PRAAS5
MCID: PRT254
MIFTS: 12

Proteasome-Associated Autoinflammatory Syndrome 5 (PRAAS5)

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

Aliases & Classifications for Proteasome-Associated Autoinflammatory Syndrome 5

MalaCards integrated aliases for Proteasome-Associated Autoinflammatory Syndrome 5:

Name: Proteasome-Associated Autoinflammatory Syndrome 5 57 6
Praas5 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)


Classifications:



External Ids:

OMIM® 57 619175
OMIM Phenotypic Series 57 PS256040

Summaries for Proteasome-Associated Autoinflammatory Syndrome 5

MalaCards based summary : Proteasome-Associated Autoinflammatory Syndrome 5, is also known as praas5. An important gene associated with Proteasome-Associated Autoinflammatory Syndrome 5 is PSMB10 (Proteasome 20S Subunit Beta 10).

More information from OMIM: 619175 PS256040

Related Diseases for Proteasome-Associated Autoinflammatory Syndrome 5

Symptoms & Phenotypes for Proteasome-Associated Autoinflammatory Syndrome 5

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Skeletal Hands:
long fingers

Skin Nails Hair Skin Histology:
nonspecific lymphocytic infiltrate

Abdomen Spleen:
splenomegaly

Metabolic Features:
fever

Skin Nails Hair Skin:
rash, recurrent
annular lesions

Laboratory Abnormalities:
increased serum levels of acute phase reactants
activation of the type 1 interferon response

Clinical features from OMIM®:

619175 (Updated 05-Apr-2021)

Drugs & Therapeutics for Proteasome-Associated Autoinflammatory Syndrome 5

Search Clinical Trials , NIH Clinical Center for Proteasome-Associated Autoinflammatory Syndrome 5

Genetic Tests for Proteasome-Associated Autoinflammatory Syndrome 5

Anatomical Context for Proteasome-Associated Autoinflammatory Syndrome 5

Publications for Proteasome-Associated Autoinflammatory Syndrome 5

Articles related to Proteasome-Associated Autoinflammatory Syndrome 5:

# Title Authors PMID Year
1
PSMB10, the last immunoproteasome gene missing for PRAAS. 57 6
31783057 2020

Variations for Proteasome-Associated Autoinflammatory Syndrome 5

ClinVar genetic disease variations for Proteasome-Associated Autoinflammatory Syndrome 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSMB10 NM_002801.4(PSMB10):c.41T>C (p.Phe14Ser) SNV Pathogenic 997016 GRCh37: 16:67970612-67970612
GRCh38: 16:67936709-67936709

Expression for Proteasome-Associated Autoinflammatory Syndrome 5

Search GEO for disease gene expression data for Proteasome-Associated Autoinflammatory Syndrome 5.

Pathways for Proteasome-Associated Autoinflammatory Syndrome 5

GO Terms for Proteasome-Associated Autoinflammatory Syndrome 5

Sources for Proteasome-Associated Autoinflammatory Syndrome 5

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....