PAN
MCID: PLY112
MIFTS: 49

Polyarteritis Nodosa, Childhood-Onset (PAN)

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

Aliases & Classifications for Polyarteritis Nodosa, Childhood-Onset

MalaCards integrated aliases for Polyarteritis Nodosa, Childhood-Onset:

Name: Polyarteritis Nodosa, Childhood-Onset 57 40 73
Pan 57 76 75
Polyarteritis Nodosa 75 73
Ada2 Deficiency 57 75
Vasculitis Due to Ada2 Deficiency 59
Vasculitis Due to Dada2 59
Periarteritis Nodosa 75

Characteristics:

Orphanet epidemiological data:

59
vasculitis due to ada2 deficiency
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
polyarteritis nodosa, childhood-onset:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Polyarteritis Nodosa, Childhood-Onset

OMIM : 57 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 agitation. An important gene associated with Polyarteritis Nodosa, Childhood-Onset is ADA2 (Adenosine Deaminase 2). Affiliated tissues include brain, skin and kidney, and related phenotypes are hypertension and ataxia

UniProtKB/Swiss-Prot : 75 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 : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... 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 297)
# Related Disease Score Top Affiliating Genes
1 systemic polyarteritis nodosa 12.6
2 primary polyarteritis nodosa 12.5
3 secondary polyarteritis nodosa 12.4
4 single-organ polyarteritis nodosa 12.4
5 adenosine deaminase 2 deficiency 11.8
6 vasculitis 11.7
7 retinal vasculitis 11.7
8 autoimmune inner ear disease 11.6
9 sneddon syndrome 11.3
10 churg-strauss syndrome 11.1
11 kawasaki disease 11.0
12 eosinophilic granulomatosis with polyangiitis 11.0
13 hepatitis 10.8
14 hepatitis b 10.8
15 microscopic polyangiitis 10.7
16 allergic angiitis 10.6
17 familial mediterranean fever 10.5
18 hepatitis c 10.5
19 viral infectious disease 10.5
20 hepatitis c virus 10.4
21 arthritis 10.4
22 purpura 10.4
23 myocardial infarction 10.4
24 antiphospholipid syndrome 10.4
25 colitis 10.4
26 ischemia 10.4
27 lupus erythematosus 10.4
28 systemic lupus erythematosus 10.3
29 temporal arteritis 10.3
30 pneumonia 10.3
31 encephalopathy 10.3
32 acute myocardial infarction 10.3
33 crohn's disease 10.3
34 neuropathy 10.3
35 polyarteritis nodosa 10.3
36 nephrosclerosis 10.3
37 myeloma, multiple 10.3
38 peripheral vascular disease 10.3
39 vascular disease 10.3
40 mononeuritis multiplex 10.3
41 amyloidosis 10.3
42 coronary artery aneurysm 10.3
43 psoriatic arthritis 10.2
44 glomerulonephritis 10.2
45 ulcerative colitis 10.2
46 lymphoma 10.2
47 thrombophlebitis 10.2
48 periostitis 10.2
49 retroperitoneal fibrosis 10.2
50 neurofibromatosis, type ii 10.1

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
aphasia
agitation
headache
hemiplegia
more
Abdomen Spleen:
splenomegaly

Immunology:
immunodeficiency
leukocytosis
leukopenia
hypogammaglobulinemia (in some patients)

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

Neurologic Peripheral Nervous System:
raynaud phenomenon
neuropathy

Hematology:
anemia (in some patients)
thrombocytosis (in some patients)
lupus anticoagulant (in some patients)

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

Metabolic Features:
fever, recurrent

Genitourinary Kidneys:
renal artery aneurysms

Skeletal Feet:
ischemic digital necrosis

Skeletal:
arthritis

Abdomen Liver:
hepatomegaly

Muscle Soft Tissue:
myalgia

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

Skin Nails Hair Skin Histology:
panniculitis
vasculitis in the reticular dermis
inflammatory infiltrate
interstitial neutrophils and macrophages
perivascular t lymphocytes
more
Cardiovascular Vascular:
hypertension (in some patients)
stroke, ischemic
stroke, hemorrhagic
small-vessel disease
polyarteritis nodosa
more
Abdomen Gastrointestinal:
gastrointestinal pain

Head And Neck Face:
facial nerve palsies

Skeletal Hands:
ischemic digital necrosis


Clinical features from OMIM:

615688

Human phenotypes related to Polyarteritis Nodosa, Childhood-Onset:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 occasional (7.5%) HP:0000822
2 ataxia 32 HP:0001251
3 arthritis 32 HP:0001369
4 splenomegaly 32 HP:0001744
5 hepatomegaly 32 HP:0002240
6 optic atrophy 32 occasional (7.5%) HP:0000648
7 fever 32 HP:0001945
8 immunodeficiency 32 HP:0002721
9 anemia 32 occasional (7.5%) HP:0001903
10 abdominal pain 32 HP:0002027
11 peripheral neuropathy 32 HP:0009830
12 decreased antibody level in blood 32 occasional (7.5%) HP:0004313
13 aphasia 32 HP:0002381
14 myalgia 32 HP:0003326
15 agitation 32 HP:0000713
16 purpura 32 HP:0000979
17 thrombocytosis 32 occasional (7.5%) HP:0001894
18 leukocytosis 32 occasional (7.5%) HP:0001974
19 vasculitis 32 HP:0002633
20 stroke 32 HP:0001297
21 headache 32 HP:0002315
22 hemiplegia 32 HP:0002301
23 ophthalmoplegia 32 HP:0000602
24 cutis marmorata 32 HP:0000965
25 leukopenia 32 occasional (7.5%) HP:0001882
26 raynaud phenomenon 32 HP:0030880
27 erythema nodosum 32 HP:0012219
28 lupus anticoagulant 32 occasional (7.5%) HP:0025343
29 panniculitis 32 HP:0012490
30 dilatation 32 HP:0002617
31 elevated hepatic transaminase 32 HP:0002910

UMLS symptoms related to Polyarteritis Nodosa, Childhood-Onset:


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

Drugs & Therapeutics for Polyarteritis Nodosa, Childhood-Onset

Search Clinical Trials , 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:

41
Brain, Skin, Kidney, Liver, Lung, Neutrophil, Heart

Publications for Polyarteritis Nodosa, Childhood-Onset

Articles related to Polyarteritis Nodosa, Childhood-Onset:

(show top 50) (show all 1989)
# Title Authors Year
1
Sonication induced effective approach for coloration of compact polyacrylonitrile (PAN) nanofibers. ( 30262234 )
2019
2
A modeling study of the peroxyacetyl nitrate (PAN) during a wintertime haze event in Beijing, China. ( 30286360 )
2019
3
Genomic and metabolic features of the Bacillus amyloliquefaciens group- B. amyloliquefaciens, B. velezensis, and B. siamensis- revealed by pan-genome analysis. ( 30297045 )
2019
4
Pan-PIM kinase inhibitors enhance Lenalidomide's anti-myeloma activity via cereblon-IKZF1/3 cascade. ( 30312729 )
2019
5
Fosfomycin in severe infections due to genetically distinct pan-drug-resistant Gram-negative microorganisms: synergy with meropenem. ( 30376073 )
2019
6
Anticancer effect of pan-PI3K inhibitor on multiple myeloma cells: Shedding new light on the mechanisms involved in BKM120 resistance. ( 30401630 )
2019
7
Measurement of Sylvian Fissure asymmetry and occipital bending in humans and Pan troglodytes. ( 30170149 )
2019
8
Coordinative integration of copper (II) and iron (II) phthalocyanine into amidoximated PAN fiber for enhanced photocatalytic activity under visible light irradiation. ( 30172144 )
2019
9
Severe and Refractory Polyarteritis Nodosa Associated With CECR1 Mutation and Dramatic Response to Infliximab in Adulthood. ( 29916967 )
2018
10
Minocycline-associated polyarteritis nodosa and self-limiting hepatitis: a reminder of a potentially re-emerging culprit in drug-induced autoimmune syndromes. ( 29532736 )
2018
11
Clinical and Laboratory Markers Associated With Relapse in Cutaneous Polyarteritis Nodosa. ( 29955757 )
2018
12
Blue toe syndrome in cutaneous polyarteritis nodosa. ( 29534226 )
2018
13
Adalimumab therapy in hepatitis B virus-negative polyarteritis nodosa: A case report. ( 29923995 )
2018
14
Diagnosis and management of ADA2 deficient polyarteritis nodosa. ( 29624883 )
2018
15
Atypical case of classical polyarteritis nodosa: alveolar hemorrhage and positive antineutrophil cytoplasmic antibodya8c. ( 29162217 )
2018
16
Diagnosis of deficiency of adenosine deaminase 2 with early onset polyarteritis nodosa in an adult patient with a novel compound heterozygous CECR1 mutation. ( 29600946 )
2018
17
Rhabdomyolysis in a Patient with Polyarteritis Nodosa. ( 29021478 )
2018
18
Vasculitis or coronary atherosclerosis? Optical coherence tomography images in polyarteritis nodosa. ( 29652433 )
2018
19
The Role of Renal Angiography in Hepatitis B-related Polyarteritis Nodosa. ( 29515309 )
2018
20
Interobserver reliability of histopathological features for distinguishing between cutaneous polyarteritis nodosa and superficial thrombophlebitis. ( 29675878 )
2018
21
Childhood Polyarteritis Nodosa Presenting With Symmetric Digital Gangrene and Hyperesthesia. ( 29384826 )
2018
22
Catastrophic multiple arterial dissections revealing concomitant polyarteritis nodosa and vascular Elhers-Danlos syndrome. ( 29745881 )
2018
23
Abdominal pain leading to incidental finding of polyarteritis nodosa. ( 29954772 )
2018
24
Acute Necrotizing Vasculitic Neuropathy due to Polyarteritis Nodosa. ( 29896335 )
2018
25
Case Report of Empagliflozin-Induced Cutaneous Polyarteritis Nodosa. ( 29457486 )
2018
26
Cutaneous polyarteritis nodosa resulting from a paclitaxel-eluting balloon angioplasty. ( 29387747 )
2018
27
Thrombosed Aneurysm of the Posterior Inferior Cerebellar Artery and Lateral Medullary Ischemia as the Initial Presentation of Polyarteritis Nodosa: Case Report and Literature Review. ( 29602618 )
2018
28
Polyarteritis Nodosa in Pregnancy. ( 29559879 )
2018
29
Prostate cancer-associated polyarteritis nodosa: improvement of clinical manifestations after prostatectomy. ( 29352851 )
2018
30
Case Report: Polyarteritis nodosa or complicated Henoch-Schonlein purpura (IgAV), a rare case. ( 29770208 )
2018
31
The "Nodes" in Polyarteritis Nodosa-Coronary Artery Aneurysms. ( 29846272 )
2018
32
Spontaneous bilateral perirenal and splenic haematoma in childhood onset polyarteritis nodosa. ( 29950374 )
2018
33
Clinical Activity of Pan-HER Inhibitors Against HER2-Mutant Lung Adenocarcinoma. ( 30149884 )
2018
34
Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy. ( 29531232 )
2018
35
Improving primary care physicians' capacity: A pan India initiative on management of chronic obstructive pulmonary disease and asthma. ( 30168475 )
2018
36
The impact of spot size, spacing, pattern, duration and intensity of burns on the photocoagulation index in a geometric simulation of pan-retinal laser photocoagulation. ( 30511421 )
2018
37
Pan-American League of Associations for Rheumatology-Central American, Caribbean and Andean Rheumatology Association Consensus-Conference Endorsements and Recommendations on the Diagnosis and Treatment of Chikungunya-Related Inflammatory Arthropathies in Latin America. ( 30028809 )
2018
38
Combined CDK4/6 and Pan-mTOR Inhibition Is Synergistic Against Intrahepatic Cholangiocarcinoma. ( 30084835 )
2018
39
Belfast Agar-a simple laboratory medium to separate Pseudomonas aeruginosa from pan-resistant Burkholderia cenocepacia isolated from the sputum of patients with cystic fibrosis (CF). ( 29513134 )
2018
40
A comparison of water quality and macroinvertebrate community structure in endorheic depression wetlands and a salt pan in the Gauteng province, South Africa. ( 30539377 )
2018
41
Polyarteritis nodosa in case of familial Mediterranean fever. ( 30511549 )
2018
42
Pan-HDAC inhibitors restore PRDM1response to IL-21 in CREBBP mutated follicular lymphoma. ( 30348636 )
2018
43
The Novel Selective Pan-TRK Inhibitor ONO-7579 Exhibits Antitumor Efficacy Against Human Gallbladder Cancer In Vitro. ( 29599313 )
2018
44
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 )
2018
45
Meta-analysis of the efficacy and safety of pantoprazole in the treatment and symptom relief of patients with gastroesophageal reflux disease - PAN-STAR. ( 29657605 )
2018
46
A phase Ib study of BGJ398, a pan-FGFR kinase inhibitor in combination with imatinib in patients with advanced gastrointestinal stromal tumor. ( 30101387 )
2018
47
Left Pan-Hippocampal Low Grade Glioma-2-Stage Transsylvian Transventricular and Paramedian Supracerebellar Transtentorial Approaches: 2-Dimensional Operative Video. ( 30295907 )
2018
48
Polyarteritis Nodosa and Membranous Glomerulonephritis: Two Simultaneous Extrahepatic Manifestations of Hepatitis B. ( 29965852 )
2018
49
Insights into the population structure and pan-genome of Haemophilus influenzae. ( 30391557 )
2018
50
The Pan-African Society of Cardiology position paper on reproductive healthcare for women with rheumatic heart disease. ( 30234226 )
2018

Variations for Polyarteritis Nodosa, Childhood-Onset

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

75
# 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 GRCh37 Chromosome 22, 17688069: 17688069
34 ADA2 NM_001282225.1(ADA2): c.434A> C (p.Gln145Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 17207179: 17207179
35 ADA2 NM_001282225.1(ADA2): c.1269C> G (p.Asn423Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 17662883: 17662883
36 ADA2 NM_001282225.1(ADA2): c.1269C> G (p.Asn423Lys) single nucleotide variant Likely pathogenic 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 GRCh38 Chromosome 22, 17182671: 17182671
40 ADA2 NM_001282225.1(ADA2): c.1172A> G (p.His391Arg) single nucleotide variant Uncertain significance rs749413678 GRCh37 Chromosome 22, 17663561: 17663561
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 GRCh38 Chromosome 22, 17203656: 17203656
44 ADA2 NM_001282225.1(ADA2): c.660C> T (p.Tyr220=) single nucleotide variant Benign rs2231487 GRCh37 Chromosome 22, 17684546: 17684546
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

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Pathways for Polyarteritis Nodosa, Childhood-Onset

GO Terms for Polyarteritis Nodosa, Childhood-Onset

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