VEXAS
MCID: VXS001
MIFTS: 22

Vexas Syndrome (VEXAS)

Categories: Genetic diseases

Aliases & Classifications for Vexas Syndrome

MalaCards integrated aliases for Vexas Syndrome:

Name: Vexas Syndrome 57 12 6
Vexas 57 6
Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory and Somatic Syndrome 12
Syndrome, Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic 39
Vexas Syndrome, Somatic 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
somatic mosaicism

Miscellaneous:
variable manifestations
adult-onset (range 40 to 80 years)
only males are affected
death from complications of the disease may occur
somatic mosaic mutation


HPO:

31
vexas syndrome:
Onset and clinical course middle age onset
Inheritance autosomal dominant somatic cell mutation


Classifications:



Summaries for Vexas Syndrome

OMIM® : 57 VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome (VEXAS) is an adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death (summary by Beck et al., 2020). (301054) (Updated 05-Mar-2021)

MalaCards based summary : Vexas Syndrome, is also known as vexas. An important gene associated with Vexas Syndrome is UBA1 (Ubiquitin Like Modifier Activating Enzyme 1). Affiliated tissues include myeloid, bone marrow and bone, and related phenotypes are pulmonary infiltrates and recurrent fever

Disease Ontology : 12 A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has material basis in mutations in the UBA1 gene.

Wikipedia : 74 The VEXAS syndrome is an adult-onset autoinflammatory disease affecting males, caused by a mutation in... more...

Related Diseases for Vexas Syndrome

Symptoms & Phenotypes for Vexas Syndrome

Human phenotypes related to Vexas Syndrome:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 pulmonary infiltrates 31 very rare (1%) HP:0002113
2 recurrent fever 31 very rare (1%) HP:0001954
3 macrocytic anemia 31 very rare (1%) HP:0001972
4 chondritis of pinna 31 very rare (1%) HP:0200047
5 thromboembolism 31 very rare (1%) HP:0001907
6 arthritis 31 HP:0001369
7 sensorineural hearing impairment 31 HP:0000407
8 fatigue 31 HP:0012378
9 thrombocytopenia 31 HP:0001873
10 myelodysplasia 31 HP:0002863
11 arthralgia 31 HP:0002829
12 elevated c-reactive protein level 31 HP:0011227
13 elevated erythrocyte sedimentation rate 31 HP:0003565
14 skin plaque 31 HP:0200035
15 deep venous thrombosis 31 HP:0002625
16 night sweats 31 HP:0030166
17 autoimmune antibody positivity 31 HP:0030057
18 arteritis 31 HP:0012089
19 erythroid dysplasia 31 HP:0031688
20 megakaryocyte dysplasia 31 HP:0031689
21 neutrophilic infiltration of the skin 31 HP:0031234

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Muscle Soft Tissue:
arthritis
fatigue
arthralgia

Cardiovascular Vascular:
vasculitis
arteritis

Head And Neck Ears:
chondritis
hearing loss, sensorineural (in some patients)

Metabolic Features:
night sweats
fever, recurrent

Laboratory Abnormalities:
increased acute phase reactants

Respiratory Airways:
airway chondritis

Hematology:
thrombocytopenia
macrocytic anemia
erythroid dysplasia
megakaryocyte dysplasia
myelodysplastic syndrome
more
Respiratory Lung:
pulmonary infiltrates
pulmonary inflammation
pleural pathology

Head And Neck Nose:
chondritis

Skin Nails Hair Skin:
swelling
dermatitis
nodules
neutrophilic dermatosis
plaques

Head And Neck Eyes:
ocular inflammation

Immunology:
autoinflammation
autoantibodies
decreased lymphocytes
myeloid degeneration

Clinical features from OMIM®:

301054 (Updated 05-Mar-2021)

Drugs & Therapeutics for Vexas Syndrome

Search Clinical Trials , NIH Clinical Center for Vexas Syndrome

Genetic Tests for Vexas Syndrome

Anatomical Context for Vexas Syndrome

MalaCards organs/tissues related to Vexas Syndrome:

40
Myeloid, Bone Marrow, Bone

Publications for Vexas Syndrome

Articles related to Vexas Syndrome:

# Title Authors PMID Year
1
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. 61 6 57
33108101 2020
2
Myeloid and lymphoid vacuolation in VEXAS syndrome. 61
33460492 2021
3
Somatic mutations cause VEXAS syndrome. 61
33262468 2021
4
Potential mosquito (Diptera:Culicidae) vector of Dirofilaria repens and Dirofilaria immitis in urban areas of Eastern Slovakia. 61
26391170 2015

Variations for Vexas Syndrome

ClinVar genetic disease variations for Vexas Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UBA1 NM_003334.4(UBA1):c.121A>G (p.Met41Val) SNV Pathogenic 836983 X:47058450-47058450 X:47199051-47199051
2 UBA1 NM_003334.4(UBA1):c.121A>C (p.Met41Leu) SNV Pathogenic 981654 X:47058450-47058450 X:47199051-47199051
3 UBA1 NM_003334.4(UBA1):c.122T>C (p.Met41Thr) SNV Pathogenic 965290 X:47058451-47058451 X:47199052-47199052
4 UBA1 NM_003334.4(UBA1):c.121A>G (p.Met41Val) SNV Pathogenic 836983 X:47058450-47058450 X:47199051-47199051
5 UBA1 NM_003334.4(UBA1):c.122T>C (p.Met41Thr) SNV Pathogenic 965290 X:47058451-47058451 X:47199052-47199052
6 UBA1 NM_003334.4(UBA1):c.121A>C (p.Met41Leu) SNV Pathogenic 981654 X:47058450-47058450 X:47199051-47199051

Expression for Vexas Syndrome

Search GEO for disease gene expression data for Vexas Syndrome.

Pathways for Vexas Syndrome

GO Terms for Vexas Syndrome

Sources for Vexas Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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