PRAAS2
MCID: PRT136
MIFTS: 22

Proteasome-Associated Autoinflammatory Syndrome 2 (PRAAS2)

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

Aliases & Classifications for Proteasome-Associated Autoinflammatory Syndrome 2

MalaCards integrated aliases for Proteasome-Associated Autoinflammatory Syndrome 2:

Name: Proteasome-Associated Autoinflammatory Syndrome 2 58 76 30 6
Praas2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in early infancy
three unrelated patients have been reported (last curated july 2018)


Classifications:



Summaries for Proteasome-Associated Autoinflammatory Syndrome 2

OMIM : 58 Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040). (618048)

MalaCards based summary : Proteasome-Associated Autoinflammatory Syndrome 2, is also known as praas2. An important gene associated with Proteasome-Associated Autoinflammatory Syndrome 2 is POMP (Proteasome Maturation Protein). Affiliated tissues include neutrophil, skin and bone, and related phenotypes are clinodactyly and failure to thrive

UniProtKB/Swiss-Prot : 76 Proteasome-associated autoinflammatory syndrome 2: An autosomal dominant autoinflammatory disorder characterized by onset in early infancy and severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency.

Related Diseases for Proteasome-Associated Autoinflammatory Syndrome 2

Diseases in the Proteasome-Associated Autoinflammatory Syndrome 1 family:

Proteasome-Associated Autoinflammatory Syndrome 3 Proteasome-Associated Autoinflammatory Syndrome 2

Symptoms & Phenotypes for Proteasome-Associated Autoinflammatory Syndrome 2

Human phenotypes related to Proteasome-Associated Autoinflammatory Syndrome 2:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 33 HP:0030084
2 failure to thrive 33 HP:0001508
3 brachydactyly 33 HP:0001156
4 skin rash 33 HP:0000988
5 periorbital edema 33 HP:0100539
6 lymphadenopathy 33 HP:0002716
7 increased antibody level in blood 33 HP:0010702
8 elevated erythrocyte sedimentation rate 33 HP:0003565

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
clinodactyly
brachydactyly

Skeletal:
arthralgia

Skin Nails Hair Skin:
skin rash
neutrophilic dermatosis
skin lesions

Head And Neck Face:
facial edema

Laboratory Abnormalities:
increased erythrocyte sedimentation rate
increased c-reactive protein
increased acute phase reactants

Growth Other:
failure to thrive
poor overall growth

Hematology:
thrombocytopenia

Immunology:
lymphadenopathy
hypergammaglobulinemia
autoantibodies
autoinflammation, chronic
recurrent infections, viral and bacterial
more
Head And Neck Eyes:
periorbital swelling
periorbital erythema
violaceous eyelids

Metabolic Features:
fever, recurrent

Clinical features from OMIM:

618048

Drugs & Therapeutics for Proteasome-Associated Autoinflammatory Syndrome 2

Search Clinical Trials , NIH Clinical Center for Proteasome-Associated Autoinflammatory Syndrome 2

Genetic Tests for Proteasome-Associated Autoinflammatory Syndrome 2

Genetic tests related to Proteasome-Associated Autoinflammatory Syndrome 2:

# Genetic test Affiliating Genes
1 Proteasome-Associated Autoinflammatory Syndrome 2 30 POMP

Anatomical Context for Proteasome-Associated Autoinflammatory Syndrome 2

MalaCards organs/tissues related to Proteasome-Associated Autoinflammatory Syndrome 2:

42
Neutrophil, Skin, Bone, Eye

Publications for Proteasome-Associated Autoinflammatory Syndrome 2

Articles related to Proteasome-Associated Autoinflammatory Syndrome 2:

# Title Authors Year
1
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. ( 29805043 )
2018
2
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. ( 26524591 )
2015
3
An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy. ( 12022327 )
2002

Variations for Proteasome-Associated Autoinflammatory Syndrome 2

ClinVar genetic disease variations for Proteasome-Associated Autoinflammatory Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POMP NM_015932.5(POMP): c.334_335delAT (p.Ile112Trpfs) deletion Pathogenic rs1555257073 GRCh37 Chromosome 13, 29246545: 29246546
2 POMP NM_015932.5(POMP): c.334_335delAT (p.Ile112Trpfs) deletion Pathogenic rs1555257073 GRCh38 Chromosome 13, 28672408: 28672409
3 POMP NM_015932.5(POMP): c.340_344dup (p.Glu115Aspfs) duplication Pathogenic rs1555257075 GRCh38 Chromosome 13, 28672414: 28672418
4 POMP NM_015932.5(POMP): c.340_344dup (p.Glu115Aspfs) duplication Pathogenic rs1555257075 GRCh37 Chromosome 13, 29246551: 29246555
5 POMP NM_015932.5(POMP): c.342_348delTGAGGATinsACC (p.Phe114Leufs) indel Pathogenic rs1555257076 GRCh38 Chromosome 13, 28672416: 28672422
6 POMP NM_015932.5(POMP): c.342_348delTGAGGATinsACC (p.Phe114Leufs) indel Pathogenic rs1555257076 GRCh37 Chromosome 13, 29246553: 29246559

Expression for Proteasome-Associated Autoinflammatory Syndrome 2

Search GEO for disease gene expression data for Proteasome-Associated Autoinflammatory Syndrome 2.

Pathways for Proteasome-Associated Autoinflammatory Syndrome 2

GO Terms for Proteasome-Associated Autoinflammatory Syndrome 2

Sources for Proteasome-Associated Autoinflammatory Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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