogenic rs202134424 GRCh38 Chromosome 22, 17209539: 17209539
13 ADA2 NM_001282225.1(ADA2): c.752C> T (p.Pro251Leu) single nucleotide variant Pathogenic rs148936893 GRCh38 Chromosome 22, 17203564: 17203564
14 ADA2 NM_001282225.1(ADA2): c.752C> T (p.Pro251Leu) single nucleotide variant Pathogenic rs148936893 GRCh37 Chromosome 22, 17684454: 17684454
15 ADA2 NM_001282225.1(ADA2): c.140G> T (p.Gly47Val) single nucleotide variant Pathogenic rs200930463 GRCh37 Chromosome 22, 17690428: 17690428
16 ADA2 NM_001282225.1(ADA2): c.140G> T (p.Gly47Val) single nucleotide variant Pathogenic rs200930463 GRCh38 Chromosome 22, 17209538: 17209538
17 ADA2 NM_001282225.1(ADA2): c.791G> C (p.Trp264Ser) single nucleotide variant Pathogenic rs587777242 GRCh37 Chromosome 22, 17672663: 17672663
18 ADA2 NM_001282225.1(ADA2): c.791G> C (p.Trp264Ser) single nucleotide variant Pathogenic rs587777242 GRCh38 Chromosome 22, 17191773: 17191773
19 ADA2 NM_001282225.1(ADA2): c.145C> T (p.Arg49Trp) single nucleotide variant Uncertain significance rs199614299 GRCh38 Chromosome 22, 17209533: 17209533
20 ADA2 NM_001282225.1(ADA2): c.145C> T (p.Arg49Trp) single nucleotide variant Uncertain significance rs199614299 GRCh37 Chromosome 22, 17690423: 17690423
21 ADA2 NM_001282225.1(ADA2): c.927G> A (p.Met309Ile) single nucleotide variant Likely benign rs146597836 GRCh38 Chromosome 22, 17189987: 17189987
22 ADA2 NM_001282225.1(ADA2): c.927G> A (p.Met309Ile) single nucleotide variant Likely benign rs146597836 GRCh37 Chromosome 22, 17670877: 17670877
23 ADA2 NM_001282225.1(ADA2): c.1045G> A (p.Val349Ile) single nucleotide variant Benign rs74317375 GRCh37 Chromosome 22, 17669265: 17669265
24 ADA2 NM_001282225.1(ADA2): c.1045G> A (p.Val349Ile) single nucleotide variant Benign rs74317375 GRCh38 Chromosome 22, 17188375: 17188375
25 ADA2 NM_001282225.1(ADA2): c.83T> C (p.Leu28Pro) single nucleotide variant Uncertain significance rs777404100 GRCh38 Chromosome 22, 17209595: 17209595
26 ADA2 NM_001282225.1(ADA2): c.83T> C (p.Leu28Pro) single nucleotide variant Uncertain significance rs777404100 GRCh37 Chromosome 22, 17690485: 17690485
27 ADA2 NM_001282225.1(ADA2): c.1531A> C (p.Lys511Gln) single nucleotide variant Uncertain significance rs535337577 GRCh38 Chromosome 22, 17181488: 17181488
28 ADA2 NM_001282225.1(ADA2): c.1531A> C (p.Lys511Gln) single nucleotide variant Uncertain significance rs535337577 GRCh37 Chromosome 22, 17662378: 17662378
29 ADA2 NM_001282225.1(ADA2): c.1071C> T (p.Ala357=) single nucleotide variant Likely benign rs144447953 GRCh38 Chromosome 22, 17188349: 17188349
30 ADA2 NM_001282225.1(ADA2): c.1071C> T (p.Ala357=) single nucleotide variant Likely benign rs144447953 GRCh37 Chromosome 22, 17669239: 17669239
31 ADA2 NM_001282225.1(ADA2): c.1386T> C (p.Ile462=) single nucleotide variant Likely benign rs373797039 GRCh37 Chromosome 22, 17662766: 17662766
32 ADA2 NM_001282225.1(ADA2): c.1386T> C (p.Ile462=) single nucleotide variant Likely benign rs373797039 GRCh38 Chromosome 22, 17181876: 17181876
33 ADA2 NM_001282225.1(ADA2): c.434A> C (p.Gln145Pro) single nucleotide variant Uncertain significance rs1437000359 GRCh38 Chromosome 22, 17207179: 17207179
34 ADA2 NM_001282225.1(ADA2): c.434A> C (p.Gln145Pro) single nucleotide variant Uncertain significance rs1437000359 GRCh37 Chromosome 22, 17688069: 17688069
35 ADA2 NM_001282225.1(ADA2): c.1269C> G (p.Asn423Lys) single nucleotide variant Likely pathogenic rs1226708979 GRCh37 Chromosome 22, 17662883: 17662883
36 ADA2 NM_001282225.1(ADA2): c.1269C> G (p.Asn423Lys) single nucleotide variant Likely pathogenic rs1226708979 GRCh38 Chromosome 22, 17181993: 17181993
37 ADA2 NM_001282225.1(ADA2): c.1299G> A (p.Gly433=) single nucleotide variant Likely benign rs370907740 GRCh38 Chromosome 22, 17181963: 17181963
38 ADA2 NM_001282225.1(ADA2): c.1299G> A (p.Gly433=) single nucleotide variant Likely benign rs370907740 GRCh37 Chromosome 22, 17662853: 17662853
39 ADA2 NM_001282225.1(ADA2): c.1172A> G (p.His391Arg) single nucleotide variant Uncertain significance rs749413678 GRCh37 Chromosome 22, 17663561: 17663561
40 ADA2 NM_001282225.1(ADA2): c.1172A> G (p.His391Arg) single nucleotide variant Uncertain significance rs749413678 GRCh38 Chromosome 22, 17182671: 17182671
41 ADA2 NM_001282225.1(ADA2): c.1203G> A (p.Lys401=) single nucleotide variant Likely benign rs960845017 GRCh38 Chromosome 22, 17182640: 17182640
42 ADA2 NM_001282225.1(ADA2): c.1203G> A (p.Lys401=) single nucleotide variant Likely benign rs960845017 GRCh37 Chromosome 22, 17663530: 17663530
43 ADA2 NM_001282225.1(ADA2): c.660C> T (p.Tyr220=) single nucleotide variant Benign rs2231487 GRCh37 Chromosome 22, 17684546: 17684546
44 ADA2 NM_001282225.1(ADA2): c.660C> T (p.Tyr220=) single nucleotide variant Benign rs2231487 GRCh38 Chromosome 22, 17203656: 17203656
45 ADA2 NM_001282225.1(ADA2): c.729G> A (p.Met243Ile) single nucleotide variant Uncertain significance rs151014930 GRCh38 Chromosome 22, 17203587: 17203587
46 ADA2 NM_001282225.1(ADA2): c.729G> A (p.Met243Ile) single nucleotide variant Uncertain significance rs151014930 GRCh37 Chromosome 22, 17684477: 17684477
47 ADA2 NM_001282225.1(ADA2): c.542+7A> G single nucleotide variant Benign rs149078840 GRCh38 Chromosome 22, 17207064: 17207064
48 ADA2 NM_001282225.1(ADA2): c.542+7A> G single nucleotide variant Benign rs149078840 GRCh37 Chromosome 22, 17687954: 17687954
49 ADA2 NM_001282225.1(ADA2): c.579G> A (p.Pro193=) single nucleotide variant Likely benign rs771793355 GRCh38 Chromosome 22, 17203737: 17203737
50 ADA2 NM_001282225.1(ADA2): c.579G> A (p.Pro193=) single nucleotide variant Likely benign rs771793355 GRCh37 Chromosome 22, 17684627: 17684627

Expression for Polyarteritis Nodosa, Childhood-Onset

Search GEO for disease gene expression data for Polyarteritis Nodosa, Childhood-Onset.

Pathways for Polyarteritis Nodosa, Childhood-Onset

GO Terms for Polyarteritis Nodosa, Childhood-Onset

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