MCID: PLY112
MIFTS: 36

Polyarteritis Nodosa, Childhood-Onset

Categories: Genetic diseases, Cardiovascular diseases, Bone diseases, Blood 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 adenosine deaminase 2 deficiency and polyarteritis nodosa, and has symptoms including ataxia, headache and hemiplegia. 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 ophthalmoplegia and optic atrophy

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.

Related Diseases for Polyarteritis Nodosa, Childhood-Onset

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

# Related Disease Score Top Affiliating Genes
1 adenosine deaminase 2 deficiency 11.6
2 polyarteritis nodosa 10.0

Symptoms & Phenotypes for Polyarteritis Nodosa, Childhood-Onset

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
aphasia
agitation
headache
hemiplegia
more
AbdomenSpleen:
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

Head And Neck Face:
facial nerve palsies

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
Metabolic Features:
fever, recurrent

Abdomen Gastrointestinal:
gastrointestinal pain

Skeletal Hands:
ischemic digital necrosis


Clinical features from OMIM:

615688

Human phenotypes related to Polyarteritis Nodosa, Childhood-Onset:

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

UMLS symptoms related to Polyarteritis Nodosa, Childhood-Onset:


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

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, Neutrophil, Bone, T Cells

Publications for Polyarteritis Nodosa, Childhood-Onset

Articles related to Polyarteritis Nodosa, Childhood-Onset:

(show top 50) (show all 787)
# Title Authors Year
1
Severe and Refractory Polyarteritis Nodosa Associated With CECR1 Mutation and Dramatic Response to Infliximab in Adulthood. ( 29916967 )
2018
2
Minocycline-associated polyarteritis nodosa and self-limiting hepatitis: a reminder of a potentially re-emerging culprit in drug-induced autoimmune syndromes. ( 29532736 )
2018
3
Clinical and Laboratory Markers Associated With Relapse in Cutaneous Polyarteritis Nodosa. ( 29955757 )
2018
4
Blue toe syndrome in cutaneous polyarteritis nodosa. ( 29534226 )
2018
5
Adalimumab therapy in hepatitis B virus-negative polyarteritis nodosa: A case report. ( 29923995 )
2018
6
Diagnosis and management of ADA2 deficient polyarteritis nodosa. ( 29624883 )
2018
7
Atypical case of classical polyarteritis nodosa: alveolar hemorrhage and positive antineutrophil cytoplasmic antibodya8c. ( 29162217 )
2018
8
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
9
Rhabdomyolysis in a Patient with Polyarteritis Nodosa. ( 29021478 )
2018
10
Vasculitis or coronary atherosclerosis? Optical coherence tomography images in polyarteritis nodosa. ( 29652433 )
2018
11
The Role of Renal Angiography in Hepatitis B-related Polyarteritis Nodosa. ( 29515309 )
2018
12
Interobserver reliability of histopathological features for distinguishing between cutaneous polyarteritis nodosa and superficial thrombophlebitis. ( 29675878 )
2018
13
Childhood Polyarteritis Nodosa Presenting With Symmetric Digital Gangrene and Hyperesthesia. ( 29384826 )
2018
14
Catastrophic multiple arterial dissections revealing concomitant polyarteritis nodosa and vascular Elhers-Danlos syndrome. ( 29745881 )
2018
15
Abdominal pain leading to incidental finding of polyarteritis nodosa. ( 29954772 )
2018
16
Acute Necrotizing Vasculitic Neuropathy due to Polyarteritis Nodosa. ( 29896335 )
2018
17
Case Report of Empagliflozin-Induced Cutaneous Polyarteritis Nodosa. ( 29457486 )
2018
18
Cutaneous polyarteritis nodosa resulting from a paclitaxel-eluting balloon angioplasty. ( 29387747 )
2018
19
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
20
Polyarteritis Nodosa in Pregnancy. ( 29559879 )
2018
21
Prostate cancer-associated polyarteritis nodosa: improvement of clinical manifestations after prostatectomy. ( 29352851 )
2018
22
Case Report: Polyarteritis nodosa or complicated Henoch-Schonlein purpura (IgAV), a rare case. ( 29770208 )
2018
23
The "Nodes" in Polyarteritis Nodosa-Coronary Artery Aneurysms. ( 29846272 )
2018
24
Spontaneous bilateral perirenal and splenic haematoma in childhood onset polyarteritis nodosa. ( 29950374 )
2018
25
Polyarteritis Nodosa and Membranous Glomerulonephritis: Two Simultaneous Extrahepatic Manifestations of Hepatitis B. ( 29965852 )
2018
26
Reply to Letter to Editor regarding the article, "Polyarteritis nodosa presenting as peripheral vascular disease and acute limb ischemia". ( 28397743 )
2017
27
Association of five-factor score with the mortality in Japanese patients with polyarteritis nodosa. ( 28648103 )
2017
28
Endovascular coil treatment of a coronary artery aneurysm related to polyarteritis nodosa. ( 29145218 )
2017
29
Cytomegalovirus-Induced Polyarteritis Nodosa in a Liver Transplant Recipient. ( 28556523 )
2017
30
Cutaneous polyarteritis nodosa causing refractory skin deformation and pigmentation as sequel. ( 29267446 )
2017
31
Coronary Artery Bypass Grafting in a Patient With Polyarteritis Nodosa. ( 28431718 )
2017
32
A Case of Polyarteritis Nodosa Presenting as Rapidly Progressing Intermittent Claudication of Right Leg. ( 29109739 )
2017
33
Rare and unusual case of polyarteritis nodosa involving the gastrointestinal tract leading to bowel gangrene. ( 28062430 )
2017
34
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. ( 28522451 )
2017
35
Acute kidney failure due to polyarteritis nodosa. ( 27939915 )
2017
36
A case of cutaneous polyarteritis nodosa with PR3-ANCA. ( 28681726 )
2017
37
The changing face of polyarteritis nodosa and necrotizing vasculitis. ( 28490787 )
2017
38
Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders. ( 28983775 )
2017
39
The histopathology of cutaneous polyarteritis nodosa and its relationship with lymphocytic thrombophilic arteritis. ( 28198027 )
2017
40
Adding Azathioprine to Remission-Induction Glucocorticoids for Eosinophilic Granulomatosis with Polyangiitis, Microscopic Polyangiitis or Polyarteritis Nodosa without Poor Prognosis Factors A Randomized-Controlled Trial. ( 28678392 )
2017
41
Multiple small intestinal perforations in a patient with Hepatitis B Virus-associated Polyarteritis Nodosa. ( 28878877 )
2017
42
Cutaneous polyarteritis nodosa localized to a region of lymphedema secondary to Streptococcus viridans cellulitis and multiple surgeries. ( 27862152 )
2017
43
Treatment of polyarteritis nodosa with tocilizumab: a new therapeutic approach? ( 28879047 )
2017
44
Isolated Polyarteritis Nodosa Presenting as Bilateral Testicular Swelling. ( 28943380 )
2017
45
Involvement of the Peripheral Nervous System in Polyarteritis Nodosa and Antineutrophil Cytoplasmic Antibodies-Associated Vasculitis. ( 29061248 )
2017
46
Asymptomatic cutaneous polyarteritis nodosa: treatment options and therapeutic guidelines. ( 28961286 )
2017
47
Correction:<i>Gangrenous digital infarcts in a severe case of cutaneous polyarteritis nodosa</i>. ( 29275379 )
2017
48
Refractory Psoriatic Arthritis and Polyarteritis Nodosa: Co-occurrence in a Patient with Undiagnosed HIV. ( 29738130 )
2017
49
Reclassification of polyarteritis nodosa based on the 1990 ACR criteria using the 2007 EMA algorithm modified by the 2012 CHCC definitions. ( 28980907 )
2017
50
Sudden Death from Spontaneous Coronary Artery Dissection due to Polyarteritis Nodosa. ( 29209584 )
2017

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 66)
# 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 GRCh38 Chromosome 22, 17207107: 17207107
10 ADA2 NM_001282225.1(ADA2): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic rs77563738 GRCh37 Chromosome 22, 17687997: 17687997
11 ADA2 NM_001282225.1(ADA2): c.139G> A (p.Gly47Arg) single nucleotide variant Pathogenic rs202134424 GRCh37 Chromosome 22, 17690429: 17690429
12 ADA2 NM_001282225.1(ADA2): c.139G> A (p.Gly47Arg) single nucleotide variant 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 GRCh37 Chromosome 22, 17662378: 17662378
28 ADA2 NM_001282225.1(ADA2): c.1531A> C (p.Lys511Gln) single nucleotide variant Uncertain significance rs535337577 GRCh38 Chromosome 22, 17181488: 17181488
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 GRCh37 Chromosome 22, 17662853: 17662853
38 ADA2 NM_001282225.1(ADA2): c.1299G> A (p.Gly433=) single nucleotide variant Likely benign rs370907740 GRCh38 Chromosome 22, 17181963: 17181963
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 GRCh37 Chromosome 22, 17663530: 17663530
42 ADA2 NM_001282225.1(ADA2): c.1203G> A (p.Lys401=) single nucleotide variant Likely benign rs960845017 GRCh38 Chromosome 22, 17182640: 17182640
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 GRCh37 Chromosome 22, 17684477: 17684477
46 ADA2 NM_001282225.1(ADA2): c.729G> A (p.Met243Ile) single nucleotide variant Uncertain significance rs151014930 GRCh38 Chromosome 22, 17203587: 17203587
47 ADA2 NM_001282225.1(ADA2): c.542+7A> G single nucleotide variant Benign rs149078840 GRCh37 Chromosome 22, 17687954: 17687954
48 ADA2 NM_001282225.1(ADA2): c.542+7A> G single nucleotide variant Benign rs149078840 GRCh38 Chromosome 22, 17207064: 17207064
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

Sources for Polyarteritis Nodosa, Childhood-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....