PRAAS4
MCID: PRT255
MIFTS: 15

Proteasome-Associated Autoinflammatory Syndrome 4 (PRAAS4)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Proteasome-Associated Autoinflammatory Syndrome 4

MalaCards integrated aliases for Proteasome-Associated Autoinflammatory Syndrome 4:

Name: Proteasome-Associated Autoinflammatory Syndrome 4 57 6
Praas4 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
one patient has been reported (last curated february 2021)
favorable response to the jak inhibitor ruxolitinib


Classifications:



External Ids:

OMIM® 57 619183
OMIM Phenotypic Series 57 PS256040

Summaries for Proteasome-Associated Autoinflammatory Syndrome 4

OMIM® : 57 Proteasome-associated autoinflammatory syndrome-4 (PRAAS4) is an autosomal recessive immunologic disorder characterized by onset of panniculitis and erythematous skin lesions in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, fever, generalized lipodystrophy, myositis, and joint contractures, as well as delayed motor and speech development. Autoimmune features, such as hemolytic anemia, may also occur. Laboratory studies show elevation of acute phase reactants and abnormal activation of the type I interferon response. Treatment with the JAK (see 147795) inhibitor ruxolitinib may result in clinical improvement (summary by de Jesus et al., 2019). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040). (619183) (Updated 05-Apr-2021)

MalaCards based summary : Proteasome-Associated Autoinflammatory Syndrome 4, is also known as praas4. An important gene associated with Proteasome-Associated Autoinflammatory Syndrome 4 is PSMG2 (Proteasome Assembly Chaperone 2).

Related Diseases for Proteasome-Associated Autoinflammatory Syndrome 4

Symptoms & Phenotypes for Proteasome-Associated Autoinflammatory Syndrome 4

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Metabolic Features:
fever

Neurologic Central Nervous System:
motor delay
speech delay
basal ganglia calcifications

Skin Nails Hair Skin:
panniculitis
erythematous nodules

Skeletal Limbs:
joint contractures

Abdomen Liver:
hepatomegaly

Muscle Soft Tissue:
lipoatrophy
myositis
muscle atrophy
lipodystrophy, generalized
fatty replacement of muscle tissue
more
Immunology:
lymphadenopathy
immune dysregulation
abnormal immune activation

Hematology:
autoimmune hemolytic anemia

Laboratory Abnormalities:
type i interferon pattern
elevation of acute phase reactants

Clinical features from OMIM®:

619183 (Updated 05-Apr-2021)

Drugs & Therapeutics for Proteasome-Associated Autoinflammatory Syndrome 4

Search Clinical Trials , NIH Clinical Center for Proteasome-Associated Autoinflammatory Syndrome 4

Genetic Tests for Proteasome-Associated Autoinflammatory Syndrome 4

Anatomical Context for Proteasome-Associated Autoinflammatory Syndrome 4

Publications for Proteasome-Associated Autoinflammatory Syndrome 4

Articles related to Proteasome-Associated Autoinflammatory Syndrome 4:

# Title Authors PMID Year
1
Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4. 61 6 57
30664889 2019

Variations for Proteasome-Associated Autoinflammatory Syndrome 4

ClinVar genetic disease variations for Proteasome-Associated Autoinflammatory Syndrome 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSMG2 NM_020232.5(PSMG2):c.666_667del (p.Tyr223fs) Deletion Pathogenic 997018 GRCh37: 18:12724582-12724583
GRCh38: 18:12724583-12724584
2 PSMG2 NM_020232.5(PSMG2):c.675T>G (p.Asn225Lys) SNV Pathogenic 997019 GRCh37: 18:12724591-12724591
GRCh38: 18:12724592-12724592

Expression for Proteasome-Associated Autoinflammatory Syndrome 4

Search GEO for disease gene expression data for Proteasome-Associated Autoinflammatory Syndrome 4.

Pathways for Proteasome-Associated Autoinflammatory Syndrome 4

GO Terms for Proteasome-Associated Autoinflammatory Syndrome 4

Sources for Proteasome-Associated Autoinflammatory Syndrome 4

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....