PRAAS2
MCID: PRT136
MIFTS: 17

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 57 75 6
Praas2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 618048
MedGen 42 CN252342
MeSH 44 D056660

Summaries for Proteasome-Associated Autoinflammatory Syndrome 2

OMIM : 57 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.

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
brachydactyly

Skeletal:
arthralgia

Skin Nails Hair Skin:
skin rash
neutrophilic dermatosis
skin lesions

Head And Neck Face:
facial edema

Head And Neck Eyes:
periorbital swelling
periorbital erythema
violaceous eyelids

Growth Other:
failure to thrive
poor overall growth

Hematology:
thrombocytopenia

Immunology:
lymphadenopathy
hypergammaglobulinemia
autoantibodies
autoinflammation, chronic
recurrent infections, viral and bacterial
more
Laboratory Abnormalities:
increased erythrocyte sedimentation rate
increased c-reactive protein
increased acute phase reactants

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

Anatomical Context for Proteasome-Associated Autoinflammatory Syndrome 2

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

41
Neutrophil, Skin, Bone, Eye

Publications for Proteasome-Associated Autoinflammatory Syndrome 2

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 GRCh37 Chromosome 13, 29246545: 29246546
2 POMP NM_015932.5(POMP): c.334_335delAT (p.Ile112Trpfs) deletion Pathogenic GRCh38 Chromosome 13, 28672408: 28672409
3 POMP NM_015932.5(POMP): c.340_344dup (p.Glu115Aspfs) duplication Pathogenic GRCh38 Chromosome 13, 28672414: 28672418
4 POMP NM_015932.5(POMP): c.340_344dup (p.Glu115Aspfs) duplication Pathogenic GRCh37 Chromosome 13, 29246551: 29246555
5 POMP NM_015932.5(POMP): c.342_348delTGAGGATinsACC (p.Phe114Leufs) indel Pathogenic GRCh38 Chromosome 13, 28672416: 28672422
6 POMP NM_015932.5(POMP): c.342_348delTGAGGATinsACC (p.Phe114Leufs) indel Pathogenic 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 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
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